-
3
-
-
0032780531
-
The vitamin D receptor and the syndrome of hereditary 1,25-dihydroxyvitamin D-resistant rickets
-
Malloy P.J., Pike J.W., Feldman D. The vitamin D receptor and the syndrome of hereditary 1,25-dihydroxyvitamin D-resistant rickets. Endocr. Rev. 1999, 20:156-188.
-
(1999)
Endocr. Rev.
, vol.20
, pp. 156-188
-
-
Malloy, P.J.1
Pike, J.W.2
Feldman, D.3
-
4
-
-
84884080872
-
Vitamin D: biology, action, and clinical implications
-
Academic Press, San Diego, R. Marcus, D. Feldman, D.A. Nelson, C.J. Rosen (Eds.)
-
Feldman D., Malloy P.J., Krishnan A.V., Balint E. Vitamin D: biology, action, and clinical implications. Osteoporosis 2007, 317-382. Academic Press, San Diego. third ed. R. Marcus, D. Feldman, D.A. Nelson, C.J. Rosen (Eds.).
-
(2007)
Osteoporosis
, pp. 317-382
-
-
Feldman, D.1
Malloy, P.J.2
Krishnan, A.V.3
Balint, E.4
-
5
-
-
0141576600
-
Hereditary 1,25-dihydroxyvitamin D-resistant rickets
-
Malloy P.J., Feldman D. Hereditary 1,25-dihydroxyvitamin D-resistant rickets. Endocr. Dev. 2003, 6:175-199.
-
(2003)
Endocr. Dev.
, vol.6
, pp. 175-199
-
-
Malloy, P.J.1
Feldman, D.2
-
8
-
-
0000104676
-
Eine besondere form der primaren vitamin-D-resistenten rachitis mit hypocalcamie und autosomal-dominantem erbgang: die hereditare pseudo-mangelrachitis
-
Prader V.A., Illig R., Heierli E. Eine besondere form der primaren vitamin-D-resistenten rachitis mit hypocalcamie und autosomal-dominantem erbgang: die hereditare pseudo-mangelrachitis. Helvetica Paediatrica Acta 1961, 16:452-468.
-
(1961)
Helvetica Paediatrica Acta
, vol.16
, pp. 452-468
-
-
Prader, V.A.1
Illig, R.2
Heierli, E.3
-
10
-
-
0030782757
-
Cloning of human 25-hydroxyvitamin D-1 alpha-hydroxylase and mutations causing vitamin D-dependent rickets type 1
-
Fu G.K., Lin D., Zhang M.Y., Bikle D.D., Shackleton C.H., Miller W.L., et al. Cloning of human 25-hydroxyvitamin D-1 alpha-hydroxylase and mutations causing vitamin D-dependent rickets type 1. Mol. Endocrinol. 1997, 11:1961-1970.
-
(1997)
Mol. Endocrinol.
, vol.11
, pp. 1961-1970
-
-
Fu, G.K.1
Lin, D.2
Zhang, M.Y.3
Bikle, D.D.4
Shackleton, C.H.5
Miller, W.L.6
-
12
-
-
0018260338
-
Vitamin-D-dependent rickets type II. Resistance of target organs to 1,25-dihydroxyvitamin D
-
Brooks M.H., Bell N.H., Love L., Stern P.H., Orfei E., Queener S.F., et al. Vitamin-D-dependent rickets type II. Resistance of target organs to 1,25-dihydroxyvitamin D. N. Engl. J. Med. 1978, 298:996-999.
-
(1978)
N. Engl. J. Med.
, vol.298
, pp. 996-999
-
-
Brooks, M.H.1
Bell, N.H.2
Love, L.3
Stern, P.H.4
Orfei, E.5
Queener, S.F.6
-
13
-
-
0018220501
-
A familial syndrome of decrease in sensitivity to 1,25-dihydroxyvitamin D
-
Marx S.J., Spiegel A.M., Brown E.M., Gardner D.G., Downs R.W., Attie M., et al. A familial syndrome of decrease in sensitivity to 1,25-dihydroxyvitamin D. J. Clin. Endocrinol. Metab. 1978, 47:1303-1310.
-
(1978)
J. Clin. Endocrinol. Metab.
, vol.47
, pp. 1303-1310
-
-
Marx, S.J.1
Spiegel, A.M.2
Brown, E.M.3
Gardner, D.G.4
Downs, R.W.5
Attie, M.6
-
14
-
-
0035012564
-
The role of the vitamin D receptor in regulating vitamin D metabolism: a study of vitamin D-dependent rickets, type II
-
Tiosano D., Weisman Y., Hochberg Z. The role of the vitamin D receptor in regulating vitamin D metabolism: a study of vitamin D-dependent rickets, type II. J. Clin. Endocrinol. Metab. 2001, 86:1908-1912.
-
(2001)
J. Clin. Endocrinol. Metab.
, vol.86
, pp. 1908-1912
-
-
Tiosano, D.1
Weisman, Y.2
Hochberg, Z.3
-
15
-
-
21644473252
-
The hungry bone: expected and unexpected
-
Angeli A., Dovio A. The hungry bone: expected and unexpected. Ann. Ital. Med. Int. 2004, 19:IV-VI.
-
(2004)
Ann. Ital. Med. Int.
, vol.19
-
-
Angeli, A.1
Dovio, A.2
-
16
-
-
34250004706
-
[The hungry bone syndrome - an update]
-
Farese S. [The hungry bone syndrome - an update]. Ther. Umsch. 2007, 64:277-280.
-
(2007)
Ther. Umsch.
, vol.64
, pp. 277-280
-
-
Farese, S.1
-
17
-
-
0018410654
-
Rickets with alopecia: an inborn error of vitamin D metabolism
-
Rosen J.F., Fleischman A.R., Finberg L., Hamstra A., DeLuca H.F. Rickets with alopecia: an inborn error of vitamin D metabolism. J. Pediatr. 1979, 94:729-735.
-
(1979)
J. Pediatr.
, vol.94
, pp. 729-735
-
-
Rosen, J.F.1
Fleischman, A.R.2
Finberg, L.3
Hamstra, A.4
DeLuca, H.F.5
-
18
-
-
0018898374
-
End-organ resistance to 1,25-dihydroxycholecalciferol
-
Liberman U.A., Samuel R., Halabe A., Kauli R., Edelstein S., Weisman Y., et al. End-organ resistance to 1,25-dihydroxycholecalciferol. Lancet 1980, 1:504-506.
-
(1980)
Lancet
, vol.1
, pp. 504-506
-
-
Liberman, U.A.1
Samuel, R.2
Halabe, A.3
Kauli, R.4
Edelstein, S.5
Weisman, Y.6
-
20
-
-
0019851959
-
Vitamin D dependent rickets: decreased sensitivity to 1,25-dihydroxyvitamin D
-
Kudoh T., Kumagai T., Uetsuji N., Tsugawa S., Oyanagi K., Chiba Y., et al. Vitamin D dependent rickets: decreased sensitivity to 1,25-dihydroxyvitamin D. Eur. J. Pediatr. 1981, 137:307-311.
-
(1981)
Eur. J. Pediatr.
, vol.137
, pp. 307-311
-
-
Kudoh, T.1
Kumagai, T.2
Uetsuji, N.3
Tsugawa, S.4
Oyanagi, K.5
Chiba, Y.6
-
21
-
-
0020509870
-
Rickets and alopecia with resistance to 1,25-dihydroxyvitamin D: two different clinical courses with two different cellular defects
-
Balsan S., Garabedian M., Liberman U.A., Eil C., Bourdeau A., Guillozo H., et al. Rickets and alopecia with resistance to 1,25-dihydroxyvitamin D: two different clinical courses with two different cellular defects. J. Clin. Endocrinol. Metab. 1983, 57:803-811.
-
(1983)
J. Clin. Endocrinol. Metab.
, vol.57
, pp. 803-811
-
-
Balsan, S.1
Garabedian, M.2
Liberman, U.A.3
Eil, C.4
Bourdeau, A.5
Guillozo, H.6
-
22
-
-
0023548020
-
Dental pathology in calcitirol resistant rickets
-
Laufer D., Benderly A., Hochberg Z. Dental pathology in calcitirol resistant rickets. J. Oral Med. 1987, 42:272-275.
-
(1987)
J. Oral Med.
, vol.42
, pp. 272-275
-
-
Laufer, D.1
Benderly, A.2
Hochberg, Z.3
-
23
-
-
0023830897
-
Absent intestinal response to calciferols in hereditary resistance to 1,25-dihydroxyvitamin D: documentation and effective therapy with high dose intravenous calcium infusions
-
Bliziotes M., Yergey A.L., Nanes M.S., Muenzer J., Begley M.G., Viera N.E., et al. Absent intestinal response to calciferols in hereditary resistance to 1,25-dihydroxyvitamin D: documentation and effective therapy with high dose intravenous calcium infusions. J. Clin. Endocrinol. Metab. 1988, 66:294-300.
-
(1988)
J. Clin. Endocrinol. Metab.
, vol.66
, pp. 294-300
-
-
Bliziotes, M.1
Yergey, A.L.2
Nanes, M.S.3
Muenzer, J.4
Begley, M.G.5
Viera, N.E.6
-
25
-
-
0019442654
-
Vitamin D resistant rickets with alopecia: a form of end organ resistance to 1,25-dihydroxyvitamin D.
-
Beer S., Tieder M., Kohelet D., Liberman O.A., Vure E., Bar-Joseph G., et al. Vitamin D resistant rickets with alopecia: a form of end organ resistance to 1,25-dihydroxyvitamin D. Clin. Endocrinol. 1981, 14:395-402.
-
(1981)
Clin. Endocrinol.
, vol.14
, pp. 395-402
-
-
Beer, S.1
Tieder, M.2
Kohelet, D.3
Liberman, O.A.4
Vure, E.5
Bar-Joseph, G.6
-
27
-
-
0021740146
-
1,25-Dihydroxyvitamin D resistance, rickets, and alopecia
-
Hochberg Z., Benderli A., Levy J., Vardi P., Weisman Y., Chen T., et al. 1,25-Dihydroxyvitamin D resistance, rickets, and alopecia. Am. J. Med. 1984, 77:805-811.
-
(1984)
Am. J. Med.
, vol.77
, pp. 805-811
-
-
Hochberg, Z.1
Benderli, A.2
Levy, J.3
Vardi, P.4
Weisman, Y.5
Chen, T.6
-
28
-
-
0021915040
-
Vitamin D resistance and alopecia: a kindred with normal 1,25-dihydroxyvitamin D binding, but decreased receptor affinity for deoxyribonucleic acid
-
Hirst M.A., Hochman H.I., Feldman D. Vitamin D resistance and alopecia: a kindred with normal 1,25-dihydroxyvitamin D binding, but decreased receptor affinity for deoxyribonucleic acid. J. Clin. Endocrinol. Metab. 1985, 60:490-495.
-
(1985)
J. Clin. Endocrinol. Metab.
, vol.60
, pp. 490-495
-
-
Hirst, M.A.1
Hochman, H.I.2
Feldman, D.3
-
29
-
-
0023277192
-
3 treatment of three patients with 1,25-dihydroxyvitamin D-receptor-defect rickets and alopecia
-
3 treatment of three patients with 1,25-dihydroxyvitamin D-receptor-defect rickets and alopecia. Pediatrics 1987, 80:97-101.
-
(1987)
Pediatrics
, vol.80
, pp. 97-101
-
-
Takeda, E.1
Kuroda, Y.2
Saijo, T.3
Naito, E.4
Kobashi, H.5
Yokota, I.6
-
30
-
-
0027416673
-
A new point mutation in the deoxyribonucleic acid-binding domain of the vitamin D receptor in a kindred with hereditary 1,25-dihydroxyvitamin D-resistant rickets
-
Yagi H., Ozono K., Miyake H., Nagashima K., Kuroume T., Pike J.W. A new point mutation in the deoxyribonucleic acid-binding domain of the vitamin D receptor in a kindred with hereditary 1,25-dihydroxyvitamin D-resistant rickets. J. Clin. Endocrinol. Metab. 1993, 76:509-512.
-
(1993)
J. Clin. Endocrinol. Metab.
, vol.76
, pp. 509-512
-
-
Yagi, H.1
Ozono, K.2
Miyake, H.3
Nagashima, K.4
Kuroume, T.5
Pike, J.W.6
-
31
-
-
84995839573
-
Hereditary 1 alpha,25-dihydroxyvitamin D-resistant rickets resulting from a mutation in the vitamin D receptor deoxyribonucleic acid-binding domain
-
Malloy P.J., Weisman Y., Feldman D. Hereditary 1 alpha,25-dihydroxyvitamin D-resistant rickets resulting from a mutation in the vitamin D receptor deoxyribonucleic acid-binding domain. J. Clin. Endocrinol. Metab. 1994, 78:313-316.
-
(1994)
J. Clin. Endocrinol. Metab.
, vol.78
, pp. 313-316
-
-
Malloy, P.J.1
Weisman, Y.2
Feldman, D.3
-
33
-
-
0003003486
-
Vitamin D: role in the calcium economy
-
Academic Press, San Diego, D. Feldman, F. Glorieux, J.W. Pike (Eds.)
-
Heaney R.P. Vitamin D: role in the calcium economy. Vitamin D 1997, 485-497. Academic Press, San Diego. D. Feldman, F. Glorieux, J.W. Pike (Eds.).
-
(1997)
Vitamin D
, pp. 485-497
-
-
Heaney, R.P.1
-
34
-
-
0030781577
-
Calcium absorptive effects of vitamin D and its major metabolites
-
Heaney R.P., Barger-Lux M.J., Dowell M.S., Chen T.C., Holick M.F. Calcium absorptive effects of vitamin D and its major metabolites. J. Clin. Endocrinol. Metab. 1997, 82:4111-4116.
-
(1997)
J. Clin. Endocrinol. Metab.
, vol.82
, pp. 4111-4116
-
-
Heaney, R.P.1
Barger-Lux, M.J.2
Dowell, M.S.3
Chen, T.C.4
Holick, M.F.5
-
35
-
-
84943209669
-
Calcitriol-resistant rickets with alopecia
-
Hochberg Z., Gilhar A., Haim S., Friedman-Birnbaum R., Levy J., Benderly A. Calcitriol-resistant rickets with alopecia. Arch. Dermatol. 1985, 121:646-647.
-
(1985)
Arch. Dermatol.
, vol.121
, pp. 646-647
-
-
Hochberg, Z.1
Gilhar, A.2
Haim, S.3
Friedman-Birnbaum, R.4
Levy, J.5
Benderly, A.6
-
36
-
-
0022501061
-
Analysis of the relation between alopecia and resistance to 1,25-dihydroxyvitamin D.
-
Marx S.J., Bliziotes M.M., Nanes M. Analysis of the relation between alopecia and resistance to 1,25-dihydroxyvitamin D. Clin. Endocrinol. 1986, 25:373-381.
-
(1986)
Clin. Endocrinol.
, vol.25
, pp. 373-381
-
-
Marx, S.J.1
Bliziotes, M.M.2
Nanes, M.3
-
37
-
-
0018578621
-
3 in intestinal tract, stomach, kidney, skin, pituitary, and parathyroid
-
3 in intestinal tract, stomach, kidney, skin, pituitary, and parathyroid. Science 1979, 206:1188-1190.
-
(1979)
Science
, vol.206
, pp. 1188-1190
-
-
Stumpf, W.E.1
Sar, M.2
Reid, F.A.3
Tanaka, Y.4
DeLuca, H.F.5
-
38
-
-
0023688399
-
Immunocytochemical detection of 1,25-dihydroxyvitamin D receptors in normal human tissues
-
Berger U., Wilson P., McClelland R.A., Colston K., Haussler M.R., Pike J.W., et al. Immunocytochemical detection of 1,25-dihydroxyvitamin D receptors in normal human tissues. J. Clin. Endocrinol. Metab. 1988, 67:607-613.
-
(1988)
J. Clin. Endocrinol. Metab.
, vol.67
, pp. 607-613
-
-
Berger, U.1
Wilson, P.2
McClelland, R.A.3
Colston, K.4
Haussler, M.R.5
Pike, J.W.6
-
39
-
-
14944357411
-
The alopecias associated with vitamin D-dependent rickets type IIA and with hairless gene mutations: a comparative clinical, histologic, and immunohistochemical study
-
Bergman R., Schein-Goldshmid R., Hochberg Z., Ben-Izhak O., Sprecher E. The alopecias associated with vitamin D-dependent rickets type IIA and with hairless gene mutations: a comparative clinical, histologic, and immunohistochemical study. Arch. Dermatol. 2005, 141:343-351.
-
(2005)
Arch. Dermatol.
, vol.141
, pp. 343-351
-
-
Bergman, R.1
Schein-Goldshmid, R.2
Hochberg, Z.3
Ben-Izhak, O.4
Sprecher, E.5
-
40
-
-
0034800098
-
Atrichia caused by mutations in the vitamin D receptor gene is a phenocopy of generalized atrichia caused by mutations in the hairless gene
-
Miller J., Djabali K., Chen T., Liu Y., Ioffreda M., Lyle S., et al. Atrichia caused by mutations in the vitamin D receptor gene is a phenocopy of generalized atrichia caused by mutations in the hairless gene. J. Invest. Dermatol. 2001, 117:612-617.
-
(2001)
J. Invest. Dermatol.
, vol.117
, pp. 612-617
-
-
Miller, J.1
Djabali, K.2
Chen, T.3
Liu, Y.4
Ioffreda, M.5
Lyle, S.6
-
41
-
-
0036844298
-
A novel mutation in helix 12 of the vitamin D receptor impairs coactivator interaction and causes hereditary 1,25-dihydroxyvitamin D-resistant rickets without alopecia
-
Malloy P.J., Xu R., Peng L., Clark P.A., Feldman D. A novel mutation in helix 12 of the vitamin D receptor impairs coactivator interaction and causes hereditary 1,25-dihydroxyvitamin D-resistant rickets without alopecia. Mol. Endocrinol. 2002, 16:2538-2546.
-
(2002)
Mol. Endocrinol.
, vol.16
, pp. 2538-2546
-
-
Malloy, P.J.1
Xu, R.2
Peng, L.3
Clark, P.A.4
Feldman, D.5
-
42
-
-
15444367410
-
Ligand-independent actions of the vitamin D receptor maintain hair follicle homeostasis
-
Skorija K., Cox M., Sisk J.M., Dowd D.R., MacDonald P.N., Thompson C.C., et al. Ligand-independent actions of the vitamin D receptor maintain hair follicle homeostasis. Mol. Endocrinol. 2005, 19:855-862.
-
(2005)
Mol. Endocrinol.
, vol.19
, pp. 855-862
-
-
Skorija, K.1
Cox, M.2
Sisk, J.M.3
Dowd, D.R.4
MacDonald, P.N.5
Thompson, C.C.6
-
43
-
-
0024510484
-
The role of the vitamin D endocrine system in health and disease
-
Reichel H., Koeffler H.P., Norman A.W. The role of the vitamin D endocrine system in health and disease. N. Engl. J. Med. 1989, 320:980-991.
-
(1989)
N. Engl. J. Med.
, vol.320
, pp. 980-991
-
-
Reichel, H.1
Koeffler, H.P.2
Norman, A.W.3
-
44
-
-
0025923045
-
3 receptors: structure and function in transcription
-
3 receptors: structure and function in transcription. Ann. Rev. Nutr. 1991, 11:189-216.
-
(1991)
Ann. Rev. Nutr.
, vol.11
, pp. 189-216
-
-
Pike, J.W.1
-
45
-
-
0027050850
-
Newly identified actions of the vitamin D endocrine system
-
Walters M.R. Newly identified actions of the vitamin D endocrine system. Endocrine. Rev. 1992, 13:719-764.
-
(1992)
Endocrine. Rev.
, vol.13
, pp. 719-764
-
-
Walters, M.R.1
-
46
-
-
0027093335
-
Clinical counterpoint: vitamin D: new actions, new analogs, new therapeutic potential
-
Bikle D.D. Clinical counterpoint: vitamin D: new actions, new analogs, new therapeutic potential. Endocrine. Rev. 1992, 13:765-784.
-
(1992)
Endocrine. Rev.
, vol.13
, pp. 765-784
-
-
Bikle, D.D.1
-
48
-
-
0028299063
-
New insight into the structure and functions of the vitamin D receptor
-
MacDonald P.N., Dowd D.R., Haussler M.R. New insight into the structure and functions of the vitamin D receptor. Semin. Nephrol. 1994, 14:101-118.
-
(1994)
Semin. Nephrol.
, vol.14
, pp. 101-118
-
-
MacDonald, P.N.1
Dowd, D.R.2
Haussler, M.R.3
-
49
-
-
0000448997
-
Vitamin D: biology, action, and clinical implications
-
Academic Press, San Diego, R. Marcus, D. Feldman, J. Kelsey (Eds.)
-
Feldman D., Malloy P.J., Gross C. Vitamin D: biology, action, and clinical implications. Osteoporosis 2001, 257-303. Academic Press, San Diego. R. Marcus, D. Feldman, J. Kelsey (Eds.).
-
(2001)
Osteoporosis
, pp. 257-303
-
-
Feldman, D.1
Malloy, P.J.2
Gross, C.3
-
50
-
-
0021966987
-
Does 1,25-dihydroxyvitamin D participate in the regulation of hormone release from endocrine glands?
-
Hochberg Z., Borochowitz Z., Benderli A., Vardi P., Oren S., Spirer Z., et al. Does 1,25-dihydroxyvitamin D participate in the regulation of hormone release from endocrine glands?. J. Clin. Endocrinol. Metab. 1985, 60:57-61.
-
(1985)
J. Clin. Endocrinol. Metab.
, vol.60
, pp. 57-61
-
-
Hochberg, Z.1
Borochowitz, Z.2
Benderli, A.3
Vardi, P.4
Oren, S.5
Spirer, Z.6
-
51
-
-
0029813101
-
Selective modulation by vitamin D of renal response to parathyroid hormone: a study in calcitriol-resistant rickets
-
Even L., Weisman Y., Goldray D., Hochberg Z. Selective modulation by vitamin D of renal response to parathyroid hormone: a study in calcitriol-resistant rickets. J. Clin. Endocrinol. Metab. 1996, 81:2836-2840.
-
(1996)
J. Clin. Endocrinol. Metab.
, vol.81
, pp. 2836-2840
-
-
Even, L.1
Weisman, Y.2
Goldray, D.3
Hochberg, Z.4
-
52
-
-
0028207072
-
Vitamin D and the hematolymphopoietic tissue: a 1994 update
-
Manolagas S.C., Yu X.P., Girasole G., Bellido T. Vitamin D and the hematolymphopoietic tissue: a 1994 update. Semin. Nephrol. 1994, 14:129-143.
-
(1994)
Semin. Nephrol.
, vol.14
, pp. 129-143
-
-
Manolagas, S.C.1
Yu, X.P.2
Girasole, G.3
Bellido, T.4
-
53
-
-
0024503981
-
Defective leukocyte fungicidal activity in end-organ resistance to 1,25-dihydroxyvitamin D.
-
Etzioni A., Hochberg Z., Pollak S., Meshulam T., Zakut V., Tzehoval E., et al. Defective leukocyte fungicidal activity in end-organ resistance to 1,25-dihydroxyvitamin D. Pediatr. Res. 1989, 25:276-279.
-
(1989)
Pediatr. Res.
, vol.25
, pp. 276-279
-
-
Etzioni, A.1
Hochberg, Z.2
Pollak, S.3
Meshulam, T.4
Zakut, V.5
Tzehoval, E.6
-
54
-
-
0030763857
-
Mice lacking the vitamin D receptor exhibit impaired bone formation, uterine hypoplasia and growth retardation after weaning
-
Yoshizawa T., Handa Y., Uematsu Y., Takeda S., Sekine K., Yoshihara Y., et al. Mice lacking the vitamin D receptor exhibit impaired bone formation, uterine hypoplasia and growth retardation after weaning. Nat. Genet. 1997, 16:391-396.
-
(1997)
Nat. Genet.
, vol.16
, pp. 391-396
-
-
Yoshizawa, T.1
Handa, Y.2
Uematsu, Y.3
Takeda, S.4
Sekine, K.5
Yoshihara, Y.6
-
55
-
-
0030610422
-
Targeted ablation of the vitamin D receptor: an animal model of vitamin D-dependent rickets type II with alopecia
-
Li Y.C., Pirro A.E., Amling M., Delling G., Baron R., Bronson R., et al. Targeted ablation of the vitamin D receptor: an animal model of vitamin D-dependent rickets type II with alopecia. Proc. Natl. Acad. Sci. USA 1997, 94:9831-9835.
-
(1997)
Proc. Natl. Acad. Sci. USA
, vol.94
, pp. 9831-9835
-
-
Li, Y.C.1
Pirro, A.E.2
Amling, M.3
Delling, G.4
Baron, R.5
Bronson, R.6
-
56
-
-
0030466997
-
The presence of a polymorphism at the translation initiation site of the vitamin D receptor gene is associated with low bone mineral density in postmenopausal Mexican-American women
-
Gross C., Eccleshall T.R., Malloy P.J., Villa M.L., Marcus R., Feldman D. The presence of a polymorphism at the translation initiation site of the vitamin D receptor gene is associated with low bone mineral density in postmenopausal Mexican-American women. J. Bone Miner. Res. 1996, 11:1850-1855.
-
(1996)
J. Bone Miner. Res.
, vol.11
, pp. 1850-1855
-
-
Gross, C.1
Eccleshall, T.R.2
Malloy, P.J.3
Villa, M.L.4
Marcus, R.5
Feldman, D.6
-
57
-
-
0026072607
-
A unique mutation in the vitamin D receptor gene in three Japanese patients with vitamin D-dependent rickets type II: utility of single-strand conformation polymorphism analysis for heterozygous carrier detection
-
Saijo T., Ito M., Takeda E., Huq A.H., Naito E., Yokota I., et al. A unique mutation in the vitamin D receptor gene in three Japanese patients with vitamin D-dependent rickets type II: utility of single-strand conformation polymorphism analysis for heterozygous carrier detection. Am. J. Hum. Genet. 1991, 49:668-673.
-
(1991)
Am. J. Hum. Genet.
, vol.49
, pp. 668-673
-
-
Saijo, T.1
Ito, M.2
Takeda, E.3
Huq, A.H.4
Naito, E.5
Yokota, I.6
-
58
-
-
0032168952
-
Multiple promoters direct the tissue-specific expression of novel N-terminal variant human vitamin D receptor gene transcripts
-
Crofts L.A., Hancock M.S., Morrison N.A., Eisman J.A. Multiple promoters direct the tissue-specific expression of novel N-terminal variant human vitamin D receptor gene transcripts. Proc. Natl. Acad. Sci. USA 1998, 95:10529-10534.
-
(1998)
Proc. Natl. Acad. Sci. USA
, vol.95
, pp. 10529-10534
-
-
Crofts, L.A.1
Hancock, M.S.2
Morrison, N.A.3
Eisman, J.A.4
-
59
-
-
0023673238
-
Proposed structure for the zinc-binding domains from transcription factor IIIA and related proteins
-
Berg J.M. Proposed structure for the zinc-binding domains from transcription factor IIIA and related proteins. Proc. Natl. Acad. Sci. USA 1988, 85:99-102.
-
(1988)
Proc. Natl. Acad. Sci. USA
, vol.85
, pp. 99-102
-
-
Berg, J.M.1
-
60
-
-
0024600621
-
Three amino acids of the oestrogen receptor are essential to its ability to distinguish an oestrogen from a glucocorticoid-responsive element
-
Mader S., Kumar V., de Verneuil H., Chambon P. Three amino acids of the oestrogen receptor are essential to its ability to distinguish an oestrogen from a glucocorticoid-responsive element. Nature 1989, 338:271-274.
-
(1989)
Nature
, vol.338
, pp. 271-274
-
-
Mader, S.1
Kumar, V.2
de Verneuil, H.3
Chambon, P.4
-
61
-
-
0024337858
-
Determinants of target gene specificity for steroid/thyroid hormone receptors
-
Umesono K., Evans R.M. Determinants of target gene specificity for steroid/thyroid hormone receptors. Cell 1989, 57:1139-1146.
-
(1989)
Cell
, vol.57
, pp. 1139-1146
-
-
Umesono, K.1
Evans, R.M.2
-
62
-
-
0028817774
-
The T-box near the zinc fingers of the human vitamin D receptor is required for heterodimeric DNA binding and transactivation
-
Hsieh J.C., Jurutka P.W., Selznick S.H., Reeder M.C., Haussler C.A., Whitfield G.K., et al. The T-box near the zinc fingers of the human vitamin D receptor is required for heterodimeric DNA binding and transactivation. Biochem. Biophys. Res. Commun. 1995, 215:1-7.
-
(1995)
Biochem. Biophys. Res. Commun.
, vol.215
, pp. 1-7
-
-
Hsieh, J.C.1
Jurutka, P.W.2
Selznick, S.H.3
Reeder, M.C.4
Haussler, C.A.5
Whitfield, G.K.6
-
63
-
-
0032125575
-
Novel nuclear localization signal between the two DNA-binding zinc fingers in the human vitamin D receptor
-
Hsieh J.C., Shimizu Y., Minoshima S., Shimizu N., Haussler C.A., Jurutka P.W., et al. Novel nuclear localization signal between the two DNA-binding zinc fingers in the human vitamin D receptor. J. Cell Biochem. 1998, 70:94-109.
-
(1998)
J. Cell Biochem.
, vol.70
, pp. 94-109
-
-
Hsieh, J.C.1
Shimizu, Y.2
Minoshima, S.3
Shimizu, N.4
Haussler, C.A.5
Jurutka, P.W.6
-
64
-
-
0036566396
-
Structural basis of VDR-DNA interactions on direct repeat response elements
-
Shaffer P.L., Gewirth D.T. Structural basis of VDR-DNA interactions on direct repeat response elements. EMBO J. 2002, 21:2242-2252.
-
(2002)
EMBO J.
, vol.21
, pp. 2242-2252
-
-
Shaffer, P.L.1
Gewirth, D.T.2
-
66
-
-
0033534163
-
Characterization of unique DNA-binding and transcriptional-activation functions in the carboxyl-terminal extension of the zinc finger region in the human vitamin D receptor
-
Hsieh J.C., Whitfield G.K., Oza A.K., Dang H.T., Price J.N., Galligan M.A., et al. Characterization of unique DNA-binding and transcriptional-activation functions in the carboxyl-terminal extension of the zinc finger region in the human vitamin D receptor. Biochemistry 1999, 38:16347-16358.
-
(1999)
Biochemistry
, vol.38
, pp. 16347-16358
-
-
Hsieh, J.C.1
Whitfield, G.K.2
Oza, A.K.3
Dang, H.T.4
Price, J.N.5
Galligan, M.A.6
-
67
-
-
14044279287
-
Characterization of transcriptional activation and DNA-binding functions in the hinge region of the vitamin D receptor
-
Shaffer P.L., McDonnell D.P., Gewirth D.T. Characterization of transcriptional activation and DNA-binding functions in the hinge region of the vitamin D receptor. Biochemistry 2005, 44:2678-2685.
-
(2005)
Biochemistry
, vol.44
, pp. 2678-2685
-
-
Shaffer, P.L.1
McDonnell, D.P.2
Gewirth, D.T.3
-
68
-
-
0033963897
-
The crystal structure of the nuclear receptor for vitamin D bound to its natural ligand
-
Rochel N., Wurtz J.M., Mitschler A., Klaholz B., Moras D. The crystal structure of the nuclear receptor for vitamin D bound to its natural ligand. Mol. Cell 2000, 5:173-179.
-
(2000)
Mol. Cell
, vol.5
, pp. 173-179
-
-
Rochel, N.1
Wurtz, J.M.2
Mitschler, A.3
Klaholz, B.4
Moras, D.5
-
69
-
-
0028950983
-
Transcription factor TFIIB and the vitamin D receptor cooperatively activate ligand-dependent transcription
-
Blanco J.C., Wang I.M., Tsai S.Y., Tsai M.J., O'Malley B.W., Jurutka P.W., et al. Transcription factor TFIIB and the vitamin D receptor cooperatively activate ligand-dependent transcription. Proc. Natl. Acad. Sci. USA 1995, 92:1535-1539.
-
(1995)
Proc. Natl. Acad. Sci. USA
, vol.92
, pp. 1535-1539
-
-
Blanco, J.C.1
Wang, I.M.2
Tsai, S.Y.3
Tsai, M.J.4
O'Malley, B.W.5
Jurutka, P.W.6
-
70
-
-
0028933711
-
The vitamin D receptor interacts with general transcription factor IIB
-
MacDonald P.N., Sherman D.R., Dowd D.R., Jefcoat S.C., DeLisle R.K. The vitamin D receptor interacts with general transcription factor IIB. J. Biol. Chem. 1995, 270:4748-4752.
-
(1995)
J. Biol. Chem.
, vol.270
, pp. 4748-4752
-
-
MacDonald, P.N.1
Sherman, D.R.2
Dowd, D.R.3
Jefcoat, S.C.4
DeLisle, R.K.5
-
71
-
-
26444503171
-
Mechanisms and functions of vitamin D
-
discussion S54-S75
-
DeLuca H.F., Zierold C. Mechanisms and functions of vitamin D. Nutr. Rev. 1998, 56:S4-S10. discussion S54-S75.
-
(1998)
Nutr. Rev.
, vol.56
-
-
DeLuca, H.F.1
Zierold, C.2
-
72
-
-
0031892913
-
The nuclear vitamin D receptor: biological and molecular regulatory properties revealed
-
Haussler M.R., Whitfield G.K., Haussler C.A., Hsieh J., Thompson P.D., Selznick S.H., et al. The nuclear vitamin D receptor: biological and molecular regulatory properties revealed. J. Bone Min. Res. 1998, 13:325-349.
-
(1998)
J. Bone Min. Res.
, vol.13
, pp. 325-349
-
-
Haussler, M.R.1
Whitfield, G.K.2
Haussler, C.A.3
Hsieh, J.4
Thompson, P.D.5
Selznick, S.H.6
-
73
-
-
0034603725
-
3 receptor: a network of coactivator interactions
-
3 receptor: a network of coactivator interactions. Gene. 2000, 246:9-21.
-
(2000)
Gene.
, vol.246
, pp. 9-21
-
-
Rachez, C.1
Freedman, L.P.2
-
74
-
-
0024207412
-
3 receptors: gene regulation and genetic circuitry
-
3 receptors: gene regulation and genetic circuitry. FASEB J. 1988, 2:3043-3053.
-
(1988)
FASEB J.
, vol.2
, pp. 3043-3053
-
-
Minghetti, P.P.1
Norman, A.W.2
-
75
-
-
0033516469
-
Hormone-dependent translocation of vitamin D receptors is linked to transactivation
-
Racz A., Barsony J. Hormone-dependent translocation of vitamin D receptors is linked to transactivation. J. Biol. Chem. 1999, 274:19352-19360.
-
(1999)
J. Biol. Chem.
, vol.274
, pp. 19352-19360
-
-
Racz, A.1
Barsony, J.2
-
76
-
-
0033515428
-
Increasing the complexity of coactivation in nuclear receptor signaling
-
Freedman L.P. Increasing the complexity of coactivation in nuclear receptor signaling. Cell 1999, 97:5-8.
-
(1999)
Cell
, vol.97
, pp. 5-8
-
-
Freedman, L.P.1
-
77
-
-
0021225252
-
1,25-dihydroxyvitamin D resistance, rickets, and alopecia: analysis of receptors and bioresponse in cultured fibroblasts from patients and parents
-
Chen T.L., Hirst M.A., Cone C.M., Hochberg Z., Tietze H.U., Feldman D. 1,25-dihydroxyvitamin D resistance, rickets, and alopecia: analysis of receptors and bioresponse in cultured fibroblasts from patients and parents. J. Clin. Endocrinol. Metab. 1984, 59:383-388.
-
(1984)
J. Clin. Endocrinol. Metab.
, vol.59
, pp. 383-388
-
-
Chen, T.L.1
Hirst, M.A.2
Cone, C.M.3
Hochberg, Z.4
Tietze, H.U.5
Feldman, D.6
-
79
-
-
0024351706
-
1,25-dihydroxyvitamin D-responsive element and glucocorticoid repression in the osteocalcin gene
-
Morrison N.A., Shine J., Fragonas J.C., Verkest V., McMenemy M.L., Eisman J.A. 1,25-dihydroxyvitamin D-responsive element and glucocorticoid repression in the osteocalcin gene. Science 1989, 246:1158-1161.
-
(1989)
Science
, vol.246
, pp. 1158-1161
-
-
Morrison, N.A.1
Shine, J.2
Fragonas, J.C.3
Verkest, V.4
McMenemy, M.L.5
Eisman, J.A.6
-
80
-
-
0025678705
-
The vitamin D-responsive element in the human osteocalcin gene. Association with a nuclear proto-oncogene enhancer
-
Ozono K., Liao J., Kerner S.A., Scott R.A., Pike J.W. The vitamin D-responsive element in the human osteocalcin gene. Association with a nuclear proto-oncogene enhancer. J. Biol. Chem. 1990, 265:21881-21888.
-
(1990)
J. Biol. Chem.
, vol.265
, pp. 21881-21888
-
-
Ozono, K.1
Liao, J.2
Kerner, S.A.3
Scott, R.A.4
Pike, J.W.5
-
81
-
-
0011356205
-
Structure of the rat osteocalcin gene and regulation of vitamin D-dependent expression
-
Lian J., Stewart C., Puchacz E., Mackowiak S., Shalhoub V., Collart D., et al. Structure of the rat osteocalcin gene and regulation of vitamin D-dependent expression. Proc. Natl. Acad. Sci. USA 1989, 86:1143-1147.
-
(1989)
Proc. Natl. Acad. Sci. USA
, vol.86
, pp. 1143-1147
-
-
Lian, J.1
Stewart, C.2
Puchacz, E.3
Mackowiak, S.4
Shalhoub, V.5
Collart, D.6
-
85
-
-
0026569632
-
3-response element in the 5'-flanking region of the rat calbindin D-9k gene
-
3-response element in the 5'-flanking region of the rat calbindin D-9k gene. Proc. Natl. Acad. Sci. USA 1992, 89:603-607.
-
(1992)
Proc. Natl. Acad. Sci. USA
, vol.89
, pp. 603-607
-
-
Darwish, H.M.1
DeLuca, H.F.2
-
88
-
-
0028982622
-
3 24-hydroxylase gene promoter and identification of two vitamin D-responsive elements
-
3 24-hydroxylase gene promoter and identification of two vitamin D-responsive elements. Biochim. Biophys. Acta 1995, 1263:1-9.
-
(1995)
Biochim. Biophys. Acta
, vol.1263
, pp. 1-9
-
-
Chen, K.S.1
DeLuca, H.F.2
-
89
-
-
0028945042
-
Two vitamin D response elements function in the rat 1,25-dihydroxyvitamin D 24-hydroxylase promoter
-
Zierold C., Darwish H.M., DeLuca H.F. Two vitamin D response elements function in the rat 1,25-dihydroxyvitamin D 24-hydroxylase promoter. J. Biol. Chem. 1995, 270:1675-1678.
-
(1995)
J. Biol. Chem.
, vol.270
, pp. 1675-1678
-
-
Zierold, C.1
Darwish, H.M.2
DeLuca, H.F.3
-
90
-
-
0024268931
-
Point mutations in the human vitamin D receptor gene associated with hypocalcemic rickets
-
Hughes M.R., Malloy P.J., Kieback D.G., Kesterson R.A., Pike J.W., Feldman D., et al. Point mutations in the human vitamin D receptor gene associated with hypocalcemic rickets. Science 1988, 242:1702-1705.
-
(1988)
Science
, vol.242
, pp. 1702-1705
-
-
Hughes, M.R.1
Malloy, P.J.2
Kieback, D.G.3
Kesterson, R.A.4
Pike, J.W.5
Feldman, D.6
-
93
-
-
0018291476
-
An unique form of osteomalacia associated with end organ refractoriness to 1,25-dihydroxyvitamin D and apparent defective synthesis of 25-hydroxyvitamin D
-
Zerwekh J.E., Glass K., Jowsey J., Pak C.Y. An unique form of osteomalacia associated with end organ refractoriness to 1,25-dihydroxyvitamin D and apparent defective synthesis of 25-hydroxyvitamin D. J. Clin. Endocrinol. Metab. 1979, 49:171-175.
-
(1979)
J. Clin. Endocrinol. Metab.
, vol.49
, pp. 171-175
-
-
Zerwekh, J.E.1
Glass, K.2
Jowsey, J.3
Pak, C.Y.4
-
94
-
-
0019169417
-
Organ distribution of the cytoplasmic 1,25-dihydroxycholecalciferol receptor in various mouse tissues
-
Colston K., Hirst M., Feldman D. Organ distribution of the cytoplasmic 1,25-dihydroxycholecalciferol receptor in various mouse tissues. Endocrinology 1980, 107:1916-1922.
-
(1980)
Endocrinology
, vol.107
, pp. 1916-1922
-
-
Colston, K.1
Hirst, M.2
Feldman, D.3
-
97
-
-
0019798839
-
A cellular defect in hereditary vitamin-D-dependent rickets type II: defective nuclear uptake of 1,25-dihydroxyvitamin D in cultured skin fibroblasts
-
Eil C., Liberman U.A., Rosen J.F., Marx S.J. A cellular defect in hereditary vitamin-D-dependent rickets type II: defective nuclear uptake of 1,25-dihydroxyvitamin D in cultured skin fibroblasts. N. Engl. J. Med. 1981, 304:1588-1591.
-
(1981)
N. Engl. J. Med.
, vol.304
, pp. 1588-1591
-
-
Eil, C.1
Liberman, U.A.2
Rosen, J.F.3
Marx, S.J.4
-
100
-
-
0020656541
-
3: association with heterogeneous defects in cultured skin fibroblasts
-
3: association with heterogeneous defects in cultured skin fibroblasts. J. Clin. Invest. 1983, 71:192-200.
-
(1983)
J. Clin. Invest.
, vol.71
, pp. 192-200
-
-
Liberman, U.A.1
Eil, C.2
Marx, S.J.3
-
101
-
-
0021087992
-
Hereditary resistance to 1,25-dihydroxyvitamin D: defective function of receptors for 1,25-dihydroxyvitamin D in cells cultured from bone
-
Liberman U.A., Eil C., Holst P., Rosen J.F., Marx S.J. Hereditary resistance to 1,25-dihydroxyvitamin D: defective function of receptors for 1,25-dihydroxyvitamin D in cells cultured from bone. J. Clin. Endocrinol. Metab. 1983, 57:958-962.
-
(1983)
J. Clin. Endocrinol. Metab.
, vol.57
, pp. 958-962
-
-
Liberman, U.A.1
Eil, C.2
Holst, P.3
Rosen, J.F.4
Marx, S.J.5
-
102
-
-
0022658476
-
Receptor-positive hereditary resistance to 1,25-dihydroxyvitamin D: chromatography of receptor complexes on deoxyribonucleic acid-cellulose shows two classes of mutation
-
Liberman U.A., Eil C., Marx S.J. Receptor-positive hereditary resistance to 1,25-dihydroxyvitamin D: chromatography of receptor complexes on deoxyribonucleic acid-cellulose shows two classes of mutation. J. Clin. Endocrinol. Metab. 1986, 62:122-126.
-
(1986)
J. Clin. Endocrinol. Metab.
, vol.62
, pp. 122-126
-
-
Liberman, U.A.1
Eil, C.2
Marx, S.J.3
-
103
-
-
0024537050
-
Abnormal binding of vitamin D receptors to deoxyribonucleic acid in a kindred with vitamin D-dependent rickets, type II
-
Malloy P.J., Hochberg Z., Pike J.W., Feldman D. Abnormal binding of vitamin D receptors to deoxyribonucleic acid in a kindred with vitamin D-dependent rickets, type II. J. Clin. Endocrinol. Metab. 1989, 68:263-269.
-
(1989)
J. Clin. Endocrinol. Metab.
, vol.68
, pp. 263-269
-
-
Malloy, P.J.1
Hochberg, Z.2
Pike, J.W.3
Feldman, D.4
-
105
-
-
0021258347
-
Development of a radioligand immunoassay for 1,25-dihydroxycholecalciferol receptors utilizing monoclonal antibody
-
Dokoh S., Haussler M.R., Pike J.W. Development of a radioligand immunoassay for 1,25-dihydroxycholecalciferol receptors utilizing monoclonal antibody. Biochem. J. 1984, 221:129-136.
-
(1984)
Biochem. J.
, vol.221
, pp. 129-136
-
-
Dokoh, S.1
Haussler, M.R.2
Pike, J.W.3
-
108
-
-
0021328254
-
3. Interaction and effects of binding on receptor function
-
3. Interaction and effects of binding on receptor function. J. Biol. Chem. 1984, 259:1167-1173.
-
(1984)
J. Biol. Chem.
, vol.259
, pp. 1167-1173
-
-
Pike, J.W.1
-
110
-
-
0022596443
-
Severely deficient binding of 1,25-dihydroxyvitamin D to its receptors in a patient responsive to high doses of this hormone
-
Castells S., Greig F., Fusi M.A., Finberg L., Yasumura S., Liberman U.A., et al. Severely deficient binding of 1,25-dihydroxyvitamin D to its receptors in a patient responsive to high doses of this hormone. J. Clin. Endocrinol. Metab. 1986, 63:252-256.
-
(1986)
J. Clin. Endocrinol. Metab.
, vol.63
, pp. 252-256
-
-
Castells, S.1
Greig, F.2
Fusi, M.A.3
Finberg, L.4
Yasumura, S.5
Liberman, U.A.6
-
111
-
-
0022413889
-
3 receptors in peripheral mononuclear cells of patients with end-organ resistance to 1,25-dihydroxyvitamin D
-
3 receptors in peripheral mononuclear cells of patients with end-organ resistance to 1,25-dihydroxyvitamin D. J. Clin. Invest. 1985, 76:2012-2015.
-
(1985)
J. Clin. Invest.
, vol.76
, pp. 2012-2015
-
-
Koren, R.1
Ravid, A.2
Liberman, U.A.3
Hochberg, Z.4
Weisman, Y.5
Novogrodsky, A.6
-
112
-
-
0022455968
-
Rapid diagnosis of vitamin D-dependent rickets type II by use of phytohemagglutinin-stimulated lymphocytes
-
Takeda E., Kuroda Y., Saijo T., Toshima K., Naito E., Kobashi H., et al. Rapid diagnosis of vitamin D-dependent rickets type II by use of phytohemagglutinin-stimulated lymphocytes. Clin. Chim. Acta. 1986, 155:245-250.
-
(1986)
Clin. Chim. Acta.
, vol.155
, pp. 245-250
-
-
Takeda, E.1
Kuroda, Y.2
Saijo, T.3
Toshima, K.4
Naito, E.5
Kobashi, H.6
-
116
-
-
78651286611
-
Epstein-Barr virus encoded EBNA-3 binds to vitamin D receptor and blocks activation of its target genes
-
Yenamandra S.P., Hellman U., Kempkes B., Darekar S.D., Petermann S., Sculley T., et al. Epstein-Barr virus encoded EBNA-3 binds to vitamin D receptor and blocks activation of its target genes. Cell Mol. Life Sci. 2010, 67:4249-4256.
-
(2010)
Cell Mol. Life Sci.
, vol.67
, pp. 4249-4256
-
-
Yenamandra, S.P.1
Hellman, U.2
Kempkes, B.3
Darekar, S.D.4
Petermann, S.5
Sculley, T.6
-
118
-
-
0005374834
-
Cloning and expression of full-length cDNA encoding human vitamin D receptor
-
Baker A.R., McDonnell D.P., Hughes M., Crisp T.M., Mangelsdorf D.J., Haussler M.R., et al. Cloning and expression of full-length cDNA encoding human vitamin D receptor. Proc. Natl. Acad. Sci. USA 1988, 85:3294-3298.
-
(1988)
Proc. Natl. Acad. Sci. USA
, vol.85
, pp. 3294-3298
-
-
Baker, A.R.1
McDonnell, D.P.2
Hughes, M.3
Crisp, T.M.4
Mangelsdorf, D.J.5
Haussler, M.R.6
-
119
-
-
0023850178
-
Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase
-
Saiki R.K., Gelfand D.H., Stoffel S., Scharf S.J., Higuchi R., Horn G.T., et al. Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase. Science 1988, 239:487-491.
-
(1988)
Science
, vol.239
, pp. 487-491
-
-
Saiki, R.K.1
Gelfand, D.H.2
Stoffel, S.3
Scharf, S.J.4
Higuchi, R.5
Horn, G.T.6
-
120
-
-
0027241002
-
The syndromes of resistance to thyroid hormone
-
Refetoff S., Weiss R.E., Usala S.J. The syndromes of resistance to thyroid hormone. Endocrine. Rev. 1993, 14:348-399.
-
(1993)
Endocrine. Rev.
, vol.14
, pp. 348-399
-
-
Refetoff, S.1
Weiss, R.E.2
Usala, S.J.3
-
122
-
-
0029069878
-
Androgen receptor defects: historical, clinical, and molecular perspectives
-
Quigley C.A., De Bellis A., Marschke K.B., el-Awady M.K., Wilson E.M., French F.S. Androgen receptor defects: historical, clinical, and molecular perspectives. Endocrine Rev. 1995, 16:271-321.
-
(1995)
Endocrine Rev.
, vol.16
, pp. 271-321
-
-
Quigley, C.A.1
De Bellis, A.2
Marschke, K.B.3
el-Awady, M.K.4
Wilson, E.M.5
French, F.S.6
-
123
-
-
52449110003
-
Androgen insensitivity syndrome: clinical features and molecular defects
-
Galani A., Kitsiou-Tzeli S., Sofokleous C., Kanavakis E., Kalpini-Mavrou A. Androgen insensitivity syndrome: clinical features and molecular defects. Hormones (Athens) 2008, 7:217-229.
-
(2008)
Hormones (Athens)
, vol.7
, pp. 217-229
-
-
Galani, A.1
Kitsiou-Tzeli, S.2
Sofokleous, C.3
Kanavakis, E.4
Kalpini-Mavrou, A.5
-
124
-
-
0028143234
-
Estrogen resistance caused by a mutation in the estrogen-receptor gene in a man
-
Smith E.P., Boyd J., Frank G.R., Takahashi H., Cohen R.M., Specker B., et al. Estrogen resistance caused by a mutation in the estrogen-receptor gene in a man. N. Engl. J. Med. 1994, 331:1056-1061.
-
(1994)
N. Engl. J. Med.
, vol.331
, pp. 1056-1061
-
-
Smith, E.P.1
Boyd, J.2
Frank, G.R.3
Takahashi, H.4
Cohen, R.M.5
Specker, B.6
-
125
-
-
0342501862
-
Molecular basis of glucocorticoid-resistant syndromes
-
Werner S., Bronnegard M. Molecular basis of glucocorticoid-resistant syndromes. Steroids 1996, 61:216-221.
-
(1996)
Steroids
, vol.61
, pp. 216-221
-
-
Werner, S.1
Bronnegard, M.2
-
126
-
-
3042754450
-
Familial/sporadic glucocorticoid resistance: clinical phenotype and molecular mechanisms
-
Charmandari E., Kino T., Chrousos G.P. Familial/sporadic glucocorticoid resistance: clinical phenotype and molecular mechanisms. Ann. NY Acad. Sci. 2004, 1024:168-181.
-
(2004)
Ann. NY Acad. Sci.
, vol.1024
, pp. 168-181
-
-
Charmandari, E.1
Kino, T.2
Chrousos, G.P.3
-
127
-
-
0031861245
-
Mutations in the mineralocorticoid receptor gene cause autosomal dominant pseudohypoaldosteronism type I.
-
Geller D.S., Rodriguez-Soriano J., Vallo Boado A., Schifter S., Bayer M., Chang S.S., et al. Mutations in the mineralocorticoid receptor gene cause autosomal dominant pseudohypoaldosteronism type I. Nat. Genet. 1998, 19:279-281.
-
(1998)
Nat. Genet.
, vol.19
, pp. 279-281
-
-
Geller, D.S.1
Rodriguez-Soriano, J.2
Vallo Boado, A.3
Schifter, S.4
Bayer, M.5
Chang, S.S.6
-
128
-
-
2342488106
-
Inactivating mutations of the mineralocorticoid receptor in Type I pseudohypoaldosteronism
-
Sartorato P., Khaldi Y., Lapeyraque A.L., Armanini D., Kuhnle U., Salomon R., et al. Inactivating mutations of the mineralocorticoid receptor in Type I pseudohypoaldosteronism. Mol. Cell Endocrinol. 2004, 217:119-125.
-
(2004)
Mol. Cell Endocrinol.
, vol.217
, pp. 119-125
-
-
Sartorato, P.1
Khaldi, Y.2
Lapeyraque, A.L.3
Armanini, D.4
Kuhnle, U.5
Salomon, R.6
-
130
-
-
0024467078
-
Two siblings with vitamin-D-dependent rickets type II: no recurrence of rickets for 14 years after cessation of therapy
-
Takeda E., Yokota I., Kawakami I., Hashimoto T., Kuroda Y., Arase S. Two siblings with vitamin-D-dependent rickets type II: no recurrence of rickets for 14 years after cessation of therapy. Eur. J. Pediatr. 1989, 149:54-57.
-
(1989)
Eur. J. Pediatr.
, vol.149
, pp. 54-57
-
-
Takeda, E.1
Yokota, I.2
Kawakami, I.3
Hashimoto, T.4
Kuroda, Y.5
Arase, S.6
-
131
-
-
0025778298
-
Clinical and biochemical findings in parents of children with vitamin D-dependent rickets Type II
-
Yokota I., Takeda E., Ito M., Kobashi H., Saijo T., Kuroda Y. Clinical and biochemical findings in parents of children with vitamin D-dependent rickets Type II. J. Inherit. Metab. Dis. 1991, 14:231-240.
-
(1991)
J. Inherit. Metab. Dis.
, vol.14
, pp. 231-240
-
-
Yokota, I.1
Takeda, E.2
Ito, M.3
Kobashi, H.4
Saijo, T.5
Kuroda, Y.6
-
132
-
-
0028104903
-
Two mutations causing vitamin D resistant rickets: modelling on the basis of steroid hormone receptor DNA-binding domain crystal structures
-
Rut A.R., Hewison M., Kristjansson K., Luisi B., Hughes M.R., O'Riordan J.L. Two mutations causing vitamin D resistant rickets: modelling on the basis of steroid hormone receptor DNA-binding domain crystal structures. Clin. Endocrinol. 1994, 41:581-590.
-
(1994)
Clin. Endocrinol.
, vol.41
, pp. 581-590
-
-
Rut, A.R.1
Hewison, M.2
Kristjansson, K.3
Luisi, B.4
Hughes, M.R.5
O'Riordan, J.L.6
-
133
-
-
0027143561
-
Intra-atrial calcium infusions, growth, and development in end organ resistance to vitamin D.
-
Lin J.P., Uttley W.S. Intra-atrial calcium infusions, growth, and development in end organ resistance to vitamin D. Arch. Dis. Child 1993, 69:689-692.
-
(1993)
Arch. Dis. Child
, vol.69
, pp. 689-692
-
-
Lin, J.P.1
Uttley, W.S.2
-
134
-
-
0027013367
-
Vitamin D-resistant rickets type II: apropos of 2 cases
-
Simonin G., Chabrol B., Moulene E., Bollini G., Strouc S., Mattei J.F., et al. Vitamin D-resistant rickets type II: apropos of 2 cases. Pediatrie 1992, 47:817-820.
-
(1992)
Pediatrie
, vol.47
, pp. 817-820
-
-
Simonin, G.1
Chabrol, B.2
Moulene, E.3
Bollini, G.4
Strouc, S.5
Mattei, J.F.6
-
135
-
-
0029899163
-
A novel mutation in the deoxyribonucleic acid-binding domain of the vitamin D receptor gene causes hereditary 1,25-dihydroxyvitamin D resistant rickets
-
Lin N.U.-T., Malloy P.J., Sakati N., Al-Ashwal A., Feldman D. A novel mutation in the deoxyribonucleic acid-binding domain of the vitamin D receptor gene causes hereditary 1,25-dihydroxyvitamin D resistant rickets. J. Clin. Endocrinol. Metab. 1996, 81:2564-2569.
-
(1996)
J. Clin. Endocrinol. Metab.
, vol.81
, pp. 2564-2569
-
-
Lin, N.U.-T.1
Malloy, P.J.2
Sakati, N.3
Al-Ashwal, A.4
Feldman, D.5
-
136
-
-
0022443363
-
Hereditary resistance to 1,25-dihydroxyvitamin D: clinical and radiological improvement during high-dose oral calcium therapy
-
Sakati N., Woodhouse N.J.Y., Niles N., Harfi H., de Grange D.A., Marx S. Hereditary resistance to 1,25-dihydroxyvitamin D: clinical and radiological improvement during high-dose oral calcium therapy. Hormone Res. 1986, 24:280-287.
-
(1986)
Hormone Res.
, vol.24
, pp. 280-287
-
-
Sakati, N.1
Woodhouse, N.J.Y.2
Niles, N.3
Harfi, H.4
de Grange, D.A.5
Marx, S.6
-
137
-
-
44849095086
-
Vitamin D-dependent rickets type II: report of a novel mutation in the vitamin D receptor gene
-
Shafeghati Y., Momenin N., Esfahani T., Reyniers E., Wuyts W. Vitamin D-dependent rickets type II: report of a novel mutation in the vitamin D receptor gene. Arch. Iran Med. 2008, 11:330-334.
-
(2008)
Arch. Iran Med.
, vol.11
, pp. 330-334
-
-
Shafeghati, Y.1
Momenin, N.2
Esfahani, T.3
Reyniers, E.4
Wuyts, W.5
-
138
-
-
71649115356
-
Hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia resulting from a novel missense mutation in the DNA-binding domain of the vitamin D receptor
-
Malloy P.J., Wang J., Srivastava T., Feldman D. Hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia resulting from a novel missense mutation in the DNA-binding domain of the vitamin D receptor. Mol. Genet. Metab. 2010, 99:72-79.
-
(2010)
Mol. Genet. Metab.
, vol.99
, pp. 72-79
-
-
Malloy, P.J.1
Wang, J.2
Srivastava, T.3
Feldman, D.4
-
139
-
-
77949535199
-
A novel missense mutation (C84R) in a patient with type II vitamin D-dependent rickets
-
Asunis I., Marini M.G., Porcu L., Meloni A., Cabriolu A.L., Cao A., et al. A novel missense mutation (C84R) in a patient with type II vitamin D-dependent rickets. Exp. Clin. Endocrinol. Diabetes 2010, 118:177-179.
-
(2010)
Exp. Clin. Endocrinol. Diabetes
, vol.118
, pp. 177-179
-
-
Asunis, I.1
Marini, M.G.2
Porcu, L.3
Meloni, A.4
Cabriolu, A.L.5
Cao, A.6
-
140
-
-
0002536513
-
Vitamin D receptor mutations and hereditary 1,25-dihydroxyvitamin D resistant rickets
-
Walter de Gruyter, New York, A.W. Norman, R. Bouillon, M. Thomasset (Eds.)
-
Malloy P.J., Hughes M.R., Pike J.W., Feldman D. Vitamin D receptor mutations and hereditary 1,25-dihydroxyvitamin D resistant rickets. Vitamin D: gene regulation, structure-function analysis, and clinical application: eighth workshop on vitamin D 1991, 116-124. Walter de Gruyter, New York. A.W. Norman, R. Bouillon, M. Thomasset (Eds.).
-
(1991)
Vitamin D: gene regulation, structure-function analysis, and clinical application: eighth workshop on vitamin D
, pp. 116-124
-
-
Malloy, P.J.1
Hughes, M.R.2
Pike, J.W.3
Feldman, D.4
-
141
-
-
0027519255
-
Vitamin D-dependency rickets type II: truncated vitamin D receptor in three kindreds
-
Wiese R.J., Goto H., Prahl J.M., Marx S.J., Thomas M., al-Aqeel A., et al. Vitamin D-dependency rickets type II: truncated vitamin D receptor in three kindreds. Mol. Cell Endocrinol. 1993, 90:197-201.
-
(1993)
Mol. Cell Endocrinol.
, vol.90
, pp. 197-201
-
-
Wiese, R.J.1
Goto, H.2
Prahl, J.M.3
Marx, S.J.4
Thomas, M.5
al-Aqeel, A.6
-
142
-
-
0030883461
-
Mutations in the vitamin D receptor gene in three kindreds associated with hereditary vitamin D resistant rickets
-
Cockerill F.J., Hawa N.S., Yousaf N., Hewison M., O'Riordan J.L., Farrow S.M. Mutations in the vitamin D receptor gene in three kindreds associated with hereditary vitamin D resistant rickets. J. Clin. Endocrinol. Metab. 1997, 82:3156-3160.
-
(1997)
J. Clin. Endocrinol. Metab.
, vol.82
, pp. 3156-3160
-
-
Cockerill, F.J.1
Hawa, N.S.2
Yousaf, N.3
Hewison, M.4
O'Riordan, J.L.5
Farrow, S.M.6
-
145
-
-
0031916075
-
Hereditary 1,25-dihydroxyvitamin D-resistant rickets due to an opal mutation causing premature termination of the vitamin D receptor
-
Zhu W., Malloy P.J., Delvin E., Chabot G., Feldman D. Hereditary 1,25-dihydroxyvitamin D-resistant rickets due to an opal mutation causing premature termination of the vitamin D receptor. J. Bone Miner. Res. 1998, 13:259-264.
-
(1998)
J. Bone Miner. Res.
, vol.13
, pp. 259-264
-
-
Zhu, W.1
Malloy, P.J.2
Delvin, E.3
Chabot, G.4
Feldman, D.5
-
148
-
-
0036920204
-
A novel nonsense mutation in the ligand binding domain of the vitamin D receptor causes hereditary 1,25-dihydroxyvitamin D-resistant rickets
-
Malloy P.J., Zhu W., Bouillon R., Feldman D. A novel nonsense mutation in the ligand binding domain of the vitamin D receptor causes hereditary 1,25-dihydroxyvitamin D-resistant rickets. Mol. Genet. Metab. 2002, 77:314-318.
-
(2002)
Mol. Genet. Metab.
, vol.77
, pp. 314-318
-
-
Malloy, P.J.1
Zhu, W.2
Bouillon, R.3
Feldman, D.4
-
149
-
-
77958531382
-
Two new unrelated cases of hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia resulting from the same novel nonsense mutation in the vitamin D receptor gene J
-
N. Forghani, C. Lum, S. Krishnan, J. Wang, D.M. Wilson, P.R. Blackett, et al., Two new unrelated cases of hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia resulting from the same novel nonsense mutation in the vitamin D receptor gene J. Pediatr. Endocrinol. Metab. 23 (2010) 843-850.
-
(2010)
Pediatr. Endocrinol. Metab.
, vol.23
, pp. 843-850
-
-
Forghani, N.1
Lum, C.2
Krishnan, S.3
Wang, J.4
Wilson, D.M.5
Blackett, P.R.6
-
150
-
-
0029937338
-
Identification of a novel mutation in hereditary vitamin D resistant rickets causing exon skipping
-
Hawa N.S., Cockerill F.J., Vadher S., Hewison M., Rut A.R., Pike J.W., et al. Identification of a novel mutation in hereditary vitamin D resistant rickets causing exon skipping. Clin. Endocrinol. 1996, 45:85-92.
-
(1996)
Clin. Endocrinol.
, vol.45
, pp. 85-92
-
-
Hawa, N.S.1
Cockerill, F.J.2
Vadher, S.3
Hewison, M.4
Rut, A.R.5
Pike, J.W.6
-
151
-
-
33751283592
-
A girl with a novel splice site mutation in VDR supports the role of a ligand-independent VDR function on hair cycling
-
Katavetin P., Wacharasindhu S., Shotelersuk V. A girl with a novel splice site mutation in VDR supports the role of a ligand-independent VDR function on hair cycling. Horm. Res. 2006, 66:273-276.
-
(2006)
Horm. Res.
, vol.66
, pp. 273-276
-
-
Katavetin, P.1
Wacharasindhu, S.2
Shotelersuk, V.3
-
152
-
-
68949196309
-
Hereditary vitamin D resistant rickets: identification of a novel splice
-
Ma N.S., Malloy P.J., Pitukcheewanont P., Dreimane D., Geffner M.E., Feldman D. Hereditary vitamin D resistant rickets: identification of a novel splice site mutation in the vitamin D receptor gene and successful treatment with oral calcium therapy. Bone 2009, 45:743-746.
-
(2009)
Bone
, vol.45
, pp. 743-746
-
-
Ma, N.S.1
Malloy, P.J.2
Pitukcheewanont, P.3
Dreimane, D.4
Geffner, M.E.5
Feldman, D.6
-
153
-
-
84884733146
-
-
Eighth workshop on Vitamin D, Paris, France, p 6
-
Thompson E., Kristjansson K., Hughes M. Molecular scanning methods for mutation detection: application to the 1,25-dihydroxyvitamin D receptor 1991, Eighth workshop on Vitamin D, Paris, France, p 6.
-
(1991)
Molecular scanning methods for mutation detection: application to the 1,25-dihydroxyvitamin D receptor
-
-
Thompson, E.1
Kristjansson, K.2
Hughes, M.3
-
154
-
-
73649102723
-
Presence of a deletion mutation (c.716delA) in the ligand binding domain of the vitamin D receptor in an Indian patient with vitamin D-dependent rickets type II
-
Kanakamani J., Tomar N., Kaushal E., Tandon N., Goswami R. Presence of a deletion mutation (c.716delA) in the ligand binding domain of the vitamin D receptor in an Indian patient with vitamin D-dependent rickets type II. Calcif. Tissue Int. 2010, 86:33-41.
-
(2010)
Calcif. Tissue Int.
, vol.86
, pp. 33-41
-
-
Kanakamani, J.1
Tomar, N.2
Kaushal, E.3
Tandon, N.4
Goswami, R.5
-
155
-
-
0002966306
-
A novel mutation in the steroid binding region of the vitamin D receptor (VDR) gene in hereditary vitamin D resistant rickets (HVDRR)
-
Walter de Gruyter, New York, A.W. Norman, R. Bouillon, M. Thomasset (Eds.)
-
Rut A.R., Hewison M., Rowe P., Hughes M., Grant D., O'Riordan J.L.H. A novel mutation in the steroid binding region of the vitamin D receptor (VDR) gene in hereditary vitamin D resistant rickets (HVDRR). Vitamin D: gene regulation, structure-function analysis, and clinical application: eighth workshop on vitamin D 1991, 94-95. Walter de Gruyter, New York. A.W. Norman, R. Bouillon, M. Thomasset (Eds.).
-
(1991)
Vitamin D: gene regulation, structure-function analysis, and clinical application: eighth workshop on vitamin D
, pp. 94-95
-
-
Rut, A.R.1
Hewison, M.2
Rowe, P.3
Hughes, M.4
Grant, D.5
O'Riordan, J.L.H.6
-
157
-
-
0031038088
-
Hereditary vitamin D resistant rickets caused by a novel mutation in the vitamin D receptor that results in decreased affinity for hormone and cellular hyporesponsiveness
-
Malloy P.J., Eccleshall T.R., Gross C., Van Maldergem L., Bouillon R., Feldman D. Hereditary vitamin D resistant rickets caused by a novel mutation in the vitamin D receptor that results in decreased affinity for hormone and cellular hyporesponsiveness. J. Clin. Invest. 1997, 99:297-304.
-
(1997)
J. Clin. Invest.
, vol.99
, pp. 297-304
-
-
Malloy, P.J.1
Eccleshall, T.R.2
Gross, C.3
Van Maldergem, L.4
Bouillon, R.5
Feldman, D.6
-
158
-
-
0029838859
-
Syndrome of lipoatrophic diabetes, vitamin D resistant rickets, and persistent müllerian ducts in a Turkish boy born to consanguineous parents
-
Van Maldergem L., Bachy A., Feldman D., Bouillon R., Maassen J., Dreyer M., et al. Syndrome of lipoatrophic diabetes, vitamin D resistant rickets, and persistent müllerian ducts in a Turkish boy born to consanguineous parents. Am. J. Med. Genet. 1996, 64:506-513.
-
(1996)
Am. J. Med. Genet.
, vol.64
, pp. 506-513
-
-
Van Maldergem, L.1
Bachy, A.2
Feldman, D.3
Bouillon, R.4
Maassen, J.5
Dreyer, M.6
-
159
-
-
0034941121
-
Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13
-
Magre J., Delepine M., Khallouf E., Gedde-Dahl T., Van Maldergem L., Sobel E., et al. Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13. Nat. Genet. 2001, 28:365-370.
-
(2001)
Nat. Genet.
, vol.28
, pp. 365-370
-
-
Magre, J.1
Delepine, M.2
Khallouf, E.3
Gedde-Dahl, T.4
Van Maldergem, L.5
Sobel, E.6
-
160
-
-
0036708163
-
Tryptophan missense mutation in the ligand-binding domain of the vitamin D receptor causes severe resistance to 1,25-dihydroxyvitamin D
-
Nguyen T.M., Adiceam P., Kottler M.L., Guillozo H., Rizk-Rabin M., Brouillard F., et al. Tryptophan missense mutation in the ligand-binding domain of the vitamin D receptor causes severe resistance to 1,25-dihydroxyvitamin D. J. Bone Miner. Res. 2002, 17:1728-1737.
-
(2002)
J. Bone Miner. Res.
, vol.17
, pp. 1728-1737
-
-
Nguyen, T.M.1
Adiceam, P.2
Kottler, M.L.3
Guillozo, H.4
Rizk-Rabin, M.5
Brouillard, F.6
-
161
-
-
9244223555
-
Hereditary 1,25-dihydroxyvitamin D resistant rickets due to a mutation causing multiple defects in vitamin D receptor function
-
Malloy P.J., Xu R., Peng L., Peleg S., Al-Ashwal A., Feldman D. Hereditary 1,25-dihydroxyvitamin D resistant rickets due to a mutation causing multiple defects in vitamin D receptor function. Endocrinology 2004, 145:5106-5114.
-
(2004)
Endocrinology
, vol.145
, pp. 5106-5114
-
-
Malloy, P.J.1
Xu, R.2
Peng, L.3
Peleg, S.4
Al-Ashwal, A.5
Feldman, D.6
-
162
-
-
0035064150
-
Functional and structural characterization of the insertion region in the ligand binding domain of the vitamin D nuclear receptor
-
Rochel N., Tocchini-Valentini G., Egea P.F., Juntunen K., Garnier J.M., Vihko P., et al. Functional and structural characterization of the insertion region in the ligand binding domain of the vitamin D nuclear receptor. Eur. J. Biochem. 2001, 268:971-979.
-
(2001)
Eur. J. Biochem.
, vol.268
, pp. 971-979
-
-
Rochel, N.1
Tocchini-Valentini, G.2
Egea, P.F.3
Juntunen, K.4
Garnier, J.M.5
Vihko, P.6
-
163
-
-
77954730912
-
Crystal structure of hereditary vitamin D-resistant rickets - associated mutant H305Q of vitamin D nuclear receptor bound to its natural ligand
-
Rochel N., Hourai S., Moras D. Crystal structure of hereditary vitamin D-resistant rickets - associated mutant H305Q of vitamin D nuclear receptor bound to its natural ligand. J. Steroid Biochem. Mol. Biol. 2010, 121:84-87.
-
(2010)
J. Steroid Biochem. Mol. Biol.
, vol.121
, pp. 84-87
-
-
Rochel, N.1
Hourai, S.2
Moras, D.3
-
164
-
-
58849142040
-
Mutations in the vitamin D receptor gene in four patients with hereditary 1,25-dihydroxyvitamin D-resistant rickets
-
Macedo L.C., Soardi F.C., Ananias N., Belangero V.M., Rigatto S.Z., De-Mello M.P., et al. Mutations in the vitamin D receptor gene in four patients with hereditary 1,25-dihydroxyvitamin D-resistant rickets. Arq. Bras. Endocrinol. Metabol. 2008, 52:1244-1251.
-
(2008)
Arq. Bras. Endocrinol. Metabol.
, vol.52
, pp. 1244-1251
-
-
Macedo, L.C.1
Soardi, F.C.2
Ananias, N.3
Belangero, V.M.4
Rigatto, S.Z.5
De-Mello, M.P.6
-
165
-
-
0034975221
-
A novel inborn error in the ligand-binding domain of the vitamin D receptor causes hereditary vitamin D-resistant rickets
-
Malloy P.J., Zhu W., Zhao X.Y., Pehling G.B., Feldman D. A novel inborn error in the ligand-binding domain of the vitamin D receptor causes hereditary vitamin D-resistant rickets. Mol. Genet. Metab. 2001, 73:138-148.
-
(2001)
Mol. Genet. Metab.
, vol.73
, pp. 138-148
-
-
Malloy, P.J.1
Zhu, W.2
Zhao, X.Y.3
Pehling, G.B.4
Feldman, D.5
-
166
-
-
0030056997
-
A canonical structure for the ligand-binding domain of nuclear receptors
-
Wurtz J.M., Bourguet W., Renaud J.P., Vivat V., Chambon P., Moras D., et al. A canonical structure for the ligand-binding domain of nuclear receptors. Nat. Struct. Biol. 1996, 3:87-94.
-
(1996)
Nat. Struct. Biol.
, vol.3
, pp. 87-94
-
-
Wurtz, J.M.1
Bourguet, W.2
Renaud, J.P.3
Vivat, V.4
Chambon, P.5
Moras, D.6
-
167
-
-
36849004366
-
A novel mutation in the VDR gene in hereditary vitamin D-resistant rickets
-
Arita K., Nanda A., Wessagowit V., Akiyama M., Alsaleh Q.A., McGrath J.A. A novel mutation in the VDR gene in hereditary vitamin D-resistant rickets. Br. J. Dermatol. 2008, 158:168-171.
-
(2008)
Br. J. Dermatol.
, vol.158
, pp. 168-171
-
-
Arita, K.1
Nanda, A.2
Wessagowit, V.3
Akiyama, M.4
Alsaleh, Q.A.5
McGrath, J.A.6
-
168
-
-
44849109039
-
Progressive hearing loss in mice with a mutated vitamin D receptor gene
-
Zou J., Minasyan A., Keisala T., Zhang Y., Wang J.H., Lou Y.R., et al. Progressive hearing loss in mice with a mutated vitamin D receptor gene. Audiol. Neurootol. 2008, 13:219-230.
-
(2008)
Audiol. Neurootol.
, vol.13
, pp. 219-230
-
-
Zou, J.1
Minasyan, A.2
Keisala, T.3
Zhang, Y.4
Wang, J.H.5
Lou, Y.R.6
-
169
-
-
0029123088
-
A highly conserved region in the hormone-binding domain of the human vitamin D receptor contains residues vital for heterodimerization with retinoid X receptor and for transcriptional activation
-
Whitfield G.K., Hsieh J.C., Nakajima S., MacDonald P.N., Thompson P.D., Jurutka P.W., et al. A highly conserved region in the hormone-binding domain of the human vitamin D receptor contains residues vital for heterodimerization with retinoid X receptor and for transcriptional activation. Mol. Endocrinol. 1995, 9:1166-1179.
-
(1995)
Mol. Endocrinol.
, vol.9
, pp. 1166-1179
-
-
Whitfield, G.K.1
Hsieh, J.C.2
Nakajima, S.3
MacDonald, P.N.4
Thompson, P.D.5
Jurutka, P.W.6
-
170
-
-
33646855429
-
Vitamin D-resistant rickets and type 1 diabetes in a child with compound heterozygous mutations of the vitamin D receptor (L263R and R391S): dissociated responses of the CYP-24 and rel-B promoters to 1,25-dihydroxyvitamin D3
-
Nguyen M., d'Alesio A., Pascussi J.M., Kumar R., Griffin M.D., Dong X., et al. Vitamin D-resistant rickets and type 1 diabetes in a child with compound heterozygous mutations of the vitamin D receptor (L263R and R391S): dissociated responses of the CYP-24 and rel-B promoters to 1,25-dihydroxyvitamin D3. J. Bone Miner. Res. 2006, 21:886-894.
-
(2006)
J. Bone Miner. Res.
, vol.21
, pp. 886-894
-
-
Nguyen, M.1
d'Alesio, A.2
Pascussi, J.M.3
Kumar, R.4
Griffin, M.D.5
Dong, X.6
-
171
-
-
65549132417
-
Compound heterozygous mutations in the vitamin D receptor in a patient with hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia
-
Zhou Y., Wang J., Malloy P.J., Dolezel Z., Feldman D. Compound heterozygous mutations in the vitamin D receptor in a patient with hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia. J. Bone Miner. Res. 2009, 24:643-651.
-
(2009)
J. Bone Miner. Res.
, vol.24
, pp. 643-651
-
-
Zhou, Y.1
Wang, J.2
Malloy, P.J.3
Dolezel, Z.4
Feldman, D.5
-
172
-
-
9244262737
-
A unique insertion/substitution in helix H1 of the vitamin D receptor ligand binding domain in a patient with hereditary 1,25-dihydroxyvitamin D-resistant rickets
-
Malloy P.J., Xu R., Cattani A., Reyes L., Feldman D. A unique insertion/substitution in helix H1 of the vitamin D receptor ligand binding domain in a patient with hereditary 1,25-dihydroxyvitamin D-resistant rickets. J. Bone Miner. Res. 2004, 19:1018-1024.
-
(2004)
J. Bone Miner. Res.
, vol.19
, pp. 1018-1024
-
-
Malloy, P.J.1
Xu, R.2
Cattani, A.3
Reyes, L.4
Feldman, D.5
-
173
-
-
34247101888
-
A unique insertion/duplication in the VDR gene that truncates the VDR causing hereditary 1,25-dihydroxyvitamin D-resistant rickets without alopecia
-
Malloy P.J., Wang J., Peng L., Nayak S., Sisk J.M., Thompson C.C., et al. A unique insertion/duplication in the VDR gene that truncates the VDR causing hereditary 1,25-dihydroxyvitamin D-resistant rickets without alopecia. Arch. Biochem. Biophys. 2007, 460:285-292.
-
(2007)
Arch. Biochem. Biophys.
, vol.460
, pp. 285-292
-
-
Malloy, P.J.1
Wang, J.2
Peng, L.3
Nayak, S.4
Sisk, J.M.5
Thompson, C.C.6
-
174
-
-
0037305319
-
Vitamin D-dependent rickets type 2 in a four-month-old cat
-
Schreiner C.A., Nagode L.A. Vitamin D-dependent rickets type 2 in a four-month-old cat. J. Am. Vet. Med. Assoc. 2003, 222:337-339.
-
(2003)
J. Am. Vet. Med. Assoc.
, vol.222
, pp. 337-339
-
-
Schreiner, C.A.1
Nagode, L.A.2
-
175
-
-
26044476178
-
Vitamin D-dependent rickets type 2 with characteristic radiographic changes in a 4-month-old kitten
-
Tanner E., Langley-Hobbs S.J. Vitamin D-dependent rickets type 2 with characteristic radiographic changes in a 4-month-old kitten. J. Feline. Med. Surg. 2005, 7:307-311.
-
(2005)
J. Feline. Med. Surg.
, vol.7
, pp. 307-311
-
-
Tanner, E.1
Langley-Hobbs, S.J.2
-
176
-
-
24944466476
-
Vitamin D-dependent rickets type II in a cat
-
Godfrey D.R., Anderson R.M., Barber P.J., Hewison M. Vitamin D-dependent rickets type II in a cat. J. Small Anim. Pract. 2005, 46:440-444.
-
(2005)
J. Small Anim. Pract.
, vol.46
, pp. 440-444
-
-
Godfrey, D.R.1
Anderson, R.M.2
Barber, P.J.3
Hewison, M.4
-
177
-
-
70350423264
-
Hereditary 1,25-dihydroxyvitamin D-resistant rickets in a Pomeranian dog caused by a novel mutation in the vitamin D receptor gene
-
LeVine D.N., Zhou Y., Ghiloni R.J., Fields E.L., Birkenheuer A.J., Gookin J.L., et al. Hereditary 1,25-dihydroxyvitamin D-resistant rickets in a Pomeranian dog caused by a novel mutation in the vitamin D receptor gene. J. Vet. Intern. Med. 2009, 23:1278-1283.
-
(2009)
J. Vet. Intern. Med.
, vol.23
, pp. 1278-1283
-
-
LeVine, D.N.1
Zhou, Y.2
Ghiloni, R.J.3
Fields, E.L.4
Birkenheuer, A.J.5
Gookin, J.L.6
-
178
-
-
0027133474
-
Tissue resistance to 1,25-dihydroxyvitamin D without a mutation of the vitamin D receptor gene
-
Hewison M., Rut A.R., Kristjansson K., Walker R.E., Dillon M.J., Hughes M.R., et al. Tissue resistance to 1,25-dihydroxyvitamin D without a mutation of the vitamin D receptor gene. Clin. Endocrinol. 1993, 39:663-670.
-
(1993)
Clin. Endocrinol.
, vol.39
, pp. 663-670
-
-
Hewison, M.1
Rut, A.R.2
Kristjansson, K.3
Walker, R.E.4
Dillon, M.J.5
Hughes, M.R.6
-
179
-
-
0038623773
-
Heterogeneous nuclear ribonucleoprotein (hnRNP) binding to hormone response elements: a cause of vitamin D resistance
-
Chen H., Hewison M., Hu B., Adams J.S. Heterogeneous nuclear ribonucleoprotein (hnRNP) binding to hormone response elements: a cause of vitamin D resistance. Proc. Natl. Acad. Sci. USA 2003, 100:6109-6114.
-
(2003)
Proc. Natl. Acad. Sci. USA
, vol.100
, pp. 6109-6114
-
-
Chen, H.1
Hewison, M.2
Hu, B.3
Adams, J.S.4
-
180
-
-
0008235788
-
Glucocorticoid hormone resistance during primate evolution: receptor-mediated mechanisms
-
Chrousos G.P., Renquist D., Brandon D., Eil C., Pugeat M., Vigersky R., et al. Glucocorticoid hormone resistance during primate evolution: receptor-mediated mechanisms. Proc. Natl. Acad. Sci. USA 1982, 79:2036-2040.
-
(1982)
Proc. Natl. Acad. Sci. USA
, vol.79
, pp. 2036-2040
-
-
Chrousos, G.P.1
Renquist, D.2
Brandon, D.3
Eil, C.4
Pugeat, M.5
Vigersky, R.6
-
181
-
-
0021278360
-
Adaptation of the mineralocorticoid target tissues to the high circulating cortisol and progesterone plasma levels in the squirrel monkey
-
Chrousos G.P., Loriaux D.L., Brandon D., Shull J., Renquist D., Hogan W., et al. Adaptation of the mineralocorticoid target tissues to the high circulating cortisol and progesterone plasma levels in the squirrel monkey. Endocrinology 1984, 115:25-32.
-
(1984)
Endocrinology
, vol.115
, pp. 25-32
-
-
Chrousos, G.P.1
Loriaux, D.L.2
Brandon, D.3
Shull, J.4
Renquist, D.5
Hogan, W.6
-
182
-
-
0021351734
-
Uterine estrogen and progesterone receptors in an estrogen- and progesterone- "resistant" primate
-
Chrousos G.P., Brandon D., Renquist D.M., Tomita M., Johnson E., Loriaux D.L., et al. Uterine estrogen and progesterone receptors in an estrogen- and progesterone- "resistant" primate. J. Clin. Endocrinol. Metab. 1984, 58:516-520.
-
(1984)
J. Clin. Endocrinol. Metab.
, vol.58
, pp. 516-520
-
-
Chrousos, G.P.1
Brandon, D.2
Renquist, D.M.3
Tomita, M.4
Johnson, E.5
Loriaux, D.L.6
-
184
-
-
0021819831
-
The mechanism of end-organ resistance to 1 alpha,25-dihydroxycholecalciferol in the common marmoset
-
Takahashi N., Suda S., Shinki T., Horiuchi N., Shiina Y., Tanioka Y., et al. The mechanism of end-organ resistance to 1 alpha,25-dihydroxycholecalciferol in the common marmoset. Biochem. J. 1985, 227:555-563.
-
(1985)
Biochem. J.
, vol.227
, pp. 555-563
-
-
Takahashi, N.1
Suda, S.2
Shinki, T.3
Horiuchi, N.4
Shiina, Y.5
Tanioka, Y.6
-
185
-
-
0033018628
-
Glucocorticoid resistance in the squirrel monkey is associated with overexpression of the immunophilin FKBP51
-
Reynolds P.D., Ruan Y., Smith D.F., Scammell J.G. Glucocorticoid resistance in the squirrel monkey is associated with overexpression of the immunophilin FKBP51. J. Clin. Endocrinol. Metab. 1999, 84:663-669.
-
(1999)
J. Clin. Endocrinol. Metab.
, vol.84
, pp. 663-669
-
-
Reynolds, P.D.1
Ruan, Y.2
Smith, D.F.3
Scammell, J.G.4
-
186
-
-
0029080173
-
Vitamin D dependent rickets type II and normal vitamin D receptor cDNA sequence. A cluster in a rural area of Cauca, Colombia, with more than 200 affected children
-
Giraldo A., Pino W., Garcia-Ramirez L.F., Pineda M., Iglesias A. Vitamin D dependent rickets type II and normal vitamin D receptor cDNA sequence. A cluster in a rural area of Cauca, Colombia, with more than 200 affected children. Clin. Genet. 1995, 48:57-65.
-
(1995)
Clin. Genet.
, vol.48
, pp. 57-65
-
-
Giraldo, A.1
Pino, W.2
Garcia-Ramirez, L.F.3
Pineda, M.4
Iglesias, A.5
-
187
-
-
0018969014
-
An unusual form of vitamin D-dependent rickets in a child: alopecia and marked end-organ hyposensitivity to biologically active vitamin D
-
Tsuchiya Y., Matsuo N., Cho H., Kumagai M., Yasaka A., Suda T., et al. An unusual form of vitamin D-dependent rickets in a child: alopecia and marked end-organ hyposensitivity to biologically active vitamin D. J. Clin. Endocrinol. Metab. 1980, 51:685-690.
-
(1980)
J. Clin. Endocrinol. Metab.
, vol.51
, pp. 685-690
-
-
Tsuchiya, Y.1
Matsuo, N.2
Cho, H.3
Kumagai, M.4
Yasaka, A.5
Suda, T.6
-
188
-
-
0018963779
-
Adult-onset vitamin D-resistant osteomalacia with the unresponsiveness to parathyroid hormone
-
Fujita T., Nomura M., Okajima S., Furuya H. Adult-onset vitamin D-resistant osteomalacia with the unresponsiveness to parathyroid hormone. J. Clin. Endocrinol. Metab. 1980, 50:927-931.
-
(1980)
J. Clin. Endocrinol. Metab.
, vol.50
, pp. 927-931
-
-
Fujita, T.1
Nomura, M.2
Okajima, S.3
Furuya, H.4
-
189
-
-
0028795463
-
Healing of rickets during vitamin D therapy despite defective vitamin D receptors in two siblings with vitamin D-dependent rickets type II
-
Kruse K., Feldmann E. Healing of rickets during vitamin D therapy despite defective vitamin D receptors in two siblings with vitamin D-dependent rickets type II. J. Pediatr. 1995, 126:145-148.
-
(1995)
J. Pediatr.
, vol.126
, pp. 145-148
-
-
Kruse, K.1
Feldmann, E.2
-
190
-
-
0022462199
-
Long-term nocturnal calcium infusions can cure rickets and promote normal mineralization in hereditary resistance to 1,25-dihydroxyvitamin D
-
Balsan S., Garabedian M., Larchet M., Gorski A.M., Cournot G., Tau C., et al. Long-term nocturnal calcium infusions can cure rickets and promote normal mineralization in hereditary resistance to 1,25-dihydroxyvitamin D. J. Clin. Invest. 1986, 77:1661-1667.
-
(1986)
J. Clin. Invest.
, vol.77
, pp. 1661-1667
-
-
Balsan, S.1
Garabedian, M.2
Larchet, M.3
Gorski, A.M.4
Cournot, G.5
Tau, C.6
-
191
-
-
0023624151
-
Long-term intracaval calcium infusion therapy in end-organ resistance to 1,25-dihydroxyvitamin D
-
Weisman Y., Bab I., Gazit D., Spirer Z., Jaffe M., Hochberg Z. Long-term intracaval calcium infusion therapy in end-organ resistance to 1,25-dihydroxyvitamin D. Am. J. Med. 1987, 83:984-990.
-
(1987)
Am. J. Med.
, vol.83
, pp. 984-990
-
-
Weisman, Y.1
Bab, I.2
Gazit, D.3
Spirer, Z.4
Jaffe, M.5
Hochberg, Z.6
-
192
-
-
0026451850
-
Calcium therapy for calcitriol-resistant rickets
-
Hochberg Z., Tiosano D., Even L. Calcium therapy for calcitriol-resistant rickets. J. Pediatr. 1992, 121:803-808.
-
(1992)
J. Pediatr.
, vol.121
, pp. 803-808
-
-
Hochberg, Z.1
Tiosano, D.2
Even, L.3
-
193
-
-
0025006478
-
Prenatal diagnosis of vitamin D-dependent rickets, type II: response to 1,25-dihydroxyvitamin D in amniotic fluid cells and fetal tissues
-
Weisman Y., Jaccard N., Legum C., Spirer Z., Yedwab G., Even L., et al. Prenatal diagnosis of vitamin D-dependent rickets, type II: response to 1,25-dihydroxyvitamin D in amniotic fluid cells and fetal tissues. J. Clin. Endocrinol. Metab. 1990, 71:937-943.
-
(1990)
J. Clin. Endocrinol. Metab.
, vol.71
, pp. 937-943
-
-
Weisman, Y.1
Jaccard, N.2
Legum, C.3
Spirer, Z.4
Yedwab, G.5
Even, L.6
-
194
-
-
0032231885
-
A missense mutation in the zinc-finger domain of the human hairless gene underlies congenital atrichia in a family of Irish travellers
-
Ahmad W., Irvine A.D., Lam H., Buckley C., Bingham E.A., Panteleyev A.A., et al. A missense mutation in the zinc-finger domain of the human hairless gene underlies congenital atrichia in a family of Irish travellers. Am. J. Hum. Genet. 1998, 63:984-991.
-
(1998)
Am. J. Hum. Genet.
, vol.63
, pp. 984-991
-
-
Ahmad, W.1
Irvine, A.D.2
Lam, H.3
Buckley, C.4
Bingham, E.A.5
Panteleyev, A.A.6
-
195
-
-
0009643391
-
Prenatal diagnosis of calcitriol resistant Rickets (CRR) by 1,25(OH)2D3 binding, 24-hydroxylase induction and RFLP analysis
-
Orlando
-
Y. Weisman, P.J. Malloy, A.V. Krishnan, N. Jaccard, D. Feldman, Z. Hochberg Prenatal diagnosis of calcitriol resistant Rickets (CRR) by 1,25(OH)2D3 binding, 24-hydroxylase induction and RFLP analysis. Ninth workshop on Vitamin D, Orlando, 1994 p. 106.
-
(1994)
Ninth workshop on Vitamin D
, pp. 106
-
-
Weisman, Y.1
Malloy, P.J.2
Krishnan, A.V.3
Jaccard, N.4
Feldman, D.5
Hochberg, Z.6
-
197
-
-
2242435340
-
Structure-based design of selective agonists for a rickets-associated mutant of the vitamin d receptor
-
Swann S.L., Bergh J., Farach-Carson M.C., Ocasio C.A., Koh J.T. Structure-based design of selective agonists for a rickets-associated mutant of the vitamin d receptor. J. Am. Chem. Soc. 2002, 124:13795-13805.
-
(2002)
J. Am. Chem. Soc.
, vol.124
, pp. 13795-13805
-
-
Swann, S.L.1
Bergh, J.2
Farach-Carson, M.C.3
Ocasio, C.A.4
Koh, J.T.5
-
198
-
-
0001474784
-
Rational design of vitamin D3 analogues which selectively restore activity to a vitamin D receptor mutant associated with rickets
-
Swann S.L., Bergh J.J., Farach-Carson M.C., Koh J.T. Rational design of vitamin D3 analogues which selectively restore activity to a vitamin D receptor mutant associated with rickets. Org. Lett. 2002, 4:3863-3866.
-
(2002)
Org. Lett.
, vol.4
, pp. 3863-3866
-
-
Swann, S.L.1
Bergh, J.J.2
Farach-Carson, M.C.3
Koh, J.T.4
-
199
-
-
0042398448
-
2Alpha-(3-hydroxypropyl)- and 2alpha-(3-hydroxypropoxy)-1alpha,25-dihydroxyvitamin D(3) accessible to vitamin D receptor mutant related to hereditary vitamin D-resistant rickets
-
Kittaka A., Kurihara M., Peleg S., Suhara Y., Takayama H. 2Alpha-(3-hydroxypropyl)- and 2alpha-(3-hydroxypropoxy)-1alpha,25-dihydroxyvitamin D(3) accessible to vitamin D receptor mutant related to hereditary vitamin D-resistant rickets. Chem. Pharm. Bull. (Tokyo) 2003, 51:357-358.
-
(2003)
Chem. Pharm. Bull. (Tokyo)
, vol.51
, pp. 357-358
-
-
Kittaka, A.1
Kurihara, M.2
Peleg, S.3
Suhara, Y.4
Takayama, H.5
-
200
-
-
0035912707
-
Targeted ablation of the 25-hydroxyvitamin D 1alpha-hydroxylase enzyme: evidence for skeletal, reproductive, and immune dysfunction
-
Panda D.K., Miao D., Tremblay M.L., Sirois J., Farookhi R., Hendy G.N., et al. Targeted ablation of the 25-hydroxyvitamin D 1alpha-hydroxylase enzyme: evidence for skeletal, reproductive, and immune dysfunction. Proc. Natl. Acad. Sci. USA 2001, 98:7498-7503.
-
(2001)
Proc. Natl. Acad. Sci. USA
, vol.98
, pp. 7498-7503
-
-
Panda, D.K.1
Miao, D.2
Tremblay, M.L.3
Sirois, J.4
Farookhi, R.5
Hendy, G.N.6
-
201
-
-
0035213293
-
Targeting expression of the human vitamin D receptor to the keratinocytes of vitamin D receptor null mice prevents alopecia
-
Chen C.H., Sakai Y., Demay M.B. Targeting expression of the human vitamin D receptor to the keratinocytes of vitamin D receptor null mice prevents alopecia. Endocrinology 2001, 142:5386-5389.
-
(2001)
Endocrinology
, vol.142
, pp. 5386-5389
-
-
Chen, C.H.1
Sakai, Y.2
Demay, M.B.3
-
202
-
-
0035091032
-
RXR-alpha ablation in skin keratinocytes results in alopecia and epidermal alterations
-
Li M., Chiba H., Warot X., Messaddeq N., Gerard C., Chambon P., et al. RXR-alpha ablation in skin keratinocytes results in alopecia and epidermal alterations. Development 2001, 128:675-688.
-
(2001)
Development
, vol.128
, pp. 675-688
-
-
Li, M.1
Chiba, H.2
Warot, X.3
Messaddeq, N.4
Gerard, C.5
Chambon, P.6
-
203
-
-
6844265562
-
Alopecia universalis associated with a mutation in the human hairless gene
-
Ahmad W., Faiyaz ul Haque M., Brancolini V., Tsou H.C., ul Haque S., Lam H., et al. Alopecia universalis associated with a mutation in the human hairless gene. Science 1998, 279:720-724.
-
(1998)
Science
, vol.279
, pp. 720-724
-
-
Ahmad, W.1
Faiyaz ul Haque, M.2
Brancolini, V.3
Tsou, H.C.4
ul Haque, S.5
Lam, H.6
-
204
-
-
0346125403
-
Clinical and pathologic correlations in genetically distinct forms of atrichia
-
Zlotogorski A., Hochberg Z., Mirmirani P., Metzker A., Ben-Amitai D., Martinez-Mir A., et al. Clinical and pathologic correlations in genetically distinct forms of atrichia. Arch. Dermatol. 2003, 139:1591-1596.
-
(2003)
Arch. Dermatol.
, vol.139
, pp. 1591-1596
-
-
Zlotogorski, A.1
Hochberg, Z.2
Mirmirani, P.3
Metzker, A.4
Ben-Amitai, D.5
Martinez-Mir, A.6
-
205
-
-
7344229369
-
Cloning, genomic organization, alternative transcripts and mutational analysis of the gene responsible for autosomal recessive universal congenital alopecia
-
Cichon S., Anker M., Vogt I.R., Rohleder H., Putzstuck M., Hillmer A., et al. Cloning, genomic organization, alternative transcripts and mutational analysis of the gene responsible for autosomal recessive universal congenital alopecia. Hum. Mol. Genet. 1998, 7:1671-1679.
-
(1998)
Hum. Mol. Genet.
, vol.7
, pp. 1671-1679
-
-
Cichon, S.1
Anker, M.2
Vogt, I.R.3
Rohleder, H.4
Putzstuck, M.5
Hillmer, A.6
-
206
-
-
0141961566
-
Physical and functional interaction between the vitamin D receptor and hairless corepressor, two proteins required for hair cycling
-
Hsieh J.C., Sisk J.M., Jurutka P.W., Haussler C.A., Slater S.A., Haussler M.R., et al. Physical and functional interaction between the vitamin D receptor and hairless corepressor, two proteins required for hair cycling. J. Biol. Chem. 2003, 278:38665-38674.
-
(2003)
J. Biol. Chem.
, vol.278
, pp. 38665-38674
-
-
Hsieh, J.C.1
Sisk, J.M.2
Jurutka, P.W.3
Haussler, C.A.4
Slater, S.A.5
Haussler, M.R.6
-
207
-
-
70350277707
-
Modulation of vitamin d receptor activity by the corepressor hairless: differential effects of hairless isoforms
-
Malloy P.J., Wang J., Jensen K., Feldman D. Modulation of vitamin d receptor activity by the corepressor hairless: differential effects of hairless isoforms. Endocrinology 2009, 150:4950-4957.
-
(2009)
Endocrinology
, vol.150
, pp. 4950-4957
-
-
Malloy, P.J.1
Wang, J.2
Jensen, K.3
Feldman, D.4
-
208
-
-
34548514822
-
Interactions of the vitamin D receptor with the corepressor hairless: analysis of hairless mutants in atrichia with papular lesions
-
Wang J., Malloy P.J., Feldman D. Interactions of the vitamin D receptor with the corepressor hairless: analysis of hairless mutants in atrichia with papular lesions. J. Biol. Chem. 2007, 282:25231-25239.
-
(2007)
J. Biol. Chem.
, vol.282
, pp. 25231-25239
-
-
Wang, J.1
Malloy, P.J.2
Feldman, D.3
-
209
-
-
26844523484
-
Hairless triggers reactivation of hair growth by promoting Wnt signaling
-
Beaudoin G.M., Sisk J.M., Coulombe P.A., Thompson C.C. Hairless triggers reactivation of hair growth by promoting Wnt signaling. Proc. Natl. Acad. Sci. USA 2005, 102:14653-14658.
-
(2005)
Proc. Natl. Acad. Sci. USA
, vol.102
, pp. 14653-14658
-
-
Beaudoin, G.M.1
Sisk, J.M.2
Coulombe, P.A.3
Thompson, C.C.4
-
210
-
-
33748950604
-
Hairless and Wnt signaling: allies in epithelial stem cell differentiation
-
Thompson C.C., Sisk J.M., Beaudoin G.M. Hairless and Wnt signaling: allies in epithelial stem cell differentiation. Cell Cycle 2006, 5:1913-1917.
-
(2006)
Cell Cycle
, vol.5
, pp. 1913-1917
-
-
Thompson, C.C.1
Sisk, J.M.2
Beaudoin, G.M.3
-
211
-
-
0028047841
-
Overexpression of parathyroid hormone-related protein in the skin of transgenic mice interferes with hair follicle development
-
Wysolmerski J.J., Broadus A.E., Zhou J., Fuchs E., Milstone L.M., Philbrick W.M. Overexpression of parathyroid hormone-related protein in the skin of transgenic mice interferes with hair follicle development. Proc. Natl. Acad. Sci. USA 1994, 91:1133-1137.
-
(1994)
Proc. Natl. Acad. Sci. USA
, vol.91
, pp. 1133-1137
-
-
Wysolmerski, J.J.1
Broadus, A.E.2
Zhou, J.3
Fuchs, E.4
Milstone, L.M.5
Philbrick, W.M.6
-
212
-
-
0037960326
-
Hair-cycle-dependent expression of parathyroid hormone-related protein and its type I receptor: evidence for regulation at the anagen to catagen transition
-
Cho Y.M., Woodard G.L., Dunbar M., Gocken T., Jimenez J.A., Foley J. Hair-cycle-dependent expression of parathyroid hormone-related protein and its type I receptor: evidence for regulation at the anagen to catagen transition. J. Invest. Dermatol. 2003, 120:715-727.
-
(2003)
J. Invest. Dermatol.
, vol.120
, pp. 715-727
-
-
Cho, Y.M.1
Woodard, G.L.2
Dunbar, M.3
Gocken, T.4
Jimenez, J.A.5
Foley, J.6
-
213
-
-
0024462423
-
Transcriptional regulation of the parathyroid hormone-related peptide gene by glucocorticoids and vitamin D in a human C-cell line
-
Ikeda K., Lu C., Weir E.C., Mangin M., Broadus A.E. Transcriptional regulation of the parathyroid hormone-related peptide gene by glucocorticoids and vitamin D in a human C-cell line. J. Biol. Chem. 1989, 264:15743-15746.
-
(1989)
J. Biol. Chem.
, vol.264
, pp. 15743-15746
-
-
Ikeda, K.1
Lu, C.2
Weir, E.C.3
Mangin, M.4
Broadus, A.E.5
-
214
-
-
0017671766
-
Basic and clinical concepts related to vitamin D metabolism and action
-
Haussler M.R., McCain T.A. Basic and clinical concepts related to vitamin D metabolism and action. N. Engl. J. Med. 1977, 297:1041-1050.
-
(1977)
N. Engl. J. Med.
, vol.297
, pp. 1041-1050
-
-
Haussler, M.R.1
McCain, T.A.2
-
215
-
-
0018748465
-
The vitamin D system in the regulation of calcium and phosphorus metabolism
-
DeLuca H.F. The vitamin D system in the regulation of calcium and phosphorus metabolism. Nutr. Rev. 1979, 37:161-193.
-
(1979)
Nutr. Rev.
, vol.37
, pp. 161-193
-
-
DeLuca, H.F.1
-
218
-
-
0021447735
-
Vitamin D is not directly necessary for bone growth and mineralization
-
Underwood J.L., DeLuca H.F. Vitamin D is not directly necessary for bone growth and mineralization. Am. J. Physiol. 1984, 246:E493-498.
-
(1984)
Am. J. Physiol.
, vol.246
-
-
Underwood, J.L.1
DeLuca, H.F.2
-
219
-
-
8544221158
-
Structural organization of the human vitamin D receptor chromosomal gene and its promoter
-
Miyamoto K., Kesterson R.A., Yamamoto H., Taketani Y., Nishiwaki E., Tatsumi S., et al. Structural organization of the human vitamin D receptor chromosomal gene and its promoter. Mol. Endocrinol. 1997, 11:1165-1179.
-
(1997)
Mol. Endocrinol.
, vol.11
, pp. 1165-1179
-
-
Miyamoto, K.1
Kesterson, R.A.2
Yamamoto, H.3
Taketani, Y.4
Nishiwaki, E.5
Tatsumi, S.6
-
220
-
-
0019442654
-
Vitamin D resistant rickets with alopecia: a form of end organ resistance to 1,25 dihydroxy vitamin D
-
Beer S., Tieder M., Kohelet D., Liberman O.A., Vure E., Bar-Joseph G., et al. Vitamin D resistant rickets with alopecia: a form of end organ resistance to 1,25 dihydroxy vitamin D. Clin. Endocrinol. (Oxf.) 1981, 14:395-402.
-
(1981)
Clin. Endocrinol. (Oxf.)
, vol.14
, pp. 395-402
-
-
Beer, S.1
Tieder, M.2
Kohelet, D.3
Liberman, O.A.4
Vure, E.5
Bar-Joseph, G.6
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