-
1
-
-
32944459130
-
A novel mutation in the GATA3 gene in a family with HDR syndrome (hypoparathyroidism, sensorineural deafness and renal anomaly syndrome)
-
16509533 10.1515/JPEM.2006.19.1.87 1:CAS:528:DC%2BD28XisFWltL8%3D
-
Adachi M, Tachibana K, Asakura Y, Tsuchiya T (2006) A novel mutation in the GATA3 gene in a family with HDR syndrome (hypoparathyroidism, sensorineural deafness and renal anomaly syndrome). J Pediatr Endocrinol Metab 19:87-92
-
(2006)
J Pediatr Endocrinol Metab
, vol.19
, pp. 87-92
-
-
Adachi, M.1
Tachibana, K.2
Asakura, Y.3
Tsuchiya, T.4
-
2
-
-
33847303673
-
Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: Insight into mechanisms of DNA binding by the GATA3 transcription factor
-
17210674 10.1093/hmg/ddl454 1:CAS:528:DC%2BD2sXhtlKjtbw%3D
-
Ali A, Christie PT, Grigorieva IV, Harding B, Van Esch H, Ahmed SF, Bitner-Glindzicz M, Blind E, Bloch C, Christin P, Clayton P, Gecz J, Gilbert-Dussardier B, Guillen-Navarro E, Hackett A, Halac I, Hendy GN, Lalloo F, Mache CJ, Mughal Z, Ong AC, Rinat C, Shaw N, Smithson SF, Tolmie J, Weill J, Nesbit MA, Thakker RV (2007) Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factor. Hum Mol Genet 16:265-275
-
(2007)
Hum Mol Genet
, vol.16
, pp. 265-275
-
-
Ali, A.1
Christie, P.T.2
Grigorieva, I.V.3
Harding, B.4
Van Esch, H.5
Ahmed, S.F.6
Bitner-Glindzicz, M.7
Blind, E.8
Bloch, C.9
Christin, P.10
Clayton, P.11
Gecz, J.12
Gilbert-Dussardier, B.13
Guillen-Navarro, E.14
Hackett, A.15
Halac, I.16
Hendy, G.N.17
Lalloo, F.18
MacHe, C.J.19
Mughal, Z.20
Ong, A.C.21
Rinat, C.22
Shaw, N.23
Smithson, S.F.24
Tolmie, J.25
Weill, J.26
Nesbit, M.A.27
Thakker, R.V.28
more..
-
3
-
-
80052474614
-
Novel DNA mutation in the GATA3 gene in an Emirati boy with HDR syndrome and hypomagnesemia
-
21399899 10.1007/s00467-011-1835-8
-
Al-Shibli A, Al Attrach I, Willems PJ (2011) Novel DNA mutation in the GATA3 gene in an Emirati boy with HDR syndrome and hypomagnesemia. Pediatr Nephrol 26:1167-1170
-
(2011)
Pediatr Nephrol
, vol.26
, pp. 1167-1170
-
-
Al-Shibli, A.1
Al Attrach, I.2
Willems, P.J.3
-
4
-
-
0026728345
-
Brief report: Autosomal dominant familial hypoparathyroidism, sensorineural deafness, and renal dysplasia
-
1522843 10.1056/NEJM199210083271506 1:STN:280:DyaK38zps1Wlsg%3D%3D
-
Bilous RW, Murty G, Parkinson DB, Thakker RV, Coulthard MG, Burn J, Mathias D, Kendall-Taylor P (1992) Brief report: autosomal dominant familial hypoparathyroidism, sensorineural deafness, and renal dysplasia. N Engl J Med 327:1069-1074
-
(1992)
N Engl J Med
, vol.327
, pp. 1069-1074
-
-
Bilous, R.W.1
Murty, G.2
Parkinson, D.B.3
Thakker, R.V.4
Coulthard, M.G.5
Burn, J.6
Mathias, D.7
Kendall-Taylor, P.8
-
5
-
-
33751529515
-
Identification of three novel mutations in the GATA3 gene responsible for familial hypoparathyroidism and deafness in the Chinese population
-
16912130 10.1210/jc.2006-0864 1:CAS:528:DC%2BD28Xht1WhurnO
-
Chiu WY, Chen HW, Chao HW, Yann LT, Tsai KS (2006) Identification of three novel mutations in the GATA3 gene responsible for familial hypoparathyroidism and deafness in the Chinese population. J Clin Endocrinol Metab 91:4587-4592
-
(2006)
J Clin Endocrinol Metab
, vol.91
, pp. 4587-4592
-
-
Chiu, W.Y.1
Chen, H.W.2
Chao, H.W.3
Yann, L.T.4
Tsai, K.S.5
-
6
-
-
63749128216
-
HDR syndrome: A novel "de novo" mutation in GATA3 gene
-
19248180 10.1002/ajmg.a.32689 1:CAS:528:DC%2BD1MXksFent78%3D
-
Ferraris S, Del Monaco AG, Garelli E, Carando A, De Vito B, Pappi P, Lala R, Ponzone A (2009) HDR syndrome: a novel "de novo" mutation in GATA3 gene. Am J Med Genet A 149A:770-775
-
(2009)
Am J Med Genet A
, vol.149
, pp. 770-775
-
-
Ferraris, S.1
Del Monaco, A.G.2
Garelli, E.3
Carando, A.4
De Vito, B.5
Pappi, P.6
Lala, R.7
Ponzone, A.8
-
7
-
-
79952723825
-
GATA3 abnormalities in six patients with HDR syndrome
-
21242646 10.1507/endocrj.K10E-234 1:CAS:528:DC%2BC3MXmtF2ht7o%3D
-
Fukami M, Muroya K, Miyake T, Iso M, Kato F, Yokoi H, Suzuki Y, Tsubouchi K, Nakagomi Y, Kikuchi N, Horikawa R, Ogata T (2011) GATA3 abnormalities in six patients with HDR syndrome. Endocr J 58:117-121
-
(2011)
Endocr J
, vol.58
, pp. 117-121
-
-
Fukami, M.1
Muroya, K.2
Miyake, T.3
Iso, M.4
Kato, F.5
Yokoi, H.6
Suzuki, Y.7
Tsubouchi, K.8
Nakagomi, Y.9
Kikuchi, N.10
Horikawa, R.11
Ogata, T.12
-
8
-
-
70349923432
-
A missense GATA3 mutation, Thr272Ile, causes the hypoparathyroidism, deafness, and renal dysplasia syndrome
-
19723756 10.1210/jc.2009-0717 1:CAS:528:DC%2BD1MXht12ru7nL
-
Gaynor KU, Grigorieva IV, Nesbit MA, Cranston T, Gomes T, Gortner L, Thakker RV (2009) A missense GATA3 mutation, Thr272Ile, causes the hypoparathyroidism, deafness, and renal dysplasia syndrome. J Clin Endocrinol Metab 94:3897-3904
-
(2009)
J Clin Endocrinol Metab
, vol.94
, pp. 3897-3904
-
-
Gaynor, K.U.1
Grigorieva, I.V.2
Nesbit, M.A.3
Cranston, T.4
Gomes, T.5
Gortner, L.6
Thakker, R.V.7
-
9
-
-
0030734503
-
HDR syndrome (hypoparathyroidism, sensorineural deafness, renal dysplasia) associated with del(10)(p13)
-
9415468 10.1002/(SICI)1096-8628(19971231)73:4<416: AID-AJMG9>3.0.CO;2-L 1:STN:280:DyaK1c%2FnsF2msg%3D%3D
-
Hasegawa T, Hasegawa Y, Aso T, Koto S, Nagai T, Tsuchiya Y, Kim KC, Ohashi H, Wakui K, Fukushima Y (1997) HDR syndrome (hypoparathyroidism, sensorineural deafness, renal dysplasia) associated with del(10)(p13). Am J Med Genet 73:416-418
-
(1997)
Am J Med Genet
, vol.73
, pp. 416-418
-
-
Hasegawa, T.1
Hasegawa, Y.2
Aso, T.3
Koto, S.4
Nagai, T.5
Tsuchiya, Y.6
Kim, K.C.7
Ohashi, H.8
Wakui, K.9
Fukushima, Y.10
-
10
-
-
33845325332
-
A novel heterozygous deletion frameshift mutation of GATA3 in a Japanese kindred with the hypoparathyroidism, deafness and renal dysplasia syndrome
-
17114920 1:CAS:528:DC%2BD2sXitl2jsA%3D%3D
-
Kobayashi H, Kasahara M, Hino M, Yoshimura H, Takahara S, Ikeda K, Son C, Iwakura T, Yoshimoto A, Ishihara T, Ogawa Y (2006) A novel heterozygous deletion frameshift mutation of GATA3 in a Japanese kindred with the hypoparathyroidism, deafness and renal dysplasia syndrome. J Endocrinol Invest 29:851-853
-
(2006)
J Endocrinol Invest
, vol.29
, pp. 851-853
-
-
Kobayashi, H.1
Kasahara, M.2
Hino, M.3
Yoshimura, H.4
Takahara, S.5
Ikeda, K.6
Son, C.7
Iwakura, T.8
Yoshimoto, A.9
Ishihara, T.10
Ogawa, Y.11
-
11
-
-
0029047090
-
The GATA-3 gene is expressed during human kidney embryogenesis
-
7643528 10.1038/ki.1995.223 1:STN:280:DyaK2MzntFalsA%3D%3D
-
Labastie MC, Catala M, Gregoire JM, Peault B (1995) The GATA-3 gene is expressed during human kidney embryogenesis. Kidney Int 47:1597-1603
-
(1995)
Kidney Int
, vol.47
, pp. 1597-1603
-
-
Labastie, M.C.1
Catala, M.2
Gregoire, J.M.3
Peault, B.4
-
12
-
-
17744381231
-
Identification of a novel insertion mutation in GATA3 with HDR syndrome
-
15830275 10.1007/s10157-004-0327-6 1:CAS:528:DC%2BD2MXktVOksL4%3D
-
Mino Y, Kuwahara T, Mannami T, Shioji K, Ono K, Iwai N (2005) Identification of a novel insertion mutation in GATA3 with HDR syndrome. Clin Exp Nephrol 9:58-61
-
(2005)
Clin Exp Nephrol
, vol.9
, pp. 58-61
-
-
Mino, Y.1
Kuwahara, T.2
Mannami, T.3
Shioji, K.4
Ono, K.5
Iwai, N.6
-
13
-
-
81155161813
-
A new case of HDR syndrome with severe female genital tract malformation: Comment on "novel mutation in the gene encoding the GATA3 transcription factor in a Spanish familial case of hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome with female genital tract malformations" by Hernandez et al
-
21834031
-
Moldovan O, Carvalho R, Jorge Z, Medeira A (2011) A new case of HDR syndrome with severe female genital tract malformation: comment on "Novel mutation in the gene encoding the GATA3 transcription factor in a Spanish familial case of hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome with female genital tract malformations" by Hernandez et al. Am J Med Genet A 155A:2329-2330
-
(2011)
Am J Med Genet A
, vol.155
, pp. 2329-2330
-
-
Moldovan, O.1
Carvalho, R.2
Jorge, Z.3
Medeira, A.4
-
14
-
-
0034979425
-
GATA3 abnormalities and the phenotypic spectrum of HDR syndrome
-
11389161 10.1136/jmg.38.6.374 1:CAS:528:DC%2BD3MXltFeru70%3D
-
Muroya K, Hasegawa T, Ito Y, Nagai T, Isotani H, Iwata Y, Yamamoto K, Fujimoto S, Seishu S, Fukushima Y, Hasegawa Y, Ogata T (2001) GATA3 abnormalities and the phenotypic spectrum of HDR syndrome. J Med Genet 38:374-380
-
(2001)
J Med Genet
, vol.38
, pp. 374-380
-
-
Muroya, K.1
Hasegawa, T.2
Ito, Y.3
Nagai, T.4
Isotani, H.5
Iwata, Y.6
Yamamoto, K.7
Fujimoto, S.8
Seishu, S.9
Fukushima, Y.10
Hasegawa, Y.11
Ogata, T.12
-
15
-
-
77649228877
-
Diabetes mellitus in a Japanese girl with HDR syndrome and GATA3 mutation
-
19952462 10.1507/endocrj.K09E-313
-
Muroya K, Mochizuki T, Fukami M, Iso M, Fujita K, Itakura M, Ogata T (2010) Diabetes mellitus in a Japanese girl with HDR syndrome and GATA3 mutation. Endocr J 57:171-174
-
(2010)
Endocr J
, vol.57
, pp. 171-174
-
-
Muroya, K.1
Mochizuki, T.2
Fukami, M.3
Iso, M.4
Fujita, K.5
Itakura, M.6
Ogata, T.7
-
16
-
-
79952710110
-
Molecular analysis of the GATA3 gene in five Japanese patients with HDR syndrome
-
21157112 10.1507/endocrj.K10E-246 1:CAS:528:DC%2BC3MXmtF2ht7g%3D
-
Nakamura A, Fujiwara F, Hasegawa Y, Ishizu K, Mabe A, Nakagawa H, Nagasaki K, Jo W, Tajima T (2011) Molecular analysis of the GATA3 gene in five Japanese patients with HDR syndrome. Endocr J 58:123-130
-
(2011)
Endocr J
, vol.58
, pp. 123-130
-
-
Nakamura, A.1
Fujiwara, F.2
Hasegawa, Y.3
Ishizu, K.4
Mabe, A.5
Nakagawa, H.6
Nagasaki, K.7
Jo, W.8
Tajima, T.9
-
17
-
-
2542471328
-
Characterization of GATA3 mutations in the hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome
-
14985365 10.1074/jbc.M401797200 1:CAS:528:DC%2BD2cXjvF2rtbk%3D
-
Nesbit MA, Bowl MR, Harding B, Ali A, Ayala A, Crowe C, Dobbie A, Hampson G, Holdaway I, Levine MA, McWilliams R, Rigden S, Sampson J, Williams AJ, Thakker RV (2004) Characterization of GATA3 mutations in the hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome. J Biol Chem 279:22624-22634
-
(2004)
J Biol Chem
, vol.279
, pp. 22624-22634
-
-
Nesbit, M.A.1
Bowl, M.R.2
Harding, B.3
Ali, A.4
Ayala, A.5
Crowe, C.6
Dobbie, A.7
Hampson, G.8
Holdaway, I.9
Levine, M.A.10
McWilliams, R.11
Rigden, S.12
Sampson, J.13
Williams, A.J.14
Thakker, R.V.15
-
18
-
-
78651350094
-
Novel dominant-negative mutant of GATA3 in HDR syndrome
-
10.1007/s00109-010-0702-6
-
Ohta M, Eguchi-Ishimae M, Ohshima M, Iwabuki H, Takemoto K, Murao K, Chisaka T, Yamamoto E, Higaki T, Isoyama K, Eguchi M, Ishii E (2011) Novel dominant-negative mutant of GATA3 in HDR syndrome. J Mol Med (Berl) 89:43-50
-
(2011)
J Mol Med (Berl)
, vol.89
, pp. 43-50
-
-
Ohta, M.1
Eguchi-Ishimae, M.2
Ohshima, M.3
Iwabuki, H.4
Takemoto, K.5
Murao, K.6
Chisaka, T.7
Yamamoto, E.8
Higaki, T.9
Isoyama, K.10
Eguchi, M.11
Ishii, E.12
-
19
-
-
64949185976
-
A novel mutation in the GATA3 gene of a Japanese patient with PTH-deficient hypoparathyroidism
-
19057839 10.1007/s00774-008-0015-9 1:CAS:528:DC%2BD1MXksF2hsr4%3D
-
Saito T, Fukumoto S, Ito N, Suzuki H, Igarashi T, Fujita T (2009) A novel mutation in the GATA3 gene of a Japanese patient with PTH-deficient hypoparathyroidism. J Bone Miner Metab 27:386-389
-
(2009)
J Bone Miner Metab
, vol.27
, pp. 386-389
-
-
Saito, T.1
Fukumoto, S.2
Ito, N.3
Suzuki, H.4
Igarashi, T.5
Fujita, T.6
-
20
-
-
78650304399
-
The enhancer HS2 critically regulates GATA-3-mediated Il4 transcription in T(H)2 cells
-
21131966 10.1038/ni.1966 1:CAS:528:DC%2BC3cXhsFajurzJ
-
Tanaka S, Motomura Y, Suzuki Y, Yagi R, Inoue H, Miyatake S, Kubo M (2011) The enhancer HS2 critically regulates GATA-3-mediated Il4 transcription in T(H)2 cells. Nat Immunol 12:77-85
-
(2011)
Nat Immunol
, vol.12
, pp. 77-85
-
-
Tanaka, S.1
Motomura, Y.2
Suzuki, Y.3
Yagi, R.4
Inoue, H.5
Miyatake, S.6
Kubo, M.7
-
21
-
-
38649123703
-
Expression of mRNA for functional molecules in urinary sediment in glomerulonephritis
-
18095005 10.1007/s00467-007-0683-z
-
Tsugawa K, Oki E, Suzuki K, Imaizumi T, Ito E, Tanaka H (2008) Expression of mRNA for functional molecules in urinary sediment in glomerulonephritis. Pediatr Nephrol 23:395-401
-
(2008)
Pediatr Nephrol
, vol.23
, pp. 395-401
-
-
Tsugawa, K.1
Oki, E.2
Suzuki, K.3
Imaizumi, T.4
Ito, E.5
Tanaka, H.6
-
22
-
-
0034721115
-
GATA3 haplo-insufficiency causes human HDR syndrome
-
10935639 10.1038/35019088
-
Van Esch H, Groenen P, Nesbit MA, Schuffenhauer S, Lichtner P, Vanderlinden G, Harding B, Beetz R, Bilous RW, Holdaway I, Shaw NJ, Fryns JP, Van de Ven W, Thakker RV, Devriendt K (2000) GATA3 haplo-insufficiency causes human HDR syndrome. Nature 406:419-422
-
(2000)
Nature
, vol.406
, pp. 419-422
-
-
Van Esch, H.1
Groenen, P.2
Nesbit, M.A.3
Schuffenhauer, S.4
Lichtner, P.5
Vanderlinden, G.6
Harding, B.7
Beetz, R.8
Bilous, R.W.9
Holdaway, I.10
Shaw, N.J.11
Fryns, J.P.12
Van De Ven, W.13
Thakker, R.V.14
Devriendt, K.15
-
23
-
-
0141566876
-
Transgenic overexpression of GATA-3 in T lymphocytes improves autoimmune glomerulonephritis in mice with a BXSB/MpJ-Yaa genetic background
-
14514727 10.1097/01.ASN.0000086473.23379.25 1:CAS:528: DC%2BD3sXnt1ahtrk%3D
-
Yoh K, Shibuya K, Morito N, Nakano T, Ishizaki K, Shimohata H, Nose M, Izui S, Shibuya A, Koyama A, Engel JD, Yamamoto M, Takahashi S (2003) Transgenic overexpression of GATA-3 in T lymphocytes improves autoimmune glomerulonephritis in mice with a BXSB/MpJ-Yaa genetic background. J Am Soc Nephrol 14:2494-2502
-
(2003)
J Am Soc Nephrol
, vol.14
, pp. 2494-2502
-
-
Yoh, K.1
Shibuya, K.2
Morito, N.3
Nakano, T.4
Ishizaki, K.5
Shimohata, H.6
Nose, M.7
Izui, S.8
Shibuya, A.9
Koyama, A.10
Engel, J.D.11
Yamamoto, M.12
Takahashi, S.13
-
24
-
-
20244388392
-
Functional analysis of a novel GATA3 mutation in a family with the hypoparathyroidism, deafness, and renal dysplasia syndrome
-
15705923 10.1210/jc.2004-1969 1:CAS:528:DC%2BD2MXjsFWisL4%3D
-
Zahirieh A, Nesbit MA, Ali A, Wang K, He N, Stangou M, Bamichas G, Sombolos K, Thakker RV, Pei Y (2005) Functional analysis of a novel GATA3 mutation in a family with the hypoparathyroidism, deafness, and renal dysplasia syndrome. J Clin Endocrinol Metab 90:2445-2450
-
(2005)
J Clin Endocrinol Metab
, vol.90
, pp. 2445-2450
-
-
Zahirieh, A.1
Nesbit, M.A.2
Ali, A.3
Wang, K.4
He, N.5
Stangou, M.6
Bamichas, G.7
Sombolos, K.8
Thakker, R.V.9
Pei, Y.10
|