-
1
-
-
0026728345
-
autosomal dominant familial hypoparathyroidism, sensorineural deafness, and renal dysplasia
-
Bilous RW, Murty G, Parkinson DB, Thakker RV, Coulthard MG, Burn J, Mathias D, Kendall-Taylor P (1992) 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
-
2
-
-
0034721115
-
GATA3 haplo-insufficiency causes human HDR syndrome
-
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
-
3
-
-
0034979425
-
GATA3 abnormalities and the phenotypic spectrum of HDR syndrome
-
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
-
4
-
-
0029047090
-
The GATA3 gene is expressed during human kidney embryogenesis
-
Labastie MC, Catala M, Gregoire JM, Peault B (1995) The GATA3 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
-
5
-
-
0033166970
-
Embryonic expression of the human GATA3 gene
-
Debacker C, Catala M, Labastie MC (1999) Embryonic expression of the human GATA3 gene. Mech Dev 85: 183-187.
-
(1999)
Mech Dev
, vol.85
, pp. 183-187
-
-
Debacker, C.1
Catala, M.2
Labastie, M.C.3
-
6
-
-
20244388392
-
Functional analysis of a novel GATA3 mutation in a family with the hypoparathyroidism, deafness, and renal dysplasia syndrome
-
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
Ma, N.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
-
7
-
-
34247249253
-
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
-
Hernández AM, Villamar M, Roselló L, Moreno-Pelayo MA, Moreno F, Del Castillo I (2007) 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. Am J Med Genet A 143: 757-762.
-
(2007)
Am J Med Genet A
, vol.143
, pp. 757-762
-
-
Hernández, A.M.1
Villamar, M.2
Roselló, L.3
Moreno-Pelayo, M.A.4
Moreno, F.5
Del Castillo, I.6
-
8
-
-
32944459130
-
A novel mutation in the GATA3 gene in a family with DHR syndrome (hypoparathyroidism, sensorineural deafness and renal anomaly syndrome)
-
Adachi M, Tachibana K, Asakura Y, Tsuchiya T (2006) A novel mutation in the GATA3 gene in a family with DHR 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
-
9
-
-
2542471328
-
Characterization of GATA3 mutations in the hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome
-
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
Ma, L.10
McWilliams, R.11
Rigden, S.12
Sampson, J.13
Williams, A.J.14
Thakker, R.V.15
-
10
-
-
33847303673
-
-
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.
-
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.
-
-
-
-
11
-
-
0028364528
-
Structure and expression of the human GATA3 gene
-
Labastie MC, Bories D, Chabret C, Grégoire JM, Chrétien S, Roméo PH (1994) Structure and expression of the human GATA3 gene. Genomics 21: 1-6.
-
(1994)
Genomics
, vol.21
, pp. 1-6
-
-
Labastie, M.C.1
Bories, D.2
Chabret, C.3
Grégoire, J.M.4
Chrétien, S.5
Roméo, P.H.6
-
12
-
-
0032992351
-
Expression of the transcription factor GATA-3 is required for the development of the earliest T cell progenitors and correlates with stages of cellular proliferation in the thymus
-
Hendriks RW, Nawijn MC, Engel JD, van Doorninck H, Grosveld F, Karis A (1999) Expression of the transcription factor GATA-3 is required for the development of the earliest T cell progenitors and correlates with stages of cellular proliferation in the thymus. Eur J Immunol 29: 1912-1918.
-
(1999)
Eur J Immunol
, vol.29
, pp. 1912-1918
-
-
Hendriks, R.W.1
Nawijn, M.C.2
Engel, J.D.3
van Doorninck, H.4
Grosveld, F.5
Karis, A.6
-
13
-
-
77649220610
-
Type 1 diabetes mellitus
-
Kronenberg HM, Melmed S, Polonsky KS, Larsen PR eds, 11th ed. W.B. Saunders, Philadelphia, pp
-
th ed. W.B. Saunders, Philadelphia, pp 1391-1416.
-
(2008)
Williams textbook of endocrinology
, pp. 1391-1416
-
-
Eisenabrth, G.S.1
Polonsky, K.S.2
Buse, J.B.3
-
14
-
-
33746224027
-
Applying nonsense-mediated mRNA decay research to the clinic: Progress and challenges
-
Kuzmiak HA, Maquat LE (2006) Applying nonsense-mediated mRNA decay research to the clinic: progress and challenges. Trends Mol Med 12: 306-316.
-
(2006)
Trends Mol Med
, vol.12
, pp. 306-316
-
-
Kuzmiak, H.A.1
Maquat, L.E.2
|