Literature DB >> 17309062

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.

Alba M Hernández1, Manuela Villamar, Lidia Roselló, Miguel A Moreno-Pelayo, Felipe Moreno, Ignacio Del Castillo.   

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Year:  2007        PMID： 17309062     DOI： 10.1002/ajmg.a.31617

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  12 in total

1.  Novel dominant-negative mutant of GATA3 in HDR syndrome.

Authors:  Masaaki Ohta; Minenori Eguchi-Ishimae; Mayumi Ohshima; Hidehiko Iwabuki; Koji Takemoto; Kikuko Murao; Toshiyuki Chisaka; Eiichi Yamamoto; Takashi Higaki; Keiichi Isoyama; Mariko Eguchi; Eiichi Ishii
Journal:  J Mol Med (Berl)       Date:  2010-12-01       Impact factor: 4.599

2.  Novel DNA mutation in the GATA3 gene in an Emirati boy with HDR syndrome and hypomagnesemia.

Authors:  Amar Al-Shibli; Ibrahim Al Attrach; Patrick J Willems
Journal:  Pediatr Nephrol       Date:  2011-03-12       Impact factor: 3.714

3.  Hypoparathyroidism, sensorineural deafness, and renal dysgenesis syndrome with a GATA3 mutation.

Authors:  Yong Suk Shim; Woohyeok Choi; Il Tae Hwang; Seung Yang
Journal:  Ann Pediatr Endocrinol Metab       Date:  2015-03-31

4.  The First Turkish Case of Hypoparathyroidism, Deafness and Renal Dysplasia (HDR) Syndrome.

Authors:  Hakan Döneray; Takeshi Usui; Avni Kaya; Ayşe Sena Dönmez
Journal:  J Clin Res Pediatr Endocrinol       Date:  2015-06

5.  Changes in the gene expression programs of renal mesangial cells during diabetic nephropathy.

Authors:  Eric W Brunskill; S Steven Potter
Journal:  BMC Nephrol       Date:  2012-07-28       Impact factor: 2.388

6.  Ahsa1 and Hsp90 activity confers more severe craniofacial phenotypes in a zebrafish model of hypoparathyroidism, sensorineural deafness and renal dysplasia (HDR).

Authors:  Kelly Sheehan-Rooney; Mary E Swartz; Feng Zhao; Dong Liu; Johann K Eberhart
Journal:  Dis Model Mech       Date:  2013-05-29       Impact factor: 5.758

7.  Gata3 acts downstream of beta-catenin signaling to prevent ectopic metanephric kidney induction.

Authors:  David Grote; Sami Kamel Boualia; Abdallah Souabni; Calli Merkel; Xuan Chi; Frank Costantini; Thomas Carroll; Maxime Bouchard
Journal:  PLoS Genet       Date:  2008-12-26       Impact factor: 5.917

8.  A Novel De Novo GATA Binding Protein 3 Mutation in a Turkish Boy with Hypoparathyroidism, Deafness, and Renal Dysplasia Syndrome.

Authors:  Gül Yeşiltepe Mutlu; Heves Kırmızıbekmez; Akie Nakamura; Maki Fukami; Şükrü Hatun
Journal:  J Clin Res Pediatr Endocrinol       Date:  2015-12

9.  HDR syndrome in a Japanese girl with biliary atresia: a case report.

Authors:  Yousuke Higuchi; Kosei Hasegawa; Miho Yamashita; Yousuke Fujii; Hiroyuki Tanaka; Hirokazu Tsukahara
Journal:  BMC Pediatr       Date:  2016-01-22       Impact factor: 2.125

10.  HDR syndrome with a novel mutation in GATA3 mimicking a congenital X-linked stapes gusher: a case report.

Authors:  Aram Yang; Jinsup Kim; Chang-Seok Ki; Sung Hwa Hong; Sung Yoon Cho; Dong-Kyu Jin
Journal:  BMC Med Genet       Date:  2017-10-26       Impact factor: 2.103
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