Literature DB >> 17114920

A novel heterozygous deletion frameshift mutation of GATA3 in a Japanese kindred with the hypoparathyroidism, deafness and renal dysplasia syndrome.

H Kobayashi, M Kasahara, M Hino, H Yoshimura, S Takahara, K Ikeda, C Son, T Iwakura, A Yoshimoto, T Ishihara, Y Ogawa.   

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Year:  2006        PMID： 17114920     DOI： 10.1007/BF03347383

Source DB:  PubMed          Journal:  J Endocrinol Invest        ISSN： 0391-4097            Impact factor:   4.256


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  13 in total

1.  GATA3 abnormalities and the phenotypic spectrum of HDR syndrome.

Authors:  K Muroya; T Hasegawa; Y Ito; T Nagai; H Isotani; Y Iwata; K Yamamoto; S Fujimoto; S Seishu; Y Fukushima; Y Hasegawa; T Ogata
Journal:  J Med Genet       Date:  2001-06       Impact factor: 6.318

2.  GATA3 haplo-insufficiency causes human HDR syndrome.

Authors:  H Van Esch; P Groenen; M A Nesbit; S Schuffenhauer; P Lichtner; G Vanderlinden; B Harding; R Beetz; R W Bilous; I Holdaway; N J Shaw; J P Fryns; W Van de Ven; R V Thakker; K Devriendt
Journal:  Nature       Date:  2000-07-27       Impact factor: 49.962

3.  The GATA-3 gene is expressed during human kidney embryogenesis.

Authors:  M C Labastie; M Catala; J M Gregoire; B Peault
Journal:  Kidney Int       Date:  1995-06       Impact factor: 10.612

4.  Partial DiGeorge syndrome in two patients with a 10p rearrangement.

Authors:  H Van Esch; P Groenen; S Daw; A Poffyn; M Holvoet; P Scambler; J P Fryns; W Van de Ven; K Devriendt
Journal:  Clin Genet       Date:  1999-04       Impact factor: 4.438

5.  FOG, a multitype zinc finger protein, acts as a cofactor for transcription factor GATA-1 in erythroid and megakaryocytic differentiation.

Authors:  A P Tsang; J E Visvader; C A Turner; Y Fujiwara; C Yu; M J Weiss; M Crossley; S H Orkin
Journal:  Cell       Date:  1997-07-11       Impact factor: 41.582

6.  Functional analysis of a novel GATA3 mutation in a family with the hypoparathyroidism, deafness, and renal dysplasia syndrome.

Authors:  Alireza Zahirieh; M Andrew Nesbit; Asif Ali; Kairong Wang; Ning He; Maria Stangou; Gerasimos Bamichas; Kostas Sombolos; Rajesh V Thakker; York Pei
Journal:  J Clin Endocrinol Metab       Date:  2005-02-10       Impact factor: 5.958

7.  Targeted disruption of the GATA3 gene causes severe abnormalities in the nervous system and in fetal liver haematopoiesis.

Authors:  P P Pandolfi; M E Roth; A Karis; M W Leonard; E Dzierzak; F G Grosveld; J D Engel; M H Lindenbaum
Journal:  Nat Genet       Date:  1995-09       Impact factor: 38.330

8.  FOG-2: A novel GATA-family cofactor related to multitype zinc-finger proteins Friend of GATA-1 and U-shaped.

Authors:  S G Tevosian; A E Deconinck; A B Cantor; H I Rieff; Y Fujiwara; G Corfas; S H Orkin
Journal:  Proc Natl Acad Sci U S A       Date:  1999-02-02       Impact factor: 11.205

9.  Molecular cloning of FOG-2: a modulator of transcription factor GATA-4 in cardiomyocytes.

Authors:  E C Svensson; R L Tufts; C E Polk; J M Leiden
Journal:  Proc Natl Acad Sci U S A       Date:  1999-02-02       Impact factor: 11.205

10.  Characterization of GATA3 mutations in the hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome.

Authors:  M Andrew Nesbit; Michael R Bowl; Brian Harding; Asif Ali; Alejandro Ayala; Carol Crowe; Angus Dobbie; Geeta Hampson; Ian Holdaway; Michael A Levine; Robert McWilliams; Susan Rigden; Julian Sampson; Andrew J Williams; Rajesh V Thakker
Journal:  J Biol Chem       Date:  2004-02-24       Impact factor: 5.157
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  3 in total

1.  Renal phenotypic variability in HDR syndrome: glomerular nephropathy as a novel finding.

Authors:  Alexis Chenouard; Bertrand Isidor; Emma Allain-Launay; Anne Moreau; Marc Le Bideau; Gwenaelle Roussey
Journal:  Eur J Pediatr       Date:  2012-10-05       Impact factor: 3.183

2.  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

3.  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
  3 in total

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