Literature DB >> 1338905

Dominant negative mutations in the Wilms tumour (WT1) gene cause Denys-Drash syndrome--proof that a tumour-suppressor gene plays a crucial role in normal genitourinary development.

N D Hastie1.   

Abstract

Entities:  

Mesh：

Substances：

Year:  1992        PMID： 1338905     DOI： 10.1093/hmg/1.5.293

Source DB:  PubMed          Journal:  Hum Mol Genet        ISSN： 0964-6906            Impact factor:   6.150


× No keyword cloud information.
  11 in total

1.  Microdissecting the genetic events in nephrogenic rests and Wilms' tumor development.

Authors:  A K Charles; K W Brown; P J Berry
Journal:  Am J Pathol       Date:  1998-09       Impact factor: 4.307

Review 2.  The molecular basis of genetic dominance.

Authors:  A O Wilkie
Journal:  J Med Genet       Date:  1994-02       Impact factor: 6.318

3.  Colocalization of WT1 and cell proliferation reveals conserved mechanisms in temperature-dependent sex determination.

Authors:  Jennifer Schmahl; Humphrey H Yao; Fernando Pierucci-Alves; Blanche Capel
Journal:  Genesis       Date:  2003-04       Impact factor: 2.487

4.  Loss of mitogen-activated protein kinase kinase kinase 4 (MAP3K4) reveals a requirement for MAPK signalling in mouse sex determination.

Authors:  Debora Bogani; Pam Siggers; Rachel Brixey; Nick Warr; Sarah Beddow; Jessica Edwards; Debbie Williams; Dagmar Wilhelm; Peter Koopman; Richard A Flavell; Hongbo Chi; Harry Ostrer; Sara Wells; Michael Cheeseman; Andy Greenfield
Journal:  PLoS Biol       Date:  2009-09-15       Impact factor: 8.029

Review 5.  The expanding phenotypic spectra of kidney diseases: insights from genetic studies.

Authors:  Marijn F Stokman; Kirsten Y Renkema; Rachel H Giles; Franz Schaefer; Nine V A M Knoers; Albertien M van Eerde
Journal:  Nat Rev Nephrol       Date:  2016-07-04       Impact factor: 28.314

Review 6.  The new dysmorphology: application of insights from basic developmental biology to the understanding of human birth defects.

Authors:  C J Epstein
Journal:  Proc Natl Acad Sci U S A       Date:  1995-09-12       Impact factor: 11.205

7.  Correct dosage of Fog2 and Gata4 transcription factors is critical for fetal testis development in mice.

Authors:  Gerrit J Bouma; Linda L Washburn; Kenneth H Albrecht; Eva M Eicher
Journal:  Proc Natl Acad Sci U S A       Date:  2007-09-11       Impact factor: 11.205

8.  Mutations in MAP3K1 cause 46,XY disorders of sex development and implicate a common signal transduction pathway in human testis determination.

Authors:  Alexander Pearlman; Johnny Loke; Cedric Le Caignec; Stefan White; Lisa Chin; Andrew Friedman; Nicholas Warr; John Willan; David Brauer; Charles Farmer; Eric Brooks; Carole Oddoux; Bridget Riley; Shahin Shajahan; Giovanna Camerino; Tessa Homfray; Andrew H Crosby; Jenny Couper; Albert David; Andy Greenfield; Andrew Sinclair; Harry Ostrer
Journal:  Am J Hum Genet       Date:  2010-12-10       Impact factor: 11.025

9.  Distinct epigenomic patterns are associated with haploinsufficiency and predict risk genes of developmental disorders.

Authors:  Xinwei Han; Siying Chen; Elise Flynn; Shuang Wu; Dana Wintner; Yufeng Shen
Journal:  Nat Commun       Date:  2018-05-30       Impact factor: 14.919

Review 10.  The genetic architecture of aniridia and Gillespie syndrome.

Authors:  Hildegard Nikki Hall; Kathleen A Williamson; David R FitzPatrick
Journal:  Hum Genet       Date:  2018-09-22       Impact factor: 4.132
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.