Literature DB >> 7959750

WT1 mutations associated with incomplete Denys-Drash syndrome define a domain predicted to behave in a dominant-negative fashion.

N Bardeesy1, B Zabel, K Schmitt, J Pelletier.   

Abstract

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Year:  1994        PMID： 7959750     DOI： 10.1006/geno.1994.1333

Source DB:  PubMed          Journal:  Genomics        ISSN： 0888-7543            Impact factor:   5.736


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  15 in total

Review 1.  Frasier and Denys-Drash syndromes: different disorders or part of a spectrum?

Authors:  A Koziell; R Grundy
Journal:  Arch Dis Child       Date:  1999-10       Impact factor: 3.791

2.  [Denys-Drash syndrome. Experience gathered in Erlangen illustrated by two case reports].

Authors:  V Zugor; M Zenker; J Dötsch; K M Schrott; G E Schott
Journal:  Urologe A       Date:  2005-10       Impact factor: 0.639

3.  Antagonism of WT1 activity by protein self-association.

Authors:  P Moffett; W Bruening; H Nakagama; N Bardeesy; D Housman; D E Housman; J Pelletier
Journal:  Proc Natl Acad Sci U S A       Date:  1995-11-21       Impact factor: 11.205

4.  Do intronic mutations affecting splicing of WT1 exon 9 cause Frasier syndrome?

Authors:  H Kikuchi; A Takata; Y Akasaka; R Fukuzawa; H Yoneyama; Y Kurosawa; M Honda; Y Kamiyama; J Hata
Journal:  J Med Genet       Date:  1998-01       Impact factor: 6.318

5.  A novel WT1 heterozygous nonsense mutation (p.K248X) causing a mild and slightly progressive nephropathy in a 46,XY patient with Denys-Drash syndrome.

Authors:  Thatiana Evilen da Silva; Mirian Yumie Nishi; Elaine Maria Frade Costa; Regina Matsunaga Martin; Filomena Marino Carvalho; Berenice Bilharinho Mendonca; Sorahia Domenice
Journal:  Pediatr Nephrol       Date:  2011-05-11       Impact factor: 3.714

Review 6.  A WT1 exon 1 mutation in a child diagnosed with Denys-Drash syndrome.

Authors:  Suzanne Little; Sandra Hanks; Linda King-Underwood; Sue Picton; Catherine Cullinane; Elizabeth Rapley; Nazneen Rahman; Kathy Pritchard-Jones
Journal:  Pediatr Nephrol       Date:  2004-10-21       Impact factor: 3.714

Review 7.  WT1 and glomerular diseases.

Authors:  Patrick Niaudet; Marie-Claire Gubler
Journal:  Pediatr Nephrol       Date:  2006-08-23       Impact factor: 3.714

8.  A familial WT1 mutation associated with incomplete Denys-Drash syndrome.

Authors:  Chunhua Zhu; Fei Zhao; Weizhen Zhang; Hongmei Wu; Ying Chen; Guixia Ding; Aihua Zhang; Songming Huang
Journal:  Eur J Pediatr       Date:  2013-05-29       Impact factor: 3.183

9.  Nephropathy with Wilms tumour or gonadal dysgenesis: incomplete Denys-Drash syndrome or separate diseases?

Authors:  K Schmitt; B Zabel; G Tulzer; F Eitelberger; J Pelletier
Journal:  Eur J Pediatr       Date:  1995-07       Impact factor: 3.183

10.  A novel WT1 mutation in a 46,XY boy with congenital bilateral cryptorchidism, nystagmus and Wilms tumor.

Authors:  Monica Terenziani; Michele Sardella; Beatrice Gamba; Maria Adele Testi; Filippo Spreafico; Gianluigi Ardissino; Fausto Fedeli; Franca Fossati-Bellani; Paolo Radice; Daniela Perotti
Journal:  Pediatr Nephrol       Date:  2008-12-02       Impact factor: 3.714
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