Literature DB >> 16303781

A novel WT1 missense mutation presenting with Denys-Drash syndrome and cortical atrophy.

Valérie Schumacher1, Julia Thumfart, Matthias Drechsler, Maximillian Essayie, Brigitte Royer-Pokora, Uwe Querfeld, Dominik Müller.   

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Year:  2005        PMID： 16303781     DOI： 10.1093/ndt/gfi285

Source DB:  PubMed          Journal:  Nephrol Dial Transplant        ISSN： 0931-0509            Impact factor:   5.992


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  4 in total

1.  A novel WT1 gene mutation in a patient with Wilms' tumor and 46, XY gonadal dysgenesis.

Authors:  Dong-Gi Lee; Deok Hyun Han; Kwan Hyun Park; Minki Baek
Journal:  Eur J Pediatr       Date:  2011-03-08       Impact factor: 3.183

2.  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

3.  Denys-Drash syndrome associated WT1 glutamine 369 mutants have altered sequence-preferences and altered responses to epigenetic modifications.

Authors:  Hideharu Hashimoto; Xing Zhang; Yu Zheng; Geoffrey G Wilson; Xiaodong Cheng
Journal:  Nucleic Acids Res       Date:  2016-09-04       Impact factor: 16.971

4.  Role for first zinc finger of WT1 in DNA sequence specificity: Denys-Drash syndrome-associated WT1 mutant in ZF1 enhances affinity for a subset of WT1 binding sites.

Authors:  Dongxue Wang; John R Horton; Yu Zheng; Robert M Blumenthal; Xing Zhang; Xiaodong Cheng
Journal:  Nucleic Acids Res       Date:  2018-05-04       Impact factor: 16.971
  4 in total

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