Literature DB >> 8386697

Distinct molecular origins for Denys-Drash and Frasier syndromes.

F Poulat1, D Morin, A König, P Brun, J Giltay, C Sultan, R Dumas, M Gessler, P Berta.   

Abstract

The direct involvement of the Wilm's tumor suppressor gene (WT1) in Denys-Drash syndrome through mutations within exons 8 or 9 has recently been established. The absence of such alterations in three patients with Frasier syndrome provides a molecular basis for distinguishing these two syndromes that are associated with streak gonads, pseudohermaphroditism and renal failure.

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Year:  1993        PMID： 8386697     DOI： 10.1007/bf00218274

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  9 in total

1.  GONADOBLASTOMA ASSOCIATED WITH PURE GONADAL DYSGENESIS IN MONOZYGOUS TWINS.

Authors:  S D FRASIER; R A BASHORE; H D MOSIER
Journal:  J Pediatr       Date:  1964-05       Impact factor: 4.406

2.  Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction.

Authors:  M Orita; Y Suzuki; T Sekiya; K Hayashi
Journal:  Genomics       Date:  1989-11       Impact factor: 5.736

3.  The genomic organization and expression of the WT1 gene.

Authors:  M Gessler; A König; G A Bruns
Journal:  Genomics       Date:  1992-04       Impact factor: 5.736

4.  Optimal conditions for directly sequencing double-stranded PCR products with sequenase.

Authors:  J L Casanova; C Pannetier; C Jaulin; P Kourilsky
Journal:  Nucleic Acids Res       Date:  1990-07-11       Impact factor: 16.971

5.  DNA sequence polymorphisms in Alu repeats.

Authors:  M Orita; T Sekiya; K Hayashi
Journal:  Genomics       Date:  1990-10       Impact factor: 5.736

6.  A syndrome of pseudohermaphroditism, Wilms' tumor, hypertension, and degenerative renal disease.

Authors:  A Drash; F Sherman; W H Hartmann; R M Blizzard
Journal:  J Pediatr       Date:  1970-04       Impact factor: 4.406

Review 7.  Chronic renal failure and XY gonadal dysgenesis: "Frasier" syndrome--a commentary on reported cases.

Authors:  A V Moorthy; R W Chesney; M Lubinsky
Journal:  Am J Med Genet Suppl       Date:  1987

8.  Germline mutations in the Wilms' tumor suppressor gene are associated with abnormal urogenital development in Denys-Drash syndrome.

Authors:  J Pelletier; W Bruening; C E Kashtan; S M Mauer; J C Manivel; J E Striegel; D C Houghton; C Junien; R Habib; L Fouser
Journal:  Cell       Date:  1991-10-18       Impact factor: 41.582

9.  Molecular analysis of the sex-determining region from the Y chromosome in two patients with Frasier syndrome.

Authors:  P Berta; D Morin; F Poulat; S Taviaux; J M Lobaccaro; C Sultan; R Dumas
Journal:  Horm Res       Date:  1992
  9 in total
  4 in total

Review 1.  The Denys-Drash syndrome.

Authors:  R F Mueller
Journal:  J Med Genet       Date:  1994-06       Impact factor: 6.318

2.  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

3.  Software and database for the analysis of mutations in the human WT1 gene.

Authors:  C Jeanpierre; C Béroud; P Niaudet; C Junien
Journal:  Nucleic Acids Res       Date:  1998-01-01       Impact factor: 16.971

4.  WT1 mutations in patients with Denys-Drash syndrome: a novel mutation in exon 8 and paternal allele origin.

Authors:  A Nordenskjöld; E Friedman; M Anvret
Journal:  Hum Genet       Date:  1994-02       Impact factor: 4.132
  4 in total

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