Literature DB >> 9350000

Cowden's disease with a defined genetic alteration--chromosomal duplication at 15q11-q13.

T Suzuki1, M Ichinose, Y Matsubara, N Yahagi, K Kurokawa, H Fukamachi, K Miki.   

Abstract

Cowden's disease, multiple hamartoma syndrome, is a dominantly inherited disorder characterized by multiple hamartomas of ectodermal, endodermal, and mesodermal origin and also by a high incidence of malignant tumors. Despite many efforts to identify the genetic alterations responsible for the syndrome, the molecular mechanism remains unclear. We report a case of Cowden's disease in which karyotype analysis revealed a small duplication (about 1 Mb) at 15q11-q13. This part of the genome is a region that is deleted in the Prader-Willi/Angelman syndrome and is a "hot spot" of chromosomal duplication.

Entities:  

Mesh：

Year:  1997        PMID： 9350000     DOI： 10.1007/bf02934124

Source DB:  PubMed          Journal:  J Gastroenterol        ISSN： 0944-1174            Impact factor:   7.527


  10 in total

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Authors:  W Williard; P Borgen; R Bol; R Tiwari; M Osborne
Journal:  Cancer       Date:  1992-06-15       Impact factor: 6.860

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Authors:  J A Crolla; J F Harvey; F L Sitch; N R Dennis
Journal:  Hum Genet       Date:  1995-02       Impact factor: 4.132

Review 4.  A genetic model for colorectal tumorigenesis.

Authors:  E R Fearon; B Vogelstein
Journal:  Cell       Date:  1990-06-01       Impact factor: 41.582

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Authors:  S Malcolm; T A Donlon
Journal:  Cytogenet Cell Genet       Date:  1994

6.  Physical mapping studies at D15S10: implications for candidate gene identification in the Angelman syndrome/Prader-Willi syndrome chromosome region of 15q11-q13.

Authors:  T Woodage; R Lindeman; Z M Deng; A Fimmel; A Smith; R J Trent
Journal:  Genomics       Date:  1994-01-01       Impact factor: 5.736

7.  The HPV-16 E6 and E6-AP complex functions as a ubiquitin-protein ligase in the ubiquitination of p53.

Authors:  M Scheffner; J M Huibregtse; R D Vierstra; P M Howley
Journal:  Cell       Date:  1993-11-05       Impact factor: 41.582

Review 8.  Genomic imprinting and candidate genes in the Prader-Willi and Angelman syndromes.

Authors:  R D Nicholls
Journal:  Curr Opin Genet Dev       Date:  1993-06       Impact factor: 5.578

9.  Small nuclear ribonucleoprotein polypeptide N (SNRPN), an expressed gene in the Prader-Willi syndrome critical region.

Authors:  T Ozçelik; S Leff; W Robinson; T Donlon; M Lalande; E Sanjines; A Schinzel; U Francke
Journal:  Nat Genet       Date:  1992-12       Impact factor: 38.330

10.  The Cowden syndrome: a clinical and genetic study in 21 patients.

Authors:  T M Starink; J P van der Veen; F Arwert; L P de Waal; G G de Lange; J J Gille; A W Eriksson
Journal:  Clin Genet       Date:  1986-03       Impact factor: 4.438
  10 in total
  1 in total

Review 1.  An alternative approach to medical genetics based on modern evolutionary biology. Part 5: epigenetics and genomics.

Authors:  Frank P Ryan
Journal:  J R Soc Med       Date:  2009-12       Impact factor: 5.344
  1 in total

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