Literature DB >> 8499949

Multiple self-healing squamous epitheliomata (ESS1) mapped to chromosome 9q22-q31 in families with common ancestry.

D R Goudie1, M A Yuille, M A Leversha, R A Furlong, N P Carter, M J Lush, N A Affara, M A Ferguson-Smith.   

Abstract

A gene (ESS1) predisposing to the development of multiple invasive but self-healing skin tumours (squamous cell epitheliomata) is tightly linked to the polymorphic DNA marker D9S53 (9q31) with a maximum lod score of 9.02 at a recombination fraction of 0.03. Multipoint linkage analysis demonstrates that the disease locus is most likely to lie between D9S58 (9q22.3-31) and ASSP3 (9q11-q22). Comparison of markers associated with ESS1 in independently ascertained families suggests a common origin of the disease and defines the location of ESS1. Haplotype studies indicate that the disease locus is most likely to lie between D9S29 (9q31) and D9S1 (9q22.1-q22.2).

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Year:  1993        PMID: 8499949     DOI: 10.1038/ng0293-165

Source DB:  PubMed          Journal:  Nat Genet        ISSN: 1061-4036            Impact factor:   38.330


  13 in total

Review 1.  Erasing the methyl mark: histone demethylases at the center of cellular differentiation and disease.

Authors:  Paul A C Cloos; Jesper Christensen; Karl Agger; Kristian Helin
Journal:  Genes Dev       Date:  2008-05-01       Impact factor: 11.361

Review 2.  Sunlight and skin cancer: another link revealed.

Authors:  K H Kraemer
Journal:  Proc Natl Acad Sci U S A       Date:  1997-01-07       Impact factor: 11.205

3.  Coincidence painting: a rapid method for cloning region specific DNA sequences.

Authors:  D M Bailey; N P Carter; D de Vos; M A Leversha; M T Perryman; M A Ferguson-Smith
Journal:  Nucleic Acids Res       Date:  1993-11-11       Impact factor: 16.971

4.  Analysis of four microsatellite markers on the long arm of chromosome 9 by meiotic recombination in flow-sorted single sperm.

Authors:  R A Furlong; D R Goudie; N P Carter; J E Lyall; N A Affara; M A Ferguson-Smith
Journal:  Am J Hum Genet       Date:  1993-06       Impact factor: 11.025

5.  Localization of the gene for the nevoid basal cell carcinoma syndrome.

Authors:  A M Goldstein; C Stewart; A E Bale; S J Bale; M Dean
Journal:  Am J Hum Genet       Date:  1994-05       Impact factor: 11.025

6.  Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGFBR1.

Authors:  David R Goudie; Mariella D'Alessandro; Barry Merriman; Hane Lee; Ildikó Szeverényi; Stuart Avery; Brian D O'Connor; Stanley F Nelson; Stephanie E Coats; Arlene Stewart; Lesley Christie; Gabriella Pichert; Jean Friedel; Ian Hayes; Nigel Burrows; Sean Whittaker; Anne-Marie Gerdes; Sigurd Broesby-Olsen; Malcolm A Ferguson-Smith; Chandra Verma; Declan P Lunny; Bruno Reversade; E Birgitte Lane
Journal:  Nat Genet       Date:  2011-02-27       Impact factor: 38.330

7.  Genetic mapping of the FACC gene and linkage analysis in Fanconi anaemia families.

Authors:  R A Gibson; D Ford; S Jansen; A Savoia; C Havenga; R D Milner; T J de Ravel; R J Cohn; S E Ball; I Roberts
Journal:  J Med Genet       Date:  1994-11       Impact factor: 6.318

8.  Multiple self-healing squamous epithelioma (MSSE): rare variants in an adjacent region of chromosome 9q22.3 to known TGFBR1 mutations suggest a digenic or multilocus etiology.

Authors:  Hio Chung Kang; David A Quigley; Il-Jin Kim; Yuichi Wakabayashi; Malcolm A Ferguson-Smith; Mariella D'Alessandro; E Birgitte Lane; Rosemary J Akhurst; David R Goudie; Allan Balmain
Journal:  J Invest Dermatol       Date:  2013-01-28       Impact factor: 8.551

9.  Differential allele loss on chromosome 9q22.3 in human non-melanoma skin cancer.

Authors:  E Holmberg; B L Rozell; R Toftgård
Journal:  Br J Cancer       Date:  1996-07       Impact factor: 7.640

10.  Loss of heterozygosity analysis of keratoacanthoma reveals multiple differences from cutaneous squamous cell carcinoma.

Authors:  A J Waring; M Takata; I Rehman; J L Rees
Journal:  Br J Cancer       Date:  1996-03       Impact factor: 7.640

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