Literature DB >> 7663516

Mapping of the congenital generalized hypertrichosis locus to chromosome Xq24-q27.1.

L E Figuera1, M Pandolfo, P W Dunne, J M Cantú, P I Patel.   

Abstract

Congenital generalized hypertrichosis (CGH) is a rare, fully penetrant X-linked dominant trait previously described in a single, multigenerational Mexican family. CGH is a visually striking phenotype characterized by excessive facial and upper torso hair in males and by less severe asymmetric hairiness in females. We have found significant evidence for linkage with several markers from the long arm of the X chromosome. Recombinant chromosomes place the CGH gene within a 22 cM interval between DXS425 and DXS1227 in Xq24-Xq27.1. The localization of a gene for CGH represents the first step towards the isolation of genes involved in hair growth pattern, particularly those involved in restriction of areas in humans.

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Year:  1995        PMID: 7663516     DOI: 10.1038/ng0695-202

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


  11 in total

1.  High-resolution landmark framework for the sequence-ready mapping of Xq23-q26.1.

Authors:  H E Steingruber; A Dunham; A J Coffey; S M Clegg; G R Howell; G L Maslen; C E Scott; R Gwilliam; P J Hunt; E C Sotheran; E J Huckle; S E Hunt; P Dhami; C Soderlund; M A Leversha; D R Bentley; M T Ross
Journal:  Genome Res       Date:  1999-08       Impact factor: 9.043

2.  X-linked congenital hypertrichosis syndrome is associated with interchromosomal insertions mediated by a human-specific palindrome near SOX3.

Authors:  Hongwen Zhu; Dandan Shang; Miao Sun; Sunju Choi; Qing Liu; Jiajie Hao; Luis E Figuera; Feng Zhang; Kwong Wai Choy; Yang Ao; Yang Liu; Xiao-Lin Zhang; Fengzhen Yue; Ming-Rong Wang; Li Jin; Pragna I Patel; Tao Jing; Xue Zhang
Journal:  Am J Hum Genet       Date:  2011-06-10       Impact factor: 11.025

3.  Atavisms in homo sapiens: a Bolkian heterodoxy revisited.

Authors:  J Verhulst
Journal:  Acta Biotheor       Date:  1996-03       Impact factor: 1.774

4.  Copy-number mutations on chromosome 17q24.2-q24.3 in congenital generalized hypertrichosis terminalis with or without gingival hyperplasia.

Authors:  Miao Sun; Ning Li; Wu Dong; Zugen Chen; Qing Liu; Yiming Xu; Guang He; Yongyong Shi; Xin Li; Jiajie Hao; Yang Luo; Dandan Shang; Dan Lv; Fen Ma; Dai Zhang; Rui Hua; Chaoxia Lu; Yaran Wen; Lihua Cao; Alan D Irvine; W H Irwin McLean; Qi Dong; Ming-Rong Wang; Jun Yu; Lin He; Wilson H Y Lo; Xue Zhang
Journal:  Am J Hum Genet       Date:  2009-05-21       Impact factor: 11.025

Review 5.  [Genetic hair diseases. An update].

Authors:  J Frank; P Poblete-Gutiérrez; K Giehl
Journal:  Hautarzt       Date:  2013-11       Impact factor: 0.751

6.  Molecular analysis of deletion (17)(p11.2p11.2) in a family segregating a 17p paracentric inversion: implications for carriers of paracentric inversions.

Authors:  S P Yang; S I Bidichandani; L E Figuera; R C Juyal; P J Saxon; A Baldini; P I Patel
Journal:  Am J Hum Genet       Date:  1997-05       Impact factor: 11.025

Review 7.  Evolution in health and medicine Sackler colloquium: Genomic disorders: a window into human gene and genome evolution.

Authors:  Claudia M B Carvalho; Feng Zhang; James R Lupski
Journal:  Proc Natl Acad Sci U S A       Date:  2010-01-13       Impact factor: 11.205

8.  A position effect on TRPS1 is associated with Ambras syndrome in humans and the Koala phenotype in mice.

Authors:  Katherine A Fantauzzo; Marija Tadin-Strapps; Yun You; Sarah E Mentzer; Friedrich A M Baumeister; Stefano Cianfarani; Lionel Van Maldergem; Dorothy Warburton; John P Sundberg; Angela M Christiano
Journal:  Hum Mol Genet       Date:  2008-08-19       Impact factor: 6.150

9.  Congenital Generalized Hypertrichosis, Gingival Hyperplasia, a Coarse Facies with Constriction Bands: A Rare Association.

Authors:  Aditya Kumar Bubna; Mahalakshmi Veeraraghavan; Sankarasubramaniam Anandan; Sudha Rangarajan
Journal:  Int J Trichology       Date:  2015 Apr-Jun

Review 10.  Congenital generalized hypertrichosis: the skin as a clue to complex malformation syndromes.

Authors:  Piero Pavone; Andrea D Praticò; Raffaele Falsaperla; Martino Ruggieri; Marcella Zollino; Giovanni Corsello; Giovanni Neri
Journal:  Ital J Pediatr       Date:  2015-08-05       Impact factor: 2.638

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