Literature DB >> 12891384

A locus for hereditary hypotrichosis localized to human chromosome 18q21.1.

Muhammad Arshad Rafique1, Muhammad Ansar, Syed Muhammad Jamal, Sajid Malik, Muhammad Sohail, Mohammad Faiyaz-Ul-Haque, Sayedul Haque, Suzanne M Leal, Wasim Ahmad.   

Abstract

Hereditary hypotrichosis is a rare autosomal recessive condition characterized clinically by alopecia. Three consanguineous kindreds with multiple affected individuals were ascertained from different regions of Pakistan. A novel hypotrichosis locus was mapped to a 5.5 cM region on chromosome 18q21.1. A maximum two-point LOD score of 5.25 was obtained at marker D18S36 (theta=0.0). Three genes each for desmoglein and desmocollin proteins are located in this region. The expression in epidermal desmosomes and their connection to the keratin intermediate filaments make these genes excellent candidates for recessive hypotrichosis.

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Year:  2003        PMID： 12891384      PMCID： PMC6157268          DOI： 10.1038/sj.ejhg.5201005

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


  33 in total

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Journal:  Am J Hum Genet       Date:  2000-03       Impact factor: 11.025

2.  Exposing the human nude phenotype.

Authors:  J Frank; C Pignata; A A Panteleyev; D M Prowse; H Baden; L Weiner; L Gaetaniello; W Ahmad; N Pozzi; P B Cserhalmi-Friedman; V M Aita; H Uyttendaele; D Gordon; J Ott; J L Brissette; A M Christiano
Journal:  Nature       Date:  1999-04-08       Impact factor: 49.962

3.  Faster linkage analysis computations for pedigrees with loops or unused alleles.

Authors:  A A Schäffer
Journal:  Hum Hered       Date:  1996 Jul-Aug       Impact factor: 0.444

4.  Hereditary hypotrichosis simplex of the scalp. Evidence for autosomal dominant inheritance.

Authors:  J Toribio; P A Quiñones
Journal:  Br J Dermatol       Date:  1974-12       Impact factor: 9.302

5.  Genomic organization of the human hairless gene (HR) and identification of a mutation underlying congenital atrichia in an Arab Palestinian family.

Authors:  W Ahmad; A Zlotogorski; A A Panteleyev; H Lam; M Ahmad; M Faiyaz ul Haque; H M Abdallah; L Dragan; A M Christiano
Journal:  Genomics       Date:  1999-03-01       Impact factor: 5.736

6.  Cloning, genomic organization, alternative transcripts and mutational analysis of the gene responsible for autosomal recessive universal congenital alopecia.

Authors:  S Cichon; M Anker; I R Vogt; H Rohleder; M Pützstück; A Hillmer; S A Farooq; K S Al-Dhafri; M Ahmad; S Haque; M Rietschel; P Propping; R Kruse; M M Nöthen
Journal:  Hum Mol Genet       Date:  1998-10       Impact factor: 6.150

7.  Characterization of pemphigus foliaceus antigen from human epidermis.

Authors:  N J Calvanico; C R Martins; L A Diaz
Journal:  J Invest Dermatol       Date:  1991-06       Impact factor: 8.551

8.  Alopecia universalis associated with a mutation in the human hairless gene.

Authors:  W Ahmad; M Faiyaz ul Haque; V Brancolini; H C Tsou; S ul Haque; H Lam; V M Aita; J Owen; M deBlaquiere; J Frank; P B Cserhalmi-Friedman; A Leask; J A McGrath; M Peacocke; M Ahmad; J Ott; A M Christiano
Journal:  Science       Date:  1998-01-30       Impact factor: 47.728

9.  Comprehensive human genetic maps: individual and sex-specific variation in recombination.

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10.  Linkage disequilibrium mapping of the gene for Margarita Island ectodermal dysplasia (ED4) to 11q23.

Authors:  K Suzuki; T Bustos; R A Spritz
Journal:  Am J Hum Genet       Date:  1998-10       Impact factor: 11.025
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  10 in total

1.  A recurrent intragenic deletion mutation in DSG4 gene in three Pakistani families with autosomal recessive hypotrichosis.

Authors:  Muhammad Arshad Rafiq; Muhammad Ansar; Saqib Mahmood; Sayedul Haque; Muhammad Faiyaz-ul-Haque; Suzanne M Leal; Wasim Ahmad
Journal:  J Invest Dermatol       Date:  2004-07       Impact factor: 8.551

2.  Localization of a novel locus for alopecia with mental retardation syndrome to chromosome 3q26.33-q27.3.

Authors:  Peter John; Ghazanfar Ali; Muhammad S Chishti; Syed Muhammad S Naqvi; Suzanne M Leal; Wasim Ahmad
Journal:  Hum Genet       Date:  2005-11-05       Impact factor: 4.132

3.  Genetic mapping of a novel hypotrichosis locus to chromosome 7p21.3-p22.3 in a Pakistani family and screening of the candidate genes.

Authors:  Sulman Basit; Ghazanfar Ali; Naveed Wasif; Muhammad Ansar; Wasim Ahmad
Journal:  Hum Genet       Date:  2010-06-11       Impact factor: 4.132

4.  A novel locus for alopecia with mental retardation syndrome (APMR2) maps to chromosome 3q26.2-q26.31.

Authors:  A Wali; P John; A Gul; K Lee; M S Chishti; G Ali; M J Hassan; S M Leal; W Ahmad
Journal:  Clin Genet       Date:  2006-09       Impact factor: 4.438

5.  A mutation in the lipase H (LIPH) gene underlie autosomal recessive hypotrichosis.

Authors:  Ghazanfar Ali; Muhammad Salman Chishti; Syed Irfan Raza; Peter John; Wasim Ahmad
Journal:  Hum Genet       Date:  2007-02-27       Impact factor: 4.132

6.  A spontaneous deletion within the desmoglein 3 extracellular domain of mice results in hypomorphic protein expression, immunodeficiency, and a wasting disease phenotype.

Authors:  Evgueni I Kountikov; Jonathan C Poe; Nancie J Maclver; Jeffrey C Rathmell; Thomas F Tedder
Journal:  Am J Pathol       Date:  2014-12-24       Impact factor: 4.307

7.  Mapping of a novel autosomal recessive hypotrichosis locus on chromosome 10q11.23–22.3.

Authors:  Gul Naz; Ghazanfar Ali; Syed Kamran-ul-Hassan Naqvi; Zahid Azeem; Wasim Ahmad
Journal:  Hum Genet       Date:  2010-04       Impact factor: 4.132

8.  Mapping of a gene for alopecia with mental retardation syndrome (APMR3) on chromosome 18q11.2-q12.2.

Authors:  A Wali; G Ali; P John; K Lee; M S Chishti; S M Leal; W Ahmad
Journal:  Ann Hum Genet       Date:  2007-04-19       Impact factor: 1.670

9.  Novel mutations in G protein-coupled receptor gene (P2RY5) in families with autosomal recessive hypotrichosis (LAH3).

Authors:  Zahid Azeem; Musharraf Jelani; Gul Naz; Muhammad Tariq; Naveed Wasif; Syed Kamran-Ul-Hassan Naqvi; Muhammad Ayub; Masoom Yasinzai; Muhammad Amin-Ud-Din; Abdul Wali; Ghazanfar Ali; Muhammad Salman Chishti; Wasim Ahmad
Journal:  Hum Genet       Date:  2008-05-07       Impact factor: 4.132

10.  A novel mutation in the Lipase H gene underlies autosomal recessive hypotrichosis and woolly hair.

Authors:  Muhammad Tariq; Aysha Azhar; Shahid Mahmood Baig; Niklas Dahl; Joakim Klar
Journal:  Sci Rep       Date:  2012-10-12       Impact factor: 4.379
  10 in total

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