Literature DB >> 15191570

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

Muhammad Arshad Rafiq, Muhammad Ansar, Saqib Mahmood, Sayedul Haque, Muhammad Faiyaz-ul-Haque, Suzanne M Leal, Wasim Ahmad.   

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Year:  2004        PMID： 15191570      PMCID： PMC6157275          DOI： 10.1111/j.0022-202X.2004.22715.x

Source DB:  PubMed          Journal:  J Invest Dermatol        ISSN： 0022-202X            Impact factor:   8.551


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  14 in total

1.  Desmoglein isotype expression in the hair follicle and its cysts correlates with type of keratinization and degree of differentiation.

Authors:  Hong Wu; John R Stanley; George Cotsarelis
Journal:  J Invest Dermatol       Date:  2003-06       Impact factor: 8.551

Review 2.  The structural and functional analysis of cadherin calcium-dependent cell adhesion molecules.

Authors:  G B Grunwald
Journal:  Curr Opin Cell Biol       Date:  1993-10       Impact factor: 8.382

3.  Pemphigus vulgaris antigen is a desmosomal desmoglein.

Authors:  S Kárpáti; M Amagai; R Prussick; J R Stanley
Journal:  Dermatology       Date:  1994       Impact factor: 5.366

4.  Desmoglein 4 in hair follicle differentiation and epidermal adhesion: evidence from inherited hypotrichosis and acquired pemphigus vulgaris.

Authors:  Ana Kljuic; Hisham Bazzi; John P Sundberg; Amalia Martinez-Mir; Ryan O'Shaughnessy; My G Mahoney; Moise Levy; Xavier Montagutelli; Wasim Ahmad; Vincent M Aita; Derek Gordon; Jouni Uitto; David Whiting; Jurg Ott; Stuart Fischer; T Conrad Gilliam; Colin A B Jahoda; Rebecca J Morris; Andrei A Panteleyev; Vu Thuong Nguyen; Angela M Christiano
Journal:  Cell       Date:  2003-04-18       Impact factor: 41.582

5.  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

6.  Cloning of the gene for human pemphigus vulgaris antigen (desmoglein 3), a desmosomal cadherin. Characterization of the promoter region and identification of a keratinocyte-specific cis-element.

Authors:  S A Silos; K Tamai; K Li; S Kivirikko; D Kouba; A M Christiano; J Uitto
Journal:  J Biol Chem       Date:  1996-07-19       Impact factor: 5.157

7.  Genomic sequence analysis of the mouse desmoglein cluster reveals evidence for six distinct genes: characterization of mouse DSG4, DSG5, and DSG6.

Authors:  Neil Vincent Whittock
Journal:  J Invest Dermatol       Date:  2003-06       Impact factor: 8.551

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

Authors:  Muhammad Arshad Rafique; Muhammad Ansar; Syed Muhammad Jamal; Sajid Malik; Muhammad Sohail; Mohammad Faiyaz-Ul-Haque; Sayedul Haque; Suzanne M Leal; Wasim Ahmad
Journal:  Eur J Hum Genet       Date:  2003-08       Impact factor: 4.246

9.  Human desmocollin 1 (Dsc1) is an autoantigen for the subcorneal pustular dermatosis type of IgA pemphigus.

Authors:  T Hashimoto; C Kiyokawa; O Mori; M Miyasato; M A Chidgey; D R Garrod; Y Kobayashi; K Komori; K Ishii; M Amagai; T Nishikawa
Journal:  J Invest Dermatol       Date:  1997-08       Impact factor: 8.551

10.  A novel mouse desmosomal cadherin family member, desmoglein 1 gamma.

Authors:  A Kljuic; A M Christiano
Journal:  Exp Dermatol       Date:  2003-02       Impact factor: 3.960
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  11 in total

Review 1.  Desmosomes: just cell adhesion or is there more?

Authors:  Ansgar Schmidt; Peter J Koch
Journal:  Cell Adh Migr       Date:  2007-01-26       Impact factor: 3.405

2.  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

3.  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

4.  An autosomal recessive mutation of DSG4 causes monilethrix through the ER stress response.

Authors:  Madoka Kato; Akira Shimizu; Yoko Yokoyama; Kyoichi Kaira; Yutaka Shimomura; Akemi Ishida-Yamamoto; Kiyoko Kamei; Fuminori Tokunaga; Osamu Ishikawa
Journal:  J Invest Dermatol       Date:  2015-01-23       Impact factor: 8.551

5.  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

6.  A homozygous nonsense mutation in the human desmocollin-3 (DSC3) gene underlies hereditary hypotrichosis and recurrent skin vesicles.

Authors:  Muhammad Ayub; Sulman Basit; Musharraf Jelani; Fazal Ur Rehman; Muhammad Iqbal; Masoom Yasinzai; Wasim Ahmad
Journal:  Am J Hum Genet       Date:  2009-09-17       Impact factor: 11.025

7.  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

8.  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

9.  Defining the pathogenic involvement of desmoglein 4 in pemphigus and staphylococcal scalded skin syndrome.

Authors:  Takeshi Nagasaka; Koji Nishifuji; Takayuki Ota; Neil V Whittock; Masayuki Amagai
Journal:  J Clin Invest       Date:  2004-11       Impact factor: 14.808

10.  Independent DSG4 frameshift variants in cats with hair shaft dystrophy.

Authors:  Sarah Kiener; Ana Rostaher; Silvia Rüfenacht; Vidhya Jagannathan; John P Sundberg; Monika Welle; Tosso Leeb
Journal:  Mol Genet Genomics       Date:  2021-12-08       Impact factor: 3.291
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