Literature DB >> 17392831

Localized autosomal recessive hypotrichosis due to a frameshift mutation in the desmoglein 4 gene exhibits extensive phenotypic variability within a Pakistani family.

Muhammad Wajid, Hisham Bazzi, Jonathan Rockey, Jillian Lubetkin, Abraham Zlotogorski, Angela M Christiano.   

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Year:  2007        PMID： 17392831     DOI： 10.1038/sj.jid.5700791

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


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  8 in total

Review 1.  Cadherins as targets for genetic diseases.

Authors:  Aziz El-Amraoui; Christine Petit
Journal:  Cold Spring Harb Perspect Biol       Date:  2010-01       Impact factor: 10.005

2.  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

3.  Genome-wide linkage analysis of an autosomal recessive hypotrichosis identifies a novel P2RY5 mutation.

Authors:  Lynn Petukhova; Edilson C Sousa; Amalia Martinez-Mir; Anna Vitebsky; Lina G Dos Santos; Lawrence Shapiro; Chad Haynes; Derek Gordon; Yutaka Shimomura; Angela M Christiano
Journal:  Genomics       Date:  2008-09-13       Impact factor: 5.736

4.  Desmoglein 4 is regulated by transcription factors implicated in hair shaft differentiation.

Authors:  Hisham Bazzi; Shadmehr Demehri; Christopher S Potter; Alison G Barber; Alexander Awgulewitsch; Raphael Kopan; Angela M Christiano
Journal:  Differentiation       Date:  2009-08-15       Impact factor: 3.880

5.  The effect of inbreeding on the distribution of compound heterozygotes: a lesson from Lipase H mutations in autosomal recessive woolly hair/hypotrichosis.

Authors:  Lynn Petukhova; Yutaka Shimomura; Muhammad Wajid; Prakash Gorroochurn; Susan E Hodge; Angela M Christiano
Journal:  Hum Hered       Date:  2009-04-09       Impact factor: 0.444

6.  Desmoglein-4 Deficiency Exacerbates Psoriasiform Dermatitis in Rats While Psoriasis Patients Displayed a Decreased Gene Expression of DSG4.

Authors:  Tamara Moreno-Sosa; María Belén Sánchez; Elisa Olivia Pietrobon; Juan Manuel Fernandez-Muñoz; Felipe Carlos Martín Zoppino; Flavia Judith Neira; María José Germanó; Diego Esteban Cargnelutti; Alicia Carolina Innocenti; Graciela Alma Jahn; Susana Ruth Valdez; Juan Pablo Mackern-Oberti
Journal:  Front Immunol       Date:  2021-04-29       Impact factor: 7.561

7.  Autosomal recessive monilethrix: Novel variants of the DSG4 gene in three Chinese families.

Authors:  Cheng Zhou; Pei Wang; Dingquan Yang; Wenjun Liao; Qing Guo; Jiacheng Li; Guangdong Wen; Shuying Zheng; Xue Zhang; Rongrong Wang; Jianzhong Zhang
Journal:  Mol Genet Genomic Med       Date:  2022-02-11       Impact factor: 2.183

8.  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
  8 in total

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