A novel missense variant in the PNPLA1 gene underlies congenital ichthyosis in three consanguineous families-Reference-Cited by-同舟云学术

A novel missense variant in the PNPLA1 gene underlies congenital ichthyosis in three consanguineous families

Published:2015-12-21 Issue:12 Volume:30 Page:e210-e213
ISSN:0926-9959
Container-title:Journal of the European Academy of Dermatology and Venereology
language:en
Short-container-title:J Eur Acad Dermatol Venereol

Author:

Ahmad F.¹,Ansar M.¹,Mehmood S.¹,Izoduwa A.²,Lee K.²,Nasir A.¹,Abrar M.¹,Mehmood S.¹,Ullah A.¹,Aziz A.¹,Smith J.D.²,Shendure J.²,Bamshad M.J.²,Nicekrson D.A.²,Santos-Cortez R.L.P.²,Leal S.M.²,Ahmad W.¹³,

Affiliation:

1. Department of Biochemistry; Faculty of Biological Sciences; Quaid-i-Azam University (QAU); Islamabad Pakistan

2. Department of Molecular and Human Genetics; Center for Statistical Genetics; Baylor College of Medicine; Houston Texas USA

3. Pakistan Academy of Sciences (PAS); Islamabad Pakistan

Funder

Higher Education Commission, Pakistan

National Institutes of Health

Publisher

Wiley

Subject

Infectious Diseases,Dermatology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/jdv.13540/fullpdf

Reference9 articles.

1. Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009;Oji;J Am Acad Dermatol,2010

2. Autosomal recessive congenital ichthyosis;Fischer;J Invest Dermatol,2009

3. PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans;Grall;Nat Genet,2012

4. Mutations in CERS3 cause autosomal recessive congenital ichthyosis in humans;Radner;PLoS Genet,2013

5. A homozygous missense variant in type I keratin KRT25 causes autosomal recessive woolly hair;Ansar;J Med Genet,2015

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1. Identification and In Silico Analysis of a Homozygous Nonsense Variant in TGM1 Gene Segregating with Congenital Ichthyosis in a Consanguineous Family;Medicina;2023-01-02

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3. Alterations of Ultra Long-Chain Fatty Acids in Hereditary Skin Diseases—Review Article;Frontiers in Medicine;2021-08-23

4. Variants in the PNPLA1 Gene in Families with Autosomal Recessive Congenital Ichthyosis Reveal Clinical Significance;Molecular Syndromology;2021

5. The role of PNPLA1 in ω-O-acylceramide synthesis and skin barrier function;Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids;2019-06