Sixteen novel mutations in PNPLA1 in patients with autosomal recessive congenital ichthyosis reveal the importance of an extended patatin domain in PNPLA1 that is essential for proper human skin barrier function-Reference-Cited by-同舟云学术

Sixteen novel mutations in PNPLA1 in patients with autosomal recessive congenital ichthyosis reveal the importance of an extended patatin domain in PNPLA1 that is essential for proper human skin barrier function

Published:2017-04-28 Issue:2 Volume:177 Page:445-455
ISSN:0007-0963
Container-title:British Journal of Dermatology
language:en
Short-container-title:Br J Dermatol

Author:

Zimmer A.D.¹,Kim G.J.¹,Hotz A.¹,Bourrat E.²,Hausser I.³,Has C.⁴,Oji V.⁵,Stieler K.⁶,Vahlquist A.⁷,Kunde V.⁸,Weber B.⁹,Radner F.P.W.¹⁰,Leclerc-Mercier S.¹¹,Schlipf N.¹,Demmer P.¹,Küsel J.¹,Fischer J.¹

Affiliation:

1. Institute of Human Genetics; Medical Center - University of Freiburg; Faculty of Medicine; University of Freiburg; Freiburg Germany

2. Department of Dermatology; Reference Center for Rare Skin Diseases MAGEC; Saint Louis Hospital AP-HP; Paris France

3. Institute of Pathology IPH; University Clinic Heidelberg; Heidelberg Germany

4. Department of Dermatology; Medical Center - University of Freiburg; Faculty of Medicine; University of Freiburg; Freiburg Germany

5. Department of Dermatology; University Hospital Münster; Münster Germany

6. Department of Dermatology; Charité Universitätsmedizin Berlin; Child Dermatology and Hair Competence Centre; Berlin Germany

7. Department of Medical Sciences; Section of Dermatology; University Hospital; Uppsala Sweden

8. Department of Neonatology; Christian Children's Hospital; Osnabrück Switzerland

9. Department of Dermatology; University Hospital Zürich; Zürich Switzerland

10. Institute of Molecular Biosciences; University of Graz; Graz Austria

11. Department of Dermatology and Pathology; Reference Center for Rare Skin Diseases MAGEC; Hôpital Necker Enfants Malades; Paris France

Funder

Deutsche Forschungsgemeinschaft

Publisher

Wiley

Subject

Dermatology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/bjd.15308/fullpdf

Reference21 articles.

1. Nonsyndromic types of ichthyoses - an update;Traupe;J Dtsch Dermatol Ges,2014

2. Mutations in SDR9C7 gene encoding an enzyme for vitamin A metabolism underlie autosomal recessive congenital ichthyosis;Shigehara;Hum Mol Genet,2016

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

4. Whole exome analysis reveals a novel missense PNPLA1 variant that causes autosomal recessive congenital ichthyosis in a Pakistani family;Lee;J Dermatol Sci,2016

5. A novel missense variant in the PNPLA1 gene underlies congenital ichthyosis in three consanguineous families;Ahmad;J Eur Acad Dermatol Venereol,2016

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1. Expanding the molecular and clinical spectrum of autosomal recessive congenital ichthyosis caused by pathogenic variants in NIPAL4 and PNPLA1 and evaluation of novel therapeutic interventions;Journal of the European Academy of Dermatology and Venereology;2023-07-24

2. Acral lamellar ichthyosis with amino acid substitution in the C‐terminus of keratin 2;Journal of the European Academy of Dermatology and Venereology;2022-11-17

3. ABHD5—A Regulator of Lipid Metabolism Essential for Diverse Cellular Functions;Metabolites;2022-10-24

4. Impaired production of skin barrier lipid acylceramides and abnormal localization of PNPLA1 due to ichthyosis-causing mutations in PNPLA1;Journal of Dermatological Science;2022-08

5. PNPLA1-Mediated Acylceramide Biosynthesis and Autosomal Recessive Congenital Ichthyosis;Metabolites;2022-07-26