Whole‐exome sequencing identified a novel frameshift mutation in SDR9C7 underlying autosomal recessive congenital ichthyosis in a Pakistani family-Reference-Cited by-同舟云学术

Whole‐exome sequencing identified a novel frameshift mutation in SDR9C7 underlying autosomal recessive congenital ichthyosis in a Pakistani family

Published:2017-10-06 Issue:5 Volume:177 Page:
ISSN:0007-0963
Container-title:British Journal of Dermatology
language:en
Short-container-title:Br J Dermatol

Author:

Karim N.¹,Murtaza G.¹,Naeem M.¹^ORCID

Affiliation:

1. Medical Genetics Research Laboratory Department of Biotechnology Quaid‐I‐Azam University Islamabad Pakistan

Funder

Higher Education Commission, Pakistan

Publisher

Wiley

Subject

Dermatology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/bjd.15535

Reference5 articles.

1. Spectrum of Autosomal Recessive Congenital Ichthyosis in Scandinavia: Clinical Characteristics and Novel and Recurrent Mutations in 132 Patients

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

3. Identification of a Novel Locus Associated with Congenital Recessive Ichthyosis on 12p11.2–q13

4. In search for function of two human orphan SDR enzymes: Hydroxysteroid dehydrogenase like 2 (HSDL2) and short-chain dehydrogenase/reductase-orphan (SDR-O)

5. Systemic retinoids in the management of ichthyoses and related skin types

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1. SDR9C7 missense variant in a Chihuahua with non‐epidermolytic ichthyosis;Animal Genetics;2023-03-26

2. Knockdown of SDR9C7 Impairs Epidermal Barrier Function;Journal of Investigative Dermatology;2021-07

3. Hereditäre Ichthyose und Pilzinfektion: aktuelle Daten zu Pathogenese und Behandlungsstrategien;JDDG: Journal der Deutschen Dermatologischen Gesellschaft;2021-03

4. Inherited ichthyosis and fungal infection: an update on pathogenesis and treatment strategies;JDDG: Journal der Deutschen Dermatologischen Gesellschaft;2021-01-14

5. SDR9C7 plays an essential role in skin barrier function by dehydrogenating acylceramide for covalent attachment to proteins;Journal of Dermatological Science;2020-05