Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome-Reference-Cited by-同舟云学术

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Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome

Published:2020-07 Issue:1 Volume:107 Page:34-45
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Wang Huijun,Humbatova Aytaj,Liu Yuanxiang,Qin Wen,Lee Mingyang,Cesarato Nicole,Kortüm Fanny,Kumar Sheetal,Romano Maria Teresa,Dai Shangzhi,Mo Ran,Sivalingam Sugirthan,Motameny Susanne,Wu Yuan,Wang Xiaopeng,Niu Xinwu,Geng Songmei,Bornholdt Dorothea,Kroisel Peter M.,Tadini Gianluca,Walter Scott D.,Hauck Fabian,Girisha Katta M.,Calza Anne-Marie,Bottani Armand,Altmüller Janine,Buness Andreas,Yang Shuxia,Sun Xiujuan,Ma Lin,Kutsche Kerstin,Grzeschik Karl-Heinz,Betz Regina C.,Lin Zhimiao

Funder

National Natural Science Foundation of China

Fok Ying Tung Education Foundation

Deutsche Forschungsgemeinschaft

German-Israeli Foundation for Scientific Research and Development

BONFOR

Islamic Development Bank

Peking University Medicine Fund of Fostering Young Scholar’s Scientific & Technological Innovation

Else Kröner-Fresenius-Stiftung

German Federal Ministry of Education and Research

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference50 articles.

1. Three cases of ‘ichthyosis follicularis’ associated with baldness;McLeod;Br. J. Dermatol.,1909

2. Recurrent splice-site mutation in MBTPS2 underlying IFAP syndrome with Olmsted syndrome-like features in a Chinese patient;Wang;Clin. Exp. Dermatol.,2014

3. IFAP syndrome is caused by deficiency in MBTPS2, an intramembrane zinc metalloprotease essential for cholesterol homeostasis and ER stress response;Oeffner;Am. J. Hum. Genet.,2009

4. Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome due to mutation of the gene MBTPS2 in a large Australian kindred;Ming;Pediatr. Dermatol.,2009

5. A Japanese case of ichthyosis follicularis with atrichia and photophobia syndrome with an MBTPS2 mutation;Nakayama;J. Hum. Genet.,2011

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2. A gain-of-function variant in SREBF1 causes generalized skin hyperpigmentation with congenital cataracts;British Journal of Dermatology;2024-07-15

3. Ichthyosis Follicularis, Atrichia, and Photophobia (IFAP) Syndrome, Type 2: Clinical Case;Current Pediatrics;2024-07-12

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