Hereditary Mucoepithelial Dysplasia Results from Heterozygous Variants at p.Arg557 Mutational Hotspot in SREBF1, Encoding a Transcription Factor Involved in Cholesterol Homeostasis-Reference-Cited by-同舟云学术

Hereditary Mucoepithelial Dysplasia Results from Heterozygous Variants at p.Arg557 Mutational Hotspot in SREBF1, Encoding a Transcription Factor Involved in Cholesterol Homeostasis

Published:2020-06 Issue:6 Volume:140 Page:1289-1292.e2
ISSN:0022-202X
Container-title:Journal of Investigative Dermatology
language:en
Short-container-title:Journal of Investigative Dermatology

Author:

Morice-Picard Fanny^ORCID,Michaud Vincent^ORCID,Lasseaux Eulalie^ORCID,Rezvani Hamid Reza^ORCID,Plaisant Claudio^ORCID,Bessis Didier^ORCID,Leauté-Labrèze Christine^ORCID,Arveiler Benoit^ORCID,Taieb Alain^ORCID,Trimouille Aurélien^ORCID,Boralevi Franck^ORCID

Publisher

Elsevier BV

Subject

Cell Biology,Dermatology,Molecular Biology,Biochemistry

Reference13 articles.

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4. Sterols regulate cycling of SREBP cleavage-activating protein (SCAP) between endoplasmic reticulum and Golgi;Nohturfft;Proc Natl Acad Sci USA,1999

5. 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

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