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

    Huijun Wang, Aytaj Humbatova, Yuanxiang Liu … Zhimiao Lin
    Studysummary This study identified mutations in the SREBF1 gene that impair SREBP1 function, potentially contributing to IFAP syndrome by affecting skin, hair, and eye development.
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    Research cited in this study 11

    1. Cholesterol Homeostasis: Links to Hair Follicle Biology and Hair Disorders Experimental Dermatology · 2019
    2. Bi-Allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex American journal of human genetics · 2018
    3. Skin-Specific Regulation of SREBP Processing and Lipid Biosynthesis by Glycerol Kinase 5 Proceedings of the National Academy of Sciences of the United States of America · 2017
    4. Hair Growth Cycle Is Arrested in SCD1 Deficiency by Impaired Wnt3a-Palmitoleoylation and Retrieved by the Artificial Lipid Barrier Journal of Investigative Dermatology · 2017
    5. Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome American journal of human genetics · 2016
    6. A Japanese Case of Ichthyosis Follicularis with Atrichia and Photophobia Syndrome with an MBTPS2 Mutation Journal of human genetics · 2010
    7. Hair Growth Defects in Insig-Deficient Mice Caused by Cholesterol Precursor Accumulation and Reversed by Simvastatin ˜The œjournal of investigative dermatology/Journal of investigative dermatology · 2010
    8. The Keratins of the Human Beard Hair Medulla: The Riddle in the Middle ˜The œjournal of investigative dermatology/Journal of investigative dermatology · 2009
    9. Human Hair Growth Deficiency Is Linked to a Genetic Defect in the Phospholipase Gene LIPH Science · 2006
    10. Asebia-2J (Scd1ab2J): A New Allele and a Model for Scarring Alopecia ˜The œAmerican journal of pathology · 2000
    11. Ichthyosis Follicularis with Alopecia and Photophobia in a Mother and Daughter British journal of dermatology/British journal of dermatology, Supplement · 2000