Identification of Factors Contributing to Phenotypic Divergence via Quantitative Image Analyses of Autosomal Recessive Woolly Hair/Hypotrichosis with Homozygous c.736T>A LIPH Mutation

    Misaki Kinoshita‐Ise, Akiharu Kubo, Takashi Sasaki … Manabu Ohyama
    Studysummary This study observed phenotypic diversity in hair loss among Japanese individuals homozygous for the LIPH c.736T>A mutation and suggests that differences in hair thickness may contribute to varying severities.
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    Research cited in this study 12

    1. Topical Minoxidil Improves Congenital Hypotrichosis Caused by LIPH Mutations British Journal of Dermatology · 2015
    2. Contribution of Hair Density and Hair Diameter to the Appearance and Progression of Androgenetic Alopecia in Japanese Men British Journal of Dermatology · 2014
    3. Highly Prevalent LIPH Founder Mutations Causing Autosomal Recessive Woolly Hair/Hypotrichosis in Japan and the Genotype/Phenotype Correlations PloS one · 2014
    4. An Atlas of Hair Pathology with Clinical Correlations CRC Press eBooks · 2012
    5. LPA-Producing Enzyme PA-PLA1α Regulates Hair Follicle Development by Modulating EGFR Signaling The EMBO Journal · 2011
    6. FGFR2 Is Associated With Hair Thickness In Asian Populations Journal of human genetics · 2009
    7. Alopecia in Congenital Hidrotic Ectodermal Dysplasia Responding to Treatment with a Combination of Topical Minoxidil and Tretinoin International Journal of Dermatology · 2009
    8. Adenosine Stimulates Fibroblast Growth Factor-7 Gene Expression Via Adenosine A2b Receptor Signaling in Dermal Papilla Cells ˜The œjournal of investigative dermatology/Journal of investigative dermatology · 2007
    9. Human Hair Growth Deficiency Is Linked to a Genetic Defect in the Phospholipase Gene LIPH Science · 2006
    10. Minoxidil-Induced Hair Growth Is Mediated by Adenosine in Cultured Dermal Papilla Cells: Possible Involvement of Sulfonylurea Receptor 2B as a Target of Minoxidil Journal of Investigative Dermatology · 2001
    11. Hair Density in African Americans Archives of Dermatology · 1999
    12. Diagnostic and Predictive Value of Horizontal Sections of Scalp Biopsy Specimens in Male Pattern Androgenetic Alopecia Journal of The American Academy of Dermatology · 1993

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    3. Treating Resistant Cases of Alopecia Universalis Journal of cosmetology & trichology · 2018
    4. Congenital Hypotrichosis Due to Short Anagen Phase British Journal of Dermatology · 2000