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    Molecular Basis of Hereditary Hair Diseases

    July 2023 in “ The Keio Journal of Medicine ”
    Yutaka Shimomura
    Studysummary In this review, researchers highlighted the prevalence of hereditary hair diseases in the Japanese population, emphasizing the significant impact of LIPH gene variants on autosomal recessive woolly hair and the importance of continued research to better diagnose and manage these disorders.
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    Research cited in this study 28

    1. Biallelic Variants in Lanosterol Synthase (LSS) Cause Palmoplantar Keratoderma-Congenital Alopecia Syndrome Type 2 ˜The œjournal of investigative dermatology/Journal of investigative dermatology · 2022
    2. Identification of Compound Heterozygous Mutations in AP1B1 Leading to the Newly Described Recessive Keratitis–Ichthyosis–Deafness (KIDAR) Syndrome British Journal of Dermatology · 2021
    3. Association of Topical Minoxidil With Autosomal Recessive Woolly Hair/Hypotrichosis Caused by LIPH Pathogenic Variants JAMA Dermatology · 2020
    4. Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome American journal of human genetics · 2020
    5. Metabolic and Pathologic Profiles of Human LSS Deficiency Recapitulated in Mice PLOS genetics · 2020
    6. Bi-Allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex American journal of human genetics · 2018
    7. A Missense Mutation Within the Helix Termination Motif of KRT25 Causes Autosomal Dominant Woolly Hair/Hypotrichosis Journal of Investigative Dermatology · 2017
    8. A Homozygous Missense Variant in Type I Keratin KRT25 Causes Autosomal Recessive Woolly Hair Journal of Medical Genetics · 2015
    9. Highly Prevalent LIPH Founder Mutations Causing Autosomal Recessive Woolly Hair/Hypotrichosis in Japan and the Genotype/Phenotype Correlations PloS one · 2014
    10. Trichorhinophalangeal Syndrome with Low Expression of TRPS1 on Epidermal and Hair Follicle Epithelial Cells The Journal of Dermatology · 2013
    11. Mutations in SNRPE, Which Encodes a Core Protein of the Spliceosome, Cause Autosomal-Dominant Hypotrichosis Simplex The American Journal of Human Genetics · 2012
    12. A Missense Mutation Within the Helix Initiation Motif of the Keratin K71 Gene Underlies Autosomal Dominant Woolly Hair/Hypotrichosis Journal of Investigative Dermatology · 2012
    13. Congenital Hair Loss Disorders: Rare, But Not Too Rare The Journal of Dermatology · 2011
    14. LPA-Producing Enzyme PA-PLA1α Regulates Hair Follicle Development by Modulating EGFR Signaling The EMBO Journal · 2011
    15. Biology and Genetics of Hair Annual Review of Genomics and Human Genetics · 2010
    16. APCDD1 Is a Novel Wnt Inhibitor Mutated in Hereditary Hypotrichosis Simplex Nature · 2010
    17. Autosomal-Dominant Woolly Hair Resulting from Disruption of Keratin 74, a Potential Determinant of Human Hair Texture The American Journal of Human Genetics · 2010
    18. Identification and Characterization of a Novel Lysophosphatidic Acid Receptor, P2Y5/LPA6 Journal of Biological Chemistry · 2009
    19. Loss-Of-Function Mutations of an Inhibitory Upstream ORF in the Human Hairless Transcript Cause Marie Unna Hereditary Hypotrichosis Nature Genetics · 2009
    20. Identification of Dkk4 as a Target of Eda-A1/Edar Pathway Reveals an Unexpected Role of Ectodysplasin as Inhibitor of Wnt Signaling in Ectodermal Placodes Developmental biology · 2008
    21. Disruption of P2RY5, an Orphan G Protein–Coupled Receptor, Underlies Autosomal Recessive Woolly Hair Nature genetics · 2008
    22. Mutations in the Desmoglein 4 Gene Are Associated with Monilethrix-Like Congenital Hypotrichosis ˜The œjournal of investigative dermatology/Journal of investigative dermatology · 2006
    23. A Missense Mutation in the Type II Hair Keratin hHb3 Is Associated with Monilethrix Journal of Medical Genetics · 2005
    24. The Catalog of Human Hair Keratins Journal of Biological Chemistry · 2001
    25. Morphogenesis and Renewal of Hair Follicles from Adult Multipotent Stem Cells Cell · 2001
    26. Marie Unna Hereditary Hypotrichosis Gene Maps to Human Chromosome 8p21 Near Hairless Journal of Investigative Dermatology · 2000
    27. Mutations in the Hair Cortex Keratin HHB6 Cause the Inherited Hair Disease Monilethrix Nature Genetics · 1997
    28. Monilethrix: An Ultrastructural Study Journal of Cutaneous Pathology · 1984

    Related research 2

    1. Molecular Basis of Hereditary Hair Diseases The Keio Journal of Medicine · 2023
    2. Congenital Hair Loss Disorders: Rare, But Not Too Rare The Journal of Dermatology · 2011