title: A novel mutation, c.699C>G (p.C233W), in the LIPH gene leads to a loss of the hydrolytic activity and the LPA6 activation ability of PA-PLA1α in autosomal recessive wooly hair/hypotrichosis.
authors.affiliation: Department of Dermatology, University of Occupational and Environmental Health, Kitakyushu, Japan.
authors.forename: Mayuko
authors.initials: M
authors.lastname: Yoshizawa
authors.forename: Motonobu
authors.initials: M
authors.lastname: Nakamura
authors.forename: Muhammad
authors.initials: M
authors.lastname: Farooq
authors.forename: Asuka
authors.initials: A
authors.lastname: Inoue
authors.forename: Junken
authors.initials: J
authors.lastname: Aoki
authors.forename: Yutaka
authors.initials: Y
authors.lastname: Shimomura
mesh_terms: D000328:Adult; D000505:Alopecia / Q000151:congenital* / Q000235:genetics / Q000378:metabolism; D000595:Amino Acid Sequence; D019943:Amino Acid Substitution; D001483:Base Sequence; D004247:DNA / Q000235:genetics; D005260:Female; D005808:Genes, Recessive; D006197:Hair / Q000002:abnormalities* / Q000378:metabolism; D006201:Hair Diseases / Q000235:genetics* / Q000378:metabolism*; D006801:Humans; D006868:Hydrolysis; D008049:Lipase / Q000235:genetics* / Q000378:metabolism*; D008958:Models, Molecular; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D054466:Phospholipases A1 / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism*; D049368:Receptors, Lysophosphatidic Acid / Q000378:metabolism; D017386:Sequence Homology, Amino Acid; D013577:Syndrome
chemical_list: C504173:LIPC protein, human; C545560:LPAR6 protein, human; D049368:Receptors, Lysophosphatidic Acid; D004247:DNA; D008049:Lipase; C512665:PLA1A protein, human; D054466:Phospholipases A1