Image

    Mutations in the Desmoglein 4 Gene Are Associated with Monilethrix-Like Congenital Hypotrichosis

    January 2006 in “ ˜The œjournal of investigative dermatology/Journal of investigative dermatology ”
    Yutaka Shimomura, Fumiko Sakamoto, Naoyuki Kariya … Masaaki Ito
    Studysummary This study identified novel compound heterozygous mutations in the DSG4 gene in a Japanese patient with congenital hypotrichosis, suggesting overlap between localized autosomal recessive hypotrichosis and monilethrix.
    Automatically generated from the study's abstract, not written by a person, and not a review of the full paper. Not medical advice or a treatment recommendation. Read the original study, and consult a qualified healthcare professional before changing treatment. Full disclaimer
    Read the full study on jidonline.org →
    Discuss this study in the Community →

    Research cited in this study 18

    1. A Missense Mutation in the Type II Hair Keratin hHb3 Is Associated with Monilethrix Journal of Medical Genetics · 2005
    2. Intragenic Deletion in the Desmoglein 4 Gene Underlies the Skin Phenotype in the Iffa Credo Hairless Rat Differentiation · 2004
    3. A Recurrent Intragenic Deletion in the Desmoglein 4 Gene Underlies Localized Autosomal Recessive Hypotrichosis Journal of Investigative Dermatology · 2004
    4. The Lanceolate Hair Rat Phenotype Results from a Missense Mutation in a Calcium Coordinating Site of the Desmoglein 4 Gene Genomics · 2004
    5. De Novo Mutations in Monilethrix Experimental Dermatology · 2003
    6. The Catalog of Human Hair Keratins Journal of Biological Chemistry · 2001
    7. Lanceolate Hair-J (LahJ): A Mouse Model for Human Hair Disorders Experimental dermatology · 2000
    8. Characterization of a 300 Kbp Region of Human DNA Containing the Type II Hair Keratin Gene Domain Journal of Investigative Dermatology · 2000
    9. Two Different Mutations in the Same Codon of a Type II Hair Keratin (hHb6) in Patients with Monilethrix Journal of Investigative Dermatology · 1999
    10. Identification of Novel Mutations in Basic Hair Keratins hHb1 and hHb6 in Monilethrix: Implications for Protein Structure and Clinical Phenotype Journal of Investigative Dermatology · 1999
    11. Monilethrix: A Novel Mutation (Glu402Lys) in the Helix Termination Motif and the First Causative Mutation (Asn114Asp) in the Helix Initiation Motif of the Type II Hair Keratin hHb6 Journal of Investigative Dermatology · 1999
    12. The Catalog of Human Hair Keratins Journal of biological chemistry/˜The œJournal of biological chemistry · 1999
    13. A Mutational Hotspot in the 2B Domain of Human Hair Basic Keratin 6 (hHb6) in Monilethrix Patients Journal of Investigative Dermatology · 1998
    14. Characterization of a 190-Kilobase Pair Domain of Human Type I Hair Keratin Genes Journal of biological chemistry/˜The œJournal of biological chemistry · 1998
    15. A Variable Monilethrix Phenotype Associated With a Novel Mutation, Glu402Lys, in the Helix Termination Motif of the Type II Hair Keratin hHb1 Journal of Investigative Dermatology · 1998
    16. Mutations in the Hair Cortex Keratin HHB6 Cause the Inherited Hair Disease Monilethrix Nature Genetics · 1997
    17. Lanceolate Hair (Lah): A Recessive Mouse Mutation with Alopecia and Abnormal Hair ˜The œjournal of investigative dermatology/Journal of investigative dermatology · 1996
    18. Monilethrix: An Ultrastructural Study Journal of Cutaneous Pathology · 1984

    Related research 1

    1. Histopathology of Hypotrichosis with Juvenile Macular Dystrophy The American Journal of Dermatopathology · 2004