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    Glossary Missense Mutation

    single nucleotide change alters one amino acid in a protein

    A missense mutation is a type of genetic alteration where a single nucleotide change results in the substitution of one amino acid for another in the protein produced by a gene. This can affect the protein's function, potentially leading to diseases or conditions, such as certain forms of alopecia, where hair loss occurs due to disrupted protein function in hair follicles.

    Research 10 of 868

    1. A Missense Mutation in the Zinc-Finger Domain of the Human Hairless Gene Underlies Congenital Atrichia in a Family of Irish Travellers The American Journal of Human Genetics · 1998 · 83 citations
    2. A missense mutation in the type II hair keratin hHb3 is associated with monilethrix Journal of Medical Genetics · 2005 · 79 citations
    3. A Missense Mutation within the Helix Initiation Motif of the Keratin K71 Gene Underlies Autosomal Dominant Woolly Hair/Hypotrichosis Journal of Investigative Dermatology · 2012 · 78 citations
    4. The lanceolate hair rat phenotype results from a missense mutation in a calcium coordinating site of the desmoglein 4 gene Genomics · 2004 · 50 citations
    5. A Novel Missense Mutation Affecting the Human Hairless Thyroid Receptor Interacting Domain 2 Causes Congenital Atrichia Journal of Investigative Dermatology · 2002 · 26 citations
    6. Homozygous Dominant Missense Mutation in Keratin 17 Leads to Alopecia in Addition to Severe Pachyonychia Congenita Journal of Investigative Dermatology · 2012 · 22 citations
    7. Atrichia with papular lesions resulting from a novel homozygous missense mutation in the hairless gene Clinical and Experimental Dermatology · 2003 · 20 citations
    8. A missense mutation in the P2RY5 gene leading to autosomal recessive woolly hair in a Syrian patient Journal of Dermatological Science · 2009 · 13 citations
    9. Novel missense mutation in the EDA gene in a family affected by oligodontia 2016 · 12 citations
    10. A disease-causing novel missense mutation in the ST14 gene underlies autosomal recessive ichthyosis with hypotrichosis syndrome in a consanguineous family 2018 · 9 citations
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