Variable expressivity and mutation databases: The androgen receptor gene mutations database

@article{Gottlieb2001VariableEA,
  title={Variable expressivity and mutation databases: The androgen receptor gene mutations database},
  author={B. Gottlieb and L. Beitel and M. Trifiro},
  journal={Human Mutation},
  year={2001},
  volume={17}
}
  • B. Gottlieb, L. Beitel, M. Trifiro
  • Published 2001
  • Biology, Medicine
  • Human Mutation
    • For over 50 years genetics has presumed that variations in phenotypic expression have, for the most part, been the result of alterations in genotype. The importance and value of mutation databases has been based on the premise that the same gene or allelic variation in a specific gene that has been proven to determine a specific phenotype, will always produce the same phenotype. However, recent evidence has shown that so called “simple” Mendelian disorders or monogenic traits are often far from… CONTINUE READING
    View on Wiley
    ncbi.nlm.nih.gov
    59 Citations
    Background Citations
    16
    59 Citations
    Citation Type

    Citation Type

    Phenotypic Heterogeneity Associated with Identical Mutations in Residue 870 of the Androgen Receptor
    • 24
    Androgen receptor mutations and androgen insensitivity
    • M. J. McPhaul
    • Biology, Medicine
    • Molecular and Cellular Endocrinology
    • 2002
    • 84
    Phenotypic heterogeneity of mutations in androgen receptor gene.
    • 148
    • PDF
    Molecular biology of androgen insensitivity
    • 63
    Androgen insensitivity syndrome: somatic mosaicism of the androgen receptor in seven families and consequences for sex assignment and genetic counseling.
    • 74
    • PDF
    Novel androgen receptor gene mutations in Australian patients with complete androgen insensitivity syndrome
    • 22
    L859F mutation in androgen receptor gene results in complete loss of androgen binding to the receptor.
    • 13
    • PDF
    A novel mutation (c.T3816 > C) in the androgen receptor gene in a 46,XY female patient with androgen insensitivity syndrome.
    • 1
    • PDF
    Pathophysiology of androgen insensitivity syndromes: molecular and structural approaches of natural and engineered androgen receptor mutations at amino acid 743.
    • 12
    • PDF
    Functional analysis of a novel androgen receptor mutation, Q902K, in an individual with partial androgen insensitivity.
    • 14
    • PDF

    References

    SHOWING 1-10 OF 30 REFERENCES
    Update of the androgen receptor gene mutations database
    • 112
    Mosaicism due to a somatic mutation of the androgen receptor gene determines phenotype in androgen insensitivity syndrome.
    • 84
    • PDF
    Inherited and de novo androgen receptor gene mutations: investigation of single-case families.
    • 85
    Androgen receptor gene mutations identified by SSCP in fourteen subjects with androgen insensitivity syndrome.
    • 132
    The androgen receptor gene mutations database
    • 169
    • PDF
    Analysis of exon 1 mutations in the androgen receptor gene
    • 39
    Mutations in the ligand-binding domain of the androgen receptor gene cluster in two regions of the gene.
    • 130
    • PDF
    Different phenotypes in a family with androgen insensitivity caused by the same M780I point mutation in the androgen receptor gene.
    • 77
    • PDF
    The clinical and molecular spectrum of androgen insensitivity syndromes.
    • 112
    OCRL1 mutation analysis in French Lowe syndrome patients: Implications for molecular diagnosis strategy and genetic counseling
    • 57