Medical genetics in the genomic medicine of the 21st century
Article Abstract:
Medical genetics, medical geneticists and genomic medicine are defined and the roles of medical genetics and medical geneticists in the development of genomic medicine are described. It is observed that medical geneticists need to broaden their perspectives and interact closely with primary-care providers and other specialists to enable medical genetics to become an essential part of the genomic medicine of the 21st century.
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 2006
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A missense mutation in the zinc-finger domain of the human hairless gene underlies congenital atrichia in a family of Irish travellers
Article Abstract:
Research shows that a human hairless gene mutation is responsible for congenital atrichia, a recessively inherited absence of hair follicles in both males and females. Using a large family of inbred Irish Travellers as subjects, scientists found that the mutation affects the zinc-finger transcription-factor protein which is crucial in regulating hair cycle catagen remodeling.
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 1998
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Gross deletions involving IGHM, BTK, or Artemis: a model for genomic lesions mediated by transposable elements
Article Abstract:
A model of the genomic lesions is used to study and characterize the gross deletion breakpoints in patients with the deficiency of IGHM, BTK or Artemis genes. The analysis reveals that the high content of transposable elements (TE) lead to an increase in the gross deletions in the patients.
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 2008
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