Getting the T-box dose right
Article Abstract:
A physiological and genetic model of Holt-Oram syndrome is presented, a syndrome characterized by mutations in the TBX5 or T-box transcription factor gene family that lead to congenital deformities. Research is presented on how different levels of TBX5 gene expression impact limb and heart development in several species.
Publication Name: Nature Medicine
Subject: Health
ISSN: 1078-8956
Year: 2001
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The vision of Typhoon Lengkieki
Article Abstract:
Research presented concerns the genetic aspects of colorblindness in a human population in Micronesia devastated by Typhoon Lengkieki. Topics addressed include recessive genes, human population genetics, and disease phenotype.
Publication Name: Nature Medicine
Subject: Health
ISSN: 1078-8956
Year: 2000
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Restoration of cone vision in a mouse model of achromatopsia
Article Abstract:
The adeno-associated virus (AAV) gene therapy used to target cones and rescue both the cone-mediated electroretinogram response and visual acuity in the Gnat2 mouse model of achromatopsia is demonstrated.
Publication Name: Nature Medicine
Subject: Health
ISSN: 1078-8956
Year: 2007
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