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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.

Author: Basson, Craig T., Hatcher, Cathy J.
Publisher: Nature America, Inc.
Publication Name: Nature Medicine
Subject: Health
ISSN: 1078-8956
Year: 2001
Birth defects, Gene expression, Genetic disorders

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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.

Author: Sheffield, Val C.
Publisher: Nature America, Inc.
Publication Name: Nature Medicine
Subject: Health
ISSN: 1078-8956
Year: 2000
Micronesia, Demographic aspects, Human population genetics, Micronesia (Nation)

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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.

Author: Bo Chang, Hawes, Norman L., Alexander, John J., Umino Yumiko, Everhart, Drew, Seok H. Min, Qiuhong Li, Timmers, Adrian M., Ji-Jing Pang, Barlow, Robert B., Hauswirth, William W.
Publisher: Nature America, Inc.
Publication Name: Nature Medicine
Subject: Health
ISSN: 1078-8956
Year: 2007
Health aspects, Gene therapy, Colour blindness

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Subjects list: Research, Gene mutations, Gene mutation, Genetic aspects, Color blindness
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