Mechanisms of cell death in the inherited retinal degenerations
Article Abstract:
It is important to understand the import of every molecular defect on the biology of photoreceptors in humans and to understand how the effects converge in the apoptotic pathway, but little is known about photoreceptor-cell death mechanisms in humans because of lack of surgical and autopsy specimens of retinas. Inherited blinding diseases to which humans are vulnerable are many and varied, but most involve photoreceptor-cell death. The vertebrate visual system has been forced close to its thermodynamic limitations by evolution, and the price is quick and easy cell death when an environmental insult or genetic lesion occurs. Retinosa pigmentosa (RP) is the prototypical disease in photoreceptor-cell death diseases. Mutations in various unrelated genes can bring on RP, but different alleles on one gene can bring on clinically disparate retinal diseases.
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 1998
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Genome scan for human obesity and linkage to markers in 20q13
Article Abstract:
It seems one or more genes related to human obesity are in 20q13. A genome scan based on 354 markers in 513 members of 92 nuclear families chosen for extreme obesity-normal body weight has been carried out for obesity and linkage to markers in 20q13. Four correlated obesity phenotypes including the body-mass index (BMI) and percentage of fat as assessed by bioelectric impedance were looked at. Several candidate genes were found.to be plausible.
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 1999
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