Drosophila TRP channels require a protein with a distinctive motif encoded by the inaF locus

bianjie submitted, created time 1 year 2 months (www.pnas.org)

In both vertebrates and invertebrates, ion channels of the TRP superfamily are known to be influenced by a variety of accessory factors, but the list of interacting proteins is acknowledged to be incomplete. Although previous work showed that Drosophila TRP function is disrupted by mutations in the inaF locus, the mechanism of this effect has remained obscure.

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Genome update defines landscape of breast and colon cancers

james submitted, created time 1 year 2 months (www.eurekalert.org)

One year after completing the first large-scale report sequencing breast and colon cancer genes, Johns Hopkins Kimmel Cancer Center scientists have studied the vast majority of protein-coding genes which now suggest a landscape dominated by genes that each are mutated in relatively few cancers.

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Declining p53 function in the aging process: A possible mechanism for the increased tumor incidence in older populations

sumsung submitted, created time 1 year 2 months (www.pnas.org)

Cancer is a disease of aging. The accumulation of mutations in individual cells over a lifetime is thought to be the reason. In this work, we explored an additional hypothesis: could p53 function decline with age, which would contribute to an enhanced mutation frequency and tumorigenesis in the aging process.

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Mutations in the insulin gene can cause neonatal diabetes

bianjie submitted, created time 1 year 3 months (www.eurekalert.org)

Insulin gene mutations can cause permanent neonatal diabetes, a rare form of diabetes that affects very young children. This is the first time that an insulin mutation has been connected to severe early onset diabetes.

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New gene mutation identified in common type of dementia

bianjie submitted, created time 1 year 5 months (www.eurekalert.org)

Researchers have identified a new gene mutation linked to frontotemporal dementia, according to a study published in the July 10, 2007 issue of Neurology, the medical journal of the American Academy of Neurology.

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Distal myopathy caused by homozygous missense mutations in the nebulin gene

julie submitted, created time 1 year 7 months (brain.oxfordjournals.org)

"We describe a novel, recessively inherited distal myopathy caused by homozygous missense mutations in the nebulin gene (NEB), in which other combinations of mutations are known to cause nemaline (rod) myopathy (NM). Two different missense mutations were identified in homozygous form in seven Finnish patients from four unrelated families with childhood or adult-onset foot drop. Both mutations, when combined in compound heterozygous form with more disruptive mutations in NEB, are known to cause NM. Hitherto, no patients with NM have been found to have two missense mutations in NEB

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Identification and characterization of Birt-Hogg-Dubé associated renal carcinoma

BIOBOSS submitted, created time 1 year 10 months (www3.interscience.wiley.com)

Birt-Hogg-Dubé syndrome is a rare disorder that affects the skin and lungs and increases the risk of certain types of tumors. The condition is characterized by multiple noncancerous (benign) skin tumors, particularly on the face, neck, and upper chest. These growths typically first appear in a person's twenties or thirties and become larger and more numerous over time. Affected individuals also have a higher chance of developing cysts in the lungs and an abnormal accumulation of air in the chest cavity (pneumothorax) that may result in the collapse of a lung

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Did Honest Abe Have Nerves of Glass?

catherine submitted, created time 1 year 11 months (www.sciam.com)

Some contemporaries of Abraham Lincoln described the 16th U.S. president as exhibiting awkward mannerisms and a clumsy gait. About a year ago, researchers at the University of Minnesota announced the discovery of a gene for a rare neurodegenerative disorder called spinocerebellar ataxia type 5 (SCA5)—which can strike between early childhood and old age, affecting speech, writing and/or movement—in a family descended from Lincoln. Scientists say the president himself had a one-in-four chance of suffering from the disease, which affects about 0

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Do you know that macular degeneration has a strong genetic link?

catherine submitted, created time 1 year 11 months (www.sciam.com)

A new study has fount that a specific form of the apolipoprotein E (APOE) gene, called E2, increases the risk of age-related macular degeneration well beyond the age of 65, whereas another form of APOE called E4, may confer some protection.

Previous studies that have examined the possible link between APOE and age-related macular degeneration have suggested an association but only confined to younger...patients. The current study suggests that there is a genetic influence on the development of age-related macular degeneration, even in older people

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