E-cadgerin germline mutations in familial gastric cancer

Article Abstract:

Research into familial clustering of cases of gastric cancer has used genetic linkage analysis to show significant linkage to markers flanking the gene for the calcium-dependent cell-adhesion protein E-cadherin. Reduced E-cadherin expression is connected with aggressive, poorly differentiated carcinomas. Loss of E-cadherin function and the related disruption of normal cell-cell adhesion could also play a part in the initiation of cell proliferation by permitting escape from growth-control signals.

Causes of, Cell adhesion, Stomach cancer

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Defective myosin VIIA gene responsible for Usher syndrome type 1B

Article Abstract:

Genetic studies on the Usher syndrome type I (USH-1), which causes the dual sensory defect deaf-blindness in humans, through an analysis of mutations containing the shaker-1 mutation, indicate myosin VIIA encoded gene to be the cause of USH1B. A primary cytoskeletal protein deficiency due to the mutations in the protein's motor domain N-terminal causes USH1B, which induces cytoskeletal defects in the affected.

Analysis, Mutation (Biology), Mutation, Cytoskeletal proteins, Blind deaf persons, Blind-deaf, Usher's syndrome

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Connexin 26 gene linked to a dominant deafness

Article Abstract:

Genetic research shows that deafness is caused by the expression of a gene Cx26 mutation. The mutated gene caused deafness in both dominant and recessive gene expression. Evidence suggests that Cx26 causes a minor proportion of autosomal dominant deafness, but is responsible for a large proportion of hearing loss cases in its autosomal recessive form.

Genetic aspects, Human genetics, Hearing

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