Frameshift Mutation

Publication Title: 
Experimental Cell Research

Expression of the catalytic subunit of human telomerase, hTERT, extends human primary fibroblast life span. Such life span extension has generally been reported to be accompanied by net telomere lengthening, which led to the hypothesis that it is the telomere lengthening that causes the life span extension. Here we show that hTERT+C and hTERT-FlagC, mutant telomerase proteins with either 10 additional residues or a FLAG epitope added to the hTERT C-terminus, confer significant but limited life span extension to IMR90 human primary lung fibroblasts.

Author(s): 
Kim, Moses
Xu, Lifeng
Blackburn, Elizabeth H.
Publication Title: 
International Journal of Molecular Sciences

Rubinstein-Taybi syndrome (RSTS) is a rare condition with a prevalence of 1 in 125,000-720,000 births and characterized by clinical features that include facial, dental, and limb dysmorphology and growth retardation. Most cases of RSTS occur sporadically and are caused by de novo mutations. Cytogenetic or molecular abnormalities are detected in only 55% of RSTS cases. Previous genetic studies have yielded inconsistent results due to the variety of methods used for genetic analysis.

Author(s): 
Yoo, Hee Jeong
Kim, Kyung
Kim, In Hyang
Rho, Seong-Hwan
Park, Jong-Eun
Lee, Ki Young
Kim, Soon Ae
Choi, Byung Yoon
Kim, Namshin
Publication Title: 
Mutagenesis

Scientific information regarding plants used in folk medicine in the form of teas and their effect on human health or on genetic material has been the subject of many different types of investigation. The antimutagenic activity of two plants Maytenus ilicifolia and Peltastes peltatus, both rich in compounds of the flavonoid and tannin groups and frequently employed in folk medicine, was studied.

Author(s): 
Horn, Rubem Cesar
Vargas, Vera Maria Ferrão
Publication Title: 
American Journal of Human Genetics

Acute intermittent porphyria (AIP) is the major autosomal dominant form of acute hepatic porphyrias. The disease is due to mutations in the gene encoding for porphobilinogen (PBG) deaminase and is characterized by life-threatening neurovisceral attacks, often precipitated by drugs, fasting, cyclical hormonal changes, or infectious diseases. This report describes a prospective study on the molecular epidemiology of PBG deaminase gene defects in AIP.

Author(s): 
Puy, H.
Deybach, J. C.
Lamoril, J.
Robreau, A. M.
Da Silva, V.
Gouya, L.
Grandchamp, B.
Nordmann, Y.
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