June 2010
Colorectal cancer, TGF-β signaling and SMADs
Colorectal cancer (CRC) being the commonest cancer, is the major cause of mortality and morbidity worldwide. TGF-β pathway is one of the important pathways that play a prominent role in cell proliferation, differentiation, migration and apoptosis. Smad dependent TGF-β signaling cascade is responsible for the regulation and expression of almost 500 odd genes, which in turn play...
June 2010
Allozyme variations in leaf esterase and root peroxidase isozymes and linkage with dwarfing genes in induced dwarf mutants of grass pea (Lathyrus sativus L.)
Genetic basis of different leaf esterase and root peroxidase isozymes was investigated by analyzing their zymogram phenotypes in selfed and intercrossed progenies of two local varieties (used as control) and three induced true breeding dwarf mutant lines of grass pea (Lathyrus sativus L.). Two non-allelic genes, df1/df2 and df3 controlling dwarfism in grass pea were...
June 2010
Lack of DLAD mutations in age-related nuclear cataract
DNase II like acid DNase (DNase IIβ, DLAD) is expressed in human and murine cells in the lens. Studies in mice have reported that abnormal degeneration of cellular organelles by DLAD reduced lens transparency and that the DLAD gene may be involved in cataract formation. The aim of the present study was to search for possible genetic alterations in the DLAD gene in human senile...
June 2010
A rare event of maternal UPD in a proband with congenital non-syndromic hearing impairment with homozygosity for gjb2 p.w24x mutation
In the present study, the authors reported a family of a male proband with prelingual, profound non-syndromic hearing impairment homozygous for p.W24X mutation in GJB2gene, arising as a result of maternal uniparental disomy of a part of chromosome 13q. Key words: Hearing impairment, p.W24X mutation, uniparental disomy.
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