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Letter to the Editor DOI: 10.5152/tjh.2011.47 Endothelial Protein C Receptor gene Expression in a Female with Homozygous EPCR gene 23 - bp Insertion Homozigot EPCR 23 -baz çifti Insersiyona Sahip ...
, Fung , M. Transcriptional modulation of the human complement factor I gene in Hep-G2 cells by protein kinase C activation . Mol Cell Bioch 1999 ; 201 : 111 – 23 . Google Scholar Crossref Search ADS ...
blood mononuclear cells from patient A-V–2 revealed that the homozygous c .1461+1G> C mutation led to a 23 - bp frameshift insertion into intron 10, resulting in a premature stop codon (p.I488Lfs*11) (S2 Fig ...
sequencing, we detected a homozygous frameshift mutation ( c .140delT, p.L48*) in the JAM2 gene in a consanguineous family with two affected siblings diagnosed with primary familial brain calcification. Further ...
temperatures for study of the various fragments of FLT3 receptor protein . For detection of point mutations, we tried a set of temperatures within a range spanning 55.5–59.8 ° C . We loaded 8-μL aliquots of crude ...
, Vanden Berghe W , Haegeman G . The interplay between the glucocorticoid receptor and nuclear factor-κB or activator protein -1: molecular mechanisms for gene repression . Endocr Rev . 2003 ; 24 : 488 – 522 ...
and activin receptor -like kinase-1 (ALK-1), respectively. Expression of these genes is mainly restricted to vascular endothelial cells. They mediate binding and signaling of transforming growth factor β (TGFβ ...
Abstract Meesmann epithelial corneal dystrophy (MECD) is a rare autosomal dominant disorder caused by dominant-negative mutations within the KRT3 or KRT12 genes , which encode the cytoskeletal protein ...
offers an alternative, powerful approach to abolish gene function by random insertion of DNA. A protein trap construct typically contains a splice acceptor site immediately upstream of a promoter-less ...
Abstract The endothelin-converting enzyme (ECE)-1 gene is a candidate for human blood pressure ( BP ) regulation and we report the identification of the new gene variants T-839G, C -338A, L75F, A677V ...
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