نتایج جستجو برای: splice variant

تعداد نتایج: 106832  

Journal: :Molecular pharmacology 2002
Stuart J Mundell Anne-Lise Matharu Giordano Pula David Holman Peter J Roberts Eamonn Kelly

In this study, we characterized the glutamate- or second-messenger kinase-dependent internalization of the rat metabotropic glutamate receptor 1 (mGluR1) splice variants 1a, 1b, and 1c, and assessed the arrestin and dynamin dependence of these processes. To facilitate this we inserted a hemagglutinin epitope tag in the extracellular N-terminal domain of the splice variants. Quantification of gl...

Journal: :Clinical cancer research : an official journal of the American Association for Cancer Research 2008
Carmen J Marsit Candice C Black Marshall R Posner Karl T Kelsey

PURPOSE The variant allele of CCND1 G870A encodes a splice variant of the cyclin D1 protein, which possesses an increased half-life. To confirm the phenotypic effect of the variant allele, we examined the immunohistochemical staining pattern of the protein in tumors from a case population of head and neck squamous cell carcinoma (HNSCC) and compared it with the genotype of these individuals. We...

Journal: :Investigative ophthalmology & visual science 2006
Arijit Mukhopadhyay Konstantinos Nikopoulos Alessandra Maugeri Arjan P M de Brouwer C Eric van Nouhuys Camiel J F Boon Rahat Perveen Hester A A Zegers Dienke Wittebol-Post Pieter R van den Biesen Saskia D van der Velde-Visser Han G Brunner Graeme C M Black Carel B Hoyng Frans P M Cremers

PURPOSE Linkage intervals for erosive vitreoretinopathy (ERVR) and Wagner disease previously were found to overlap at 5q14.3. In a Japanese family with Wagner disease, a CSPG2/Versican splice site mutation (c.4004-2A-->G) was recently reported that resulted in a 39-nucleotide exon 8 in-frame deletion. We investigated whether CSPG2/Versican was mutated in six Dutch families and one Chinese famil...

Journal: :Molecular Genetics & Genomic Medicine 2020

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