نتایج جستجو برای: splice variant

تعداد نتایج: 106832  

Journal: :Endocrinology 2001
L Wang D Y Oh J Bogerd H S Choi R S Ahn J Y Seong H B Kwon

Recently we characterized three distinct GnRH receptors in the bullfrog (bfGnRHR-1, bfGnRHR-2, and bfGnRHR-3). In the present study, we further investigated the expression and function of splice variants, generated from the primary bfGnRHR-3 transcript by exon skipping (splice variant 1), intron retention (splice variants 2 and 3), and/or transcriptional slippage (splice variant 4), apart from ...

Journal: :Clinical cancer research : an official journal of the American Association for Cancer Research 2001
C Qin C Wilson C Blancher M Taylor S Safe A L Harris

The aryl hydrocarbon receptor nuclear translocator (ARNT) is a basic helix-loop-helix transcription factor that forms heterodimers with the aryl hydrocarbon receptor (AhR) or hypoxia inducible factor-1alpha to activate transcription via xenobiotic response element or hypoxia response element, respectively. Thus, it plays a major role in two key biochemical pathways involved in tumor growth. We ...

Journal: :Molecular & cellular proteomics : MCP 2014
Yafeng Zhu Lina Hultin-Rosenberg Jenny Forshed Rui M M Branca Lukas M Orre Janne Lehtiö

Alternative splicing is a pervasive process in eukaryotic organisms. More than 90% of human genes have alternatively spliced products, and aberrant splicing has been shown to be associated with many diseases. Current methods employed in the detection of splice variants include prediction by clustering of expressed sequence tags, exon microarray, and mRNA sequencing, all methods focusing on RNA-...

2016
Susan N. Bolch Donald R. Dugger Timothy Chong J. Hugh McDowell W. Clay Smith Anand Swaroop

PURPOSE Bardet-Biedl syndrome is a complex ciliopathy that usually manifests with some form of retinal degeneration, amongst other ciliary-related deficiencies. One of the genetic causes of this syndrome results from a defect in Bardet-Biedl Syndrome 5 (BBS5) protein. BBS5 is one component of the BBSome, a complex of proteins that regulates the protein composition in cilia. In this study, we id...

Journal: :Biological chemistry 2012
Vida Puizdar Tajana Zajc Eva Zerovnik Miha Renko Ursula Pieper Narayanan Eswar Andrej Sali Iztok Dolenc Vito Turk

Cathepsin E splice variant 2 appears in a number of gastric carcinomas. Here we report detecting this variant in HeLa cells using polyclonal antibodies and biotinylated inhibitor pepstatin A. An overexpression of GFP fusion proteins of cathepsin E and its splice variant within HEK-293T cells was performed to show their localization. Their distribution under a fluorescence microscope showed that...

Journal: :Clinical chemistry 2007
Eleni Mavrogiannou Areti Strati Aliki Stathopoulou Emily G Tsaroucha Loukas Kaklamanis Evi S Lianidou

BACKGROUND We developed and validated a real-time reverse transcription (RT)-PCR for the quantification of 4 individual human telomerase reverse transcriptase (TERT) splice variants (alpha+beta+, alpha-beta+, alpha+beta-, alpha-beta-) in tumor cell lines and non-small cell lung cancer (NSCLC). METHODS We used in silico designed primers and a common TaqMan probe for highly specific amplificati...

Journal: :Clinical chemistry 2005
Iacovos P Michael Lisa Kurlender Nader Memari George M Yousef Daisy Du Linda Grass Carsten Stephan Klaus Jung Eleftherios P Diamandis

BACKGROUND All human kallikrein (KLK) genes have at least one splice variant, some of which possess clinical utility in cancer diagnostics/prognostics. Given that introns <100 bp in length are retained in 95% of human genes and that splice variants of KLK3 and KLK4 retain intron III, we hypothesized that other proteins in this family, with a small intron III, may also retain it. METHODS Varia...

Journal: :Virology 2000
G Sommer F van Bömmel H Will

Hepatitis B virus-infected patients frequently have viral particles with DNA derived from differently spliced RNA. Which factors influence the synthesis of these splice variants is unclear. We analysed the type of splice variants produced from different genotypes and determined whether they are secreted as efficiently as wild-type virus. We demonstrate production of a single splice variant from...

Journal: :The Journal of pharmacology and experimental therapeutics 1999
L P Audoly L Ma I Feoktistov S K de Foe M D Breyer R M Breyer

The prostaglandin E-prostanoid (EP)3 receptor signals primarily through the inhibitory G protein Gi, thereby decreasing intracellular cAMP levels. To study the signal transduction properties of the rabbit EP3 receptor, five splice variants were expressed in HEK293tsA201 cells: 72A, 74A, 77A, 80A and the novel splice variant NT, which lacks the C-terminal sequence. The ability of the EP3 recepto...

2016
Takeshi Yoshimura Sharon R. Stevens Cristophe Leterrier Michael C. Stankewich Matthew N. Rasband

Axon initial segments (AIS) and nodes of Ranvier are highly specialized axonal membrane domains enriched in Na+ channels. These Na+ channel clusters play essential roles in action potential initiation and propagation. AIS and nodal Na+ channel complexes are linked to the actin cytoskeleton through βIV spectrin. However, neuronal βIV spectrin exists as two main splice variants: a longer βIVΣ1 va...

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