نتایج جستجو برای: spliced variants

تعداد نتایج: 114651  

Journal: :The Journal of Cell Biology 1995
K L Bennett D G Jackson J C Simon E Tanczos R Peach B Modrell I Stamenkovic G Plowman A Aruffo

Glycosaminoglycan-modified isoforms of CD44 have been implicated in growth factor presentation at sites of inflammation. In the present study we show that COS cell transfectants expressing CD44 isoforms containing the alternatively spliced exon V3 are modified with heparan sulfate (HS). Binding studies with three HS-binding growth factors, basic-fibroblast growth factor (b-FGF), heparin binding...

Journal: :Proceedings of the National Academy of Sciences of the United States of America 2004
Didier Auboeuf Dennis H Dowhan Yun Kyoung Kang Kimberly Larkin Jae Woon Lee Susan M Berget Bert W O'Malley

The biological consequences of steroid hormone-mediated transcriptional activation of target genes might be difficult to predict because alternative splicing of a single neosynthesized precursor RNA can result in production of different protein isoforms with opposite biological activities. Therefore, an important question to address is the manner in which steroid hormones affect the splicing of...

1999
W. Baehr S. Yokoyama

An isoform of RGS9 was recently identified as the GTPase activating protein in bovine and mouse rod and cone photoreceptors. To explore the potential role of the RGS9 gene in human retinal disease, we determined its exon/intron arrangement, and investigated its expression in human retina. The results show that the gene, located on 17q24, consists of 19 exons and spans more than 75 kb of genomic...

2010
Hisayo Sadamoto Takashi Kitahashi Yutaka Fujito Etsuro Ito

Cyclic AMP-responsive element binding protein1 (CREB1) has multiple functions in gene regulation. Various studies have reported that CREB1-dependent gene induction is necessary for memory formation and long-lasting behavioral changes in both vertebrates and invertebrates. In the present study, we characterized Lymnaea CREB1 (LymCREB1) mRNA isoforms of spliced variants in the central nervous sys...

2017
Ivone U.S. Leong Philippa A. Dryland Debra O. Prosser Stella W.-S. Lai Mandy Graham Martin Stiles Jackie Crawford Jonathan R. Skinner Donald R. Love

BACKGROUND Approximately 75% of clinically definite long QT syndrome (LQTS) cases are caused by mutations in the KCNQ1, KCNH2 and SCN5A genes. Of these mutations, a small proportion (3.2-9.2%) are predicted to affect splicing. These mutations present a particular challenge in ascribing pathogenicity. METHODS Here we report an analysis of the transcriptional consequences of two mutations, one ...

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