نتایج جستجو برای: exon 10

تعداد نتایج: 1036812  

Journal: :International Journal of Molecular Sciences 2021

ژورنال: دانشور پزشکی 2018
اکبرزاده باغبان, رضا, حاج منوچهری, صدیقه, طباطبائی پناه, پردیس سادات,

Background and Objective: Bullous pemphigoid (BP) is the most frequently occurring entity among autoimmune bullous skin diseases. Although the genetic determinants of BP have not been precisely elucidated, some studies have shown an association between a mutation in Exon 10 of COL17A1 gene (rs805708) and BP disease susceptibility. Yet, these findings had so far not been independently replicated...

Journal: :Proceedings of the National Academy of Sciences of the United States of America 2003
Heather L Wiegand Shihua Lu Bryan R Cullen

Intron-containing genes are generally expressed more effectively in human cells than are intronless versions of the same gene. We have asked whether this effect is due directly to splicing or instead reflects the action of components of the exon junction complex (EJC) that is assembled at splice junctions after splicing is completed. Here, we show that intron removal does not enhance gene expre...

Journal: :Cell 2010
Dariel Ashton-Beaucage Christian M. Udell Hugo Lavoie Caroline Baril Martin Lefrançois Pierre Chagnon Patrick Gendron Olivier Caron-Lizotte Éric Bonneil Pierre Thibault Marc Therrien

Signaling pathways are controlled by a vast array of posttranslational mechanisms. By contrast, little is known regarding the mechanisms that regulate the expression of their core components. We conducted an RNAi screen in Drosophila for factors modulating RAS/MAPK signaling and identified the Exon Junction Complex (EJC) as a key element of this pathway. The EJC binds the exon-exon junctions of...

Journal: :Molecular and cellular biology 2006
Jane Y Wu Amar Kar David Kuo Bing Yu Necat Havlioglu

The tau gene encodes a microtubule-associated protein that is critical for neuronal survival and function. Splicing defects in the human tau gene lead to frontotemporal dementia with Parkinsonism linked to chromosome 17 (FTDP-17), an autosomal dominant neurodegenerative disorder. Genetic mutations associated with FTDP-17 often affect tau exon 10 alternative splicing. To investigate mechanisms r...

Journal: :Cell 2009
Alvar Trucco Imre Gaspar Anne Ephrussi

oskar mRNA localization at the oocyte posterior pole is essential for correct patterning of the Drosophila embryo. Here we show at the ultrastructural level that endogenous oskar ribonucleoprotein complexes (RNPs) assemble sequentially with initial recruitment of Hrp48 and the exon junction complex (EJC) to oskar transcripts in the nurse cell nuclei, and subsequent recruitment of Staufen and mi...

Journal: :The Journal of biological chemistry 2004
Naoyuki Kataoka Gideon Dreyfuss

Pre-mRNA splicing removes introns and leaves in its wake a multiprotein complex near the exon-exon junctions of mRNAs. This complex, termed the exon-exon junction complex (EJC), contains at least seven proteins and provides a link between pre-mRNA splicing and downstream events, including transport, localization, and nonsense-mediated mRNA decay. Using a simple whole cell lysate system we devel...

Journal: :Current Biology 2002
Josée Dostie Gideon Dreyfuss

BACKGROUND Y14 is an RNA binding protein which is part of a multiprotein complex, the exon-exon junction complex (EJC), that assembles on the exon-exon junctions of mRNAs produced by splicing. The position-specific binding of Y14 persists on mRNAs after their export to the cytoplasm. Thus, Y14, together with its interacting proteins, has the capacity to communicate to the cytoplasm the processi...

Journal: :RNA 2009
Ute Schmidt Kang-Bin Im Carola Benzing Snjezana Janjetovic Karsten Rippe Peter Lichter Malte Wachsmuth

The exon-exon junction complex (EJC) forms via association of proteins during splicing of mRNA in a defined manner. Its organization provides a link between biogenesis, nuclear export, and translation of the transcripts. The EJC proteins accumulate in nuclear speckles alongside most other splicing-related factors. We followed the establishment of the EJC on mRNA by investigating the mobility an...

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