Results 41 to 50 of about 143,230 (264)

A mutation hotspot at the p14ARF splice site [PDF]

Oncogene, 2005
Germline mutations of CDKN2A that affect the p16INK4a transcript have been identified in numerous melanoma pedigrees worldwide. In the UK, over 50% of pedigrees with three or more cases of melanoma have been found to carry mutations of CDKN2A. Mutations that affect p14ARF exon 1beta exclusively are very rare.
Mark, Harland, Claire F, Taylor, Philip A, Chambers, Kairen, Kukalizch, Juliette A, Randerson-Moor, Nelleke A, Gruis, Femke A, de Snoo, Jeanet A C, ter Huurne, Alisa M, Goldstein, Margaret A, Tucker, D Timothy, Bishop, Julia A Newton, Bishop   +11 more
openaire   +2 more sources

Organ‐specific redox imbalances in spinal muscular atrophy mice are partially rescued by SMN antisense oligonucleotides

FEBS Letters, EarlyView.
We identified a systemic, progressive loss of protein S‐glutathionylation—detected by nonreducing western blotting—alongside dysregulation of glutathione‐cycle enzymes in both neuronal and peripheral tissues of Taiwanese SMA mice. These alterations were partially rescued by SMN antisense oligonucleotide therapy, revealing persistent redox imbalance as ...
Sofia Vrettou, Brunhilde Wirth
wiley   +1 more source

Rare occurrence of cryptic 5’ splice sites by downstream 3’ splice site/exon boundary mutations in a heavy-ion-induced egy1-4 allele of Arabidopsis thaliana

Frontiers in Plant Science
Pre-mRNA splicing is a fundamental process in eukaryotic gene expression, and the mechanism of intron definition, involving the recognition of the canonical GU (5’-splice site) and AG (3’-splice site) dinucleotides by splicing factors, has been ...
Alvin Sanjaya, Alvin Sanjaya, Ryo Nishijima, Yuki Fujii, Makoto Asano, Kotaro Ishii, Yusuke Kazama, Yusuke Kazama, Tomoko Abe, Makoto T. Fujiwara, Makoto T. Fujiwara   +10 more
doaj   +1 more source

Valosin‐containing protein counteracts ATP‐driven dissolution of FUS condensates through its ATPase activity in vitro

FEBS Letters, EarlyView.
Biomolecular condensates formed by fused in sarcoma (FUS) are dissolved by high ATP concentrations yet persist in cells. Using a reconstituted system, we demonstrate that valosin‐containing protein (VCP), an AAA+ ATPase, counteracts ATP‐driven dissolution of FUS condensates through its D2 ATPase activity.
Hitomi Kimura, Shin‐ichi Tate, Kyota Yasuda   +2 more
wiley   +1 more source

The emergence of alternative 3' and 5' splice site exons from constitutive exons. [PDF]

PLoS Computational Biology, 2007
Alternative 3' and 5' splice site (ss) events constitute a significant part of all alternative splicing events. These events were also found to be related to several aberrant splicing diseases.
Eli Koren, Galit Lev-Maor, Gil Ast
doaj   +1 more source

Modeling splicing sites with pairwise correlations [PDF]

Bioinformatics, 2002
Abstract Motivation: A new method for finding subtle patterns in sequences is introduced. It approximates the multiple correlations among residuals with pair-wise correlations, with the learning cost O(m2n) where n is the number of training sequences, each of length m.
Masanori Arita, Koji Tsuda, Kiyoshi Asai
openaire   +2 more sources

Epigenetic blind spots – the role of DNA methylation dynamics in stem cell‐based models of embryogenesis

FEBS Letters, EarlyView.
Embryo‐like structures (stembryos) are an innovative tool, but they are hindered by experimental variability and limited developmental potential. DNA methylation is crucial for mammalian development, but its status in stembryo models is poorly characterized.
Sara Canil, Anna Corrà, Annalisa Scapolatiello, Chengxiang Qiu, Gianluca Amadei   +4 more
wiley   +1 more source

Modulation of Homer1 EVH1 domain internal dynamics by putative autism‐associated mutations

FEBS Letters, EarlyView.
The putative autism‐associated M65I and S97L variants of the EVH1 domain of the postsynaptic scaffold protein Homer1 do not exhibit substantial changes in their overall structure or partner binding. Both of them, but especially the M65I variant, show altered internal dynamics relative to the wild‐type domain on the μs‐ms timescale, indicated by the ...
Fanni Farkas, Brigitta Maruzs, Zsófia E. Kálmán, Tomas Klumpler, Gyula Batta, Bálint Péterfia, Zoltán Gáspári   +6 more
wiley   +1 more source

Comparison of splice sites in mammals and chicken [PDF]

Genome Research, 2004
We have carried out an initial analysis of the dynamics of the recent evolution of the splice-sites sequences on a large collection of human, rodent (mouse and rat), and chicken introns. Our results indicate that the sequences of splice sites are largely homogeneous within tetrapoda.
Abril Ferrando, Josep Francesc, 1970-, Castelo Valdueza, Robert, Guigó, Roderic   +2 more
openaire   +4 more sources

Three phosphatase families form a community: The phosphohydrolases that act upon inositol pyrophosphates

FEBS Letters, EarlyView.
Inositol pyrophosphates are energy‐rich signaling molecules that perform critical functions in cells. Three different families of phosphatases hydrolyze the β phosphate of the inositol pyrophosphate molecules: two have narrow specificities and one is promiscuous.
Ronda J. Rolfes
wiley   +1 more source