Results 21 to 30 of about 606,407 (214)

Mutation testing on an object-oriented framework: An experience report [PDF]

, 2011
This is the preprint version of the article - Copyright @ 2011 ElsevierContext The increasing presence of Object-Oriented (OO) programs in industrial systems is progressively drawing the attention of mutation researchers toward this paradigm.
Sergio Segura, Segura, S, Benavides, D, Antonio Ruiz-Cortés, Ruiz Cortés, Antonio, Segura Rueda, Sergio, Robert M. Hierons, Benavides Cuevas, David Felipe, Hierons, Robert M., David Benavides, Hierons, RM, Ruiz-Cortes, A   +11 more
core   +1 more source

Computational prediction of splicing regulatory elements shared by Tetrapoda organisms [PDF]

, 2009
Background: auxiliary splicing sequences play an important role in ensuring accurate and efficient splicing by promoting or repressing recognition of authentic splice sites.
Churbanov, Alexander, Hicks, Chindo, Churbanov Alexander, Vořechovský, Igor, Chindo Hicks, Vořechovský Igor, Hicks Chindo, Igor Vořechovský, Alexander Churbanov   +8 more
core   +1 more source

Identification and interpretation of TET2 noncanonical splicing site intronic variants in myeloid neoplasm patients

eJHaem, 2023
Background: DNA hypermethylation and instability due to inactivation mutations in Ten–eleven translocation 2 (TET2) is a key biomarker of hematological malignancies. This study aims at characterizing two intronic noncanonical splice‐site variants, c.3954+
Riku Das, Zheng Jin Tu, David S. Bosler, Yu‐Wei Cheng   +3 more
doaj   +1 more source

Analysis of colorectal cancers in British Bangladeshi identifies early onset, frequent mucinous histotype and a high prevalence of RBFOX1 deletion [PDF]

, 2013
Background Prevalence of colorectal cancer (CRC) in the British Bangladeshi population (BAN) is low compared to British Caucasians (CAU). Genetic background may influence mutations and disease features.
Sengupta, N, Silver Andrew, Suraweera, Nirosha, Sieber, O, Sakthianandeswaren, A, Oliver Sieber, Suraweera, N, Yau, C, Jean-Baptiste Cazier, Yau, Christopher, Andrew Silver, Sieber Oliver, Lai, Cecilia, Yau Christopher, Guadalupe Polanco-Echeverry, Mouradov, Dmitri, Neel Sengupta, Sieber, Oliver, Suraweera Nirosha, Christopher Yau, Sengupta Neel, Dorudi, Sina, Feakins, R, Cazier, Jean-Baptiste, Feakins Roger, Gibbs, Peter, Sina Dorudi, Cecilia Lai, Cazier, J-B, Silver, Andrew, Peter Gibbs, Ahmed Shafi, Ahmed, Shafi, David Propper, Propper David, Thaha, M, Sakthianandeswaren Anuratha, Silver, A, Anil Ghosh, Roger Feakins, Polanco-Echeverry Guadalupe, Ghosh, Anil, Sengupta, Neel, Mohamed Thaha, Ghosh Anil, Mouradov Dmitri, Cazier Jean-Baptiste, Propper, David, Thaha Mohamed, Nirosha Suraweera, Cazier, Jean-Baptiste; id_orcid, Cazier, JB, Lai Cecilia, Dorudi, S, Anuratha Sakthianandeswaren, Ghosh, A, Shafi Ahmed, Mouradov, D, Ahmed, S, Gibbs Peter, Lai, C, Feakins, Roger, Polanco-Echeverry, G, Thaha, Mohamed, Dorudi Sina, Polanco-Echeverry, Guadalupe, Sakthianandeswaren, Anuratha, Gibbs, P, Propper, D, Dmitri Mouradov   +69 more
core   +1 more source

Genome-wide survey and analysis of allele-specific mRNA splicing in human and mouse [PDF]

, 2008
Includes abstract.Includes bibliographical references (leaves 125-145).This dissertation aims to examine allele-specific splicing in human and mouse using publicly available datasets.
Nembaware, Victoria Precious
core   +1 more source

A novel LRAT mutation affecting splicing in a family with early onset retinitis pigmentosa

Human Genomics, 2018
Background and purpose Retinitis pigmentosa is an important cause of severe visual dysfunction. This study reports a novel splicing mutation in the lecithin retinol acyltransferase (LRAT) gene associated with early onset retinitis pigmentosa and ...
Yabin Chen, Li Huang, Xiaodong Jiao, Sheikh Riazuddin, S. Amer Riazuddin, J. Fielding Hetmancik   +5 more
doaj   +1 more source

Quantification of pre-mRNA escape rate and synergy in splicing [PDF]

, 2014
Splicing reactions generally combine high speed with accuracy. However, some of the pre-mRNAs escape the nucleus with a retained intron. Intron retention can control gene expression and increase proteome diversity.
Becskei, Attila, Bonde, M. (M) M. (M), Becskei, A. (A), Baudrimont, A. (A), Séraphin, B. (Bertrand), Mi Bonde, Marie, Voegeli, Sylvia, Bonde, Marie Mi, Baudrimont, Antoine, Voegeli, S. (S), Séraphin, Bertrand, Voegeli, S, Baudrimont, A, Becskei, A   +13 more
core   +1 more source

A missense mutation (Q279R) in the Fumarylacetoacetate Hydrolase gene, responsible for hereditary tyrosinemia, acts as a splicing mutation

BMC Genetics, 2001
Background Tyrosinemia type I, the most severe disease of the tyrosine catabolic pathway is caused by a deficiency in fumarylacetoacetate hydrolase (FAH).
Baklouti Faouzi, Levy Harvey L, Bergeron Anne, Poudrier Jacques A, Dreumont Natacha, Tanguay Robert M   +5 more
doaj   +1 more source

RBM5 is a male germ cell splicing factor and is required for spermatid differentiation and male fertility. [PDF]

PLoS Genetics, 2013
Alternative splicing of precursor messenger RNA (pre-mRNA) is common in mammalian cells and enables the production of multiple gene products from a single gene, thus increasing transcriptome and proteome diversity.
Moira K O'Bryan, Brett J Clark, Eileen A McLaughlin, Rebecca J D'Sylva, Liza O'Donnell, Jacqueline A Wilce, Jessie Sutherland, Anne E O'Connor, Belinda Whittle, Christopher C Goodnow, Christopher J Ormandy, Duangporn Jamsai   +11 more
doaj   +1 more source

Changes in intranuclear mobility of mature snRNPs provide a mechanism for splicing defects in spinal muscular atrophy [PDF]

, 2012
This work was funded by the Wellcome Trust (grant ID WT078810MA)It is becoming increasingly clear that defects in RNA metabolism can lead to disease. Spinal muscular atrophy (SMA), a leading genetic cause of infant mortality, results from insufficient ...
Clelland, Allyson Kara, Bales, Alexandra Beatrice Elizabeth, Sleeman, Judith Elizabeth   +2 more
core   +1 more source