Results 31 to 40 of about 143,230 (264)

3′ Splice Site Sequences of Spinal Muscular Atrophy Related SMN2 Pre-mRNA Include Enhancers for Nearby Exons

The Scientific World Journal, 2014
Spinal muscular atrophy (SMA) is a human genetic disease which occurs because of the deletion or mutation of SMN1 gene. SMN1 gene encodes the SMN protein which plays a key role in spliceosome assembly. Although human patients contain SMN2, a duplicate of
Sunghee Cho, Heegyum Moon, Tiing Jen Loh, Hyun Kyung Oh, Hey-Ran Kim, Myung-Geun Shin, D. Joshua Liao, Jianhua Zhou, Xuexiu Zheng, Haihong Shen   +9 more
doaj   +1 more source

Effect of 5′ Splice Site Mutations on Splicing of the Preceding Intron [PDF]

Molecular and Cellular Biology, 1990
Three exon constructs containing identical intron and exon sequences were mutated at the 5' splice site beginning intron 2 and assayed for the effect of the mutation on splicing of the upstream intron in vitro. Alteration of two or six bases within the 5' splice site reduced removal of intron 1 at least 20-fold, as determined by quantitation of either ...
M, Talerico, S M, Berget
openaire   +2 more sources

Modeling splice sites with Bayes networks [PDF]

Bioinformatics, 2000
Abstract Motivation: The main goal in this paper is to develop accurate probabilistic models for important functional regions in DNA sequences (e.g. splice junctions that signal the beginning and end of transcription in human DNA). These methods can subsequently be utilized to improve the performance of gene-finding systems.
Deyou Cai, Arthur L. Delcher, Ben Kao, Simon Kasif   +3 more
openaire   +2 more sources

RNA splicing: a split consensus reveals two major 5′ splice site classes

Open Biology
The established consensus sequence for human 5′ splice sites masks the presence of two major splice site classes defined by preferential base-pairing potentials with either U5 snRNA loop 1 or the U6 snRNA ACAGA box.
Matthew T. Parker, Sebastian M. Fica, Gordon G. Simpson   +2 more
doaj   +1 more source

In silico prioritization and further functional characterization of SPINK1 intronic variants

Human Genomics, 2017
Background SPINK1 (serine protease inhibitor, kazal-type, 1), which encodes human pancreatic secretory trypsin inhibitor, is one of the most extensively studied genes underlying chronic pancreatitis.
Wen-Bin Zou, Hao Wu, Arnaud Boulling, David N. Cooper, Zhao-Shen Li, Zhuan Liao, Jian-Min Chen, Claude Férec   +7 more
doaj   +1 more source

Comparison of In Silico Tools for Splice-Altering Variant Prediction Using Established Spliceogenic Variants: An End-User’s Point of View

International Journal of Genomics, 2022
Assessing the impact of variants of unknown significance on splicing has become a critical issue and a bottleneck, especially with the widespread implementation of whole-genome or exome sequencing.
Woori Jang, Joonhong Park, Hyojin Chae, Myungshin Kim   +3 more
doaj   +1 more source

Change in Mental Health and Resilience in Childhood Cancer Survivors After Attending a Person‐Centred State‐of‐the‐Art Late Effects Clinic—on Behalf of the PanCareFollowUp Consortium

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Person‐centred follow‐up care based on evidence‐based clinical practice guidelines and providing individualised information should help to inform and reassure survivors about their medical and psychosocial situation and provide treatment and support where needed.
Gisela Michel, Mieke Rijken, Marietta Kokla, Charlotte Sleurs, Jurgen Lemiere, Line Elmerdahl Frederiksen, Luzius Mader, Cecilia Follin, Sara Oberti, Jeanette Falck Winther, Selina R. van den Oever, Leontien C. M. Kremer, Helena J. H. van der Pal, Peter Spreeuwenberg, Eline Bouwman, Jeroen te Dorsthorst, Samira Essiaf, Elizabeth A. M. (Lieke) Feijen, Hannah Gsell, Riccardo Haupt, Maria van Helvoirt, Rosella P. M. G. Hermens, Lars Hjorth, Tomas Kepak, Katerina Kepakova, Anita Kienesberger, Monica Muraca, Marleen Renard, Carina Schneider, Roderick Skinner, Anne Uyttebroeck, Deveny Vanrusselt, Sabine Verschueren, Jacqueline Loonen, Saskia M. F. Pluijm, Katharina Roser, the PanCareFollowUp consortium   +36 more
wiley   +1 more source

A rare non-canonical splice site in Trema orientalis SYMRK does not affect its dual symbiotic functioning in endomycorrhiza and rhizobium nodulation

BMC Plant Biology, 2023
Background Nitrogen-fixing nodules occur in ten related taxonomic lineages interspersed with lineages of non-nodulating plant species. Nodules result from an endosymbiosis between plants and diazotrophic bacteria; rhizobia in the case of legumes and ...
Sultan Alhusayni, Yuda Purwana Roswanjaya, Luuk Rutten, Rik Huisman, Simon Bertram, Trupti Sharma, Michael Schon, Wouter Kohlen, Joël Klein, Rene Geurts   +9 more
doaj   +1 more source

Protein pyrophosphorylation by inositol pyrophosphates — detection, function, and regulation

FEBS Letters, EarlyView.
Protein pyrophosphorylation is an unusual signaling mechanism that was discovered two decades ago. It can be driven by inositol pyrophosphate messengers and influences various cellular processes. Herein, we summarize the research progress and challenges of this field, covering pathways found to be regulated by this posttranslational modification as ...
Sarah Lampe, Tanmay Kumar Mohanty, Rashna Bhandari, Dorothea Fiedler   +3 more
wiley   +1 more source

Synergistic assembly of human pre-spliceosomes across introns and exons

eLife, 2018
Most human genes contain multiple introns, necessitating mechanisms to effectively define exons and ensure their proper connection by spliceosomes. Human spliceosome assembly involves both cross-intron and cross-exon interactions, but how these work ...
Joerg E Braun, Larry J Friedman, Jeff Gelles, Melissa J Moore   +3 more
doaj   +1 more source