A mutation in a splicing factor that causes retinitis pigmentosa has a transcriptome-wide effect on mRNA splicing [PDF]
, 2014 Background: Substantial progress has been made in the identification of sequence elements that control mRNA splicing and the genetic variants in these elements that alter mRNA splicing (referred to as splicing quantitative trait loci – sQTLs).
Ramesar, Raj +7 more
core +1 more source
A method of predicting changes in human gene splicing induced by genetic variants in context of cis-acting elements [PDF]
, 2010 Background: polymorphic variants and mutations disrupting canonical splicing isoforms are among the leading causes of human hereditary disorders. While there is a substantial evidence of aberrant splicing causing Mendelian diseases, the implication of ...
Churbanov, Alexander +8 more
core +1 more source
Splicing mutations in AMELX and ENAM cause amelogenesis imperfecta
BMC Oral Health, 2023 Background Amelogenesis imperfecta (AI) is a developmental enamel defect affecting the structure of enamel, esthetic appearance, and the tooth masticatory function. Gene mutations are reported to be relevant to AI.
Zhenwei Zhang +10 more
doaj +1 more source
Frontiers in Genetics, 2022 Conventionally, protein features affected by missense mutation was attributed to destroy an important domain with amino acid alternation, and it was difficult to clearly specify the pathogenicity of a novel missense mutation.
Kai Yan +9 more
doaj +1 more source
The novel MAPT mutation K298E:mechanisms of mutant tau toxicity, brain pathology and tau expression in induced fibroblast-derived neurons [PDF]
, 2013 Frontotemporal lobar degeneration (FTLD) is the one of the most frequent neurodegenerative disorders characterized by behavioral and executive impairment, language disorders and motor dysfunction.
Holton, Janice L. +27 more
core +1 more source
Cell Reports, 2019 Summary: A truncating mutation in the mouse Srrm4 gene, which encodes a neuronal splicing factor, causes alternative splicing defects selectively in the ear. The mechanism by which splicing is preserved in the brain of these mice is not known.
Yoko Nakano +2 more
doaj +1 more source
A splicing-dependent transcriptional checkpoint associated with prespliceosome formation [PDF]
, 2014 There is good evidence for functional interactions between splicing and transcription in eukaryotes, but how and why these processes are coupled remain unknown.
Chathoth, Keerthi T +3 more
core +1 more source
Somatic SF3B1 hotspot mutation in prolactinomas
Nature Communications, 2020 The genetic basis of prolactinomas remains poorly understood. Here, the authors find a recurrent hotspot somatic mutation in the splicing factor 3 subunit B1 (SF3B1 R625H ) in prolactinomas, and show that this mutation causes aberrant splicing of ESRRG ...
Chuzhong Li +24 more
doaj +1 more source
Mutations in the U5 snRNA result in altered splicing of subsets of pre-mRNAs and reduced stability of Prp8 [PDF]
, 2009 The U5 snRNA loop 1 aligns the 5' and 3' exons for ligation during the second step of pre-mRNA splicing. U5 is intimately associated with Prp8, which mediates pre-mRNA repositioning within the catalytic core of the spliceosome and interacts directly with
David Barrass, J. +5 more
core +1 more source
Alternative splicing and extensive RNA editing of human TPH2 transcripts. [PDF]
, 2010 Brain serotonin (5-HT) neurotransmission plays a key role in the regulation of mood and has been implicated in a variety of neuropsychiatric conditions. Tryptophan hydroxylase (TPH) is the rate-limiting enzyme in the biosynthesis of 5-HT.
Bondy, Brigitta +59 more
core +1 more source