Results 81 to 90 of about 6,735 (249)
Molecular Genetics & Genomic Medicine, 2021 Objective PE is a pregnancy‐specific syndrome that affects 3%–5% of pregnant women. It often presents as new‐onset hypertension and proteinuria during the third trimester.
Tao Zhang +11 more
doaj +1 more source
Cancer in Systemic Sclerosis: Clinical Associations and Prognostic Impact From the EUSTAR Registry
Arthritis &Rheumatology, EarlyView.Objective Cancer represents a major cause of death in systemic sclerosis (SSc). Established risk factors are limited to specific subsets, particularly early diffuse anti‐RNA polymerase III (POLR3)–positive disease, needing further exploration. Methods We performed a nested case‐control study within the European Scleroderma Trials and Research group ...
Antonio Tonutti +52 more
wiley +1 more source
Seminars in Cell & Developmental Biology, 2018 The U12-dependent (minor) spliceosome excises a rare group of introns that are characterized by a highly conserved 5' splice site and branch point sequence. Several new congenital or somatic diseases have recently been associated with mutations in components of the minor spliceosome.
Bhupendra, Verma +3 more
openaire +2 more sources
, 2012 Pre-mRNA splicing occurs in spliceosomes whose assembly and activation are critical for splice site selection and catalysis. The highly conserved NineTeen complex protein complex stabilizes various snRNA and protein interactions early in the spliceosome ...
Vijayraghavan, Usha +4 more
core +1 more source
Rapid Access to Photoswitchable RNA Binders: Fluorination Enhances Protein Rescue by Exon Inclusion
Chemistry – A European Journal, EarlyView.An adaptable approach, many light‐switchable RNA binders. We report a versatile strategy for rapidly synthesizing photoswitchable RNA binders. The ligands can target SMN2 pre‐mRNA, restoring the levels of the corresponding protein by exon‐inclusion rescue.
Lei Zhang +10 more
wiley +1 more source
The biological function and clinical significance of SF3B1 mutations in cancer
Biomarker Research, 2020 Spliceosome mutations have become the most interesting mutations detected in human cancer in recent years. The spliceosome, a large, dynamic multimegadalton small nuclear ribonucleoprotein composed of small nuclear RNAs associated with proteins, is ...
Zhixia Zhou +6 more
doaj +1 more source
Epilepsia, EarlyView.Abstract Objective A significant proportion of individuals with suspected genetic developmental and epileptic encephalopathies (DEEs) remain unsolved following whole genome sequencing (WGS). Here we describe biallelic RNU2‐2 variants causing a recently reported, severe, recessive DEE.
Olivia J. Henry +23 more
wiley +1 more source
Immunoprecipitation of spliceosomal RNAs by antisera to galectin-1 and galectin-3 [PDF]
, 2006 We have shown that galectin-1 and galectin-3 are functionally redundant splicing factors. Now we provide evidence that both galectins are directly associated with spliceosomes by analyzing RNAs and proteins of complexes immunoprecipitated by galectin ...
Weizhong Wang +3 more
core +1 more source
Advanced Genetics, Volume 6, Issue 1, March 2025.This study comprehensively evaluated the differential effect of clonal hematopoiesis (CH) mutations on the risk of various stroke subtypes and functional recovery. It shows that TET2 is associated with small vessel stroke possibly via a pro‐inflammatory pathway. Abstract Recent observational studies have found an association between Clonal Hematopoesis
Shuyang Lin, Yang E. Li, Yan Wang
wiley +1 more source
Identification of novel interacting partners of the pre-mRNA processing factor 31 [PDF]
, 2010 Mutations in PRPF31 (RP11 locus) cause autosomal dominant retinitis pigmentosa (adRP), an inherited disorder of the retina characterised by degeneration of rod photoreceptors. PRPF31 is ubiquitously expressed and encodes a splicing factor involved in the
Fiocco, F.
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