Results 111 to 120 of about 4,405 (166)

Functional sQTLs regulating PTK2B exon 31 splicing uncover an RNA-dependent modulation of its kinase activity and cellular phenotype. [PDF]

Cell Commun Signal
Kato M, Isazawa A, Ohki A, Fujita A, Araki M, Yanaizu M, Kino Y.   +6 more
europepmc   +1 more source

HnRNP C binding to inverted <i>Alu</i> elements protects the transcriptome from pre-mRNA circularization. [PDF]

Sci Adv
Marini A, Pitolli C, Ciccone S, Pieraccioli M, Robil N, Naro C, Palluzzi F, Giansanti M, Tamburrini G, Giacò L, de la Grange P, Nazio F, Bielli P, Sette C, Pagliarini V.   +14 more
europepmc   +1 more source

Regulation of Tau Alternative Splicing: A Novel Role for the Ribonucleoprotein RBM20. [PDF]

Int J Mol Sci
Corsi A, Valentino A, Bruno MG, Menichetti G, Belpinati F, Pereira MP, Valenti MT, Ruggiero A, Trabetti E, Bombieri C, Romanelli MG.   +10 more
europepmc   +1 more source

A novel EVC2 splice-site variant expands the mutational and phenotypic spectrum of Weyers acrofacial dysostosis. [PDF]

BMC Med Genomics
Chen A, Zhang W, Long P, Chen X, Zhang A, Zhu H, Zeng L, Xiong F, Wang J, Zhu S, Zhou P.   +10 more
europepmc   +1 more source

Pathogenic Analysis of Two <i>SLC22A5</i> Variants That Alter RNA Splicing in Patients with Primary Carnitine Deficiency. [PDF]

Int J Neonatal Screen
Lin Y, Chen Y, Lin W, Zheng F.
europepmc   +1 more source

An in vivo parallelized reporter assay to uncover tissue-specific splicing regulatory sequences in a multicellular animal. [PDF]

Nucleic Acids Res
Bhatnagar S, Ho J, Sadek NH, Singh I, Zoberman M, Koterniak B, Liu Y, Fusca DD, Cutter AD, Moses AM, Calarco JA.   +10 more
europepmc   +1 more source

A novel androgen receptor gene splice site mutation induces aberrant mRNA splicing and internal in-frame deletion in androgen insensitivity syndrome. [PDF]

BMC Med Genomics
Liao B, Shuai M, Xiao L, Huang G, He Y, Wang YL, Wang H, He S.   +7 more
europepmc   +1 more source

Whole-genome sequencing identified a deep intronic COL4A5 variant causing aberrant splicing in a female patient with X-linked Alport syndrome. [PDF]

CEN Case Rep
Nagano C, Aoyama S, Kimura Y, Inoki Y, Sakakibara N, Horinouchi T, Yamamura T, Ishimori S, Nozu K.   +8 more
europepmc   +1 more source

A missense variant in Exon 9 of the <i>ASNS</i> gene causes splicing abnormality in an Infant with asparagine synthetase deficiency. [PDF]

Front Genet
Zhang W, Chen F, Wang Z, Ding H, Zhang Y, Zeng L.   +5 more
europepmc   +1 more source

A novel JK-null allele due to splicing variant. [PDF]

Transfusion
Tournamille C, Fichou Y, Benech C, Muralitharan V, Levy C, Heng E, Bouly N, Floch A.   +7 more
europepmc   +1 more source