Results 111 to 120 of about 6,757 (149)

Functional and structural characterization of <i>POR</i> splicing variants reveals pathogenic mechanisms in PORD. [PDF]

Front Endocrinol (Lausanne)
Zhang XJ, Zhou FY, Xu XW, Wang C, Qian Y, Gong CY, Sheng WC, Shu JB, Cai CQ, Zhang MY.   +9 more
europepmc   +1 more source

Resolving non‑coding splice‑altering variants using an integrative genomic and transcriptomic workflow: application to FOXP1. [PDF]

Hum Genomics
Planté-Bordeneuve P, Jourdain AS, Thuillier C, Caux A, Tessarech M, Meneboo JP, Ait-Yahya E, Costantini S, Brunelle P, Smol T.   +9 more
europepmc   +1 more source

Characterization of a Splice Variant in <i>FLNA</i> Associated With Periventricular Nodular Heterotopia. [PDF]

Neurol Genet
Zhang Y, Huang Y, Huang X, Gao H, Lin J, He X, Li P, Mei L.   +7 more
europepmc   +1 more source

Systematic functional evaluation of CNGA1 missense variants associated with retinitis pigmentosa. [PDF]

Mol Med
Reuter P, Schroeder J, Sturm M, Quinodoz M, Vaclavik V, Bauwens M, De Bruyne M, Leroy B, van Aerschot J, Stingl K, Kohl S.   +10 more
europepmc   +1 more source

SRSF3 determines T_reg cell fate in antitumor immunity and autoimmunity. [PDF]

Sci Adv
Jia R, Guo J, Yan L, Lin C, Jia J, Shao J, Zhang D, Liu N, Chen W.   +8 more
europepmc   +1 more source

c.98 + 3A>G and c.155 + 1G>T splice-site variants in the <i>ABO*B.01</i> allele lead to weak antigen expression in the Chinese individuals. [PDF]

Front Immunol
Zhang J, Ying Y, Hong X, Zhu F.
europepmc   +1 more source

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

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

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

Compound heterozygous CHAT gene mutations, a missense and a splice site variant, in two siblings with congenital myasthenic syndrome. [PDF]

Sci Rep
Kikuchi S, Wada N, Mariya T, Ishikawa A, Kihara M, Furukawa S, Kato H, Nishio Y, Ogi T, Ohsaki Y, Tachi N.   +10 more
europepmc   +1 more source