Results 151 to 160 of about 9,183 (205)

Transcriptomic analysis implicates the involvement of RBM20 in Fuchs' endothelial corneal dystrophy with TCF4 repeat expansion. [PDF]

PLoS One
Zhang X, Yu Z, Westfall AK, Han K, Mootha VV, Xing C.   +5 more
europepmc   +1 more source

Integrative analysis of Hub1 overexpression: driving transcriptional reprogramming and alternative splicing in Saccharomyces cerevisiae. [PDF]

BMC Genomics
Billah NMA, Khan U, Islam KMD, Abdul-Awal SM, Billah MM.   +4 more
europepmc   +1 more source

SF3B1-mutant models of RNA mis-splicing uncover UBA1 as a therapeutic target in myelodysplastic neoplasms. [PDF]

Leukemia
Thier J, Hofmann S, Kirchhof KM, Todisco G, Mortera-Blanco T, Lilienthal I, Kanellis DC, Barbosa I, Björklund AC, Deslauriers AG, Bartek J, Herold N, Papaemmanuil E, Papapetrou EP, Hellström-Lindberg E, Moura PL, Lundin V.   +16 more
europepmc   +1 more source

Unravelling alternative splicing patterns in susceptible and resistant Brassica napus lines in response to Xanthomonas campestris infection. [PDF]

BMC Plant Biol
Yang L, Yang L, Zhao C, Bai Z, Xie M, Liu J, Cui X, Bouwmeester K, Liu S.   +8 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

Unexpectedly high levels of normally spliced transcripts from the pathogenic SLC10A7 alleles in a recessive form of skeletal dysplasia. [PDF]

HGG Adv
Zhao XC, Zhang ZC, Ye WL, Ye YY, Wang LT, Zheng XQ, Chang YB, Chen C.   +7 more
europepmc   +1 more source

RNA Sequencing Addresses a 5' UTR Variant Leading to X-Linked Agammaglobulinemia and Broader Immune Dysregulation. [PDF]

J Clin Immunol
Xu K, Zhang B, Zhao S, Zhang Y, Wu N, Shen M, Zeng X.   +6 more
europepmc   +1 more source

Biallelic variants in the <i>UTRN</i> gene cause a novel form of multiple congenital arthrogryposis. [PDF]

Front Genet
Melnik E, Akimova D, Markova T, Tatarskiy E, Tvorogova A, Zabnenkova V, Kenis V, Agranovich O, Skoblov M, Dadali E.   +9 more
europepmc   +1 more source