Results 151 to 160 of about 9,025 (227)

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

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

Unveiling alternative splicing dynamics in activated T lymphocytes and their implications for immune checkpoint blockade efficacy. [PDF]

iScience
Zisman E, Stern O, Lewis R, Tzaban S, Eisenhaure T, Henrickson SE, Sade-Feldman M, Silberman-Klein S, Eisenberg G, Hacohen N, Yizhak K, Lotem M.   +11 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

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

Alternative Splicing Analysis Reveals Adrenergic Signaling as a Novel Target for Protein Arginine Methyltransferase 5 (PRMT5) in the Heart. [PDF]

Int J Mol Sci
Jiao S, Zhang Y, Yang X, Wang J, Li Z.
europepmc   +1 more source

Aberrant skeletal muscle morphogenesis and myofiber differentiation characterize equine myotonic dystrophy. [PDF]

PLoS One
Valberg SJ, Williams ZJ, Ames EG, Mickelson JR, Nout-Lomas YS, Landolt G, Sanz M, Gardner K.   +7 more
europepmc   +1 more source

Clinical applications of and molecular insights from RNA sequencing in a rare disease cohort. [PDF]

Genome Med
Stark JC, Pipko N, Liang Y, Szuto A, Tsoi CT, Dickson MA, Yuki KE, Hou H, Scholten S, Pulsifer K, Acker M, Laver M, Murthy H, Moran OM, Bonnell E, Liang N, Sidhu J, Dupuis L, Seno MMG, Care4Rare Canada Consortium, Chard M, Jobling RK, Cameron J, Chami R, Inbar-Feigenberg M, Wilson MD, Chitayat DA, Boycott KM, Kyriakopoulou L, Mendoza-Londono R, Marshall CR, Dowling JJ, Costain G, Deshwar AR.   +33 more
europepmc   +1 more source

Uplift of genetic diagnosis of rare respiratory disease using airway epithelium transcriptome analysis. [PDF]

Hum Mol Genet
Legebeke J, Wheway G, Baker L, Wai HA, Walker WT, Thomas NS, Coles J, Jackson CL, Holloway JW, Lucas JS, Baralle D.   +10 more
europepmc   +1 more source

Nanopore Sequencing Reveals Novel Alternative Splice Variants of EZH2 in Pediatric Medulloblastoma. [PDF]

Biomedicines
Ramírez-Chiquito JC, Rosete-Ambriz SA, Olguín-García AC, Eguía-Aguilar MDP, Niembro-Zuñiga AM, Marhx-Bracho A, Perezpeña-Diazconti M, Juárez-Méndez S.   +7 more
europepmc   +1 more source