Results 111 to 120 of about 2,969 (179)

Genetic alternative splicing regulation mapping of cartilage and synovium reveals tissue-specific mechanisms of joint-related traits. [PDF]

Nat Commun
Tian W, Hu SY, Dong SS, Wang C, Zhang JQ, Jiang F, Yang Z, Yang TL, Guo Y.   +8 more
europepmc   +1 more source

PDXK-Related Neuropathy: A Case With a Novel Splice-Altering Missense Variant and Literature Review. [PDF]

Mol Genet Genomic Med
Subbotin D, Akimova D, Dadali E, Mikhalchuk K, Borovikov A, Kadyshev V, Skoblov M, Murtazina A.   +7 more
europepmc   +1 more source

Refining the interpretation of variants of uncertain significance in hereditary cancer screening through integrated RNA sequencing. [PDF]

Genet Med Open
Sha Y, Ortiz JB, Bristow SL, Loranger K, Meng L, Zhao X, Xia F, Parmar S, ElNaggar AC, Xu W.   +9 more
europepmc   +1 more source

RNA-Seq of Cultured Peripheral Blood Lymphocytes Improves Identification of Cryptic Splicing Defects in Rare Disease Diagnostics. [PDF]

Hum Mutat
Ren J, Dai C, Meng F, Zhang P, Xie C, Xiao W, He W, Yuan S, Li X, Zhang Q, Tang W, Hu L, Chen Z, Lu G, Du J, Zeng S, Lin G.   +16 more
europepmc   +1 more source

Identification of a novel variant in <i>MLH1</i> intron causing aberrant splicing associated with Lynch syndrome. [PDF]

Gastroenterol Rep (Oxf)
Liu AX, Liu KH, Guo RY, Ying JM, Zou SM, Dong L.   +5 more
europepmc   +1 more source

CD19 exon 2 skipping is a potential prognostic correlate of anti-CD19 CAR-T therapy relapse. [PDF]

Front Mol Med
Dam SH, Moranzoni G, Høie MH, Modvig S, Wadt KAW, Als-Nielsen B, Schmiegelow K, Vitting-Seerup K, Barnkob MB, Olsen LR.   +9 more
europepmc   +1 more source

Assessing the diagnostic impact of blood transcriptome profiling in a pediatric cohort previously assessed by genome sequencing. [PDF]

NPJ Genom Med
Hou H, Yuki KE, Costain G, Szuto A, Barnes S, Ramani AK, Celik A, Braga M, Gloven-Brown M, Stavropoulos DJ, Bowdin S, Cohn RD, Mendoza-Londono R, Scherer SW, Brudno M, Marshall CR, Stephen Meyn M, Shlien A, Dowling JJ, Wilson MD, Kyriakopoulou L.   +20 more
europepmc   +1 more source

SNRPD2-mediated regulation of DDX39B splicing promotes endometrial cancer progression by suppressing the activation of CTSC cryptic exons. [PDF]

Cell Death Dis
Li Y, Chen Z, Liu Y, Gao Y, Pu Y, Gao Q, Gao F, Yang N, Li P.   +8 more
europepmc   +1 more source

Prevalence, Characterization and Genetic Diversity of Listeria monocytogenes in Ready-to-Eat Raw Salmon (Salmo salar) and Trout (Oncorhynchus mykiss) Products. [PDF]

Foods
Gong Y, Yao L, Qu M, Li F, Guo Y, Li N, Zhu W, Wang L, Wang P, Jiang Y.   +9 more
europepmc   +1 more source

Transcripts from the <i>src-1(cj293)</i> mutant can encode a SRC-1 molecule lacking the SH2 domain in <i>Caenorhabditis elegans</i>. [PDF]

MicroPubl Biol
Mahadik SS, Lundquist EA.
europepmc   +1 more source