Results 131 to 140 of about 4,057 (205)

Atypical X-linked agammaglobulinemia diagnosed in adulthood with arthritis caused by a hypomorphic BTK splice-site variant: a case report and literature review. [PDF]

Front Immunol
Takayama A, Meguro K, Yokota M, Sugiyama T, Kurihara S, Hiraguri M, Kanegane H, Nakajima H.   +7 more
europepmc   +1 more source

Transcriptome assemblies for two drug-type cannabis chemotypes by long-read RNA sequencing. [PDF]

Plant Genome
Berkowitz O, Jost R, Ng S, Bacic A, Whelan J, Lewsey MG.   +5 more
europepmc   +1 more source

EIF1 coordinates transcriptomic and splicing networks associated with cell cycle dysregulation in diabetic retinopathy. [PDF]

PLoS One
Li N, Ma Q, Fan X, Liu Q, Liu L, Zhang S, Ma Y, Xu H, Li X.   +8 more
europepmc   +1 more source

The human branchpoint-interacting stem-loop sequence and structure regulates U2 snRNA expression, branchpoint recognition, and the transcriptome. [PDF]

Nucleic Acids Res
Stevers MB, Katzman S, Jurica MS.
europepmc   +1 more source

IRCAS: a novel end-to-end approach to identify, rectify, and classify comprehensive alternative splicing events in a transcriptome without genome reference. [PDF]

Brief Bioinform
Shen C, Zhang Q, Cao Q, Liu X, Zhang Z, Li B, Jin Z, Zhang R.   +7 more
europepmc   +1 more source

Targeted long-read RNA sequencing for rare disease diagnosis and variant interpretation. [PDF]

Sci Adv
Wang R, Wang F, DeBruyne N, Ji X, Engelhardt NM, Park JJ, Notaro A, Gaerlan S, Park R, Schultz MJ, Clever S, McCormick EM, Keith K, Ng BG, Kadash-Edmondson KE, Freeze HH, Lam CT, Morava E, Helbig I, Falk MJ, Ganetzky RD, Edmondson AC, Lin L, Xing Y.   +23 more
europepmc   +1 more source

Identification of alternative splicing in WFS1 associated with low-frequency hearing loss in the common marmoset. [PDF]

HGG Adv
Yokota S, Yoshimura H, Nishio SY, Sasaki E, Mukasa K, Usami SI, Takumi Y.   +6 more
europepmc   +1 more source

Correction of aberrant splicing caused by intronic CAPN3 pathogenic variants using RNA-targeted therapeutic strategies in limb-girdle muscular dystrophy type R1. [PDF]

Orphanet J Rare Dis
Li G, Guo Y, Wang G, Liu H, Lv X, Lin P.
europepmc   +1 more source

Gene expression profiles identify key factors in inflammatory odontoblastic dental pulp stem cell differentiation via TNFα/C5L2. [PDF]

Front Genet
Irfan M, Kim JH, Sreekumar S, Chung S.
europepmc   +1 more source

Comprehensive assessment of alternative splicing analysis methods for single-cell RNA-seq. [PDF]

iScience
Jiang Q, Li G, Xing L, Zhang D, Sun J.
europepmc   +1 more source