Results 141 to 150 of about 4,057 (205)

Targeted long-read cDNA sequencing reveals novel splice-altering pathogenic variants causing retinal dystrophies. [PDF]

HGG Adv
Capasso D, Zeuli R, Arno G, Kwint M, Timmermans R, Ruiz-Ceja KA, Karali M, Simonelli F, Signorini S, Valente EM, Cremers FPM, Banfi S, Roosing S, Panneman DM, de Bruijn SE.   +14 more
europepmc   +1 more source

Case Report: Dual pathogenic mechanism of a <i>PRKG2</i> missense variant underlies an attenuated phenotype of acromesomelic dysplasia. [PDF]

Front Genet
Akimova D, Markova T, Orlova M, Kenis V, Skoblov M.   +4 more
europepmc   +1 more source

Light-Dependent Temporal Reprogramming of Alternative Splicing Dynamics Under Salt Stress in Sweet Potato (<i>Ipomoea batatas</i> [L]. Lam). [PDF]

Plants (Basel)
Luo Y, Gao F, Luo H, Gao L, Wang Y, Wang M, Liu T, Li Y, Zhu G.   +8 more
europepmc   +1 more source

Case Report: Integrated genomic and immunological assays identify non-coding <i>CFB</i> variants in pneumococcal meningoencephalitis. [PDF]

Front Immunol
Barbieur J, D'haenens E, Jarayseh T, Hoste L, Smet J, Lambrecht S, Schiettecatte E, Schelstraete P, De Bruyne M, Haerynck F, Tavernier SJ.   +10 more
europepmc   +1 more source

Integrative RNA-seq and iRIP-seq analysis links SNRPA overexpression to transcriptomic and splicing alterations in hepatocellular carcinoma cells. [PDF]

Front Oncol
Chang Q, Wang Y, Xu J.
europepmc   +1 more source

Research in the field of dentistry by a medical doctorate awarded by the Taipei imperial University: The story of Dr. Tai-San Shih's doctoral research. [PDF]

J Dent Sci
Cheng FC, Chang YM, Wang LH, Chiang CP.
europepmc   +1 more source

Accurate profiling of single-cell alternative transcript start sites by correcting RNA degradation. [PDF]

Nat Commun
Xu Z, Zhou Z, Tang C, Zhang Y, Mao B, Zhang Y, Chen L, Zhang D, Song J, Zheng X, Liu D, Wang H, He Z, Chen T, Lin JW, Chen L.   +15 more
europepmc   +1 more source

Antibiotic Resistance and Characteristics of <i>Vibrio parahaemolyticus</i> Isolated from Seafood Distributed in South Korea from 2021 to 2022. [PDF]

Microorganisms
Lee J, Kim H, Kang H, Park Y, Joo I, Kim H.   +5 more
europepmc   +1 more source

Small molecule splicing modulators that disrupt O-GlcNAc homeostasis. [PDF]

Nat Commun
Cheng SS, Mody AC, Vetere A, Govindan A, Lee Y, Khost DE, Narayan R, Sackton TB, Conrad NK, Wagner BK, Woo CM.   +10 more
europepmc   +1 more source

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease. [PDF]

Ann Clin Transl Neurol
Liu Z, Duan X, Peymani F, Wang J, Bao C, Xu C, Zou Y, Zhang Z, Zhang Y, Li T, Pavlov M, Wang J, Song M, Song T, Han X, Sun M, Shen D, Duan R, Jiang H, Xu M, Prokisch H, Fang F.   +21 more
europepmc   +1 more source