Results 91 to 100 of about 3,449 (171)

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

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

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

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

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

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

Mis-spliced FMR1 transcripts in human fragile X syndrome neural progenitors and neurons. [PDF]

J Neurodev Disord
Hourani SM, Utami KH, Oh SL, Castrén ML, Pouladi MA.   +4 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

Exploring the clinical and genetic spectrum of Steel syndrome: two case reports and review of the literature. [PDF]

Front Med (Lausanne)
Gorodilova D, Kenis V, Rustamov K, Akimova D, Skoblov M, Merkuryeva E, Morgul A, Grigorieva A, Andreeva L, Zabnenkova V, Bulakh M, Chistol D, Raimkhodjaeva N, Lavrov A, Hegay T, Aripova T, Kutsev S, Markova T.   +17 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