Results 121 to 130 of about 1,902 (167)

Investigating the emerging role of spliceosomal variants in craniofacial developmental disorders [PDF]

, 2021
Wood, Katherine
core  

Emw1/TTC27 is a chaperone required for folding of the eukaryotic elongation factor 2. [PDF]

Cell Mol Life Sci
Yang M, Li R, Mikolajczak AI, Wright VA, Hassan M, Vaughan CK, Prescott TAK, Heritz JA, Mollapour M, Panaretou B.   +9 more
europepmc   +1 more source

Modeling craniofacial spliceosomopathies: a pathway toward deciphering disease mechanisms. [PDF]

Front Cell Dev Biol
Griffin C.
europepmc   +1 more source

Genetic characterization of pediatric B-cell acute lymphoblastic leukemia in Argentina uncovers molecular heterogeneity and novel variants. [PDF]

Front Pharmacol
Ruiz MS, Sosa E, Avendaño D, Gomez Mercado I, Lacreu ML, Riccheri C, Schuttenberg V, Aversa L, Vazquez E, Gueron G, Cotignola J.   +10 more
europepmc   +1 more source

Editorial: Exploring epigenetic mechanisms in cancer. [PDF]

Front Oncol
Sherif ZA, Ressom HW, Ogunwobi OO.
europepmc   +1 more source

Alternative splicing dynamics during gastrulation in mouse embryo. [PDF]

Sci Rep
Wang W, Zhang Y, Zhai Y, Yang W, Xing Y.
europepmc   +1 more source

Nanopore long-read sequencing for the critically ill facilitates ultrarapid diagnostics and urgent clinical decision making. [PDF]

Eur J Hum Genet
Smits DJ, Ferraro F, Drost M, van der Linde HC, de Graaf BM, van Bever Y, Brooks AS, Bardina L, Brüggenwirth HT, Debuy C, Donker Kaat L, van Dijk BT, van Engelen N, Geeven G, van de Graaf R, van Haaften-Visser DY, van Hasselt PM, Heijsman D, Hendriks YMC, Hitti-Malin RJ, Hoefsloot LH, Huijbregts G, IJspeert H, Lamballais S, Mijalkovic J, Mol MO, Nawawi D, Nederpelt N, Nibbeling EAR, Te Rijdt W, Schot R, van Slegtenhorst M, Sleutels F, Ulenkate ELM, Van Veghel-Plandsoen M, Verhagen JMA, Vos D, Wauters E, Wilke M, Sylva M, Barakat TS, van Ham TJ, Kleefstra T, Rots D, Verhoeven VJM.   +44 more
europepmc   +1 more source

Expanding the toolbox for studying the splicing mechanism: Development of semi-synthetic triterpene derivatives as novel small molecule inhibitors of pre-mRNA splicing [PDF]

, 2023
Eadsforth, Megan
core  

LncRNA DGUOK-AS1 Promotes Bladder Cancer Progression by Enhancing EFTUD2 Stability

Cancer Research and Treatment
Wenwei Ying, Dingliang Li, Ninghan Feng, Wei Wei   +3 more
openaire   +1 more source

Direct and indirect effects of spliceosome disruption compromise gene regulation by nonsense-mediated mRNA decay. [PDF]

RNA Biol
Embree CM, Paul D, Stephanou A, Singh G.
europepmc   +1 more source