Results 101 to 110 of about 1,898 (155)

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

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

S-Doped Carbon Dot Treatment Alters RNA Processing, Translation, and Protein Degradation Pathways in HeLa Cells. [PDF]

Curr Issues Mol Biol
Davalieva K, Ralić V, Bozhinovski G, Gemović B, Nešić MD, Korićanac L, Dučić T, Algarra M, Popović IA, Stepić M, Petković M.   +10 more
europepmc   +1 more source

Dual diagnosis of achondroplasia and mandibulofacial dysostosis with microcephaly. [PDF]

BMC Med Genomics
Lyulcheva-Bennett E, Kershaw C, Baker E, Gillies S, McCarthy E, Higgs J, Canham N, Hennigan D, Parks C, Bennett D.   +9 more
europepmc   +1 more source

Overlapping peri-implantation phenotypes of ZNHIT1 and ZNHIT2 despite distinct functions during early mouse development†. [PDF]

Biol Reprod
He XD, Taylor LF, Miao X, Shi Y, Lin X, Yang Z, Liu X, Miao YL, Alfandari D, Cui W, Tremblay KD, Mager J.   +11 more
europepmc   +1 more source

KDM3A and KDM3B regulate alternative splicing in mouse pluripotent stem cells. [PDF]

iScience
Dillingham CM, Cormaty H, Morgan EC, Tak AI, Esgdaille DE, Boutz PL, Sridharan R.   +6 more
europepmc   +1 more source

[Inhibitory effect of small-molecule compound AM679 targeting elongation-factor binding protein 2 on hepatitis B virus in vitro]. [PDF]

Zhonghua Gan Zang Bing Za Zhi
Fang HJ, Cai JY, Hou XX, Song JL, Peng LY, Zhu CL.   +5 more
europepmc   +1 more source

Microinflammation-Driven Gene Expression Dynamics in the Pathogenesis of Metabolic Disorders and Cancer. [PDF]

Biology (Basel)
Cadungog MEGT, Tayo LL.
europepmc   +1 more source

Response splicing quantitative trait loci in primary human chondrocytes identify putative osteoarthritis risk genes. [PDF]

Nat Commun
Byun S, Shine J, Coryell P, Kramer NE, D'Costa S, Thulson E, Parkus SM, Chubinskaya S, Loeser RF, Diekman BO, Phanstiel DH.   +10 more
europepmc   +1 more source

A common cellular response to broad splicing perturbations is characterized by metabolic transcript downregulation driven by the Mdm2-p53 axis. [PDF]

Dis Model Mech
Varineau JE, Calo E.
europepmc   +1 more source