Results 121 to 130 of about 1,172 (162)

From Genes to Proteins: The Indispensable Role of Proteogenomics in Advancing Clear Cell Renal Cell Carcinoma Research. [PDF]

Int J Mol Sci
Kasperczak F, Pawłowska-Kasperczak K, Szuścik A, Zysnarska M, Rajwa P, Yanagisawa T, Zattoni F, Kasperczak M.   +7 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

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

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

Biology (Basel)
Cadungog MEGT, Tayo LL.
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

Distinguishing syndromic and nonsyndromic cleft palate through analysis of protein-altering de novo variants in 818 trios. [PDF]

Am J Hum Genet
Robinson KR, Curtis SW, Paschall JE, Adeyemo WL, Beaty TH, Butali A, Buxó CJ, Cutler DJ, Epstein MP, Gowans LJJ, Hecht JT, Shaw GM, Uribe LM, Murray JC, Brand H, Weinberg SM, Marazita ML, Doheny KF, Leslie-Clarkson EJ.   +18 more
europepmc   +1 more source

2'-O-methylation-dependent installation of N²-methylguanosine in the U6 internal stem loop facilitates efficient spliceosome assembly. [PDF]

Nat Commun
Kleiber N, Petrosyan J, Greve M, Thomé CC, Dybkov O, Tay LLE, Welp LM, Hackert P, Touboul D, Stark H, Bohnsack MT, Urlaub H, Herzel L, Graille M, Höbartner C, Bohnsack KE.   +15 more
europepmc   +1 more source

Identification of a de novo missense variant in the BRI3BP gene in a Holstein calf with congenital cardiac malformation and carpus valgus. [PDF]

Anim Genet
He C, Grau-Roma L, Schmid R, Häfliger IM, Meylan M, Drögemüller C, Jacinto JGP.   +6 more
europepmc   +1 more source

Clinical applications of and molecular insights from RNA sequencing in a rare disease cohort. [PDF]

Genome Med
Stark JC, Pipko N, Liang Y, Szuto A, Tsoi CT, Dickson MA, Yuki KE, Hou H, Scholten S, Pulsifer K, Acker M, Laver M, Murthy H, Moran OM, Bonnell E, Liang N, Sidhu J, Dupuis L, Seno MMG, Care4Rare Canada Consortium, Chard M, Jobling RK, Cameron J, Chami R, Inbar-Feigenberg M, Wilson MD, Chitayat DA, Boycott KM, Kyriakopoulou L, Mendoza-Londono R, Marshall CR, Dowling JJ, Costain G, Deshwar AR.   +33 more
europepmc   +1 more source

An overview of vital functions of human ecdysoneless (ECD), a highly conserved protein. [PDF]

Biosci Rep
Liu K, Cao X, Ma P, Qin A, Zhao J.
europepmc   +1 more source