Results 111 to 120 of about 2,519,227 (189)

Effects of a homozygous missense mutation in the <i>GNE</i> gene p.V543M on cell phenotype and its mechanisms. [PDF]

Zhong Nan Da Xue Xue Bao Yi Xue Ban
Wu R, Li H, Wu P, Yang Q, Wan X, Wu Y.
europepmc   +1 more source

GNE Myopathy: 25 Years After Gene Identification-Facts, Controversies, Enigmas, Prospects. [PDF]

J Clin Med
Mitrani-Rosenbaum S, Argov Z.
europepmc   +1 more source

Muscle imaging findings in GNE myopathy.

, 2012
GNE myopathy (MIM 600737) is an autosomal recessive muscle disease caused by mutations in the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene. Besides the typical phenotype, characterized by the initial involvement of the distal
Ottaviani P, Iannaccone E, Mirabella M, BARCA, EMANUELE, RODOLICO, Carmelo, Ricci E, Broccolini A., Monforte M, Laschena F, Silvestri G, Tasca G   +10 more
core  

Covalent pan-TEAD inhibitors block YAP activity and demonstrate brain penetrance in a Hippo-dependent cancer model. [PDF]

Nat Commun
Hagenbeek TJ, Zbieg J, Smith R, Paul S, Gerosa L, Torrini C, Guarnaccia AD, Ong C, Lacap JA, Ning M, Sodir NM, Hafner M, Tremblay J, Hawley J, Chan B, Verma VA, Beveridge RE, Hsu PL, Ulas G, Wang L, Nonomiya J, Chen S, Pham V, Webster J, Preston J, Hung J, Eastham J, Dunlap D, Lee W, Beroza P, Nayyar N, Martin S, Lin E, Weng J, Foster SA, Shanahan F, Fong R, Boenig G, Di Lello P, Kubala MH, Hunsaker T, Ravichandran M, Saenz-Lopez Larrocha P, Lau J, An L, Levy E, Lorenzo MN, Lill JR, Modrusan ZD, Chen YC, Yao X, Brastianos PK, Maddalo D, Dey A.   +53 more
europepmc   +1 more source

Integrated targeted whole-genome and RNA-sequencing analysis of an intronic GNE variant in GNE myopathy. [PDF]

Hum Genome Var
Toide N, Iwase R, Yanagidaira M, Togi S, Ura H, Egawa M, Takamine E, Kuwahara H, Misawa S, Yoshida M, Niida Y, Ishiguro T.   +11 more
europepmc   +1 more source

Modulating the sialic acid content of endothelial cells affects their adhesion and barrier permeability. [PDF]

Sci Rep
Müller PM, Weilepp L, Bork K, Horstkorte R, Gesper A.   +4 more
europepmc   +1 more source

Identification and Validation of Stable Loci Underlying Productivity-Related Traits in Common Wheat. [PDF]

Int J Mol Sci
Kiseleva AA, Leonova IN, Nesterov MA, Piskarev VV, Salina EA.   +4 more
europepmc   +1 more source

The Role of Autophagy in the Pathogenesis of Mitochondrial Diseases. [PDF]

Cells
Avdonina ED, Kutsev SI, Shestopalov AV.
europepmc   +1 more source

Promoter reinforcement supports transcriptional resilience in drug-resistant cancer. [PDF]

Nat Struct Mol Biol
Kameswaran V, Paul S, Le D, Guarnaccia AD, Hoover J, Chen LF, Hagenbeek TJ, Shi M, Zhao LY, Lund JM, Xavier-Magalhães A, Lau J, De Simone M, Liang Y, Hafner A, Dey A, Modrusan Z, Daniel B.   +17 more
europepmc   +1 more source

BRD4 regulation of PIM1 identifies a novel therapeutic vulnerability in acute megakaryoblastic leukemia. [PDF]

Cancer Cell Int
Guo A, Fang F, Xiao P, Cai L, Li G, Yang Y, Zhang Z, Tao Y, Gao L, Du Z, Yang Y, Zhang F, Wu Y, Wei Z, Zhang Y, Hu Y, Li Y, Hu S, Pan J, Li J, He H, Li Z.   +21 more
europepmc   +1 more source