Results 121 to 130 of about 2,519,227 (189)

Analysis of diagnostic pitfalls in 125 genetically confirmed cases of distal myopathies. [PDF]

J Neuromuscul Dis
Subbotin D, Borovikov A, Kuchina A, Sharkova I, Vlasenko A, Rudenskaya G, Nikitin S, Gilvanova O, Degterev D, Druzhinin D, Druzhinina E, Grishina D, Dadali E, Marakhonov A, Chausova P, Fomenko S, Ryzhkova O, Shchagina O, Kutsev S, Murtazina A.   +19 more
europepmc   +1 more source

Impaired Myogenic Differentiation Is a Shared Feature Across Genetic Myopathies. [PDF]

Int J Mol Sci
Soule TGB, Slavin MB, Pontifex CS, Dabaja MZ, Melnyk A, Dufour A, Dumont NA, Shutt TE, Pfeffer G.   +8 more
europepmc   +1 more source

Mechanistic role of GNE-987 targeting BRD4-HCP5 axis in pediatric T-cell acute lymphoblastic leukemia. [PDF]

J Cell Commun Signal
Sang X, Jiang M, Guan Y, Chen X, Zhang Z, Wu Y, Peng W.   +6 more
europepmc   +1 more source

A human iPSC-derived sensory neuron platform for high-throughput discovery of neuroprotectants against chemotherapy-induced peripheral neuropathy. [PDF]

Cell Rep Med
Petrova V, Mills CE, Hug C, Cetinkaya-Fisgin A, Splaine J, Fouladzadeh S, Hakim S, Powell R, Zhen S, Chung M, Bradshaw GA, Deng T, Singec I, Wang Q, Kawaguchi R, Jonnagaddala H, Barrett LB, Smith JA, Kalocsay M, Gyori BM, Hoke A, Sorger PK, Woolf CJ.   +22 more
europepmc   +1 more source

From Bench to Clinic: Developing Pre-Clinical Resources, Assays, and Therapeutics for GNE Myopathy

GNE myopathy (GNE-M) is a rare, autosomal recessive disease, leading to progressive skeletal muscle atrophy and weakness in the limbs. Myopathy occurs due to pathogenic mutations in the GNE gene, resulting in reduced enzymatic activity of the GNE protein,
Koczwara, Katherine
core  

Suppression of AKT Activation Through LZK Inhibition Limits Tumor Growth in Esophageal and Head and Neck Cancers. [PDF]

Mol Cancer Ther
Katerji M, Rubin MR, Lindberg E, Torres-Ayuso P, Siddiqui A, Funk AL, Nyswaner K, Woodroofe CC, Wolfe S, Edwards ZC, Trotter EW, Baloglu E, Ahel I, Marusiak AA, Newton A, Cachau RE, Arnold K, Swenson RE, Brognard J.   +18 more
europepmc   +1 more source

<i>Gne</i> deletion in adult mice can cause thrombocytopenia, anemia, myopathy, bleeding, and death. [PDF]

J Neuromuscul Dis
Lam P, Zygmunt DA, Bennett M, Ashbrook A, Hefty J, Martin PT.   +5 more
europepmc   +1 more source

Biosynthetic and genetic pathways related to sialic acid metabolism. [PDF]

J Biol Chem
Huang S, van de Ven EGP, Tee T, Lefeber DJ.   +3 more
europepmc   +1 more source

A causal reinforcement learning framework for reliable gene regulatory network inference. [PDF]

BMC Bioinformatics
Ji R, Zhang W, Geng Y, Song A, Zhou Y.
europepmc   +1 more source

Distal Myopathy and Kyphoscoliosis Associated with a Kyphoscoliosis Peptidase Gene Mutation: A Rare Case. [PDF]

Ann Indian Acad Neurol
Yeşildaş PY, Özenç B.
europepmc   +1 more source