Results 141 to 150 of about 2,672 (202)

CARE-compliant case report: Nemaline myopathy caused by the ACTA1 p.Q139H missense mutation. [PDF]

Medicine (Baltimore)
Pei X, Zhai Y, Yang F, Lu W.
europepmc   +1 more source

Congenital myopathies: pathophysiological mechanisms and promising therapies. [PDF]

J Transl Med
Zhang H, Chang M, Chen D, Yang J, Zhang Y, Sun J, Yao X, Sun H, Gu X, Li M, Shen Y, Dai B.   +11 more
europepmc   +1 more source

N-palmitoyl glycine mediates depression-associated atrial fibrillation via Man1a2-dependent autophagy and NRAP dysregulation. [PDF]

Europace
Chen J, Sheng S, Zhang J, Li Y, Jiang T, Jiang X, Li J, Lv L, Wang Z, Wei Y, Fang N, Zhang S, Yao H, Dong Y, Xue Z, Dong Z, Liang Z.   +16 more
europepmc   +1 more source

High-density SNP-based linkage map construction and QTL analysis for growth-related traits in <i>Luciobarbus brachycephalus</i> using whole-genome resequencing data. [PDF]

Front Genet
Wang X, Gao D, Zhang G, Ge Y, Wang X.
europepmc   +1 more source

Multi-tissue spatial transcriptomics identified simultaneous responses to oxidative stress and apoptosis in parallel with tissue-specific reprogramming in modeled chronic kidney disease-mineral and bone disorder. [PDF]

JBMR Plus
Hibbard LM, Liu S, Marambio YG, Jennings KN, Welc SS, Wan J, White KE.   +6 more
europepmc   +1 more source

Differentially Expressed Genes in Cardiomyocytes of the First Camelized Mouse Model, Nrap^c.255ins78 Mouse. [PDF]

Genes (Basel)
Lee SY, Lim B, Lee BY, Jang G, Choi JS, Cui XS, Kim KS.   +6 more
europepmc   +1 more source

Faecal proteomics links neutrophil degranulation with mortality in patients with alcohol-associated hepatitis. [PDF]

Gut
Kreimeyer H, Gonzalez CG, Fondevila MF, Hsu CL, Hartmann P, Zhang X, Stärkel P, Bosques-Padilla F, Verna EC, Abraldes JG, Brown RS, Vargas V, Altamirano J, Caballería J, Shawcross DL, Louvet A, Lucey MR, Mathurin P, Mathurin P, Garcia-Tsao G, Bataller R, Investigators A, Gonzalez DJ, Schnabl B.   +23 more
europepmc   +1 more source

Differential inclusion of NEB exons 143 and 144 provides insight into NEB-related myopathy variant interpretation and disease manifestation. [PDF]

HGG Adv
Silverstein S, Orbach R, Syeda S, Foley AR, Gorokhova S, Meilleur KG, Leach ME, Uapinyoying P, Chao KR, Donkervoort S, Bönnemann CG.   +10 more
europepmc   +1 more source

Nemaline Myopathy With a Compound Heterozygous Mutation: A Case Report. [PDF]

Cureus
Chalipat S, Talewad S, Gupta A, Bahal M, Mane SV.   +4 more
europepmc   +1 more source

Nuclear envelope budding is a non-canonical mechanism to export large transcripts in muscle cells

Zaganelli S, Meehl JB, Abrisch RG, Voeltz GK.   +3 more
europepmc   +1 more source