Results 121 to 130 of about 2,993 (188)

Lipid alterations in hereditary peripheral neuropathies: common mechanisms in disease heterogeneity? [PDF]

Mol Neurodegener
Kuipers K, Vanherle S, Poelmans K, Wolfs E, Bogie J, Vangansewinkel T.   +5 more
europepmc   +1 more source

MTMR14 depletion aggravates intrapulmonary inflammation and emphysema in experimental COPD through activating macrophage M1 polarization. [PDF]

Respir Res
Zhang J, Zhan Y, Deng Z, Chen S, Yang R, Zhang Y, Fu H, Huang Q, Wu J, Gu Y, Xie J.   +10 more
europepmc   +1 more source

Prognostic Value of Genotype-Phenotype Correlations in X-Linked Myotubular Myopathy and the Use of the Face2Gene Application as an Effective Non-Invasive Diagnostic Tool. [PDF]

Genes (Basel), 2023
Kušíková K, Šoltýsová A, Ficek A, Feichtinger RG, Mayr JA, Škopková M, Gašperíková D, Kolníková M, Ornig K, Kalev O, Weis S, Weis D.   +11 more
europepmc   +1 more source

A case report of X-linked centronuclear myopathy in a neonate: clinical presentation, therapeutic process, and genetic insights. [PDF]

Front Pediatr
Liao H, Jiang M, Zhong X, Luo X, Qiu H, Pan H, Gan J, Zhong S.   +7 more
europepmc   +1 more source

Phosphosite-specific co-regulation networks of MELK kinase: insights from integrative global phosphoproteomes. [PDF]

J Genet Eng Biotechnol
Khan NA, Fahma A, Mahin A, Gopalakrishnan AP, Shivamurthy PB, Ummar S, Rajeev AC, Raju R.   +7 more
europepmc   +1 more source

DNM2 lipid binding drives centronuclear myopathy and represents a potential therapeutic target. [PDF]

JCI Insight
Gómez-Oca R, Massana-Muñoz X, Reiss D, De Carvalho Neves J, Diedhiou N, Silva-Rojas R, Cowling BS, Goret M, Laporte J.   +8 more
europepmc   +1 more source

A three-gene radioresistance signature predicts tumor progression in cervical cancer. [PDF]

Transl Cancer Res
Yu H, Xiu Y, Meng F, He H, Wang Y, Liu T, Wang Z, Wang Z, Zhao K, Wang Y, Chen Z, Sun B.   +11 more
europepmc   +1 more source

The <i>MTMR11</i> variants identified in a short stature cohort compromise the dephosphorylation ability of <i>MTM1</i> on SMAD5 to up-regulate BMP signaling. [PDF]

Genes Dis
Yang K, Li H, Peng R, Wu B, Shen Y, Zhao T, Li C, Wang W, Wang H.   +8 more
europepmc   +1 more source

Association of MTMR3 rs12537 at miR-181a Binding Site with Ischemic Stroke in Southern Chinese Han Population. [PDF]

Int J Gen Med
Chen L, Wei S, Zhang Y, Li Y, Li Z, Huang P, Xiao C, Zhang Y.   +7 more
europepmc   +1 more source

PI3KC2β depletion rescues endosomal trafficking defects in Mtm1 knockout skeletal muscle cells. [PDF]

J Lipid Res
Mansat M, Kpotor AO, Mazars A, Chicanne G, Payrastre B, Viaud J.   +5 more
europepmc   +1 more source