Results 151 to 160 of about 2,733 (194)

CLCN5 inhibits tumorigenesis and fatty acid accumulation in clear cell renal cell carcinoma by regulating Enoyl CoA hydratase and 3-Hydroxyacyl CoA dehydrogenase. [PDF]

Int J Med Sci
Yu T, Li W, Meng X, Yang W, Ruan H, Xiao W, Zhang X.   +6 more
europepmc   +1 more source

Myotonic Dystrophy type 2 unmasked by physical activity resumption following COVID-19 lockdown: case discussion and review of the literature. [PDF]

Acta Myol
Lucchiari S, Magri F, Rimoldi M, Pagliarani S, Corti S, Comi GP, Sciacco M.   +6 more
europepmc   +1 more source

Real-world evaluation of gnomAD variant co-occurrence information for haplotype phasing in autosomal recessive disorders. [PDF]

Hum Genomics
Kim J, Kim GH, Min S, Seol CA, Seo EJ.
europepmc   +1 more source

Novel insights into neuropathy: The impact of prolonged hyperglycemia on long non-coding RNA expression. [PDF]

PLoS One
Zglejc-Waszak K, Jastrzebski JP, Wojtkiewicz J, Pidsudko Z, Juranek JK.   +4 more
europepmc   +1 more source

Enhanced muscle uptake of chemically optimized miR-23b antisense oligonucleotides as lead compounds for myotonic dystrophy type 1. [PDF]

Am J Hum Genet
González-Martínez I, Cerro-Herreros E, Carrascosa-Sàez M, García-Rey A, Piqueras-Losilla D, Colom-Rodrigo A, Moreno N, Chakraborty M, Huguet-Lachon A, González-Barriga A, Naldaiz-Gastesi N, Dehesa M, Díaz-Maqueda A, Barquero N, Varela MA, López de Munain A, Eritja R, Gourdon G, López-Castel A, Pérez-Alonso M, Llamusi B, Artero R.   +21 more
europepmc   +1 more source

In Silico Analysis: Molecular Characterization and Evolutionary Study of CLCN Gene Family in Buffalo. [PDF]

Genes (Basel)
Fu Y, Khan MF, Wang Y, Parveen S, Sultana M, Liu Q, Shafique L.   +6 more
europepmc   +1 more source

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Myotonia congenita: Novel mutations in CLCN1 gene and functional characterizations in Italian patients

Journal of the Neurological Sciences, 2012
Myotonia congenita is an autosomal dominantly or recessively inherited muscle disorder causing impaired muscle relaxation and variable degrees of permanent muscle weakness, abnormal currents linked to the chloride channel gene (CLCN1) encoding the chloride channel on skeletal muscle membrane.
G. Ulzi, M. Lecchi, V. Sansone, E. Redaelli, E. Corti, D. Saccomanno, S. Pagliarani, S.P. Corti, F.M.B. Magri, M. Raimondi, G. D'Angelo, A. Modoni, N. Bresolin, G. Meola, E. Wanke, G.P. Comi, S. Lucchiari   +16 more
openaire   +5 more sources

In vitro analysis of splice site mutations in the CLCN1 gene using the minigene assay

Molecular Biology Reports, 2014
Mutations in the chloride channel gene CLCN1 cause the allelic disorders Thomsen (dominant) and Becker (recessive) myotonia congenita (MC). The encoded protein, ClC-1, is the primary channel that mediates chloride (Cl-) conductance in skeletal muscle.
G. Ulzi, V.A. Sansone, F. Magri, S. Corti, N. Bresolin, G.P. Comi, S. Lucchiari   +6 more
openaire   +4 more sources

Functional consequences of chloride channel gene ( CLCN1) mutations causing myotonia congenita

Neurology, 2000
To determine the functional consequences of missense mutations within the skeletal muscle chloride channel gene CLCN1 that cause myotonia congenita.Myotonia congenita is a genetic muscle disease associated with abnormalities in the skeletal muscle voltage-gated chloride (ClC-1) channel.
J, Zhang, S, Bendahhou, M C, Sanguinetti, L J, Ptácek   +3 more
openaire   +2 more sources