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UnknownMutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies.
Not available
S-EPMC378532 | biostudies-literature
TranscriptomicsDepleting cytosolic cysteine compromises the antioxidant capacity of the cytosol in Arabidopsis thaliana
Plant cells contain different O-acetylserine(thiol)lyase (OASTL) enzymes involved in Cys biosynthesis and located in different subcellular compartments. These enzymes are made up of a complex variety of isoforms resulting in different subcellular Cys pools. To unravel the contribution of cytosolic C...
ORGANISM(S): Arabidopsis thaliana 
2010-10-01 | E-GEOD-19245 | biostudies-arrayexpress
UnknownNew FKRP mutations causing congenital muscular dystrophy associated with mental retardation and central nervous system abnormalities. Identification of a founder mutation in Tunisian families.
Not available
S-EPMC2244647 | biostudies-literature
UnknownAutosomal dominant eccentric core disease caused by a heterozygous mutation in the MYH7 gene.
Not available
S-EPMC4173876 | biostudies-literature
UnknownAn integrated diagnosis strategy for congenital myopathies.
Not available
S-EPMC3691193 | biostudies-literature
UnknownMultilayer omics analysis reveals a non-classical retinoic acid signaling axis that regulates hematopoietic stem cell identity.
Not available
S-EPMC9093043 | biostudies-literature
UnknownConstitutive activation of the calcium sensor STIM1 causes tubular-aggregate myopathy.
Not available
S-EPMC3567276 | biostudies-literature
UnknownMutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss.
Not available
S-EPMC3276673 | biostudies-literature
UnknownRecessive mutations in the kinase ZAK cause a congenital myopathy with fibre type disproportion.
Not available
S-EPMC5226058 | biostudies-literature
UnknownThe clinical, histologic, and genotypic spectrum of SEPN1-related myopathy: A case series.
Not available
S-EPMC7713742 | biostudies-literature
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