Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome.
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Increased muscle stress-sensitivity induced by selenoprotein N inactivation in mouse: a mammalian model for SEPN1-related myopathyStac3 is a component of the excitation-contraction coupling machinery and mutated in Native American myopathyIdentification and characterization of selenoprotein K: an antioxidant in cardiomyocytesThe SBP2 and 15.5 kD/Snu13p proteins share the same RNA binding domain: identification of SBP2 amino acids important to SECIS RNA binding.A single homozygous point mutation in a 3'untranslated region motif of selenoprotein N mRNA causes SEPN1-related myopathyMutations 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 myopathiesThe human selenoproteome: recent insights into functions and regulationA dual-light reporter system to determine the efficiency of protein-protein interactions in mammalian cellsSelenoproteins in nervous system development and functionStructural Insights into the Catalytic Mechanism of Escherichia coli Selenophosphate SynthetaseStructure-function relations, physiological roles, and evolution of mammalian ER-resident selenoproteins.Selenoprotein N is required for ryanodine receptor calcium release channel activity in human and zebrafish muscleThe role of the selenoprotein S (SELS) gene -105G>A promoter polymorphism in inflammatory bowel disease and regulation of SELS gene expression in intestinal inflammationCongenital muscular dystrophies: a brief reviewSelenoprotein N deficiency in mice is associated with abnormal lung developmentIdentification of a signature motif for the eIF4a3-SECIS interactionSecisbp2 is essential for embryonic development and enhances selenoprotein expressionSatellite cell loss and impaired muscle regeneration in selenoprotein N deficiencyDiagnostic approach to the congenital muscular dystrophies.A musculoskeletal model of low grade connective tissue inflammation in patients with thyroid associated ophthalmopathy (TAO): the WOMED concept of lateral tension and its general implications in disease.Diverse splicing patterns of exonized Alu elements in human tissuesSelenoprotein N is dynamically expressed during mouse development and detected early in muscle precursors.Selenoproteins: molecular pathways and physiological roles.A mutation in the SEPN1 selenocysteine redefinition element (SRE) reduces selenocysteine incorporation and leads to SEPN1-related myopathyRegulation and function of selenoproteins in human diseaseAggresome-Autophagy Involvement in a Sarcopenic Patient with Rigid Spine Syndrome and a p.C150R Mutation in FHL1 GeneEfficient identification of novel mutations in patients with limb girdle muscular dystrophyTrends in selenium biochemistry.Mutations in the selenocysteine insertion sequence-binding protein 2 gene lead to a multisystem selenoprotein deficiency disorder in humans.Cloning of cDNA encoding a regeneration-associated muscle protease whose expression is attenuated in cell lines derived from Duchenne muscular dystrophy patients.The selenium deficiency disease exudative diathesis in chicks is associated with downregulation of seven common selenoprotein genes in liver and muscle.An analysis of exome sequencing for diagnostic testing of the genes associated with muscle disease and spastic paraplegia.Increased Probability of Co-Occurrence of Two Rare Diseases in Consanguineous Families and Resolution of a Complex Phenotype by Next Generation SequencingMutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicoresSelenoproteins and their impact on human health through diverse physiological pathways.Understanding selenoprotein function and regulation through the use of rodent models.Understanding the importance of selenium and selenoproteins in muscle functionReduced reliance on the trace element selenium during evolution of mammals.The congenital muscular dystrophies: recent advances and molecular insights.Multi-minicore Disease
P2860
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P2860
Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome.
description
2001 nî lūn-bûn
@nan
2001 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2001年の論文
@ja
2001年論文
@yue
2001年論文
@zh-hant
2001年論文
@zh-hk
2001年論文
@zh-mo
2001年論文
@zh-tw
2001年论文
@wuu
name
Mutations in SEPN1 cause conge ...... trictive respiratory syndrome.
@ast
Mutations in SEPN1 cause conge ...... trictive respiratory syndrome.
@en
type
label
Mutations in SEPN1 cause conge ...... trictive respiratory syndrome.
@ast
Mutations in SEPN1 cause conge ...... trictive respiratory syndrome.
@en
prefLabel
Mutations in SEPN1 cause conge ...... trictive respiratory syndrome.
@ast
Mutations in SEPN1 cause conge ...... trictive respiratory syndrome.
@en
P2093
P356
P1433
P1476
Mutations in SEPN1 cause conge ...... strictive respiratory syndrome
@en
P2093
Brockington M
Desguerre I
Estournet B
Jaillard C
Moghadaszadeh B
Quijano Roy S
P2888
P356
10.1038/NG713
P407
P577
2001-09-01T00:00:00Z