Desmin-related myopathy with Mallory body-like inclusions is caused by mutations of the selenoprotein N gene. - Wikidata - awgldk - TriplyDB

Desmin-related myopathy with Mallory body-like inclusions is caused by mutations of the selenoprotein N gene.

Desmin-related myopathy with Mallory body-like inclusions is caused by mutations of the selenoprotein N gene.

http://www.wikidata.org/entity/Q33977996

about

Cardiomyopathy classification: ongoing debate in the genomics era Increased muscle stress-sensitivity induced by selenoprotein N inactivation in mouse: a mammalian model for SEPN1-related myopathy A single homozygous point mutation in a 3'untranslated region motif of selenoprotein N mRNA causes SEPN1-related myopathy The human selenoproteome: recent insights into functions and regulation Congenital myopathies: an update Structure-function relations, physiological roles, and evolution of mammalian ER-resident selenoproteins.Congenital muscular dystrophies: a brief review Selenoprotein N deficiency in mice is associated with abnormal lung development The transcription coactivator ASC-1 is a regulator of skeletal myogenesis, and its deficiency causes a novel form of congenital muscle disease Satellite cell loss and impaired muscle regeneration in selenoprotein N deficiency Diagnostic approach to the congenital muscular dystrophies.Selenoprotein N is dynamically expressed during mouse development and detected early in muscle precursors.A mutation in the SEPN1 selenocysteine redefinition element (SRE) reduces selenocysteine incorporation and leads to SEPN1-related myopathy Regulation and function of selenoproteins in human disease Mutations in the selenocysteine insertion sequence-binding protein 2 gene lead to a multisystem selenoprotein deficiency disorder in humans.Exercise reverses preamyloid oligomer and prolongs survival in alphaB-crystallin-based desmin-related cardiomyopathy.Increased Probability of Co-Occurrence of Two Rare Diseases in Consanguineous Families and Resolution of a Complex Phenotype by Next Generation Sequencing Target genes of neuron-restrictive silencer factor are abnormally up-regulated in human myotilinopathy Diagnostic immunohistochemistry in neuromuscular disorders.Selenoproteins and their impact on human health through diverse physiological pathways.Understanding the importance of selenium and selenoproteins in muscle function The congenital muscular dystrophies: recent advances and molecular insights.Viral-mediated expression of desmin mutants to create mouse models of myofibrillar myopathy.Known turnover and translation regulatory RNA-binding proteins interact with the 3' UTR of SECIS-binding protein 2.Molecular pathology of myofibrillar myopathies.Intermediate filament diseases: desminopathy.Congenital muscular dystrophy. Part I: a review of phenotypical and diagnostic aspects.Congenital muscular dystrophy. Part II: a review of pathogenesis and therapeutic perspectives.Targeted next generation sequencing identifies two novel mutations in SEPN1 in rigid spine muscular dystrophy 1.Selenoprotein N in skeletal muscle: from diseases to function.The ever-expanding spectrum of congenital muscular dystrophies.Altered RNA binding activity underlies abnormal thyroid hormone metabolism linked to a mutation in selenocysteine insertion sequence-binding protein 2.Myofibrillar Myopathies: New Perspectives from Animal Models to Potential Therapeutic Approaches.The modified base isopentenyladenosine and its derivatives in tRNA.SEPN1-related myopathy in three patients: novel mutations and diagnostic clues.Recoding elements located adjacent to a subset of eukaryal selenocysteine-specifying UGA codons.Ex vivo correction of selenoprotein N deficiency in rigid spine muscular dystrophy caused by a mutation in the selenocysteine codon.Dietary selenium regulation of transcript abundance of selenoprotein N and selenoprotein W in chicken muscle tissues.Ubiquitous expression of selenoprotein N transcripts in chicken tissues and early developmental expression pattern in skeletal muscles.Myotilinopathy: refining the clinical and myopathological phenotype.

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Desmin-related myopathy with Mallory body-like inclusions is caused by mutations of the selenoprotein N gene.

http://www.wikidata.org/entity/Q33977996

description

2004 nî lūn-bûn

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2004 թուականի Մայիսին հրատարակուած գիտական յօդուած

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2004 թվականի մայիսին հրատարակված գիտական հոդված

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2004年の論文

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2004年論文

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2004年論文

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2004年論文

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2004年論文

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2004年論文

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2004年论文

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Desmin-related myopathy with M ...... s of the selenoprotein N gene.

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Desmin-related myopathy with M ...... s of the selenoprotein N gene.

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Desmin-related myopathy with M ...... s of the selenoprotein N gene.

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Desmin-related myopathy with M ...... s of the selenoprotein N gene.

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Desmin-related myopathy with M ...... s of the selenoprotein N gene.

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Desmin-related myopathy with M ...... s of the selenoprotein N gene.

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Annals of Neurology

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Desmin-related myopathy with M ...... ns of the selenoprotein N gene

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P2093

Ana Ferreiro

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Carsten G Bönnemann

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Chantal Ceuterick-de Groote

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Folker Hanefeld

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Gudrun Schreiber

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Hans H Goebel

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Jared J Marks

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Jean-Jacques Martin

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Michel Fardeau

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Nathalie Goemans

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676-686

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scholarly article

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10.1002/ANA.20077

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5

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55

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Pascale Guicheney

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2004-05-01T00:00:00Z

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8582214

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15122708

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