Mutations 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

Mutations 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

Item

http://www.wikidata.org/entity/Q24617292

Q24617292

about

Central core disease Increased muscle stress-sensitivity induced by selenoprotein N inactivation in mouse: a mammalian model for SEPN1-related myopathy Identification and characterization of selenoprotein K: an antioxidant in cardiomyocytes 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 Functions and evolution of selenoprotein methionine sulfoxide reductases Current Knowledge on the Importance of Selenium in Food for Living Organisms: A Review Approach to the diagnosis of congenital myopathies Structure-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 muscle Congenital muscular dystrophies: a brief review Prevalence of congenital muscular dystrophy in Italy: a population study 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 Normal myofibrillar development followed by progressive sarcomeric disruption with actin accumulations in a mouse Cfl2 knockout demonstrates requirement of cofilin-2 for muscle maintenance 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.Selective up-regulation of human selenoproteins in response to oxidative stress Limb-girdle and congenital muscular dystrophies: current diagnostics, management, and emerging technologies.Selenoproteins: the key factor in selenium essentiality. State of the art analytical techniques for selenoprotein studies.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 Efficient identification of novel mutations in patients with limb girdle muscular dystrophy Mutations in the selenocysteine insertion sequence-binding protein 2 gene lead to a multisystem selenoprotein deficiency disorder in humans.Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1).Multi-minicore disease and atypical periodic paralysis associated with novel mutations in the skeletal muscle ryanodine receptor (RYR1) gene.The selenium deficiency disease exudative diathesis in chicks is associated with downregulation of seven common selenoprotein genes in liver and muscle.Molecular actions of selenium in the brain: neuroprotective mechanisms of an essential trace element.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 Sequencing Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores Selenoproteins and their impact on human health through diverse physiological pathways.Understanding the importance of selenium and selenoproteins in muscle function Electron microscopy in neuromuscular disorders.The congenital muscular dystrophies: recent advances and molecular insights.Multi-minicore Disease The power of the zebrafish for disease analysis.Congenital muscular dystrophy. Part I: a review of phenotypical and diagnostic aspects.Congenital muscular dystrophy. Part II: a review of pathogenesis and therapeutic perspectives.

P2860

Q21202972-B42A4DCC-1EB8-4623-B596-BA27D85953A5 Q21560937-59A659AE-532A-416F-B67A-819C56D4D99E Q24302087-F4DFADA7-0704-4574-898C-47B529965E12 Q24546014-57E24992-2857-40B7-9622-A976F9B9440E Q24626002-9FACBCB5-57F4-4E80-B1CB-3E041945383D Q24633361-7A19960E-FF17-44AE-93DF-8C75EE9F44F1 Q26750464-4D1C365D-8A33-43A6-A9E9-38A9389381CE Q26999314-D6CC4BEA-1586-45F6-A1BC-B370ADD6EB03 Q27863410-7B24600F-87B6-4F76-AB9A-ABCD8AD40B63 Q28117333-17CDF810-ED63-4637-93CA-62EB7EA66EC6 Q28255519-723469C5-8E73-4C39-8C3F-35C7D97E874F Q28256516-9E059162-2369-43DD-8B91-A2A9FA575B21 Q28507150-7C7E9B21-A241-413B-AA1A-750B8810072D Q28508101-625661CF-239C-4415-B002-4E4165A32432 Q28511569-5E0C01FF-0327-4566-8C79-CA5A375FB1C1 Q28593211-1BDF7548-C2E5-4DCA-92EB-2AC63414627A Q30767612-8B173F2F-5F98-4A6B-938F-A7E65E96CE3F Q33495751-0312B485-DA33-4BF3-A5D8-FBC03223FD85 Q33652130-F45ADE24-BD7A-4DE2-A3A3-9D694DEAEFBE Q33837536-E500C901-FACB-4A99-912F-AABBD870712F Q33859591-D72859DB-646B-4627-81D9-3760E899CCCE Q34015865-AF007954-3417-4FF5-B186-438967A32088 Q34029071-B00284A9-ACE2-4A65-9903-8F42568977BE Q34152718-F6EC96D0-FA16-44BA-BC50-529C4B3D52A5 Q34360195-0F6CC2D6-966B-474A-83A2-EAC648838DEC Q34989619-292686EB-57C2-4DA0-9384-9185A24D9DEA Q35104636-310271B3-7874-4CA0-9BDA-B192294BD5D4 Q35173407-47E50A4C-76A7-42D0-8E97-268E43FB4C7F Q35716547-F0FEDD72-3EAA-4CD1-B8F4-291449B64181 Q35896989-D59773DC-C5A8-4890-873C-AB33BB672999 Q35898892-8C8129B6-92ED-4AAE-BE73-C14050AFF1C2 Q35904556-78A9F6B6-79E0-4E04-9798-3F04BADF5898 Q36025659-78C0FE26-E936-4044-ADCA-7B0B53741042 Q36325625-16A1BC87-A6EB-409F-8204-032E810B4569 Q36326526-8B5AE19F-112F-4281-AB84-D67CC1D1EE84 Q36681282-75F30668-AB29-418F-85C1-B33016CC8A41 Q36881612-7015ABD7-C356-4234-A0BC-91A4B33C5BAA Q37417898-845548A7-4A91-4B8B-8A4F-ECB4AB03A3E7 Q37426320-A0B5A739-2E61-4934-A22C-960A055D30CF Q37528083-6681335A-F734-4CA5-83D6-ED5855C4ACDC

P2860

Mutations 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

Item

http://www.wikidata.org/entity/Q24617292

description

2002 nî lūn-bûn

@nan

2002 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած

@hyw

2002 թվականի հոտեմբերին հրատարակված գիտական հոդված

@hy

2002年の論文

@ja

2002年論文

@yue

2002年論文

@zh-hant

2002年論文

@zh-hk

2002年論文

@zh-mo

2002年論文

@zh-tw

2002年论文

@wuu