The epsilon-sarcoglycan gene (SGCE), mutated in myoclonus-dystonia syndrome, is maternally imprinted - Wikidata - wikimedia - TriplyDB

The epsilon-sarcoglycan gene (SGCE), mutated in myoclonus-dystonia syndrome, is maternally imprinted

The epsilon-sarcoglycan gene (SGCE), mutated in myoclonus-dystonia syndrome, is maternally imprinted

http://www.wikidata.org/entity/Q28182925

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DLX5 and DLX6 expression is biallelic and not modulated by MeCP2 deficiency Distribution and Coexistence of Myoclonus and Dystonia as Clinical Predictors of SGCE Mutation Status: A Pilot Study.Myoclonus-dystonia syndrome associated with Russell Silver syndrome.Myoclonic disorders: a practical approach for diagnosis and treatment.Earlier onset of motor deficits in mice with double mutations in Dyt1 and Sgce.A novel mutation in the maternally imprinted PEG3 domain results in a loss of MIMT1 expression and causes abortions and stillbirths in cattle (Bos taurus).Exclusive paternal expression and novel alternatively spliced variants of epsilon-sarcoglycan mRNA in mouse brain.A genome scan for positive selection in thoroughbred horses.SGCE mutations cause psychiatric disorders: clinical and genetic characterization Abnormal nuclear envelope in the cerebellar Purkinje cells and impaired motor learning in DYT11 myoclonus-dystonia mouse models Alteration of striatal dopaminergic neurotransmission in a mouse model of DYT11 myoclonus-dystonia.SGCE isoform characterization and expression in human brain: implications for myoclonus-dystonia pathogenesis?Identification of novel gene targets and functions of p21-activated kinase 1 during DNA damage by gene expression profiling The role of imprinted genes in fetal growth abnormalities.Combined deficiency of alpha and epsilon sarcoglycan disrupts the cardiac dystrophin complex.Abnormal nuclear envelopes in the striatum and motor deficits in DYT11 myoclonus-dystonia mouse models SGCE and myoclonus dystonia: motor characteristics, diagnostic criteria and clinical predictors of genotype.Analysis of Genome-Wide Monoallelic Expression Patterns in Three Major Cell Types of Mouse Visual Cortex Using Laser Capture Microdissection.Recent advances in the molecular pathogenesis of dystonia-plus syndromes and heredodegenerative dystonias.Epsilon sarcoglycan mutations and phenotype in French patients with myoclonic syndromes Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.Faithful SGCE imprinting in iPSC-derived cortical neurons: an endogenous cellular model of myoclonus-dystonia.Milestones in dystonia.Psychiatric disorders, myoclonus dystonia, and the epsilon-sarcoglycan gene: a systematic review.Incomplete nonsense-mediated decay facilitates detection of a multi-exonic deletion mutation in SGCE.Diagnostic issues in childhood and adult dystonia.The genetics of dystonia: new twists in an old tale.Genetic Aspects of Myoclonus-Dystonia Syndrome (MDS).Sporadic and familial myoclonic dystonia: Report of three cases and review of literature The human Cas1 protein: a sialic acid-specific O-acetyltransferase?Myoclonus-dystonia and Silver-Russell syndrome resulting from maternal uniparental disomy of chromosome 7.Speech-activated Myoclonus Mimicking Stuttering in a Patient with Myoclonus-Dystonia Syndrome.Bilateral pallidal deep brain stimulation in myoclonus-dystonia: our experience in three cases and their follow-up.Progression of neuropsychiatric and cognitive features due to exons 2 to 5 deletion in the epsilon-sarcoglycan gene: a case report.Defining the epsilon-sarcoglycan (SGCE) gene phenotypic signature in myoclonus-dystonia: a reappraisal of genetic testing criteria.Novel SGCE mutation (p.Glu65*) in a Japanese family with myoclonus-dystonia.Beckwith-Wiedemann syndrome in sibs discordant for IC2 methylation.Myoclonus-dystonia and epilepsy in a family with a novel epsilon-sarcoglycan mutation.

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P2860

The epsilon-sarcoglycan gene (SGCE), mutated in myoclonus-dystonia syndrome, is maternally imprinted

http://www.wikidata.org/entity/Q28182925

description

2003 nî lūn-bûn

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2003 թուականի Փետրուարին հրատարակուած գիտական յօդուած

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2003 թվականի փետրվարին հրատարակված գիտական հոդված

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2003年の論文

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The epsilon-sarcoglycan gene ( ...... drome, is maternally imprinted

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The epsilon-sarcoglycan gene ( ...... drome, is maternally imprinted

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The epsilon-sarcoglycan gene ( ...... drome, is maternally imprinted

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The epsilon-sarcoglycan gene ( ...... drome, is maternally imprinted

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The epsilon-sarcoglycan gene ( ...... drome, is maternally imprinted

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The epsilon-sarcoglycan gene ( ...... drome, is maternally imprinted

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The epsilon-sarcoglycan gene ( ...... drome, is maternally imprinted

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The epsilon-sarcoglycan gene ( ...... drome, is maternally imprinted

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SJ.EJHG.5200938

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European Journal of Human Genetics

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The epsilon-sarcoglycan gene ( ...... drome, is maternally imprinted

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Bettina Lorenz-Depiereux

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Monika Grabowski

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Tim M Strom

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P2860

Human PEG1/MEST, an imprinted gene on chromosome 7

Bisulfite genomic sequencing: systematic investigation of critical experimental parameters

A genomic sequencing protocol that yields a positive display of 5-methylcytosine residues in individual DNA strands

gamma2-COP, a novel imprinted gene on chromosome 7q32, defines a new imprinting cluster in the human genome

A retrotransposon-derived gene, PEG10, is a novel imprinted gene located on human chromosome 7q21

Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome

Monoallelic expression of human PEG1/MEST is paralleled by parent-specific methylation in fetuses

Zac1 (Lot1), a potential tumor suppressor gene, and the gene for epsilon-sarcoglycan are maternally imprinted genes: identification by a subtractive screen of novel uniparental fibroblast lines.

Inherited Myoclonus-dystonia syndrome: narrowing the 7q21-q31 locus in German families.

A narrow segment of maternal uniparental disomy of chromosome 7q31-qter in Silver-Russell syndrome delimits a candidate gene region.

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sj.ejhg.5200938

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10.1038/SJ.EJHG.5200938

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2

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Thomas Meitinger

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Alexander Zimprich

Friedrich Asmus

Bettina Lorenz-Depiereux

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12634861

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