Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number - Wikidata - awgldk - TriplyDB

Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number

Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number

http://www.wikidata.org/entity/Q35250646

about

Carrier screening for spinal muscular atrophy (SMA) in 107,611 pregnant women during the period 2005-2009: a prospective population-based cohort study Evaluation of muscle strength and motor abilities in children with type II and III spinal muscle atrophy treated with valproic acid Modeling spinal muscular atrophy in Drosophila The zinc finger protein ZPR1 is a potential modifier of spinal muscular atrophy.Identification of a candidate modifying gene for spinal muscular atrophy by comparative genomics Intragenic telSMN mutations: frequency, distribution, evidence of a founder effect, and modification of the spinal muscular atrophy phenotype by cenSMN copy number.The contribution of mouse models to understanding the pathogenesis of spinal muscular atrophy Indoprofen upregulates the survival motor neuron protein through a cyclooxygenase-independent mechanism A positive modifier of spinal muscular atrophy in the SMN2 gene Survival motor neuron gene 2 silencing by DNA methylation correlates with spinal muscular atrophy disease severity and can be bypassed by histone deacetylase inhibition A SMN missense mutation complements SMN2 restoring snRNPs and rescuing SMA mice SMN1 dosage analysis in spinal muscular atrophy from India.Copy Number Variations in the Survival Motor Neuron Genes: Implications for Spinal Muscular Atrophy and Other Neurodegenerative Diseases Molecular Mechanisms of Neurodegeneration in Spinal Muscular Atrophy Spinal muscular atrophy: from gene discovery to clinical trials Spinal muscular atrophy: development and implementation of potential treatments Applicability of histone deacetylase inhibition for the treatment of spinal muscular atrophy Splicing therapy for neuromuscular disease Abnormal fatty acid metabolism in childhood spinal muscular atrophy Phenylbutyrate increases SMN expression in vitro: relevance for treatment of spinal muscular atrophy Prolactin increases SMN expression and survival in a mouse model of severe spinal muscular atrophy via the STAT5 pathway.Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72,400 specimens The SMN structure reveals its crucial role in snRNP assembly Repeated low doses of morpholino antisense oligomer: an intermediate mouse model of spinal muscular atrophy to explore the window of therapeutic response SAHA ameliorates the SMA phenotype in two mouse models for spinal muscular atrophy Early heart failure in the SMNDelta7 model of spinal muscular atrophy and correction by postnatal scAAV9-SMN delivery Carrier screening for spinal muscular atrophy Chondrolectin affects cell survival and neuronal outgrowth in in vitro and in vivo models of spinal muscular atrophy A role for SMN exon 7 splicing in the selective vulnerability of motor neurons in spinal muscular atrophy Evaluation of SMN protein, transcript, and copy number in the biomarkers for spinal muscular atrophy (BforSMA) clinical study A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy Spinal muscular atrophy variant with congenital fractures.Diagnosis of spinal muscular atrophy in an SMN non-deletion patient using a quantitative PCR screen and mutation analysis Translational readthrough by the aminoglycoside geneticin (G418) modulates SMN stability in vitro and improves motor function in SMA mice in vivo A novel method for oral delivery of drug compounds to the neonatal SMNDelta7 mouse model of spinal muscular atrophy Effects of 2,4-diaminoquinazoline derivatives on SMN expression and phenotype in a mouse model for spinal muscular atrophy The DcpS inhibitor RG3039 improves survival, function and motor unit pathologies in two SMA mouse models.Pathological impact of SMN2 mis-splicing in adult SMA mice Requirement of enhanced Survival Motoneuron protein imposed during neuromuscular junction maturation.Protective effects of butyrate-based compounds on a mouse model for spinal muscular atrophy.

P2860

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P2860

Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number

http://www.wikidata.org/entity/Q35250646

description

1997 nî lūn-bûn

@nan

1997 թուականի Յունիսին հրատարակուած գիտական յօդուած

@hyw

1997 թվականի հունիսին հրատարակված գիտական հոդված

@hy

1997年の論文

@ja

1997年論文

@yue

1997年論文

@zh-hant

1997年論文

@zh-hk

1997年論文

@zh-mo

1997年論文

@zh-tw

1997年论文

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name

Identification of proximal spi ...... SMNT and SMNC gene copy number

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Identification of proximal spi ...... SMNT and SMNC gene copy number

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type

label

Identification of proximal spi ...... SMNT and SMNC gene copy number

@ast

Identification of proximal spi ...... SMNT and SMNC gene copy number

@en

prefLabel

Identification of proximal spi ...... SMNT and SMNC gene copy number

@ast

Identification of proximal spi ...... SMNT and SMNC gene copy number

@en

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P1433

American Journal of Human Genetics

P1476

Identification of proximal spi ...... SMNT and SMNC gene copy number

@en

P2093

McAndrew PE

http://www.w3.org/2001/XMLSchema#string

Mendell JR

http://www.w3.org/2001/XMLSchema#string

Parsons DW

http://www.w3.org/2001/XMLSchema#string

Prior TW

http://www.w3.org/2001/XMLSchema#string

Ray PN

http://www.w3.org/2001/XMLSchema#string

Rochette C

http://www.w3.org/2001/XMLSchema#string

Simard LR

http://www.w3.org/2001/XMLSchema#string

P2860

The gene for neuronal apoptosis inhibitory protein is partially deleted in individuals with spinal muscular atrophy

Apparent gene conversions involving the SMN gene in the region of the spinal muscular atrophy locus on chromosome 5

A simple salting out procedure for extracting DNA from human nucleated cells

Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2-13.3

Identification and characterization of a spinal muscular atrophy-determining gene

Quantitative film detection of 3H and 14C in polyacrylamide gels by fluorography

Unusual molecular findings in autosomal recessive spinal muscular atrophy

A frame-shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients.

Structure and organization of the human survival motor neurone (SMN) gene.

An 11 base pair duplication in exon 6 of the SMN gene produces a type I spinal muscular atrophy (SMA) phenotype: further evidence for SMN as the primary SMA-determining gene.

P304

1411-1422

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10.1086/515465

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P433

6

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60

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P577

1997-06-01T00:00:00Z

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P5875

14018912

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P698

9199562

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P921

spinal muscular atrophy

P932

1716150

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