Structure and organization of the human survival motor neurone (SMN) gene. - Wikidata - wikimedia - TriplyDB

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

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

http://www.wikidata.org/entity/Q34400462

about

Carrier screening for spinal muscular atrophy (SMA) in 107,611 pregnant women during the period 2005-2009: a prospective population-based cohort study Intragenic telSMN mutations: frequency, distribution, evidence of a founder effect, and modification of the spinal muscular atrophy phenotype by cenSMN copy number.Histone deacetylase inhibitors as potential treatment for spinal muscular atrophy High expression level of Tra2-β1 is responsible for increased SMN2 exon 7 inclusion in the testis of SMA mice An in vivo reporter system for measuring increased inclusion of exon 7 in SMN2 mRNA: potential therapy of SMA A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy Notable Carrier Risks for Individuals Having Two Copies of SMN1 in Spinal Muscular Atrophy Families with 2-copy Alleles: Estimation Based on Chinese Meta-analysis Data.Quantitative analysis of SMN1 gene and estimation of SMN1 deletion carrier frequency in Korean population based on real-time PCR Prevalence, incidence and carrier frequency of 5q-linked spinal muscular atrophy - a literature review.Pluripotent stem cells in neurodegenerative and neurodevelopmental diseases.A multi-source approach to determine SMA incidence and research ready population Treatment of spinal muscular atrophy by sodium butyrate.Identification of novel compounds that increase SMN protein levels using an improved SMN2 reporter cell assay.SMN-inducing compounds for the treatment of spinal muscular atrophy.Single-sperm analysis for recurrence risk assessment of spinal muscular atrophy.Quantitative analyses of SMN1 and SMN2 based on real-time lightCycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy.Quantitative analysis of survival motor neuron copies: identification of subtle SMN1 mutations in patients with spinal muscular atrophy, genotype-phenotype correlation, and implications for genetic counseling The promoters of the survival motor neuron gene (SMN) and its copy (SMNc) share common regulatory elements Stem cell transplantation in neurological diseases: improving effectiveness in animal models De novo rearrangements found in 2% of index patients with spinal muscular atrophy: mutational mechanisms, parental origin, mutation rate, and implications for genetic counseling High-resolution genetic and physical map of the Lgn1 interval in C57BL/6J implicates Naip2 or Naip5 in Legionella pneumophila pathogenesis.Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number Treatment of spinal muscular atrophy cells with drugs that upregulate SMN expression reveals inter- and intra-patient variability.Model systems of motor neuron diseases as a platform for studying pathogenic mechanisms and searching for therapeutic agents.Clinical and Genetic Study of Algerian Patients with Spinal Muscular Atrophy.Spinal muscular atrophy genetic counseling access and genetic knowledge: parents' perspectives.Validation of a high resolution NGS method for detecting spinal muscular atrophy carriers among phase 3 participants in the 1000 Genomes Project.Allele-specific PCR for a cost-effective & time-efficient diagnostic screening of spinal muscular atrophy.Spinal muscular atrophy genetic testing experience at an academic medical center.The survival motor neuron gene smn-1 interacts with the U2AF large subunit gene uaf-1 to regulate Caenorhabditis elegans lifespan and motor functions.Abnormal mitochondrial transport and morphology as early pathological changes in human models of spinal muscular atrophy.Monoubiquitination of survival motor neuron regulates its cellular localization and Cajal body integrity.Impaired Muscle Mitochondrial Biogenesis and Myogenesis in Spinal Muscular Atrophy.Survival motor neuron gene deletion in the arthrogryposis multiplex congenita-spinal muscular atrophy association.Perspectives and diagnostic considerations in spinal muscular atrophy.Neural stem cells: mechanisms and modeling.Spinal muscular atrophy: new findings for an old pathology.In vitro neurogenesis: development and functional implications of iPSC technology.Deficiency of the splicing factor Sfrs10 results in early embryonic lethality in mice and has no impact on full-length SMN/Smn splicing.Review of Spinal Muscular Atrophy (SMA) for Prenatal and Pediatric Genetic Counselors.

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P2860

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

http://www.wikidata.org/entity/Q34400462

description

1996 nî lūn-bûn

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1996 թուականի Մարտին հրատարակուած գիտական յօդուած

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1996 թվականի մարտին հրատարակված գիտական հոդված

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1996年の論文

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1996年論文

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1996年論文

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1996年論文

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1996年論文

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1996年論文

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1996年论文

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name

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

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

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Structure and organization of the human survival motor neurone

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type

label

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

@ast

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

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Structure and organization of the human survival motor neurone

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prefLabel

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

@ast

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

@en

Structure and organization of the human survival motor neurone

@nl

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

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Burlet P

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10.1006/GENO.1996.0147

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