Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease. - Wikidata - awgldk - TriplyDB

Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease.

Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease.

http://www.wikidata.org/entity/Q36775218

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A homozygous truncating mutation in PUS3 expands the role of tRNA modification in normal cognition Whole-genome sequencing in multiplex families with psychoses reveals mutations in the SHANK2 and SMARCA1 genes segregating with illness.Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort.PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment PIF* promotes brain re-myelination locally while regulating systemic inflammation- clinically relevant multiple sclerosis M.smegmatis model Evolutionary Divergence of the C-terminal Domain of Complexin Accounts for Functional Disparities between Vertebrate and Invertebrate Complexins Genomic diagnosis for children with intellectual disability and/or developmental delay Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate A comprehensive transcriptional map of primate brain development.Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation.Lysine Acetylation and Deacetylation in Brain Development and Neuropathies Lessons learned from additional research analyses of unsolved clinical exome cases.Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene.Emerging Mechanisms of Aminoacyl-tRNA Synthetase Mutations in Recessive and Dominant Human Disease.MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome.Clinical genomics: from a truly personal genome viewpoint.Glycan susceptibility factors in autism spectrum disorders.Predicting the pathogenicity of aminoacyl-tRNA synthetase mutations.Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders.Identification of novel candidate disease genes from de novo exonic copy number variants.Reply: PRUNE1: a disease-causing gene for secondary microcephaly.PRUNE1: a disease-causing gene for secondary microcephaly.Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield.Genetics of intellectual disability in consanguineous families.Targeted copy number screening highlights an intragenic deletion of WDR63 as the likely cause of human occipital encephalocele and abnormal CNS development in zebrafish.Nervous system development and disease: A focus on trithorax related proteins and chromatin remodelers.Autozygosity reveals recessive mutations and novel mechanisms in dominant genes: implications in variant interpretation.Variants in CPLX1 in two families with autosomal-recessive severe infantile myoclonic epilepsy and ID.Mob2 Insufficiency Disrupts Neuronal Migration in the Developing Cortex.Homozygous mutation in PRUNE1 in an Oji-Cree male with a complex neurological phenotype.Clinical and genetic characterization of AP4B1-associated SPG47.SNX14 mutations affect endoplasmic reticulum associated neutral lipid metabolism in autosomal recessive spinocerebellar ataxia 20.PRUNE Syndrome Is a New Neurodevelopmental Disorder: Report and Review.A novel multisystem disease associated with recessive mutations in the tyrosyl-tRNA synthetase (YARS) gene.Phenotypic expansion in - a common cause of intellectual disability in females

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Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease.

http://www.wikidata.org/entity/Q36775218

description

2015 nî lūn-bûn

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2015年の論文

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2015年論文

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2015年論文

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2015年論文

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2015年論文

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2015年論文

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2015年论文

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2015年论文

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2015年论文

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Genes that Affect Brain Struct ...... Mendelian Neurologic Disease.

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Genes that Affect Brain Struct ...... Mendelian Neurologic Disease.

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Genes that Affect Brain Struct ...... Mendelian Neurologic Disease.

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Genes that Affect Brain Struct ...... Mendelian Neurologic Disease.

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Genes that Affect Brain Struct ...... Mendelian Neurologic Disease.

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J.NEURON.2015.09.048

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Genes that Affect Brain Struct ...... Mendelian Neurologic Disease.

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Adnan Yuksel

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Alper Gezdirici

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Alper Han Cebi

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Asuman Koparir

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Ayse Aksoy

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B Bilge Geckinli

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Bo Yuan

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Burak Durmaz

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Darryl C De Vivo

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David R Adams

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P2860

Evidence for interaction between human PRUNE and nm23-H1 NDPKinase

Identification, cloning, and functional analysis of the human U6 snRNA-specific terminal uridylyl transferase

Human CLP1 mutations alter tRNA biogenesis, affecting both peripheral and central nervous system function

CLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegeneration

A genetic screen identifies the Triple T complex required for DNA damage signaling and ATM and ATR stability

Structural basis for different phosphoinositide specificities of the PX domains of sorting nexins regulating G-protein signaling

Complexins: cytosolic proteins that regulate SNAP receptor function

Identification of a polymorphic, neuron-specific chromatin remodeling complex

Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction

CECR2, a protein involved in neurulation, forms a novel chromatin remodeling complex with SNF2L

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Ian M. Campbell

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Ozlem Türkeli Sezer

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