KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant - Wikidata - awgldk - TriplyDB

KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant

KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant

http://www.wikidata.org/entity/Q36004324

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Disruptive CHD8 mutations define a subtype of autism early in development CHD8 regulates neurodevelopmental pathways associated with autism spectrum disorder in neural progenitors A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystonia Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder Function Over Form: Modeling Groups of Inherited Neurological Conditions in Zebrafish Prenatal Neurogenesis in Autism Spectrum Disorders The study of psychiatric disease genes and drugs in zebrafish Toward developmental models of psychiatric disorders in zebrafish Reciprocal Effects on Neurocognitive and Metabolic Phenotypes in Mouse Models of 16p11.2 Deletion and Duplication Syndromes Identifying candidate genes for 2p15p16.1 microdeletion syndrome using clinical, genomic, and functional analysis.Structural variation mutagenesis of the human genome: Impact on disease and evolution.Discovery of Rare Mutations in Autism: Elucidating Neurodevelopmental Mechanisms Mutations in DCHS1 cause mitral valve prolapse The clustering of functionally related genes contributes to CNV-mediated disease Inhibition of neural crest formation by Kctd15 involves regulation of transcription factor AP-2 The BTB domains of the potassium channel tetramerization domain proteins prevalently assume pentameric states The zebrafish reference genome sequence and its relationship to the human genome Fusion of large-scale genomic knowledge and frequency data computationally prioritizes variants in epilepsy 16p11.2 Deletion Syndrome Mice Display Sensory and Ultrasonic Vocalization Deficits During Social Interactions.Behavioral abnormalities and circuit defects in the basal ganglia of a mouse model of 16p11.2 deletion syndrome.In vivo modeling of the morbid human genome using Danio rerio Scan statistic-based analysis of exome sequencing data identifies FAN1 at 15q13.3 as a susceptibility gene for schizophrenia and autism Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence data Integration of summary data from GWAS and eQTL studies predicts complex trait gene targets.Delineating the Common Biological Pathways Perturbed by ASD's Genetic Etiology: Lessons from Network-Based Studies A truncating mutation in CEP55 is the likely cause of MARCH, a novel syndrome affecting neuronal mitosis.Transcriptional consequences of 16p11.2 deletion and duplication in mouse cortex and multiplex autism families Opposing brain differences in 16p11.2 deletion and duplication carriers.Animal models of psychiatric disorders that reflect human copy number variation.Structural variants in the soybean genome localize to clusters of biotic stress-response genes.Phenotypic impact of genomic structural variation: insights from and for human disease.A novel ribosomopathy caused by dysfunction of RPL10 disrupts neurodevelopment and causes X-linked microcephaly in humans.The genomics of schizophrenia: update and implications.A rare duplication on chromosome 16p11.2 is identified in patients with psychosis in Alzheimer's disease Dosage changes of a segment at 17p13.1 lead to intellectual disability and microcephaly as a result of complex genetic interaction of multiple genes.De novo mutations in schizophrenia implicate synaptic networks Genetic Drivers of Kidney Defects in the DiGeorge Syndrome.Prioritization of Copy Number Variation Loci Associated with Autism from AutDB-An Integrative Multi-Study Genetic Database.Deciphering the pathogenic consequences of chromosomal aberrations in human genetic disease.BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies.

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KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant

http://www.wikidata.org/entity/Q36004324

description

2012 nî lūn-bûn

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2012年の論文

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2012年論文

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2012年論文

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2012年論文

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2012年論文

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2012年論文

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2012年论文

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2012年论文

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name

KCTD13 is a major driver of mi ...... he 16p11.2 copy number variant

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KCTD13 is a major driver of mi ...... he 16p11.2 copy number variant

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type

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KCTD13 is a major driver of mi ...... he 16p11.2 copy number variant

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KCTD13 is a major driver of mi ...... he 16p11.2 copy number variant

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KCTD13 is a major driver of mi ...... he 16p11.2 copy number variant

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KCTD13 is a major driver of mi ...... he 16p11.2 copy number variant

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KCTD13 is a major driver of mi ...... he 16p11.2 copy number variant

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Akira Sawa

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Edwin C Oh

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Jason Willer

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Mei Sun

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Sébastien Jacquemont

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Yu Taniguchi

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A tumor necrosis factor alpha- and interleukin 6-inducible protein that interacts with the small subunit of DNA polymerase delta and proliferating cell nuclear antigen

Shank3 mutant mice display autistic-like behaviours and striatal dysfunction

The histone methyltransferase SETDB1 is recurrently amplified in melanoma and accelerates its onset

Strong association of de novo copy number mutations with autism

Microduplications of 16p11.2 are associated with schizophrenia

Six new loci associated with body mass index highlight a neuronal influence on body weight regulation

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

Large recurrent microdeletions associated with schizophrenia

Tbx1 haploinsufficieny in the DiGeorge syndrome region causes aortic arch defects in mice

Association between microdeletion and microduplication at 16p11.2 and autism

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James F. Gusella

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Alexandre Reymond

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Jacques S. Beckmann

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