Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome.
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Structural analysis of the KANSL1/WDR5/KANSL2 complex reveals that WDR5 is required for efficient assembly and chromatin targeting of the NSL complexRefinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorderCytogenomic Aberrations in Congenital Cardiovascular MalformationsOf mice and men: molecular genetics of congenital heart diseaseEpigenetics of Alzheimer's disease and frontotemporal dementiaAn epigenetic regulator emerges as microtubule minus-end binding and stabilizing factor in mitosis.Novel genetic loci underlying human intracranial volume identified through genome-wide associationMOF-associated complexes ensure stem cell identity and Xist repression.A de novo convergence of autism genetics and molecular neuroscience.Identification of structural variation in mouse genomes.Array-CGH analysis in Rwandan patients presenting development delay/intellectual disability with multiple congenital anomalies.Refining analyses of copy number variation identifies specific genes associated with developmental delayPhenotypic impact of genomic structural variation: insights from and for human disease.Walking the interactome for candidate prioritization in exome sequencing studies of Mendelian diseases.On the spot: very local chromosomal rearrangements.Genetic architecture of sporadic frontotemporal dementia and overlap with Alzheimer's and Parkinson's diseasesBoth rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyriaUbiquitin ligase HUWE1 regulates axon branching through the Wnt/β-catenin pathway in a Drosophila model for intellectual disability.KANSL1 gene disruption associated with the full clinical spectrum of 17q21.31 microdeletion syndrome.An evolutionary roadmap to the microtubule-associated protein MAP TauA novel Alzheimer disease locus located near the gene encoding tau protein.Novel insights into the genetics of smoking behaviour, lung function, and chronic obstructive pulmonary disease (UK BiLEVE): a genetic association study in UK Biobank.Structural diversity and African origin of the 17q21.31 inversion polymorphism.Comprehensive promoter level expression quantitative trait loci analysis of the human frontal lobe.The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant.Molecular and clinical delineation of the 17q22 microdeletion phenotype.Ohnologs are overrepresented in pathogenic copy number mutations.A case of 17q21.31 microduplication and 7q31.33 microdeletion, associated with developmental delay, microcephaly, and mild dysmorphic features.Making headway with genetic diagnostics of intellectual disabilities.Genomic approaches for studying craniofacial disorders.Chromatin regulators in neurodevelopment and disease: Analysis of fly neural circuits provides insights: Networks of chromatin regulators and transcription factors underlie Drosophila neurogenesis and cognitive defects in intellectual disability andYY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction.Gene discovery and functional assessment of rare copy-number variants in neurodevelopmental disorders.Genetic studies in intellectual disability and related disorders.When the face says it all: dysmorphology in identifying syndromic causes of epilepsy.Human adaptation and evolution by segmental duplication.Chromosomal Microarrays: Understanding Genetics of Neurodevelopmental Disorders and Congenital Anomalies.Clinical, genetic and neuropathological findings in a series of 138 fetuses with a corpus callosum malformation.Mouse models of 17q21.31 microdeletion and microduplication syndromes highlight the importance of Kansl1 for cognition.Partial microduplication in the histone acetyltransferase complex member KANSL1 is associated with congenital heart defects in 22q11.2 microdeletion syndrome patients.
P2860
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P2860
Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome.
description
2012 nî lūn-bûn
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2012年の論文
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2012年学术文章
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2012年学术文章
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2012年学术文章
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name
Mutations in the chromatin mod ...... q21.31 microdeletion syndrome.
@en
Mutations in the chromatin mod ...... q21.31 microdeletion syndrome.
@nl
type
label
Mutations in the chromatin mod ...... q21.31 microdeletion syndrome.
@en
Mutations in the chromatin mod ...... q21.31 microdeletion syndrome.
@nl
prefLabel
Mutations in the chromatin mod ...... q21.31 microdeletion syndrome.
@en
Mutations in the chromatin mod ...... q21.31 microdeletion syndrome.
@nl
P2093
P2860
P50
P356
P1433
P1476
Mutations in the chromatin mod ...... q21.31 microdeletion syndrome.
@en
P2093
Anne Chun-Hui Tsai
Arjan P M de Brouwer
Bert B A de Vries
David A Koolen
Ernie M H F Bongers
Eugene T P Verwiel
Frances V Elmslie
Han G Brunner
Heather L Moore-Barton
Helger G Yntema
P2860
P2888
P304
P356
10.1038/NG.2262
P407
P50
P577
2012-04-29T00:00:00Z