DUF1220 domains, cognitive disease, and human brain evolution
about
DUF1220 dosage is linearly associated with increasing severity of the three primary symptoms of autismEvolutionary history and genome organization of DUF1220 protein domainsReplicated linear association between DUF1220 copy number and severity of social impairment in autismDUF1220 copy number is associated with schizophrenia risk and severity: implications for understanding autism and schizophrenia as related diseasesDUF1220-domain copy number implicated in human brain-size pathology and evolutionNeocortex expansion is linked to size variations in gene families with chemotaxis, cell-cell signalling and immune response functions in mammalsThe case for DUF1220 domain dosage as a primary contributor to anthropoid brain expansionProximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypesCoherent somatic mutation in autoimmune disease.Evolution in health and medicine Sackler colloquium: Genomic disorders: a window into human gene and genome evolution.Evolution of genetic and genomic features unique to the human lineage.The ethics of using transgenic non-human primates to study what makes us human.DUF1220 protein domains drive proliferation in human neural stem cells and are associated with increased cortical volume in anthropoid primates.Investigation of selected genomic deletions and duplications in a cohort of 338 patients presenting with syndromic obesity by multiplex ligation-dependent probe amplification using synthetic probesNo effect of genome-wide copy number variation on measures of intelligence in a New Zealand birth cohort.Mode of genetic inheritance modifies the association of head circumference and autism-related symptoms: a cross-sectional studyFinished sequence and assembly of the DUF1220-rich 1q21 region using a haploid human genome.A replication study of schizophrenia-related rare copy number variations in a Han Southern Chinese population.The origins and evolution of genetic disease risk in modern humans.Annual research review: The (epi)genetics of neurodevelopmental disorders in the era of whole-genome sequencing--unveiling the dark matter.High resolution measurement of DUF1220 domain copy number from whole genome sequence data.Phylogenetic Analysis Supports a Link between DUF1220 Domain Number and Primate Brain Expansion.Human accelerated regions and other human-specific sequence variations in the context of evolution and their relevance for brain development.Genomic trade-offs: are autism and schizophrenia the steep price of the human brain?A proposal to change the name of the NBPF/DUF1220 domain to the Olduvai domain.
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P2860
DUF1220 domains, cognitive disease, and human brain evolution
description
2009 nî lūn-bûn
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2009 թուականին հրատարակուած գիտական յօդուած
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2009 թվականին հրատարակված գիտական հոդված
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2009年の論文
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2009年論文
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2009年論文
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2009年論文
@zh-hk
2009年論文
@zh-mo
2009年論文
@zh-tw
2009年论文
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name
DUF1220 domains, cognitive disease, and human brain evolution
@ast
DUF1220 domains, cognitive disease, and human brain evolution
@en
DUF1220 domains, cognitive disease, and human brain evolution
@en-gb
DUF1220 domains, cognitive disease, and human brain evolution
@nl
type
label
DUF1220 domains, cognitive disease, and human brain evolution
@ast
DUF1220 domains, cognitive disease, and human brain evolution
@en
DUF1220 domains, cognitive disease, and human brain evolution
@en-gb
DUF1220 domains, cognitive disease, and human brain evolution
@nl
prefLabel
DUF1220 domains, cognitive disease, and human brain evolution
@ast
DUF1220 domains, cognitive disease, and human brain evolution
@en
DUF1220 domains, cognitive disease, and human brain evolution
@en-gb
DUF1220 domains, cognitive disease, and human brain evolution
@nl
P2860
P3181
P356
P1476
DUF1220 domains, cognitive disease, and human brain evolution
@en
P2093
P2860
P304
P3181
P356
10.1101/SQB.2009.74.025
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P577
2009-01-01T00:00:00Z