The human aminophospholipid-transporting ATPase gene ATP10C maps adjacent to UBE3A and exhibits similar imprinted expression
about
Epigenetic overlap in autism-spectrum neurodevelopmental disorders: MECP2 deficiency causes reduced expression of UBE3A and GABRB3.Identification of four highly conserved genes between breakpoint hotspots BP1 and BP2 of the Prader-Willi/Angelman syndromes deletion region that have undergone evolutionary transposition mediated by flanking dupliconsThe comorbidity of autism with the genomic disorders of chromosome 15q11.2-q13Cytogenetic abnormalities and fragile-X syndrome in Autism Spectrum DisorderAltered ultrasonic vocalization and impaired learning and memory in Angelman syndrome mouse model with a large maternal deletion from Ube3a to Gabrb3.An essential subfamily of Drs2p-related P-type ATPases is required for protein trafficking between Golgi complex and endosomal/vacuolar systemRequirement for neo1p in retrograde transport from the Golgi complex to the endoplasmic reticulumChromosome 15q11-13 duplication syndrome brain reveals epigenetic alterations in gene expression not predicted from copy number.Recent assembly of an imprinted domain from non-imprinted components.Genomic analysis of the chromosome 15q11-q13 Prader-Willi syndrome region and characterization of transcripts for GOLGA8E and WHCD1L1 from the proximal breakpoint regionGender influences monoallelic expression of ATP10A in human brainNovel biomarkers distinguishing active tuberculosis from latent infection identified by gene expression profile of peripheral blood mononuclear cells.An aminophospholipid translocase associated with body fat and type 2 diabetes phenotypes.Polymorphisms in the SNRPN gene are associated with obesity susceptibility in a Spanish population.Epigenetic allele silencing unveils recessive RYR1 mutations in core myopathies.Distinct phenotypes distinguish the molecular classes of Angelman syndromeNoncoding RNAs in mental retardationMolecular genetics of autism spectrum disorder.Molecular and Clinical Aspects of Angelman Syndrome.Influence of the Prader-Willi syndrome imprinting center on the DNA methylation landscape in the mouse brain.Ube3a-ATS is an atypical RNA polymerase II transcript that represses the paternal expression of Ube3aRegulatory RNAs in brain function and disorders.Smchd1 regulates a subset of autosomal genes subject to monoallelic expression in addition to being critical for X inactivationImprinting regulates mammalian snoRNA-encoding chromatin decondensation and neuronal nucleolar size.The interstitial duplication 15q11.2-q13 syndrome includes autism, mild facial anomalies and a characteristic EEG signature.Clinical and genetic aspects of Angelman syndrome.Regulation of the large (approximately 1000 kb) imprinted murine Ube3a antisense transcript by alternative exons upstream of Snurf/Snrpn.Dense linkage disequilibrium mapping in the 15q11-q13 maternal expression domain yields evidence for association in autism.Mutation screening and transmission disequilibrium study of ATP10C in autism.
P2860
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P2860
The human aminophospholipid-transporting ATPase gene ATP10C maps adjacent to UBE3A and exhibits similar imprinted expression
description
2001 nî lūn-bûn
@nan
2001 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի հունիսին հրատարակված գիտական հոդված
@hy
2001年の論文
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2001年学术文章
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2001年学术文章
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2001年学术文章
@zh-hans
2001年学术文章
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2001年学术文章
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2001年學術文章
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name
The human aminophospholipid-tr ...... s similar imprinted expression
@ast
The human aminophospholipid-tr ...... s similar imprinted expression
@en
The human aminophospholipid-tr ...... s similar imprinted expression
@en-gb
The human aminophospholipid-tr ...... s similar imprinted expression
@nl
type
label
The human aminophospholipid-tr ...... s similar imprinted expression
@ast
The human aminophospholipid-tr ...... s similar imprinted expression
@en
The human aminophospholipid-tr ...... s similar imprinted expression
@en-gb
The human aminophospholipid-tr ...... s similar imprinted expression
@nl
prefLabel
The human aminophospholipid-tr ...... s similar imprinted expression
@ast
The human aminophospholipid-tr ...... s similar imprinted expression
@en
The human aminophospholipid-tr ...... s similar imprinted expression
@en-gb
The human aminophospholipid-tr ...... s similar imprinted expression
@nl
P2093
P2860
P356
P1476
The human aminophospholipid-tr ...... s similar imprinted expression
@en
P2093
D H Ledbetter
L B Herzing
P2860
P304
P356
10.1086/320616
P407
P50
P577
2001-05-11T00:00:00Z