A novel maternally expressed gene, ATP10C, encodes a putative aminophospholipid translocase associated with Angelman syndrome.
about
Epigenetic overlap in autism-spectrum neurodevelopmental disorders: MECP2 deficiency causes reduced expression of UBE3A and GABRB3.Nitrosative stress inhibits the aminophospholipid translocase resulting in phosphatidylserine externalization and macrophage engulfmentThe human aminophospholipid-transporting ATPase gene ATP10C maps adjacent to UBE3A and exhibits similar imprinted expressionMaternal disruption of Ube3a leads to increased expression of Ube3a-ATS in trans.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 imprinting mechanism of the Prader-Willi/Angelman regional control center.The comorbidity of autism with the genomic disorders of chromosome 15q11.2-q13Microarray analysis of gene/transcript expression in Prader-Willi syndrome: deletion versus UPDAngelman syndrome: a review of the clinical and genetic aspectsCytogenetic abnormalities and fragile-X syndrome in Autism Spectrum DisorderA pathway from chromosome transfer to engineering resulting in human and mouse artificial chromosomes for a variety of applications to bio-medical challengesMammalian P4-ATPases and ABC transporters and their role in phospholipid transportCellular function and pathological role of ATP13A2 and related P-type transport ATPases in Parkinson's disease and other neurological disordersAltered 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 reticulumDrs2p-related P-type ATPases Dnf1p and Dnf2p are required for phospholipid translocation across the yeast plasma membrane and serve a role in endocytosis.Epigenetic and immune function profiles associated with posttraumatic stress disorder.Chromosome 15q11-13 duplication syndrome brain reveals epigenetic alterations in gene expression not predicted from copy number.Increased gene dosage of Ube3a results in autism traits and decreased glutamate synaptic transmission in mice.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 regionPractice guidelines for the molecular analysis of Prader-Willi and Angelman syndromes.Gender influences monoallelic expression of ATP10A in human brainGenome-wide prediction of imprinted murine genesA new susceptibility locus for migraine with aura in the 15q11-q13 genomic region containing three GABA-A receptor genesNovel biomarkers distinguishing active tuberculosis from latent infection identified by gene expression profile of peripheral blood mononuclear cells.Regulation of transbilayer plasma membrane phospholipid asymmetry.Comparison of mouse and human genomes followed by experimental verification yields an estimated 1,019 additional genes.Phosphatidylserine in the brain: metabolism and function.Imprinting disorders: non-Mendelian mechanisms affecting growth.Epigenetic allele silencing unveils recessive RYR1 mutations in core myopathies.The role of imprinted genes in fetal growth abnormalities.Distinct phenotypes distinguish the molecular classes of Angelman syndromeCritical role of a transmembrane lysine in aminophospholipid transport by mammalian photoreceptor P4-ATPase ATP8A2Increased copy number for methylated maternal 15q duplications leads to changes in gene and protein expression in human cortical samplesHigh concentrations of long interspersed nuclear element sequence distinguish monoallelically expressed genes.Transient Silencing of a Type IV P-Type ATPase, Atp10c, Results in Decreased Glucose Uptake in C2C12 Myotubes.Trisomy 21 Alters DNA Methylation in Parent-of-Origin-Dependent and -Independent Manners.The metabolomics of asthma control: a promising link between genetics and disease
P2860
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P2860
A novel maternally expressed gene, ATP10C, encodes a putative aminophospholipid translocase associated with Angelman syndrome.
description
2001 nî lūn-bûn
@nan
2001 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2001年の論文
@ja
2001年論文
@yue
2001年論文
@zh-hant
2001年論文
@zh-hk
2001年論文
@zh-mo
2001年論文
@zh-tw
2001年论文
@wuu
name
A novel maternally expressed g ...... ciated with Angelman syndrome.
@ast
A novel maternally expressed g ...... ciated with Angelman syndrome.
@en
type
label
A novel maternally expressed g ...... ciated with Angelman syndrome.
@ast
A novel maternally expressed g ...... ciated with Angelman syndrome.
@en
prefLabel
A novel maternally expressed g ...... ciated with Angelman syndrome.
@ast
A novel maternally expressed g ...... ciated with Angelman syndrome.
@en
P2093
P356
P1433
P1476
A novel maternally expressed g ...... ciated with Angelman syndrome.
@en
P2093
Kashiwagi A
Oshimura M
P356
10.1038/88209
P407
P577
2001-05-01T00:00:00Z