ArticleAmerican journal of human genetics2001
The human aminophospholipid-transporting ATPase gene ATP10C maps adjacent to UBE3A and exhibits similar imprinted expression.
Article in American journal of human genetics, 2001. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
30 citing papers in PubMed, 101 citations in OpenAlex.
- Two Genetic Mechanisms in Two Siblings with Intellectual Disability, Autism Spectrum Disorder, and Psychosis.Journal of personalized medicine · 2022Article
- Hereditary Spastic Paraplegia and Intellectual Disability: Clinicogenetic Lessons From a Family Suggesting a Dual Genetics Diagnosis.Frontiers in neurology · 2020Article
- Influence of the Prader-Willi syndrome imprinting center on the DNA methylation landscape in the mouse brain.Epigenetics · 2014Article
- The interstitial duplication 15q11.2-q13 syndrome includes autism, mild facial anomalies and a characteristic EEG signature.Autism research : official journal of the International Society for Autism Research · 2013Article
- Smchd1 regulates a subset of autosomal genes subject to monoallelic expression in addition to being critical for X inactivation.Epigenetics & chromatin · 2013Article
- Ube3a-ATS is an atypical RNA polymerase II transcript that represses the paternal expression of Ube3a.Human molecular genetics · 2012Article
- Molecular and Clinical Aspects of Angelman Syndrome.Molecular syndromology · 2012Article
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- Regulatory RNAs in brain function and disorders.Brain research · 2010Review
- The comorbidity of autism with the genomic disorders of chromosome 15q11.2-q13.Neurobiology of disease · 2010Review
- Atp10a, a gene adjacent to the PWS/AS gene cluster, is not imprinted in mouse and is insensitive to the PWS-IC.Neurogenetics · 2010Article
- Imprinting regulates mammalian snoRNA-encoding chromatin decondensation and neuronal nucleolar size.Human molecular genetics · 2009Article
- Noncoding RNAs in mental retardation.Clinical genetics · 2009Review
- Chromosome 15q11-13 duplication syndrome brain reveals epigenetic alterations in gene expression not predicted from copy number.Journal of medical genetics · 2009Article
- Gender influences monoallelic expression of ATP10A in human brain.Human genetics · 2008Article
- Genomic analysis of the chromosome 15q11-q13 Prader-Willi syndrome region and characterization of transcripts for GOLGA8E and WHCD1L1 from the proximal breakpoint region.BMC genomics · 2008Article
- Epigenetic allele silencing unveils recessive RYR1 mutations in core myopathies.American journal of human genetics · 2006Article
- Recent assembly of an imprinted domain from non-imprinted components.PLoS genetics · 2006Article
- Epigenetic overlap in autism-spectrum neurodevelopmental disorders: MECP2 deficiency causes reduced expression of UBE3A and GABRB3.Human molecular genetics · 2005Article
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4 authors at 1 institution in 1 country.
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Abstract
Maternal duplications of the imprinted 15q11-13 domain result in an estimated 1%-2% of autism-spectrum disorders, and linkage to autism has been identified within 15q12-13. UBE3A, the Angelman syndrome gene, has, to date, been the only maternally expressed, imprinted gene identified within this region, but mutations have not been found in autistic patients. Here we describe the characterization of ATP10C, a new human imprinted gene, which encodes a putative protein homologous to the mouse aminophospholipid-transporting ATPase Atp10c. ATP10C maps within 200 kb distal to UBE3A and, like UBE3A, also demonstrates imprinted, preferential maternal expression in human brain. The location and imprinted expression of ATP10C thus make it a candidate for chromosome 15-associated autism and suggest that it may contribute to the Angelman syndrome phenotype.
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