Ask about this productRelated genes to: C9orf40 antibody
- Gene:
- C9orf40 NIH gene
- Name:
- chromosome 9 open reading frame 40
- Previous symbol:
- -
- Synonyms:
- FLJ10110
- Chromosome:
- 9q21.13
- Locus Type:
- gene with protein product
- Date approved:
- 2003-11-18
- Date modifiied:
- 2016-10-05
Related products to: C9orf40 antibody
Related articles to: C9orf40 antibody
- Cellular senescence, a permanent state of replicative arrest in otherwise proliferating cells, is a hallmark of aging and has been linked to aging-related diseases. Many genes play a role in cellular senescence, yet a comprehensive understanding of its pathways is still lacking. - Source: PubMed
Publication date: 2020/04/07
Avelar Roberto AOrtega Javier GómezTacutu RobiTyler Eleanor JBennett DominicBinetti PaoloBudovsky ArieChatsirisupachai KasitJohnson EmilyMurray AlexShields SamuelTejada-Martinez DanielaThornton DanielFraifeld Vadim EBishop Cleo Lde Magalhães João Pedro - The urinary excretion of organic and inorganic substances and their concentrations have attracted extensive attention for their role in the pathogenesis of urinary stone disease. The urinary excretion of specific factors associates with sex and age and seems to have a hereditary component, but the precise genomic determinants remain ill-defined. - Source: PubMed
Publication date: 2019/11/22
Ware Erin BSmith Jennifer AZhao WeiGanesvoort Ron TCurhan Gary CPollak MartinMount David BTurner Stephen TChen GuotaoShah Ronak JagdeepKardia Sharon L RLieske John C - Copy number variants represent an important cause of neurodevelopmental disorders including epilepsy, which is genetically determined in 40% of cases. Epilepsy is caused by chromosomal imbalances or mutations in genes encoding subunits of neuronal voltage- or ligand-gated ion channels or proteins related to neuronal maturation and migration during embryonic development. Here, we report on a girl with mild intellectual disability and idiopathic partial epilepsy. Array-CGH analysis showed a 1.040 Mb de novo interstitial deletion at 9q21.13 band encompassing only four genes, namely RORB, TRPM6, NMRK1, OSTF1, two open reading frames (C9orf40, C9orf41), and a microRNA (MIR548H3). RORB encodes a nuclear receptor highly expressed in the retina, cortex, and thalamus. We hypothesize its role in producing the phenotype of our patient and compare this case with other ones previously reported in the literature to better identify a genotype-phenotype correlation. - Source: PubMed
Publication date: 2013/12/17
Baglietto Maria GiuseppinaCaridi GianlucaGimelli GiorgioMancardi MargheritaPrato GiuliaRonchetto PatriziaCuoco CristinaTassano Elisa