Ask about this productRelated genes to: C21ORF91 Blocking Peptide
- Gene:
- C21orf91 NIH gene
- Name:
- chromosome 21 open reading frame 91
- Previous symbol:
- C21orf38, C21orf14
- Synonyms:
- YG81, EURL, CSSG1
- Chromosome:
- 21q21.1
- Locus Type:
- gene with protein product
- Date approved:
- 2001-08-24
- Date modifiied:
- 2016-11-18
Related products to: C21ORF91 Blocking Peptide
Related articles to: C21ORF91 Blocking Peptide
- Reading Disability (RD) is often characterized by difficulties in the phonology of the language. While the molecular mechanisms underlying it are largely undetermined, loci are being revealed by genome-wide association studies (GWAS). In a previous GWAS for word reading (Price, 2020), we observed that top single-nucleotide polymorphisms (SNPs) were located near to or in genes involved in neuronal migration/axon guidance (NM/AG) or loci implicated in autism spectrum disorder (ASD). A prominent theory of RD etiology posits that it involves disturbed neuronal migration, while potential links between RD-ASD have not been extensively investigated. To improve power to identify associated loci, we up-weighted variants involved in NM/AG or ASD, separately, and performed a new Hypothesis-Driven (HD)-GWAS. The approach was applied to a Toronto RD sample and a meta-analysis of the GenLang Consortium. For the Toronto sample (n = 624), no SNPs reached significance; however, by gene-set analysis, the joint contribution of ASD-related genes passed the threshold (p~1.45 × 10, threshold = 2.5 × 10). For the GenLang Cohort (n = 26,558), SNPs in DOCK7 and CDH4 showed significant association for the NM/AG hypothesis (sFDR q = 1.02 × 10). To make the GenLang dataset more similar to Toronto, we repeated the analysis restricting to samples selected for reading/language deficits (n = 4152). In this GenLang selected subset, we found significant association for a locus intergenic between BTG3-C21orf91 for both hypotheses (sFDR q < 9.00 × 10). This study contributes candidate loci to the genetics of word reading. Data also suggest that, although different variants may be involved, alleles implicated in ASD risk may be found in the same genes as those implicated in word reading. This finding is limited to the Toronto sample suggesting that ascertainment influences genetic associations. - Source: PubMed
Publication date: 2022/11/29
Price Kaitlyn MWigg Karen GEising ElseFeng YuBlokland KirstenWilkinson MargaretKerr Elizabeth NGuger Sharon L Fisher Simon ELovett Maureen WStrug Lisa JBarr Cathy L - Much of the heredity of melanoma remains unexplained. We sought predisposing germline copy-number variants using a rare disease approach. - Source: PubMed
Publication date: 2021/06/18
Polubothu SatyamaanasaZecchin DavideAl-Olabi LaraLionarons Daniël AHarland MarkHorswell StuartThomas Anna CHunt LilianWlodarchak NathanAguilera PaulaBrand SarahBryant DaleCarrera CristinaChen HuiElgar GregHarwood Catherine AHowell MichaelLarue LionelLoughlin SamMacDonald JeffMalvehy JosepBarberan Sara Martinda Silva Vanessa MartinsMolina MiriamMorrogh DeborahMoulding DaleNsengimana JérémiePittman AlanPuig-Butillé Joan-AntonParmar KiranSebire Neil JScherer StephenStadnik PaulinaStanier PhilipTell GemmaWaelchli RegulaZarrei MehdiPuig SusanaBataille VéroniqueXing YongnaHealy EugeneMoore Gudrun EDi Wei-LiNewton-Bishop JuliaDownward JulianKinsler Veronica A - Neuropathological diseases of the central nervous system (CNS) are frequently associated with impaired differentiation of the oligodendroglial cell lineage and subsequent alterations in white matter structure and dynamics. Down syndrome (DS), or trisomy 21, is the most common genetic cause for cognitive impairments and intellectual disability (ID) and is associated with a reduction in the number of neurons and oligodendrocytes, as well as with hypomyelination and astrogliosis. Recent studies mainly focused on neuronal development in DS and underestimated the role of glial cells as pathogenic players. This also relates to C21ORF91, a protein considered a key modulator of aberrant CNS development in DS. We investigated the role of C21orf91 ortholog in terms of oligodendrogenesis and myelination using database information as well as through cultured primary oligodendroglial precursor cells (OPCs). Upon modulation of gene expression, we found this factor to be important for accurate oligodendroglial differentiation, influencing their capacity to mature and to myelinate axons. Interestingly, C21orf91 overexpression initiates a cell population coexpressing astroglial- and oligodendroglial markers indicating that elevated C21orf91 expression levels induce a gliogenic shift towards the astrocytic lineage reflecting non-equilibrated glial cell populations in DS brains. - Source: PubMed
Publication date: 2021/03/16
Reiche LauraGöttle PeterLane LydieDuek PaulaPark MinaAzim KasumSchütte JanaManousi AnastasiaSchira-Heinen JessicaKüry Patrick - Bladder urothelial carcinoma (BLCA) is recognized to be immunogenic and tumorigenic. This study identified a novel long noncoding RNA (lncRNA) signature for predicting survival for patients with BLCA. A univariate Cox regression model and the random survival forest-variable hunting (RSF-VH) algorithm were employed to achieve variable selection. Ten lncRNAs (LOC105375787, CYTOR, URB1-AS1, C21orf91-OT1, CASC15, LOC101928433, FLJ45139, LINC00960, HOTAIR and TTTY19) with the highest prognostic values were identified to establish the prognostic model. The nomogram integrating the signature and clinical factors showed high concordance index values of 0.94, 0.7 and 0.90 in the three datasets, and the calibration curves showed concordance between the predicted and observed 3- and 5-year survival rates. The risk score based on the 10-lncRNA signature accurately distinguished high- and low-risk BLCA patients with different disease-specific survival(DSS) or overall survival(OS) outcomes, which were stratified according to clinical factors, including T stage and tumour grade. Gene set enrichment analysis identified BLCA-specific biological pathways and enriched functional categories, such as the cell cycle, DNA repair and immune system. Furthermore, the increased infiltration of immune cells in the high-risk group indicated that lncRNA-related inflammation may reduce the survival of BLCA patients. - Source: PubMed
Publication date: 2021/02/17
Mao XuDongChen ShiHanLi GongHui - Triple-negative breast cancer (TNBC) is a type of highly invasive breast cancer with poor prognosis. Recently, massive data reveal that long non-coding RNAs (lncRNAs) play important roles in cancer progress. Recently, although the role of lncRNAs in breast cancer has been well documented, few focused on TNBC. In this study, we aimed to systematically identify functional lncRNAs and to explore its molecular mechanism on TNBC progress. - Source: PubMed
Publication date: 2021/01/29
Dan ZhengXiujing HeTing LuoXiaorong ZhongHong ZhengJiqiao YangYanchu LiJing Jing