SDCCAG10 antibody Polyclonal Antibodies Primary antibodies
- Known as:
- SDCCAG10 (anti-) Polyclonal Antibodies Primary antibodies
- Catalog number:
- orb100181
- Product Quantity:
- 100
- Category:
- -
- Supplier:
- Biorb
- Gene target:
- SDCCAG10 antibody Polyclonal Antibodies Primary antibodies
Related genes to: SDCCAG10 antibody Polyclonal Antibodies Primary antibodies
- Gene:
- CWC27 NIH gene
- Name:
- CWC27 spliceosome associated cyclophilin
- Previous symbol:
- SDCCAG10
- Synonyms:
- NY-CO-10, SDCCAG-10
- Chromosome:
- 5q12.3
- Locus Type:
- gene with protein product
- Date approved:
- 1999-07-23
- Date modifiied:
- 2019-04-09
Related products to: SDCCAG10 antibody Polyclonal Antibodies Primary antibodies
Related articles to: SDCCAG10 antibody Polyclonal Antibodies Primary antibodies
- Alzheimer's disease (AD) and type 2 diabetes mellitus (T2DM) are distinct yet interconnected disorders that frequently co-occur. While insulin resistance and impaired glucose metabolism have been implicated in their shared pathogenesis, the molecular mechanisms underlying this comorbidity remain incompletely understood. Emerging evidence suggests that circular RNAs (circRNAs), particularly those enriched in neural and metabolic tissues, may play regulatory roles in both diseases. - Source: PubMed
Publication date: 2025/10/02
Fang KeyingJiao BinShen LuLuo Shilin - CWC27 is a member of cyclophilin-type peptidyl-prolyl cis-trans isomerase family and takes part in the pre-mRNA splicing. The mutation of its gene, Cwc27, has been verified to be related to cancer, craniofacial and skeletal anomalies, retinal degeneration, and hearing loss. However, expression pattern of Cwc27 in the development of inner ear has not been fully understood. In this study, we studied the spatiotemporal expression of Cwc27 mRNA and CWC27 protein in the mouse inner ear from embryonic day (E) 9 to postnatal 0-day by in situ hybridization and immunohistochemistry staining, respectively. The expression level of Cwc27 was analyzed by quantitative reverse transcription polymerase chain reaction. We found that Cwc27 was expressed early in the otocyst at E9. At E13, Cwc27 was expressed in the cochlear duct, spiral ganglion area, and vestibular organ. The expression level of Cwc27 mRNA reached its maximum level at E13. From E14 onward, Cwc27 was expressed in the sensory epithelium in the cochlear duct and spiral ganglion area. From E18 onward, the distribution of CWC27 protein became more limited to the organ of Corti. Our study revealed Cwc27 might play an important part on promoting the development of developing inner ear. - Source: PubMed
Publication date: 2025/08/06
Gao LiTona YosukeOmori Koichi - Cholangiocarcinoma (CCA) is an epithelial bile duct cancer frequently found at an advanced stage, leading to poor response to current therapies. Although gemcitabine (GEM) and cisplatin (CIS) are the current gold-standard for treating unresectable CCA, GEM resistance often occurs. To predict the response to GEM, we evaluated chromosomal aberrations using a chromosome microarray, and their association with GEM response by histoculture drug response assay. Our findings revealed principal component analysis and orthogonal partial-least square discriminant analysis cross validated score plot between response and non-response groups were different. Different signature patterns of chromosomes between response and non-response groups analyzed by heatmap analysis identified 34 regions of 15 chromosomes. An increased signal in responders and a decreased signal in non-responders were found in regions 4q32.1, 5q12.3, 10q21.3, 11p11.2, 11q14.2, 16p11.2, 17q22, 21q21.3 and 22q12.3. In contrast, a high signal in non-responders and low signal in responders were seen in regions 2q37.2, 11q14.1, 16q22.3 and 16q23.3. High signal of CDH13 and TENM4 were demonstrated in GEM non-response, while a high CWC27 signal was noted in GEM response. This signature pattern could provide the knowledge to improve a predictive biomarker for GEM response, benefitting for individual CCA patient management and chemotherapeutic selection. - Source: PubMed
Publication date: 2025/04/08
Techa-Ay SutheemonWatcharadetwittaya SasithornDeenonpoe RaksawanSa-Ngiamwibool PrakasitPanwoon ChanitaLoilome WatcharinKlanrit PoramateTechasen AnchaleeChamgramol YaovaluxSuksawat ManidaArmartmuntree NapatO'Connor ThomasSaya HideyukiThanee Malinee - -related spliceosomeopathy is a rare autosomal recessive disorder with only 14 patients have been reported. It is characterized by retinal degeneration, short stature, skeletal anomalies, and neurological defects. We described the clinical features of a Chinese patient with -related spliceosomeopathy and identified the pathogenic variant. - Source: PubMed
Publication date: 2024/07/02
Li HuajinZheng KailingXie Maosong - The current genetic diagnostic workup of congenital cataract (CC) is mainly based on NGS panels, whereas exome sequencing (ES) has occasionally been employed. In this multicentre study, we investigated by ES the detection yield, mutational spectrum and genotype-phenotype correlations in a CC cohort recruited between 2020 and mid-2022. The cohort consisted of 67 affected individuals from 51 unrelated families and included both non-syndromic (75%) and syndromic (25%) phenotypes, with extra-CC ocular/visual features present in both groups (48% and 76%, respectively). The functional effect of variants was predicted by 3D modelling and hydropathy properties changes. Variant clustering was used for the in-depth assessment of genotype-phenotype correlations. A diagnostic (pathogenic or likely pathogenic) variant was identified in 19 out of 51 probands/families (~37%). In a further 14 probands/families a candidate variant was identified: in 12 families a VUS was detected, of which 9 were considered plausibly pathogenic (i.e., 4 or 5 points according to ACMG criteria), while in 2 probands ES identified a single variant in an autosomal recessive gene associated with CC. Eighteen probands/families, manifesting primarily non-syndromic CC (15/18, 83%), remained unsolved. The identified variants (8 P, 12 LP, 10 VUS-PP, and 5 VUS), half of which were unreported in the literature, affected five functional categories of genes involved in transcription/splicing, lens formation/homeostasis (i.e., crystallin genes), membrane signalling, cell-cell interaction, and immune response. A phenotype-specific variant clustering was observed in four genes (KIF1A, MAF, PAX6, SPTAN1), whereas variable expressivity and potential phenotypic expansion in two (BCOR, NHS) and five genes (CWC27, KIF1A, IFIH1, PAX6, SPTAN1), respectively. Finally, ES allowed to detect variants in six genes not commonly included in commercial CC panels. These findings broaden the genotype-phenotype correlations in one of the largest CC cohorts tested by ES, providing novel insights into the underlying pathogenetic mechanisms and emphasising the power of ES as first-tier test. - Source: PubMed
Publication date: 2024/06/05
Lecca MauroMauri LuciaGana SimoneDel Longo AlessandraMorelli FedericaNicotra RobertaPlumari MassimoGalli JessicaSirchia FabioValente Enza MariaCavallari UgoMazza MarcoSignorini SabrinaErrichiello Edoardo