Ask about this productRelated genes to: SDCCAG8 Blocking Peptide
- Gene:
- SDCCAG8 NIH gene
- Name:
- serologically defined colon cancer antigen 8
- Previous symbol:
- -
- Synonyms:
- NY-CO-8, CCCAP, SLSN7, NPHP10, BBS16
- Chromosome:
- 1q43-q44
- Locus Type:
- gene with protein product
- Date approved:
- 1999-08-25
- Date modifiied:
- 2018-07-27
Related products to: SDCCAG8 Blocking Peptide
Related articles to: SDCCAG8 Blocking Peptide
- The purpose of this study was to investigate whether the genetic architecture of translaminar cribrosa pressure difference (TLCPD) provides genetic insights based on dual-pressure theory beyond intraocular pressure (IOP) and whether a TLCPD-based polygenic risk score (PRS) predicts primary open-angle glaucoma (POAG) risk and its pleiotropic effects. - Source: PubMed
Hong In-ShikCho ChamleeKim BeomsuShim InjeongLee Yeong ChanJung Sang-HyukSong MinkuPark SanghyeonHong SanghoonJo HyeonbinKim HoyoungSeo Je HyunWon Hong-Hee - Syndromic associations of kidney and ophthalmological diseases are not typical in the young adult. The most common kidney manifestations are malformations of the genitourinary apparatus, while some syndromes can also present with kidney parenchymal disease. We report on a 51-year-old woman evaluated in the nephrology clinic for 12 months due to abnormal kidney function. She had been diagnosed with Usher syndrome due to the development of retinitis pigmentosa and sensorineural hearing loss in the last 20 years, without genetic testing. She had a family history of parental consanguinity, and disperse cardiac disease, congenital malformations, and congenital deafness. For chronic kidney disease of unknown etiology, a kidney biopsy was performed which revealed focal segmental glomerulosclerosis (FSGS) of the perihilar variant. This diagnosis prompted genetic testing that identified a mutation on gene SDCCAG8: c.397G>T, known for causing Bardet-Biedl type 16 and Senior-Løken type 7 syndromes. This case of perihilar FSGS is atypical in the setting of a ciliopathy and absence of metabolic or cardiovascular risk. Though urinary tract malformations and kidney disease can be expected, glomerular disease is not described in the literature. Genetic syndromic diagnoses require genetic screening due to the overlap of different symptoms and variable penetrance. The diagnosis of genetic diseases requires a high degree of suspicion, especially when the phenotype of the kidney disease is unusual. Identification of variants can help identify individuals who can benefit from genetic counseling. - Source: PubMed
Publication date: 2026/03/31
Milheiro JoaquimPinto RaquelVeiga CatarinaDias AdrianaPêgo CátiaLemos Sérgio - Bardet-Biedl Syndrome (BBS) is a ciliopathy often associated with progressive blindness and obesity. A patient presenting with BBS was discovered to have two mutations within 55bp of each other in intron 7 of (). One of the biallelic mutations, c.740+356C>T, causes inclusion of cryptic exon(s) containing premature termination codons, while c.740+301G>A has not been characterized. We hypothesized that antisense oligonucleotides (ASOs) complementary to the patient's mutations or to the cryptic exon splice sites would correct the splicing of between exons 7 and 8 to prevent cryptic exon inclusion and restore expression. We systematically screened 20nt-long ASOs tiled across each mutation and ASOs targeting the 3' splice sites of the cryptic exons in patient-derived fibroblasts, using RT-PCR assays to assess exon 7 and 8 splicing. We identified one ASO for each mutation and a cryptic exon-targeting ASO that restored the splicing pattern to that observed in an unaffected cell line. Lead ASOs were further investigated through RT-PCR, RNA sequencing, and western blotting to confirm ASO-mediated restoration of wild-type transcript and protein. Notably, ASO 20, which targets the cryptic exon 7a/7a' splice site rather than patient-specific mutations, achieved the greatest rescue effect, increasing exon 7-8 splicing from 0% to an average of 26% and restoring SDCCAG8 protein from undetectable levels to approximately 40% of wild-type expression. This mutation-agnostic approach could benefit multiple patients with cryptic exon inclusion in this region of , expanding therapeutic impact beyond traditional N-of-1 ASO strategies. These findings establish a molecular foundation for clinical development of ASO therapy for BBS caused by splicing defects. - Source: PubMed
Publication date: 2025/10/15
McEntee Kelleen EMcCurdy Bailey LLarson AustinMcCourt Emily AKaufman Michael LCampbell Amy EPearson Chad GDemarest ScottTaliaferro J MatthewHesselberth Jay RJagannathan Sujatha - Thyroid cancer (TC) is an endocrine malignancy characterized by metabolic abnormalities, with its incidence continually on the rise. Understanding the pathogenesis of this cancer would help develop better diagnostic and therapeutic methods. We aimed to integrate single-cell transcriptomics, bulk transcriptomics, and GWAS data to identify causal associations with thyroid cancer at the gene level. We intended to utilize single-cell atlases to identify malignant cells and their characteristics, and employed SMR to search for genetic loci causally associated with thyroid cancer. We validated the expression differences of the genes at the single-cell level and bulk level, as well as through immunohistochemistry experimental results. We investigated the tumor immune microenvironment of patients, attempting to find immune subgroups with differential proportions. Based on these subgroups, we conducted multi-machine learning modeling to predict the likelihood of disease and developed a corresponding interactive web application. HMGA2, SDCCAG8, DLG5, MT1E, RABL2B, RERE, and NDUFA12 all demonstrated to varying degrees their roles in promoting or inhibiting the occurrence and development of thyroid cancer, with HMGA2 showing consistency across all analyses. We also identified some immune subtypes significantly associated with TC and chose markers of T_cell_C8_STMN1 to construct patient diagnostic models. Through various combinations of machine learning feature selection and model construction, we ultimately built 178 diagnostic models, with the combination of glmBoost+RF having the best diagnostic performance (Average AUPR: 0.9915). The predictive web pages ( https://zclab-cnp.shinyapps.io/TC-WEB/ ) can provide convenience and reference for clinical personnel. - Source: PubMed
Publication date: 2025/11/17
Zhang CongWang YuXie Biao - Sperm flagellum defects are tightly associated with male infertility. Centriolar satellites are small multiprotein complexes that recruit satellite proteins to the centrosome and play an essential role in sperm flagellum biogenesis, but the precise mechanisms underlying this role remain unclear. (), which encodes a protein containing eight coiled-coil (CC) domains, has been associated with syndromic ciliopathies and male infertility. However, its exact role in male infertility remains undefined. Here, we used an mutant mouse carrying a CC domains 5-8 truncated mutation (c.1351-1352insG p.E451GfsX467) that models the mutation causing Senior-Løken syndrome (c.1339-1340insG p.E447GfsX463) in humans. The homozygous mutant mice exhibit male infertility characterized by multiple morphological abnormalities of the flagella (MMAF) and dysmorphic structures in the sperm manchette. A mechanistic study revealed that the SDCCAG8 protein is localized to the manchette and centrosomal region and interacts with PCM1, the scaffold protein of centriolar satellites, through its CC domains 5-7. The absence of the CC domains 5-7 in mutant spermatids destabilizes PCM1, which fails to recruit satellite components such as Bardet-Biedl syndrome 4 (BBS4) and centrosomal protein of 131 kDa (CEP131) to satellites, resulting in defective sperm flagellum biogenesis, as BBS4 and CEP131 are essential to flagellum biogenesis. In conclusion, this study reveals the central role of SDCCAG8 in maintaining centriolar satellite integrity during sperm flagellum biogenesis. - Source: PubMed
Publication date: 2025/07/23
Li KechengZhou XiaoliLiu WennaWang YangeZhang ZilongZhang HoubinJiang Li