RDH11 Control Peptide antibody _CP
- Known as:
- RDH11 Control Peptide (anti-) _CP
- Catalog number:
- 'AP17673CP-N
- Product Quantity:
- 0.1 mg
- Category:
- -
- Supplier:
- ACR
- Gene target:
- RDH11 Control Peptide antibody _CP
Related genes to: RDH11 Control Peptide antibody _CP
- Gene:
- RDH11 NIH gene
- Name:
- retinol dehydrogenase 11
- Previous symbol:
- -
- Synonyms:
- MDT1, SDR7C1, ARSDR1
- Chromosome:
- 14q24.1
- Locus Type:
- gene with protein product
- Date approved:
- 2002-12-11
- Date modifiied:
- 2018-02-09
Related products to: RDH11 Control Peptide antibody _CP
Related articles to: RDH11 Control Peptide antibody _CP
- Biallelic variants in the RDH11 gene, a retinol dehydrogenase involved in the visual cycle and systemic retinoid homeostasis, were initially implicated in a rare condition characterized by retinal dystrophy, early-onset cataract, neurodevelopmental anomalies and myopathy, through single-family reports, with this association more recently being confirmed in a larger study. Here, we further establish the pathogenic role of RDH11 by presenting a large multi-center cohort, comprising eight individuals from seven unrelated families. Comprehensive genetic analysis identified homozygous variants in all affected subjects, including two novel variants, strongly supporting loss-of-function as the primary disease mechanism. Detailed clinical phenotyping defined a consistent and severe multisystem disorder. Ophthalmologically, the hallmark features include bilateral congenital or early-childhood cataracts requiring surgical intervention, accompanied by retinitis pigmentosa (RP). In terms of extra-ocular involvement, the cohort exhibited a high prevalence of neurodevelopmental delay, including intellectual disability, autistic spectrum disorder and learning difficulties. These features were frequently accompanied by congenital microcephaly, intrauterine and postnatal growth restriction, facial dysmorphisms, and dental anomalies. By significantly expanding both the mutational and phenotypic spectrum of RDH11-related disease, our findings provide independent replication of this gene-disease association and definitively support RDH11 as a bona fide syndromic RP gene. - Source: PubMed
Publication date: 2026/09/16
Karali MarianthiKohl SusanneTesta FrancescoHay EleanorKolambage Yasas DDemidov GermanHaack TobiasGhaedi HamidLin SiyingNatale GemmaSubasinghe VindyaRathnayake PyaraWörz SarahArno GavinBuchert RebeccaStingl KatarinaSimonelli FrancescaBanfi Sandro - Iron overload has been associated with sepsis, but the role of iron deficiency and its molecular links remain unclear. We investigated the association between iron deficiency and sepsis and identified candidate genes potentially linking these conditions. MIMIC-IV data were used to assess the association between serum iron and sepsis status. Transcriptomic datasets from dietary iron-deficient mice (GSE10421), LPS-induced septic mice (GSE267388), and a human blood sepsis cohort (GSE137340) were sequentially analyzed to identify and externally evaluate candidate genes. IEU Open GWAS summary statistics were used for exploratory Mendelian randomization (MR). Exploratory drug prediction was performed using L1000FWD, followed by molecular docking analysis. Patients with sepsis had significantly lower serum iron levels, and restricted cubic spline analysis showed a nonlinear association between serum iron and the odds of sepsis. Cross-tissue transcriptomic analysis identified Sqle, Lss, and Rdh11 as candidate genes. In the human blood cohort, SQLE and RDH11 were significantly increased, whereas LSS was not significantly altered. Exploratory MR showed that genetically proxied SQLE expression was associated with higher odds of sepsis (odds ratio [OR] = 1.23, P = 1.67 × 10-3), whereas LSS expression was associated with lower odds (OR = 0.97, P = 8.90 × 10-4); RDH11 showed no significant association (OR = 1.01, P = .90). Drug prediction identified ML106 as the top-ranked candidate drug, and molecular docking predicted potential binding poses with SQLE and LSS. Serum iron showed a nonlinear association with sepsis status. SQLE, LSS, and RDH11 emerged as candidate genes, with concordant expression changes of SQLE and RDH11 observed in human blood. MR findings for SQLE and LSS were exploratory and require further validation. ML106 was identified through exploratory drug prediction and requires experimental validation before its therapeutic relevance can be established. - Source: PubMed
Wu ZehongYi ZhangqingYao HanyiLi DongpingZhou HaojieWu JiamingHuang YuyangZhang Weizhi - To clarify the clinical significance and biological function of retinol dehydrogenase-11 (RDH11) in prostate cancer (PCa) and to elucidate the downstream signaling mechanism through which it drives tumor progression. - Source: PubMed
Publication date: 2026/06/17
Wang ShenghanZhang ShuyuXin ZekunLei ZhentaoXiong JieShi YuqiangYang LinGao QiangLe KaiZhang Bao - Biallelic variants in RDH11, encoding retinol dehydrogenase 11, have been associated with a syndromic disorder, based on 4 individuals from 2 unrelated families. We aimed to profile the clinical variability, natural history and associated molecular spectrum of this condition. - Source: PubMed
Publication date: 2026/03/25
Radio Francesca ClementinaTasca GiorgioCoppens SandraChillemi GiovanniWhalen SandraMarey IsabelleLeoni ChiaraOnesimo RobertaDeconinck NicolasD'Amico AdeleRemiche GauthierNascimento AndresOrtez CarlosJou CristinaLecomte SophieFalsini BenedettoCiolfi AndreaFerilli MarcoCappelletti CamillaNiceta MarcelloGowda Vykuntaraju KSrinivasan Varunvenkat MVahidi Mehrjardi Mohammad YahyaDadbinpour AliMovahedinia MojtabaFiroozfar ZahraAlavi ShahryarAlibakhshi RezaGhazinader DonyaMojarrad MajidRajati MohsenKeren BorisBertini Enrico SilvioZampino GiuseppeNatera de Benito DanielMaroofian RezaTartaglia Marco - Lung cancer is one of the leading causes of cancer-related deaths, among which NSCLC accounts for approximately 80-85% of all lung cancer cases. Paclitaxel (TAX) is a commonly used chemotherapeutic drug, but it is easy to cause drug resistance. Fluvastatin has anti-cancer potential, but the mechanism of its reversal of drug resistance is unclear. - Source: PubMed
Publication date: 2026/02/16
Xu HongyuDu ZedongShui JiaLi XuetingTang JuanLi Guangquan