Ask about this productRelated genes to: LRRC51 antibody
- Gene:
- LRTOMT NIH gene
- Name:
- leucine rich transmembrane and O-methyltransferase domain containing
- Previous symbol:
- LRRC51, DFNB63
- Synonyms:
- COMT2, CFAP111
- Chromosome:
- 11q13.4
- Locus Type:
- gene with protein product
- Date approved:
- 2005-05-26
- Date modifiied:
- 2017-05-22
Related products to: LRRC51 antibody
Related articles to: LRRC51 antibody
- Steroid hormones, particularly estrogens, modulate neuronal survival in the central nervous system and the retina; however, their specific cell-type-specific roles in the human retina remain incompletely characterized. We analyzed the single-cell RNA sequencing dataset E-MTAB-7316 to profile genes from the KEGG steroid hormone biosynthesis and oestrogen signalling pathways. Functional relevance of local oestrogen synthesis was tested in mouse retinal explants treated with the aromatase inhibitor letrozole (20 μM). Over 50% of steroid hormone metabolism genes were expressed in retinal cells, with cell-type specificity. COMT, HSD17B12, and HSD11B1L were broadly distributed, while LRTOMT, HSD17B7, and SRD5A1 were enriched in rod photoreceptors. Among oestrogen signalling genes, 114/139 were detected, with HSP90AA1 as the most abundant. When oestrogen synthesis was blocked with letrozole, retinal explants showed increased cell death, particularly in the outer nuclear layer, without inducing macrogliosis but with significant microglial activation (IBA1+). Our data indicate that the human retina expresses multiple components of steroid hormone metabolism and oestrogen signalling. The results are consistent with a potential role of locally synthesized oestrogens in photoreceptor maintenance and immune regulation, which may warrant further investigation as a possible avenue for retinal protection. - Source: PubMed
Canto AntolinValero-Ochando JavierLópez-Pedrajas RosaOlivar TeresaHernández-Rabaza VicenteAlmansa InmaculadaMiranda María - This study reports the rare co-occurrence of (causing Bietti crystalline dystrophy, BCD) and (causing nonsyndromic hearing loss) variants within a single family and analyzes their clinical correlation. - Source: PubMed
Publication date: 2026/03/02
Zhong XueDuan HuijinLiu JieYu LinqiongLin JingLiu Shiguo - The molecular genetic diagnosis of prelingual sensorineural hearing impairment (HI) is essential for genetic counseling and patient management. Effective diagnosis requires a knowledge of the genetic architecture of HI, which is often lacking. We established a cohort of 450 unrelated patients with familial (at least two affected relatives) severe-to-profound bilateral prelingual HI in five countries with high consanguinity rates: Tunisia, Jordan, Algeria, Morocco, and Mauritania (the TJAMM cohort). Recessive and dominant inheritance were observed in 92% and 8% of cases, respectively; 14% were syndromic. Genome analysis detected 211 different mutations (36% not reported before) in 49 deafness genes, and fully resolved 90% of cases of autosomal recessive isolated deafness (DFNB forms), 89% of the mutations being homozygous. The deafness genes involved were similar in different countries, but their mutations, except a few in and , differed considerably, suggesting an overrepresentation of private mutations. Biallelic missense mutations in , , , cause either DFNB forms or Usher syndrome type 1 (USH1) ( genes). Such mutations were overrepresented (13% of patients), highlighting the importance of distinguishing between these two mutation classes. We hypothesized that current difficulties might stem from the misclassification of certain mutations. By studying the 65 missense mutations reported to cause DFNB in the homozygous state, we identified some that, when associated with a loss-of-function mutation, resulted in USH1, a characteristic pattern of some recessive hypomorphic mutations. This reappraised classification of mutations has the potential to improve molecular diagnosis and patient management significantly. - Source: PubMed
Publication date: 2025/12/08
Riahi ZiedBoucher SophieAbdi SamiaWong Jun Tai FabienneSingh-Estivalet AmritAghaie AsadollahNiasme-Grare MagaliHardelin Jean-PierreBehlouli AsmaDahmani MalikaTalbi SoniaBouyacoub YosraMkaouar RahmaCharfeddine CherineAmalou GhitaBakhchane AminaBousfiha AmaleSalime SaraElrharchi SoukainaSalame MalakHadrami MounaBoussaty ElyCharoute HichamDetsouli MustaphaSnoussi KhalidRouba HassanHachmi Hala ElVeten FatimetouMeiloud GhlanaMarrakchi JiheneZainine RimChahed HoudaBesbes GhaziTrabelsi MedihaMrad RidhaKraoua IchrafOuhab SofianeDjennaoui DjamelBoudjenah FaridChouery ElianeMustapha MirnaHoumeida AhmedBarakat AbdelhamidKhodja Fatima AmmarMakrelouf MohamedZenati AkilaBeltaief NajehAbdelhak SoniaPetit ChristineBonnet Crystel
- Source: PubMed
- Prostate cancer remains a significant public health concern in sub-Saharan Africa, particularly impacting South Africa with high mortality rates. Despite many years of extensive research and significant financial expenditure, there has yet to be a definitive solution to prostate cancer. It is not just individuals who vary in their response to treatment, but even different nodules within the same tumor exhibit unique transcriptome patterns. These distinctions extend beyond mere differences in gene expression levels to encompass the control and networking of individual genes. Escalating chemotherapy resistance in prostate cancer patients has prompted increased research into its underlying mechanisms. The heterogeneous nature of transcriptomic organization among men makes the pursuit of universal biomarkers and one-size-fits-all treatments impractical. This study delves into the expression of drug resistance-associated genes, ABCB1 and CYP1B1, in cancer cells. Employing bioinformatics, we explored the molecular pathways and cascades linked to drug resistance following upregulation of these genes. Samples were obtained from archived prostate cancer patient specimens through pre-treatment biopsies of two categories: good vs. poor responders, with cDNAs synthesized from isolated RNAs subjected to qPCR analysis. The results revealed increased ABCB1 and CYP1B1 expression in tumor samples of the poor responders. Gene enrichment and network analysis associated ABCB1 with ABC transporters and LncRNA-mediated therapeutic resistance (WP3672), while CYP1B1 was linked to ovarian steroidogenesis, tryptophan metabolism, steroid hormone biosynthesis, benzo(a)pyrene metabolism, the sulindac metabolic pathway, and the estrogen receptor pathway, which are associated with drug resistance. Both ABCB1 and CYP1B1 correlated with microRNAs in cancer and the Nuclear Receptors Meta-Pathway. STRING analysis predicted protein-protein interactions of ABCB1 and CYP1B1 with Glutathione S-transferase Pi, Catechol O-methyltransferase, UDP-glucuronosyltransferase 1-6, Leucine-rich Transmembrane and O-methyltransferase (LRTOMT), and Epoxide hydrolase 1, with scores of 0.973, 0.971, 0.966, 0.966, and 0.966, respectively. Furthermore, molecular docking analysis of the chemotherapy drug, docetaxel, with CYP1B1 and ABCB1 revealed robust molecular interactions, with binding energies of -20.37 and -15.25 Kcal/mol, respectively. These findings underscore the susceptibility of cancer patients to drug resistance due to increased ABCB1 and CYP1B1 expression in tumor samples from patients in the poor-responders category that affects associated molecular pathways. The potent molecular interactions of ABCB1 and CYP1B1 with docetaxel further emphasize the potential basis for chemotherapy resistance. - Source: PubMed
Publication date: 2024/03/11
Gumenku LemohangSekhoacha MamelloAbrahams BeynonMashele SamsonShoko AubreyErukainure Ochuko L