RMND1 antibody
- Known as:
- RMND1 (anti-)
- Catalog number:
- orb101793
- Product Quantity:
- EUR
- Category:
- -
- Supplier:
- Biorbyt biorb
- Gene target:
- RMND1 antibody
Related genes to: RMND1 antibody
- Gene:
- RMND1 NIH gene
- Name:
- required for meiotic nuclear division 1 homolog
- Previous symbol:
- C6orf96
- Synonyms:
- bA351K16.3, FLJ20627, RMD1
- Chromosome:
- 6q25.1
- Locus Type:
- gene with protein product
- Date approved:
- 2003-05-22
- Date modifiied:
- 2015-07-22
Related products to: RMND1 antibody
Related articles to: RMND1 antibody
- Breast cancer genome-wide association studies (GWAS) in Hispanic/Latina (H/L) women in the United States and Latin American women have identified independent risk variants in the 6q25 region, including the protective variant rs140068132, located upstream of the Estrogen Receptor 1 (ESR1) gene. The molecular mechanisms linking this and other variants to breast cancer risk remain poorly understood. To investigate the potential functional role of rs140068132, we analyzed the association between this variant and gene expression in breast cancer tissue. We performed RNA-seq on 270 tumors from the Peruvian Genomics of Breast Cancer Study (PEGEN-BC) and determined intrinsic tumor subtypes using PAM50. The effect of rs140068132 on gene expression across tumor subtypes was assessed using models adjusted for age at diagnosis, Indigenous American genetic ancestry, PAM50 subtype, and an interaction term between tumor subtype and SNP genotype. Subtype-specific effects of the protective rs140068132-G allele were observed in HER2-enriched tumors, with increased expression of ARMT1, RMND1, and CCDC170. These results suggest that, in breast cancer tissue from Peruvian patients, rs140068132 influences the expression of multiple genes in a subtype-specific manner, likely acting through a regulatory element at 6q25 that modulates gene expression in cis depending on cellular context. - Source: PubMed
Publication date: 2026/09/23
Zavala Valentina AHuang XiaosongCasavilca-Zambrano SandroNavarro-Vásquez JeannieCastañeda Carlos AValencia GuillermoMorante ZaidaCalderón MónicaAbugattas Julio EGómez HenryFuentes Hugo ALiendo-Picoaga RuddyCotrina Jose MMonge-Pimentel ClaudiaNeciosup Silvia PVásquez JuleGálvez-Niño MarcoCastro VictorSalinas Agramonte Luis ARioja Viera PatriciaBravo-Poemape MileineMas LuisHuntsman ScottHu DongleiZabaleta JovannyZiv EladVidaurre TatianaFejerman Laura - While successful kidney transplantation has been reported in pediatric patients with primary mitochondrial diseases, immunosuppression regimen and its effect on systemic disease were not described. We present four pediatric patients with genetically confirmed RMND1 disease in a quaternary nephrology center. They presented at a very young age and progressed rapidly to stage 5 chronic kidney disease. All underwent successful kidney transplantation. Their allograft function remained stable throughout the follow-up period, and they did not manifest any major systemic deterioration. - Source: PubMed
Publication date: 2026/09/04
Wong Sze WaTomlin FredStojanovic Jelena - Perrault syndrome is a genetically and clinically diverse autosomal recessive disorder characterized by sensorineural hearing loss in both sexes and primary ovarian insufficiency in females. This comprehensive review synthesizes data from various studies to map the genetic architecture of Perrault syndrome, highlighting mutations in fifteen principal genes: HSD17B4, HARS2, CLPP, LARS2, TWNK, ERAL1, RMND1, DAP3, PRORP, MRPL50, MRPL49, MRPS7, PEX6, GGPS1, and TFAM. Each of these genes plays a critical role either in mitochondrial function or peroxisomal processes, central to cellular energy metabolism and biosynthesis pathways. The review not only documents the spectrum of mutations found within these genes but also correlates specific genetic alterations with the range of phenotypes observed in patients, emphasizing the syndrome's allelic, locus, and clinical heterogeneity. The cohort demonstrates a distribution of 56.1% homozygous and 43.9% compound heterozygous variants, reflecting diverse ancestral backgrounds and potential selective pressures against deleterious alleles. The findings underscore the necessity for advanced genetic screening techniques in accurate diagnosis and the potential for gene-specific therapies that may mitigate some of the clinical manifestations of this complex condition. - Source: PubMed
Publication date: 2026/06/12
Tlili AbdelazizKhudeir Joudi Feras - - Source: PubMed
Publication date: 2026/03/19
Zakrocka Izabela NKronbichler AndreasBouzarelou DimitraZałuska WojciechPapadopoulou EiriniNasioulas Georgios - Primary mitochondrial diseases are a group of rare, heterogeneous, multisystem disorders. While renal involvement is increasingly recognised, especially in paediatric patients, data on kidney transplantation outcomes in this population remain limited. - Source: PubMed
Publication date: 2025/11/27
Wong Sze WaFung Cheuk WingTomlin FredStojanovic Jelena