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
- 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 - Primary Ovarian Insufficiency (POI), a significant cause of female infertility, involves premature ovarian dysfunction before the age of 40 and is influenced by genetic predispositions, autoimmune disorders, environmental factors, and metabolic changes. In this study, we employed Whole Exome Sequencing (WES) to explore genetic variations linked to POI in Bangladeshi women. - Source: PubMed
Publication date: 2025/06/10
Pervin Hasna HenaMim Rabeya AkterGanguly AthoiKazal Rezaul KarimGutgutia RohitEshaque Tamannyat BinteOmar Farjana BintaRahaman Md AtikurHasan Md NahidIslam AmirulNassir NasnaHossain Mohammad ShahnoorAkter HosnearaUddin Mohammed