Ask about this productRelated genes to: ILDR1 antibody
- Gene:
- ILDR1 NIH gene
- Name:
- immunoglobulin like domain containing receptor 1
- Previous symbol:
- DFNB42
- Synonyms:
- MGC50831
- Chromosome:
- 3q13.33
- Locus Type:
- gene with protein product
- Date approved:
- 2004-07-27
- Date modifiied:
- 2019-04-23
Related products to: ILDR1 antibody
Related articles to: ILDR1 antibody
- Age-related hearing loss (ARHL) is a common chronic condition that significantly affects the quality of life in older adults. Studies have shown that genetic factors play a substantial role in ARHL, with heritability estimates ranging from 46 to 74%. Although advances in genomics and epigenetics have led to the identification of numerous candidate genes in recent years, most related studies have focused on European and North American populations. There remains a lack of systematic mapping of research trends and cross-ethnic gene consistency, limiting the broad applicability of these findings. - Source: PubMed
Publication date: 2025/11/03
Lu YangShen JiaweiSou Ka Ho KairosLu HsiHuang ShuoyuanUus Kai - Reproductive traits of cattle, especially the Nelore breed, have notable importance in the global economy and are recognized throughout the beef cattle production system. Therefore, we aimed to identify regulatory networks of transcription factors (TFs) and the most promising candidate genes for scrotal circumference (SC), testicular hypoplasia (HT), and sexual precocity (SP) that were previously identified in GWAS analysis. We identified 444 genes from a peer-reviewed systematic review related to male reproductive traits. Biological processes were then identified using DAVID 6.8, and a regulatory network of TFs was constructed. Enriched biological processes and seven candidate genes (BICC1, CDH1, FOXG1, GHR, OR52E4, SLC17A7, and ITGA2) were identified, which were associated with some biological processes linked to reproduction. Furthermore, gene-TF networks were obtained from TFs (GABPA, HNF1A, HNF4A, PAX2, and TFAP2A) associated with bovine reproduction, and the 22 most promising candidate genes (CDKN2C, CLPTM1L, GCSAM, GPR12, GTF3A, HSPBAP1, IL32, ILDR1, LOC100141258, LOC100336282, LOC107131530, LOC112449111, LOC618541, LOC781785, MIX23, MTIF3, PARP9, PCED1B, RNASE2, SLC39A2, SPA17 and TMEM253) were found to be specifically linked to sexual precocity. The identified candidate genes and transcription factors have significant potential to influence the evaluated traits in Nelore bulls. Future research and applications of these genetic factors may improve the breeding and enhancement of Nelore cattle. - Source: PubMed
Publication date: 2025/07/25
Silva Evandro NevesDos Santos Thaís Cristina FerreiraVerardo Lucas LimaMagalhães Ana Fabrícia BragaDos Santos Silva Danielly Beraldo - Hearing loss (HL) is an impending disorder. The high incidence of congenital genetic HL affects the language and communication skills of a large number of children worldwide. Our study is mainly concerned with exploring the genetic etiology of congenital hearing loss through Sanger sequencing of the coding exon in GJB2, the most common causative gene worldwide, in 17 patients from 13 unrelated families followed by whole exome sequencing for cases showing biallelic wildtype GJB2. Eleven patients from eight families showed homozygous and compound heterozygous variants in the GJB2 gene. Six patients from five families proceeded to whole exome sequencing. One of them showed a reported variant in ILDR1, and three showed novel variants in the TMC1 and KCNQ1 genes. Two showed variants reported for the first time in HL patients in the PEX6 and MYO3A genes.In conclusion, this study suggests new insights into the contribution of MYO3A, KCNQ1, and PEX6 to congenital sensorineural hearing loss as well as possible expansion of the phenotypic spectrum of the TMC1 gene. What is Known: • Sanger sequencing and whole exome sequencing are used for molecular diagnosis of syndromic and non-syndromic types of hearing loss (HL). • TMC1 gene causes a type of non-syndromic HL. What is New: • Expanding the molecular spectrum of MYO3A, PEX6, TMC1, and KCNQ1 genes as contributor genes in HL by detecting variants first time to be detected in HL patients. • Expanding the clinical spectrum of TMC1 gene to cause syndromic and non-syndromic HL. - Source: PubMed
Publication date: 2025/03/18
Elbagoury Nagham MAshaat Engy AMekkawy Mona KMohamed Ragaey YAskoura Anas MMilad Peter MEssawi Mona L - Age-related (AR) hearing loss (HL) is the most prevalent sensorineural disorder in older adults. Here we demonstrate that rare-variants in well-established Mendelian HL genes play an important role in ARHL etiology. In all we identified 32 Mendelian HL genes which are associated with ARHL. We performed single and rare-variant aggregate association analyses using exome data obtained from white-Europeans with self-reported hearing phenotypes from the UK Biobank. Our analysis revealed previously unreported associations between ARHL and rare-variants in Mendelian non-syndromic and syndromic HL genes, including MYO15A, and WFS1. Additionally, rare-variant aggregate association analyses identified associations with Mendelian HL genes i.e., ACTG1, GRHL2, KCNQ4, MYO7A, PLS1, TMPRSS3, and TNRC6B. Four novel ARHL genes were also detected: FBXO2 and PALM3, implicated in HL in mice, TWF1, associated with HL in Dalmatian dogs, and TXNDC17. In-silico analyses provided further evidence of inner ear expression of these genes in both murine and human models, supporting their relevance to ARHL. Analysis of variants with minor allele frequency >0.005 revealed additional ARHL associations with known e.g., ILDR1 and novel i.e., ABHD12, COA8, KANSL1, SERAC1, and UBE3B Mendelian non-syndromic and syndromic HL genes as well as ARHL associations with genes that have not been previously reported to be involved in HL e.g., VCL. Rare-variants in Mendelian HL genes typically exhibited higher effect sizes for ARHL compared to those in other associated genes. In conclusion, this study highlights the critical role Mendelian non-syndromic and syndromic HL genes play in the etiology of ARHL. - Source: PubMed
Publication date: 2025/03/07
Cornejo-Sanchez Diana MBharadwaj ThashiDong RuiWang Gao TSchrauwen IsabelleDeWan Andrew TLeal Suzanne M - The tricellular tight junctions are crucial for the regulation of paracellular flux at tricellular junctions, where tricellulin (MARVELD2) and angulins (ILDR1, ILDR2, or LSR) are localized. The role of ILDR2 in podocytes, specialized epithelial cells in the kidney, is still unknown. We investigated the role of ILDR2 in glomeruli and its influence on blood filtration. Western blots, single-cell RNA sequencing (scRNA-seq), and superresolution microscopy showed a strong expression of ILDR2 in podocytes that colocalized with the podocyte-specific claudin CLDN5. Co-immunoprecipitation revealed that ILDR2 interacts with CLDN5. In glomerulopathies, induced by nephrotoxic serum and by desoxycorticosterone acetate (DOCA)-salt heminephrectomy, ILDR2 was strongly up-regulated. Furthermore, knockout mice exhibited glomerular hypertrophy and decreased podocyte density. However, they did not develop effacement of podocyte foot processes or proteinuria. Liquid chromatography-tandem mass spectrometry (LC-MS/MS) proteomic analysis of isolated glomeruli showed an increase in matrix proteins, such as fibronectin and collagens. This suggests a protective role of ILDR2 in glomerulopathies. - Source: PubMed
Publication date: 2024/11/07
Siegerist FlorianKliewe FelixHammer ElkeSchakau PaulChi Soh Joanne ErnWeber ClaudiaLindenmeyer MajaReichelt-Wurm SimoneDrenic VedranChatziantoniou ChristosChadjichristos Christos EZhang YiyingSimm StefanBanas Miriam CNauck MatthiasVölker UweEndlich Nicole