| Imputation of SNPs associated with presbycusis through linkage disequilibrium analysis in the ILDR1 gene. | Imputation of SNPs associated with presbycusis through linkage disequilibrium analysis in the ILDR1 gene.
Flores SV, Levi-Monsalve A, Alvarez-Lobo JP. | 02/24/2023 |
| The study shows that the novel p.G141R mutation in ILDR1 is the likely genetic cause for the hearing impairment in two unrelated Chinese Han DFNB42 families. | A Novel p.G141R Mutation in ILDR1 Leads to Recessive Nonsyndromic Deafness DFNB42 in Two Chinese Han Families.
Wang X, Wang L, Peng H, Yang T, Wu H., Free PMC Article | 12/1/2018 |
| this is the first ILDR1 and MYO6 mutations recognized in the southwest Iran. Our data expands the spectrum of mutations in ILDR1 and MYO6 genes. | Next-generation sequencing identifies three novel missense variants in ILDR1 and MYO6 genes in an Iranian family with hearing loss with review of the literature.
Talebi F, Mardasi FG, Asl JM, Sayahi M. | 12/30/2017 |
| The present study reports a first ILDR1 gene mutation in a consanguineous family with hearing loss in the UAE, and confirms that the whole-exome sequencing approach is a robust tool for the diagnosis of monogenic diseases with high levels of allelic and locus heterogeneity. | Identification of a novel frameshift mutation in the ILDR1 gene in a UAE family, mutations review and phenotype genotype correlation.
Tlili A, Fahd Al Mutery A, Mahfood M, Kamal Eddine Ahmad Mohamed W, Bajou K., Free PMC Article | 10/28/2017 |
| We discovered two genome-wide significant SNPs. The first was novel and near ISG20. The second was in TRIOBP, a gene previously associated with prelingual nonsyndromic hearing loss. Motivated by our TRIOBP results, we also looked at exons in known hearing loss genes, and identified two additional SNPs, rs2877561 in ILDR1 and rs9493672 in EYA4 (at a significance threshold adjusted for number of SNPs in those regions). | A Large Genome-Wide Association Study of Age-Related Hearing Impairment Using Electronic Health Records.
Hoffmann TJ, Keats BJ, Yoshikawa N, Schaefer C, Risch N, Lustig LR., Free PMC Article | 05/13/2017 |
| consanguineous deaf families with novelmutations in the ILDR1 gene, were identified. | Two novel mutations in ILDR1 gene cause autosomal recessive nonsyndromic hearing loss in consanguineous Iranian families.
Mehrjoo Z, Babanejad M, Kahrizi K, Najmabadi H. | 04/16/2016 |
| Whole-exome sequencing of a Korean multiplex family segregating partial deafness identified a novel homozygous ILDR1 variant (p.P69H) within the Ig-like domain. | Downsloping high-frequency hearing loss due to inner ear tricellular tight junction disruption by a novel ILDR1 mutation in the Ig-like domain.
Kim NK, Higashi T, Lee KY, Kim AR, Kitajiri S, Kim MY, Chang MY, Kim V, Oh SH, Kim D, Furuse M, Park WY, Choi BY., Free PMC Article | 12/5/2015 |
| Data indicate a mutation in immunoglobulin-like domain containing receptor 1 (ILDR1) as a causative gene for autosomal-recessive non-syndromic hearing loss (arNSHL) in a consanguineous Saudi family with three affected children. | ILDR1: Novel mutation and a rare cause of congenital deafness in the Saudi Arabian population.
Ramzan K, Taibah K, Tahir AI, Al-Tassan N, Berhan A, Khater AM, Al-Hazzaa SA, Al-Owain M, Imtiaz F. | 02/7/2015 |
| The findings show the heterogeneity of the molecular organization of tTJs in terms of the content of LSR, ILDR1 or ILDR2, and suggest that ILDR1-mediated recruitment of tricellulin to TCs is required for hearing. | Analysis of the 'angulin' proteins LSR, ILDR1 and ILDR2--tricellulin recruitment, epithelial barrier function and implication in deafness pathogenesis.
Higashi T, Tokuda S, Kitajiri S, Masuda S, Nakamura H, Oda Y, Furuse M. | 11/23/2013 |
| The analysis of gene expression was extended to Refractory Anemia (RA) and Refractory Anemia with excess blasts (RAEB) cases revealing ILDR1 overexpression in 36% of RAEB subgroup. | A new recurrent chromosomal translocation t(3;11)(q13;q14) in myelodysplastic syndromes associated with overexpression of the ILDR1 gene.
Zagaria A, Anelli L, Coccaro N, Casieri P, Minervini A, Buttiglione V, Ricco A, Specchia G, Albano F. | 08/4/2012 |
| Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42. | Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42.
Borck G, Ur Rehman A, Lee K, Pogoda HM, Kakar N, von Ameln S, Grillet N, Hildebrand MS, Ahmed ZM, Nürnberg G, Ansar M, Basit S, Javed Q, Morell RJ, Nasreen N, Shearer AE, Ahmad A, Kahrizi K, Shaikh RS, Ali RA, Khan SN, Goebel I, Meyer NC, Kimberling WJ, Webster JA, Stephan DA, Schiller MR, Bahlo M, Najmabadi H, Gillespie PG, Nürnberg P, Wollnik B, Riazuddin S, Smith RJ, Ahmad W, Müller U, Hammerschmidt M, Friedman TB, Riazuddin S, Leal SM, Ahmad J, Kubisch C., Free PMC Article | 04/2/2011 |
| Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Rose JE, Behm FM, Drgon T, Johnson C, Uhl GR., Free PMC Article | 06/30/2010 |