| Oncofusion-driven de novo enhancer assembly promotes malignancy in Ewing sarcoma via aberrant expression of the stereociliary protein LOXHD1. | Oncofusion-driven de novo enhancer assembly promotes malignancy in Ewing sarcoma via aberrant expression of the stereociliary protein LOXHD1.
Deng Q, Natesan R, Cidre-Aranaz F, Arif S, Liu Y, Rasool RU, Wang P, Mitchell-Velasquez E, Das CK, Vinca E, Cramer Z, Grohar PJ, Chou M, Kumar-Sinha C, Weber K, Eisinger-Mathason TSK, Grillet N, Grünewald TGP, Asangani IA., Free PMC Article | 07/2/2022 |
| Rising of LOXHD1 as a signature causative gene of down-sloping hearing loss in people in their teens and 20s. | Rising of LOXHD1 as a signature causative gene of down-sloping hearing loss in people in their teens and 20s.
Kim BJ, Jeon HW, Jeon W, Han JH, Oh J, Yi N, Kim MY, Kim M, Kim JN, Kim BH, Hyon JY, Kim D, Koo JW, Oh DY, Choi BY. | 04/30/2022 |
| Recessive LOXHD1 variants cause a prelingual down-sloping hearing loss: genotype-phenotype correlation and three additional children with novel variants. | Recessive LOXHD1 variants cause a prelingual down-sloping hearing loss: genotype-phenotype correlation and three additional children with novel variants.
Yu S, Chen WX, Zhang YF, Chen C, Ni Y, Duan B, Wang H, Xu ZM. | 09/4/2021 |
| Five Novel Mutations in LOXHD1 Gene Were Identified to Cause Autosomal Recessive Nonsyndromic Hearing Loss in Four Chinese Families. | Five Novel Mutations in LOXHD1 Gene Were Identified to Cause Autosomal Recessive Nonsyndromic Hearing Loss in Four Chinese Families.
Bai X, Zhang C, Zhang F, Xiao Y, Jin Y, Wang H, Xu L., Free PMC Article | 12/12/2020 |
| The LOXHD1 variant c.1828G>A present in the wife had not previously been reported in individuals with congenital hearing loss. | A novel LOXHD1 variant in a Chinese couple with hearing loss.
Zhang C, Hao S, Liu Y, Zhou B, Liu F, Zheng L, Ma P, Liu Q, Lin X, Yan Y, Zhang Q., Free PMC Article | 05/23/2020 |
| By analyzing the largest number of patients with LOXHD1 related hearing loss yet to be reported, we determined several characteristics of LOXHD1 variations, and recurrent variants | Mutational Spectrum and Clinical Features of Patients with LOXHD1 Variants Identified in an 8074 Hearing Loss Patient Cohort.
Maekawa K, Nishio SY, Abe S, Goto SI, Honkura Y, Iwasaki S, Kanda Y, Kobayashi Y, Oka SI, Okami M, Oshikawa C, Sakuma N, Sano H, Shirakura M, Uehara N, Usami SI., Free PMC Article | 03/21/2020 |
| We hypothesize that environmental factors or genetic modifiers are responsible for phenotypic differences. No association was found between heterozygous LOXHD1 variants and the occurrence of Fuchs corneal dystrophy in carriers. | Further audiovestibular characterization of DFNB77, caused by deleterious variants in LOXHD1, and investigation into the involvement of Fuchs corneal dystrophy.
Wesdorp M, Schreur V, Beynon AJ, Oostrik J, van de Kamp JM, Elting MW, van den Boogaard MH, Feenstra I, Admiraal RJC, Kunst HPM, Hoyng CB, Kremer H, Yntema HG, Pennings RJE, Schraders M. | 11/16/2019 |
| Results demonstrated that a novel missense variant, LOXHD1: c.5948C > T, was associated with non-progressive Deafness, autosomal recessive 77 in a Chinese family under consanguineous marriage. | Whole-exome sequencing identifies a novel missense variant within LOXHD1 causing rare hearing loss in a Chinese family.
Shen N, Wang T, Li D, Liu A, Lu Y., Free PMC Article | 08/24/2019 |
| While mutations in ZEB1 contributed to 2% of the late-onset Fuchs' endothelial corneal dystrophy (FECD) cases, the exact role of the two variant of uncertain significance (VUS) identified in ZEB1 and LOXHD1 in FECD pathogenesis needs to be studied. | Analysis of candidate genes ZEB1 and LOXHD1 in late-onset Fuchs' endothelial corneal dystrophy in an Indian cohort.
Rao BS, Ansar S, Arokiasamy T, Sudhir RR, Umashankar V, Rajagopal R, Soumittra N. | 03/30/2019 |
| We report a Japanese family carrying compound heterozygotes of truncating and nontruncating mutations in LOXHD1 identified by targeted NGS analysis. The fact of lower degree of hearing impairment in our cases than previously reported and the molecular modeling of the missense mutant provide insight to the genotype-phenotype correlation of DFNB77. | Clinical characteristics of a Japanese family with hearing loss accompanied by compound heterozygous mutations in LOXHD1.
Minami SB, Mutai H, Namba K, Sakamoto H, Matsunaga T. | 03/4/2017 |
| Analysis of SLC4A11, ZEB1, LOXHD1, COL8A2 and TCF4 gene sequences in a multi-generational family with late-onset Fuchs corneal dystrophy found no evidence for found polymorophisms causing the disease in this specific pedigree. | Analysis of SLC4A11, ZEB1, LOXHD1, COL8A2 and TCF4 gene sequences in a multi-generational family with late-onset Fuchs corneal dystrophy.
Tang H, Zhang W, Yan XM, Wang LP, Dong H, Shou T, Lei H, Guo Q., Free PMC Article | 03/4/2017 |
| Mutations in LOXHD1 are identified in a Japanese population with sensorineural hearing loss. | Mutations in LOXHD1 gene cause various types and severities of hearing loss.
Mori K, Moteki H, Kobayashi Y, Azaiez H, Booth KT, Nishio SY, Sato H, Smith RJ, Usami S., Free PMC Article | 08/22/2015 |
| Authors identified a missense change in LOXHD1. Data implicate rare alleles in LOXHD1 in the pathogenesis of FCD and highlight how different mutations in the same locus can potentially produce diverse phenotypes. | Mutations in LOXHD1, a recessive-deafness locus, cause dominant late-onset Fuchs corneal dystrophy.
Riazuddin SA, Parker DS, McGlumphy EJ, Oh EC, Iliff BW, Schmedt T, Jurkunas U, Schleif R, Katsanis N, Gottsch JD., Free PMC Article | 07/14/2012 |
| This is the second reported mutation in the LOXHD1 gene, and its homozygous presence in two of 39 Ashkenazi Jewish families with congenital ARNSHL suggest that it could account for some 5% of the familial cases in this community | A deleterious mutation in the LOXHD1 gene causes autosomal recessive hearing loss in Ashkenazi Jews.
Edvardson S, Jalas C, Shaag A, Zenvirt S, Landau C, Lerer I, Elpeleg O, Edvardson S, Jalas C, Shaag A, Zenvirt S, Landau C, Lerer I, Elpeleg O. | 08/6/2011 |
| A founder mutation R1572X in the LOXHD1 causes autosomal recessive hearing loss in Ashkenazi Jews | A deleterious mutation in the LOXHD1 gene causes autosomal recessive hearing loss in Ashkenazi Jews.
Edvardson S, Jalas C, Shaag A, Zenvirt S, Landau C, Lerer I, Elpeleg O, Edvardson S, Jalas C, Shaag A, Zenvirt S, Landau C, Lerer I, Elpeleg O. | 04/19/2011 |
| 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 |
| A mutation in LOXHD1, which causes DFNB77, a progressive form of autosomal-recessive nonsyndromic hearing loss (ARNSHL), was identified. | Mutations in LOXHD1, an evolutionarily conserved stereociliary protein, disrupt hair cell function in mice and cause progressive hearing loss in humans.
Grillet N, Schwander M, Hildebrand MS, Sczaniecka A, Kolatkar A, Velasco J, Webster JA, Kahrizi K, Najmabadi H, Kimberling WJ, Stephan D, Bahlo M, Wiltshire T, Tarantino LM, Kuhn P, Smith RJ, Müller U., Free PMC Article | 01/21/2010 |