PubMed for id: 412541

Year	Number of Results
1998	1
2003	1
2005	2
2009	1
2011	1
2013	2
2015	2
2016	1
2017	1
2018	2
2019	3
2020	1
2021	2
2022	1
2024	0

1

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. Shen N, et al. BMC Med Genet. 2019 Feb 13;20(1):30. doi: 10.1186/s12881-019-0758-2. BMC Med Genet. 2019. PMID: 30760222 Free PMC article.

2

Loxhd1 Mutations Cause Mechanotransduction Defects in Cochlear Hair Cells.

Trouillet A, Miller KK, George SS, Wang P, Ali NE, Ricci A, Grillet N. Trouillet A, et al. J Neurosci. 2021 Apr 14;41(15):3331-3343. doi: 10.1523/JNEUROSCI.0975-20.2021. Epub 2021 Mar 11. J Neurosci. 2021. PMID: 33707295 Free PMC article.

3

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. Bai X, et al. Biomed Res Int. 2020 Feb 18;2020:1685974. doi: 10.1155/2020/1685974. eCollection 2020. Biomed Res Int. 2020. PMID: 32149082 Free PMC article.

4

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. Zhang C, et al. J Int Med Res. 2019 Dec;47(12):6082-6090. doi: 10.1177/0300060519884197. Epub 2019 Nov 10. J Int Med Res. 2019. PMID: 31709873 Free PMC article.

5

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. Maekawa K, et al. Genes (Basel). 2019 Sep 23;10(10):735. doi: 10.3390/genes10100735. Genes (Basel). 2019. PMID: 31547530 Free PMC article.

6

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. Wesdorp M, et al. Clin Genet. 2018 Aug;94(2):221-231. doi: 10.1111/cge.13368. Epub 2018 Jun 8. Clin Genet. 2018. PMID: 29676012

7

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. Minami SB, et al. Auris Nasus Larynx. 2016 Dec;43(6):609-13. doi: 10.1016/j.anl.2016.02.010. Epub 2016 Mar 10. Auris Nasus Larynx. 2016. PMID: 26973026

8

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. Mori K, et al. Ann Otol Rhinol Laryngol. 2015 May;124 Suppl 1(1 0):135S-41S. doi: 10.1177/0003489415574067. Epub 2015 Mar 19. Ann Otol Rhinol Laryngol. 2015. PMID: 25792669 Free PMC article.

9

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. Grillet N, et al. Am J Hum Genet. 2009 Sep;85(3):328-37. doi: 10.1016/j.ajhg.2009.07.017. Am J Hum Genet. 2009. PMID: 19732867 Free PMC article.

10

Genetic Analysis of the LOXHD1 Gene in Chinese Patients With Non-Syndromic Hearing Loss.

Wang WQ, Gao X, Huang SS, Kang DY, Xu JC, Yang K, Han MY, Zhang X, Yang SY, Yuan YY, Dai P. Wang WQ, et al. Front Genet. 2022 May 27;13:825082. doi: 10.3389/fgene.2022.825082. eCollection 2022. Front Genet. 2022. PMID: 35711932 Free PMC article.

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