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Select item 32453651.

A new autosomal recessive nonsyndromic hearing impairment locus DFNB96 on chromosome 1p36.31-p36.13

Muhammad Ansar, Kwanghyuk Lee, Syed Kamran-ul-Hassan Naqvi, Paula B. Andrade, Sulman Basit, Regie Lyn P. Santos-Cortez, Wasim Ahmad, Suzanne M. Leal

J Hum Genet. Author manuscript; available in PMC 2012 Jun 1.

Published in final edited form as: J Hum Genet. 2011 Dec; 56(12): 866–868. Published online 2011 Sep 22. doi: 10.1038/jhg.2011.110

PMCID:: PMC3245365

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Select item 17358552.

Mutations of ESPN cause autosomal recessive deafness and vestibular dysfunction

S Naz, A Griffith, S Riazuddin, L Hampton, J Battey, S Khan, S Riazuddin, E Wilcox, T Friedman

J Med Genet. 2004 Aug; 41(8): 591–595. doi: 10.1136/jmg.2004.018523

PMCID:: PMC1735855

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Select item 34096963.

Unique Transgenic Animal Model for Hereditary Hearing Loss

Maura Cosetti, David Culang, Sumankrishna Kotla, Peter O’Brien, Daniel F. Eberl, Frances Hannan

Ann Otol Rhinol Laryngol. Author manuscript; available in PMC 2012 Aug 1.

Published in final edited form as: Ann Otol Rhinol Laryngol. 2008 Nov; 117(11): 827–833. doi: 10.1177/000348940811701106

PMCID:: PMC3409696

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Select item 101378844.

Rare Coding Variants in Patients with Non-Syndromic Vestibular Dysfunction

Angelo Augusto M. Sumalde, Melissa A. Scholes, Olivia A. Kalmanson, Elizabeth A. Terhune, Lidia Frejo, Cambria I. Wethey, Pablo Roman-Naranjo, Patrick M. Carry, Samuel P. Gubbels, Jose A. Lopez-Escamez, Nancy Hadley-Miller, Regie Lyn P. Santos-Cortez

Genes (Basel) 2023 Apr; 14(4): 831. Published online 2023 Mar 30. doi: 10.3390/genes14040831

PMCID:: PMC10137884

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Select item 101285595.

前庭水管扩大患者颞骨高分辨率CT和SLC26A4基因及听力损失的相关性研究

赵质彬, 祝园平, 符一飞, 姜鸿彦

Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2022 Oct 3; 36(10): 736–740. Chinese. doi: 10.13201/j.issn.2096-7993.2022.10.002

PMCID:: PMC10128559

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Select item 100922806.

Severe distinct dysautonomia in RFC1‐related disease associated with Parkinsonism

Christopher J. Record, Rana Alnasser Alsukhni, Riccardo Curro, Diego Kaski, John S. Rubin, Huw R. Morris, Andrea Cortese, Valeria Iodice, Mary M. Reilly

J Peripher Nerv Syst. 2022 Dec; 27(4): 311–315. Published online 2022 Oct 7. doi: 10.1111/jns.12515

PMCID:: PMC10092280

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Select item 98467947.

Case report: Late middle-aged features of FAM111A variant, Kenny–Caffey syndrome type 2-suggestive symptoms during a long follow-up

Yuka Ohmachi, Shin Urai, Hironori Bando, Jun Yokoi, Masaaki Yamamoto, Keitaro Kanie, Yuma Motomura, Yasutaka Tsujimoto, Yuriko Sasaki, Yuka Oi, Naoki Yamamoto, Masaki Suzuki, Hiroki Shichi, Genzo Iguchi, Natsumi Uehara, Hidenori Fukuoka, Wataru Ogawa

Front Endocrinol (Lausanne) 2022; 13: 1073173. Published online 2023 Jan 4. doi: 10.3389/fendo.2022.1073173

PMCID:: PMC9846794

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Select item 97400958.

Analysis of SLC26A4, FOXI1, and KCNJ10 Gene Variants in Patients with Incomplete Partition of the Cochlea and Enlarged Vestibular Aqueduct (EVA) Anomalies

Leonid A. Klarov, Vera G. Pshennikova, Georgii P. Romanov, Aleksandra M. Cherdonova, Aisen V. Solovyev, Fedor M. Teryutin, Nikolay V. Luginov, Petr M. Kotlyarov, Nikolay A. Barashkov

Int J Mol Sci. 2022 Dec; 23(23): 15372. Published online 2022 Dec 6. doi: 10.3390/ijms232315372

PMCID:: PMC9740095

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Select item 97018749.

Novel compound heterozygous synonymous and missense variants in the MYO7A gene identified by next‐generation sequencing in a Chinese family with nonsyndromic hearing loss

Yanbao Xiang, Chenyang Xu, Yunzhi Xu, Lili Zhou, Shaohua Tang, Xueqin Xu

J Clin Lab Anal. 2022 Nov; 36(11): e24708. Published online 2022 Sep 26. doi: 10.1002/jcla.24708

PMCID:: PMC9701874

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Select item 964347110.

A mechanistic mathematical model of initiation and malignant transformation in sporadic vestibular schwannoma

Chay Paterson, Ivana Bozic, Miriam J. Smith, Xanthe Hoad, D. Gareth R. Evans

Br J Cancer. 2022 Nov 9; 127(10): 1843–1857. Published online 2022 Sep 12. doi: 10.1038/s41416-022-01955-8

PMCID:: PMC9643471

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Select item 960445211.

Emerging Roles of RNA-Binding Proteins in Inner Ear Hair Cell Development and Regeneration

De-Li Shi, Xiao-Ning Cheng, Audrey Saquet, Raphaëlle Grifone

Int J Mol Sci. 2022 Oct; 23(20): 12393. Published online 2022 Oct 16. doi: 10.3390/ijms232012393

PMCID:: PMC9604452

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Select item 956482312.

The conductance and organization of the TMC1-containing mechanotransducer channel complex in auditory hair cells

Robert Fettiplace, David N. Furness, Maryline Beurg

Proc Natl Acad Sci U S A. 2022 Oct 11; 119(41): e2210849119. Published online 2022 Oct 3. doi: 10.1073/pnas.2210849119

PMCID:: PMC9564823

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Select item 955113313.

Identification of novel compound heterozygous mutations of the MYO15A gene with autosomal recessive non‐syndromic hearing loss

Luming Wang, Yue Zhang, Qiuxia Xue, Pinghua Huang, Xiaodan Liu

J Clin Lab Anal. 2022 Oct; 36(10): e24653. Published online 2022 Aug 10. doi: 10.1002/jcla.24653

PMCID:: PMC9551133

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Select item 924594414.

Motor neuron involvement expands the neuropathological phenotype of late‐onset ataxia in RFC1 mutation (CANVAS)

David Reyes‐Leiva, Iban Aldecoa, Ellen Gelpi, Ricard Rojas‐García

Brain Pathol. 2022 Jul; 32(4): e13051. Published online 2022 Jan 9. doi: 10.1111/bpa.13051

PMCID:: PMC9245944

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Select item 916192115.

Sulforaphane alleviates hypoxic vestibular vertigo (HVV) by increasing NO production via upregulating the expression of NRF2

Liyuan Zhou, Changchen Hu, Yujun Li, Binquan Wang

Bioengineered. 2022; 13(4): 10351–10361. Published online 2022 Apr 20. doi: 10.1080/21655979.2022.2030592

PMCID:: PMC9161921

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Select item 903498116.

Prevalence and clinical features of autosomal dominant and recessive TMC1-associated hearing loss

Shin-ya Nishio, Shin-ichi Usami

Hum Genet. 2022; 141(3-4): 929–937. Published online 2021 Sep 14. doi: 10.1007/s00439-021-02364-2

PMCID:: PMC9034981

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Select item 901391217.

Gut Microbiome and Metabolome Changes in Mice With Acute Vestibular Deficit

Feitian Li, Yisi Feng, Hongyan Liu, Dedi Kong, Chi-Yao Hsueh, Xunbei Shi, Qianru Wu, Wei Li, Jing Wang, Yibo Zhang, Chunfu Dai

Front Cell Infect Microbiol. 2022; 12: 821780. Published online 2022 Apr 4. doi: 10.3389/fcimb.2022.821780

PMCID:: PMC9013912

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Select item 892863018.

Identification and characterisation of spontaneous mutations causing deafness from a targeted knockout programme

Morag A. Lewis, Neil J. Ingham, Jing Chen, Selina Pearson, Francesca Di Domenico, Sohinder Rekhi, Rochelle Allen, Matthew Drake, Annelore Willaert, Victoria Rook, Johanna Pass, Thomas Keane, David J. Adams, Abigail S. Tucker, Jacqueline K. White, Karen P. Steel

BMC Biol. 2022; 20: 67. Published online 2022 Mar 17. doi: 10.1186/s12915-022-01257-8

PMCID:: PMC8928630

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Select item 881167519.

Connexin 26 (GJB2) gene mutations linked with autosomal recessive non-syndromic sensor neural hearing loss in the Iraqi population

Anwar Madlool Al-janabi, Habeeb Shuhaib Ahmmed, Salih Mahdi Al-Khafaji

J Med Life. 2021 Nov-Dec; 14(6): 841–846. doi: 10.25122/jml-2021-0152

PMCID:: PMC8811675

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Select item 876021120.

Clinical heterogeneity of Kabuki syndrome in a cohort of Italian patients and review of the literature

Francesca Di Candia, Paolo Fontana, Pamela Paglia, Mariateresa Falco, Carmen Rosano, Carmelo Piscopo, Gerarda Cappuccio, Maria Anna Siano, Daniele De Brasi, Claudia Mandato, Ilaria De Maggio, Gabriella Maria Squeo, Matteo Della Monica, Gioacchino Scarano, Fortunato Lonardo, Pietro Strisciuglio, Giuseppe Merla, Daniela Melis

Eur J Pediatr. 2022; 181(1): 171–187. Published online 2021 Jul 7. doi: 10.1007/s00431-021-04108-w