PMC Articles for MedGen (Select 322983) - PMC

Jan-Philipp Bodenbender, Valerio Marino, Julia Philipp, Anke Tropitzsch, Christoph Kernstock, Katarina Stingl, Melanie Kempf, Tobias B. Haack, Theresia Zuleger, Pascale Mazzola, Susanne Kohl, Nicole Weisschuh, Daniele Dell’Orco, Laura Kühlewein

Sci Rep. 2024; 14: 10551. Published online 2024 May 8. doi: 10.1038/s41598-024-61019-0

PMCID:: PMC11078972

Abstract Article PDF–2.3M

Select item 110340797.

Genetic and phenotypic analysis of 225 Chinese children with developmental delay and/or intellectual disability using whole-exome sequencing

Heqian Ma, Lina Zhu, Xiao Yang, Meng Ao, Shunxiang Zhang, Meizhen Guo, Xuelin Dai, Xiuwei Ma, Xiaoying Zhang

BMC Genomics. 2024; 25: 391. Published online 2024 Apr 22. doi: 10.1186/s12864-024-10279-1

PMCID:: PMC11034079

Abstract Article PDF–2.5M

Select item 109535638.

AAV‐Mediated Gene Therapy Restores Hearing in Patients with DFNB9 Deafness

Jieyu Qi, Fangzhi Tan, Liyan Zhang, Ling Lu, Shanzhong Zhang, Yabo Zhai, Yicheng Lu, Xiaoyun Qian, WenXiu Dong, Yinyi Zhou, Ziyu Zhang, Xuehan Yang, Lulu Jiang, Chaorong Yu, Jiancheng Liu, Tian Chen, Lianqiu Wu, Chang Tan, Sijie Sun, Huaien Song, Yilai Shu, Lei Xu, Xia Gao, Huawei Li, Renjie Chai

Adv Sci (Weinh) 2024 Mar; 11(11): 2306788. Published online 2024 Jan 8. doi: 10.1002/advs.202306788

PMCID:: PMC10953563

Abstract Article PDF–4.1M

Select item 108958709.

Hearing Loss Among Families with 2 and More Affected Members in Golestan Province, Iran: A Cross-Sectional Study of 320 Families

Zainab M. Al Sudani, Teymoor Khosravi, Morteza Oladnabi

J Int Adv Otol. 2024 Jan; 20(1): 44–49. Published online 2024 Jan 1. doi: 10.5152/iao.2024.231214

PMCID:: PMC10895870

Abstract Article PDF–2.9M

Select item 1086446210.

Altered binaural hearing in pre-ataxic and ataxic mutation carriers of spinocerebellar ataxia type 3

Heike Jacobi, Martin Andermann, Jennifer Faber, Felicitas Baumann, André Rupp

Cerebellum. 2024; 23(1): 172–180. Published online 2023 Jan 30. doi: 10.1007/s12311-023-01519-3

PMCID:: PMC10864462

Abstract Article PDF–1.1M

Select item 1085807611.

The human OPA1^delTTAG mutation induces adult onset and progressive auditory neuropathy in mice

Corentin Affortit, Carolanne Coyat, Anissa Rym Saidia, Jean-Charles Ceccato, Majida Charif, Emmanuelle Sarzi, Frédéric Flamant, Romain Guyot, Chantal Cazevieille, Jean-Luc Puel, Guy Lenaers, Jing Wang

Cell Mol Life Sci. 2024 Dec; 81(1): 80. Published online 2024 Feb 9. doi: 10.1007/s00018-024-05115-4

PMCID:: PMC10858076

Abstract Article PDF–15M

Select item 1081591312.

KMT2D Deficiency Causes Sensorineural Hearing Loss in Mice and Humans

Allison J. Kalinousky, Teresa R. Luperchio, Katrina M. Schrode, Jacqueline R. Harris, Li Zhang, Valerie B. DeLeon, Jill A. Fahrner, Amanda M. Lauer, Hans T. Bjornsson

Genes (Basel) 2024 Jan; 15(1): 48. Published online 2023 Dec 28. doi: 10.3390/genes15010048

PMCID:: PMC10815913

Abstract Article PDF–1.9M

Select item 1076759813.

Hearing characteristics and otoradiological abnormalities in three patients with novel pathogenic variants of KMT2D‐related Kabuki syndrome

Zhoushu Zheng, Lu Ding, Meihong Wang, Yinghui Zhang, Yihui Yang, Ming Tang, Jun Xu, Liangjiong Wang, Junhua Wu, Haibo Li

Mol Genet Genomic Med. 2024 Jan; 12(1): e2306. Published online 2023 Nov 3. doi: 10.1002/mgg3.2306

PMCID:: PMC10767598

Abstract Article PDF–1.3M

Select item 1075693214.

SMARCA4 mutation causes human otosclerosis and a similar phenotype in mice

Max Drabkin, Matan M. Jean, Yael Noy, Daniel Halperin, Yuval Yogev, Ohad Wormser, Regina Proskorovsky-Ohayon, Vadim Dolgin, Noam Levaot, Vlad Brumfeld, Shira Ovadia, Mor Kishner, Udi Kazenell, Karen B. Avraham, Ilan Shelef, Ohad S. Birk

J Med Genet. Author manuscript; available in PMC 2024 Feb 16.

Published in final edited form as: J Med Genet. 2024 Jan 19; 61(2): 117–124. Published online 2024 Jan 19. doi: 10.1136/jmg-2023-109264

PMCID:: PMC10756932

Abstract Article PDF–923K

Select item 1074895115.

Identification of a novel compound heterozygous pathogenic variant in MYO7A causing Usher syndrome type IB in a Chinese patient: a case report

Ya’nan Zhang, Xinyi Guo, Ling Hao, Meihui Tian, Yuan Ma, Yong Tang

J Int Med Res. 2023 Dec; 51(12): 03000605231218924. Published online 2023 Dec 23. doi: 10.1177/03000605231218924

PMCID:: PMC10748951

Abstract Article PDF–1.1M

Select item 1070061016.

Fatty acid binding protein type 7 deficiency preserves auditory function in noise-exposed mice

Jun Suzuki, Tomotaka Hemmi, Masamitsu Maekawa, Masahiro Watanabe, Hitoshi Inada, Hiroyuki Ikushima, Tetsuya Oishi, Ryoukichi Ikeda, Yohei Honkura, Yoshiteru Kagawa, Tetsuaki Kawase, Nariyasu Mano, Yuji Owada, Noriko Osumi, Yukio Katori

Sci Rep. 2023; 13: 21494. Published online 2023 Dec 6. doi: 10.1038/s41598-023-48702-4

PMCID:: PMC10700610

Abstract Article PDF–8.4M

Select item 1065232717.

Degradation of cochlear Connexin26 accelerate the development of age‐related hearing loss

Kai Xu, Sen Chen, Xue Bai, Le Xie, Yue Qiu, Xiao‐zhou Liu, Xiao‐hui Wang, Wei‐jia Kong, Yu Sun

Aging Cell. 2023 Nov; 22(11): e13973. Published online 2023 Sep 8. doi: 10.1111/acel.13973

PMCID:: PMC10652327

Abstract Article PDF–19M

Select item 1062667518.

Axonal polyneuropathy and ataxia in children: consider Perrault Syndrome, a case report

Hannah E. Munson, Lenika De Simone, Abigail Schwaede, Avanti Bhatia, Divakar S. Mithal, Nancy Young, Nancy Kuntz, Vamshi K. Rao

BMC Med Genomics. 2023; 16: 278. Published online 2023 Nov 6. doi: 10.1186/s12920-023-01599-4

PMCID:: PMC10626675

Abstract Article PDF–809K

Select item 1045044819.

Reversal of an existing hearing loss by gene activation in Spns2 mutant mice

Elisa Martelletti, Neil J. Ingham, Karen P. Steel

Proc Natl Acad Sci U S A. 2023 Aug 22; 120(34): e2307355120. Published online 2023 Aug 8. doi: 10.1073/pnas.2307355120

PMCID:: PMC10450448

Abstract Article PDF–11M

Select item 1039342320.

Spontaneous allelic variant in deafness–blindness gene Ush1g resulting in an expanded phenotype

Vladimir Vartanian, Jocelyn F. Krey, Paroma Chatterjee, Allison Curtis, Makayla Six, Sean P. M. Rice, Sherri M. Jones, Harini Sampath, Charles N. Allen, Renee C. Ryals, R. Stephen Lloyd, Peter G. Barr‐Gillespie

Genes Brain Behav. 2023 Aug; 22(4): e12849. Published online 2023 Jun 16. doi: 10.1111/gbb.12849

PMCID:: PMC10393423

Abstract Article PDF–5.0M

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