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Select item 103619701.

Phenotypic and molecular basis of SIX1 variants linked to non-syndromic deafness and atypical branchio-otic syndrome in South Korea

Somin Lee, Yejin Yun, Ju Hyuen Cha, Jin Hee Han, Dae Hee Lee, Jae-Jin Song, Moo Kyun Park, Jun Ho Lee, Seung Ha Oh, Byung Yoon Choi, Sang-Yeon Lee

Sci Rep. 2023; 13: 11776. Published online 2023 Jul 21. doi: 10.1038/s41598-023-38909-w

PMCID:: PMC10361970

Article PDF–2.6M

Select item 100882832.

WFS1 autosomal dominant variants linked with hearing loss: update on structural analysis and cochlear implant outcome

Hui Dong Lim, So Min Lee, Ye Jin Yun, Dae Hee Lee, Jun Ho Lee, Seung-Ha Oh, Sang-Yeon Lee

BMC Med Genomics. 2023; 16: 79. Published online 2023 Apr 11. doi: 10.1186/s12920-023-01506-x

PMCID:: PMC10088283

Article PDF–4.1M

Select item 96711873.

Novel Transthyretin Gene Mutation in Familial Amyloid Neuropathy in India: Case

Shalesh Rohatgi, Satish Nirhale, Poonkodi Manohar, Prajwal Rao, Pravin Naphade, Furqan Mohd. Akram Khan, Dhaval Dave, V.V. Sravya Kotaru, Sahil Gupta, Advait Gitay, Prashant Dubey

Ann Afr Med. 2022 Jul-Sep; 21(3): 296–298. Published online 2022 Sep 26. doi: 10.4103/aam.aam_260_21

PMCID:: PMC9671187

Article

Select item 96290614.

OSBPL2 mutations impair autophagy and lead to hearing loss, potentially remedied by rapamycin

Young Ik Koh, Kyung Seok Oh, Jung Ah Kim, Byunghwa Noh, Hye Ji Choi, Sun Young Joo, John Hoon Rim, Hye-Youn Kim, Dong Yun Kim, Seyoung Yu, Da Hye Kim, Sang-Guk Lee, Jinsei Jung, Jae Young Choi, Heon Yung Gee

Autophagy. 2022; 18(11): 2593–2614. Published online 2022 Mar 6. doi: 10.1080/15548627.2022.2040891

PMCID:: PMC9629061

Article PDF–8.5M

Select item 95189925.

DFNA5 inhibits colorectal cancer proliferation by suppressing the mTORC1/2 signaling pathways via upregulation of DEPTOR

Jing Guo, Junhui Yu, Mingchao Mu, Zilu Chen, Zhengshui Xu, Chenye Zhao, Kui Yang, Jianbao Zheng, Xiao Qin, Wei Zhao, Xuejun Sun

Cell Cycle. 2022; 21(20): 2165–2178. Published online 2022 Aug 3. doi: 10.1080/15384101.2022.2088570

PMCID:: PMC9518992

Article PDF–3.8M

Select item 93492876.

Mild MDPL in a patient with a novel de novo missense variant in the Cys-B region of POLD1

Maya Chopra, Richard Caswell, Giulia Barcia, Sophie Rondeau, Laurence Jonard, Patrick Nitchké, Daniel Amram, Marc-Lionel Bellaiche, Veronique Abadie, Marine Parodi, Francoise Denoyelle, Andrew Hattersley, Christine Bole, Stanislas Lyonnet, Sandrine Marlin

Eur J Hum Genet. 2022 Aug; 30(8): 960–966. Published online 2022 May 20. doi: 10.1038/s41431-022-01118-6

PMCID:: PMC9349287

Article PDF–1.4M

Select item 90070947.

Diagnostic Yield of Targeted Hearing Loss Gene Panel Sequencing in a Large German Cohort With a Balanced Age Distribution from a Single Diagnostic Center: An Eight-year Study

Anke Tropitzsch, Thore Schade-Mann, Philipp Gamerdinger, Saskia Dofek, Björn Schulte, Martin Schulze, Florian Battke, Sarah Fehr, Saskia Biskup, Andreas Heyd, Marcus Müller, Hubert Löwenheim, Barbara Vona, Martin Holderried

Ear Hear. 2022 May-Jun; 43(3): 1049–1066. Published online 2021 Nov 8. doi: 10.1097/AUD.0000000000001159

PMCID:: PMC9007094

Article PDF–1.3M

Select item 89240118.

Kyung Seok Oh, Daniel Walls, Sun Young Joo, Jung Ah Kim, Jee Eun Yoo, Young Ik Koh, Da Hye Kim, John Hoon Rim, Hye Ji Choi, Hye-Youn Kim, Seyoung Yu, Richard J. Smith, Jae Young Choi, Heon Yung Gee, Jinsei Jung

Hum Genet. Author manuscript; available in PMC 2023 Apr 1.

Published in final edited form as: Hum Genet. 2022 Apr; 141(3-4): 889–901. Published online 2021 Sep 16. doi: 10.1007/s00439-021-02368-y

PMCID:: PMC8924011

Article PDF–1.4M

Select item 88546269.

Genotype–phenotype correlations for COL4A3–COL4A5 variants resulting in Gly substitutions in Alport syndrome

Joel T. Gibson, Mary Huang, Marina Shenelli Croos Dabrera, Krushnam Shukla, Hansjörg Rothe, Pascale Hilbert, Constantinos Deltas, Helen Storey, Beata S. Lipska-Ziętkiewicz, Melanie M. Y. Chan, Omid Sadeghi-Alavijeh, Daniel P. Gale, Genomics England Research Consortium, Agne Cerkauskaite, Judy Savige

Sci Rep. 2022; 12: 2722. Published online 2022 Feb 17. doi: 10.1038/s41598-022-06525-9

PMCID:: PMC8854626

Article PDF–1.4M

Select item 833309210.

Novel KCNQ4 variants in different functional domains confer genotype- and mechanism-based therapeutics in patients with nonsyndromic hearing loss

Sang-Yeon Lee, Hyun Been Choi, Mina Park, Il Soon Choi, Jieun An, Ami Kim, Eunku Kim, Nahyun Kim, Jin Hee Han, Min young Kim, Seung min Lee, Doo-Yi Oh, Bong Jik Kim, Nayoung Yi, Nayoung, K. D. Kim, Chung Lee, Woong-Yang Park, Young Ik Koh, Heon Yung Gee, Hyun Sung Cho, Tong Mook Kang, Byung Yoon Choi

Exp Mol Med. 2021 Jul; 53(7): 1192–1204. Published online 2021 Jul 28. doi: 10.1038/s12276-021-00653-4

PMCID:: PMC8333092

Article PDF–2.7M

Select item 817084311.

Generation and characterization of a P2rx2 V60L mouse model for DFNA41

Xiaoya Chen, Clemer Abad, Zheng-yi Chen, Juan I Young, Channabasavaiah B Gurumurthy, Katherina Walz, Xue Zhong Liu

Hum Mol Genet. 2021 Jun 1; 30(11): 985–995. Published online 2021 Mar 31. doi: 10.1093/hmg/ddab077

PMCID:: PMC8170843

Article PDF–1.3M

Select item 805928712.

A novel mutation of WFS1 gene leading to increase ER stress and cell apoptosis is associated an autosomal dominant form of Wolfram syndrome type 1

Yingying Gong, Li Xiong, Xiujun Li, Lei Su, Haipeng Xiao

BMC Endocr Disord. 2021; 21: 76. Published online 2021 Apr 21. doi: 10.1186/s12902-021-00748-z

PMCID:: PMC8059287

Article PDF–2.4M

Select item 738204813.

A novel MYH14 mutation in a Chinese family with autosomal dominant nonsyndromic hearing loss

Mingming Wang, Yicui Zhou, Fengguo Zhang, Zhaomin Fan, Xiaohui Bai, Haibo Wang

BMC Med Genet. 2020; 21: 154. Published online 2020 Jul 25. doi: 10.1186/s12881-020-01086-y

PMCID:: PMC7382048

Article PDF–1.8M

Select item 731253614.

DFNA5 (GSDME) c.991-15_991-13delTTC: Founder Mutation or Mutational Hotspot?

Kevin T. Booth, Hela Azaiez, Richard J. H. Smith

Int J Mol Sci. 2020 Jun; 21(11): 3951. Published online 2020 May 31. doi: 10.3390/ijms21113951

PMCID:: PMC7312536

Article PDF–1.3M

Select item 711065415.

Middle-age-onset cerebellar ataxia caused by a homozygous TWNK variant: a case report

Kodai Kume, Hiroyuki Morino, Ryosuke Miyamoto, Yukiko Matsuda, Ryosuke Ohsawa, Yuhei Kanaya, Yui Tada, Takashi Kurashige, Hideshi Kawakami

BMC Med Genet. 2020; 21: 68. Published online 2020 Mar 31. doi: 10.1186/s12881-020-01002-4

PMCID:: PMC7110654

Article PDF–727K

Select item 705299316.

Cataplexy and ataxia: red flags for the diagnosis of DNA methyltransferase 1 mutation

Emanuela Postiglione, Elena Antelmi, Fabio Pizza, Stefano Vandi, Chiara La Morgia, Valerio Carelli, Stefania Nassetti, Marco Seri, Giuseppe Plazzi

J Clin Sleep Med. 2020 Jan 15; 16(1): 143–147. Published online 2020 Jan 15. doi: 10.5664/jcsm.8140

PMCID:: PMC7052993

Article PDF–632K

Select item 704665917.

Prevalence and clinical features of hearing loss caused by EYA4 variants

Jun Shinagawa, Hideaki Moteki, Shin-ya Nishio, Kenji Ohyama, Koshi Otsuki, Satoshi Iwasaki, Shin Masuda, Chie Oshikawa, Yumi Ohta, Yasuhiro Arai, Masahiro Takahashi, Naoko Sakuma, Satoko Abe, Yuika Sakurai, Hirofumi Sakaguchi, Takashi Ishino, Natsumi Uehara, Shin-ichi Usami

Sci Rep. 2020; 10: 3662. Published online 2020 Feb 27. doi: 10.1038/s41598-020-60259-0

PMCID:: PMC7046659

Article PDF–1.7M

Select item 680265018.

Rare KCNQ4 variants found in public databases underlie impaired channel activity that may contribute to hearing impairment

Jinsei Jung, Haiyue Lin, Young Ik Koh, Kunhi Ryu, Joon Suk Lee, John Hoon Rim, Hye Ji Choi, Hak Joon Lee, Hye-Youn Kim, Seyoung Yu, Hyunsoo Jin, Ji Hyun Lee, Min Goo Lee, Wan Namkung, Jae Young Choi, Heon Yung Gee

Exp Mol Med. 2019 Aug; 51(8): 99. Published online 2019 Aug 21. doi: 10.1038/s12276-019-0300-9

PMCID:: PMC6802650

Article PDF–3.4M

Select item 680227619.

Allele-specific gene editing prevents deafness in a model of dominant progressive hearing loss

Bence György, Carl Nist-Lund, Bifeng Pan, Yukako Asai, K. Domenica Karavitaki, Benjamin Kleinstiver, Sara P. Garcia, Mikołaj P. Zaborowski, Paola Solanes, Sofia Spataro, Bernard Schneider, J. Keith Joung, Gwenaelle S.G. Geleoc, Jeffrey R. Holt, David P. Corey

Nat Med. Author manuscript; available in PMC 2020 Jan 3.

Published in final edited form as: Nat Med. 2019 Jul; 25(7): 1123–1130. Published online 2019 Jul 3. doi: 10.1038/s41591-019-0500-9

PMCID:: PMC6802276

Article PDF–4.2M

Select item 643157820.

Splice-altering variant in COL11A1 as a cause of nonsyndromic hearing loss DFNA37

Kevin T. Booth, James W. Askew, Zohreh Talebizadeh, Patrick L. M. Huygen, James Eudy, Judith Kenyon, Denise Hoover, Michael S. Hildebrand, Katherine R. Smith, Melanie Bahlo, William J. Kimberling, Richard J. H. Smith, Hela Azaiez, Shelley D. Smith

Genet Med. 2019; 21(4): 948–954. Published online 2018 Sep 24. doi: 10.1038/s41436-018-0285-0