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Select item 107434021.

Predicting the Impact of OTOF Gene Missense Variants on Auditory Neuropathy Spectrum Disorder

Dmitry A. Dmitriev, Boris V. Shilov, Michail M. Polunin, Anton D. Zadorozhny, Alexey A. Lagunin

Int J Mol Sci. 2023 Dec; 24(24): 17240. Published online 2023 Dec 7. doi: 10.3390/ijms242417240

PMCID:: PMC10743402

Abstract Article PDF–577K

Select item 102374222.

TRIM67 drives tumorigenesis in oligodendrogliomas through Rho GTPase-dependent membrane blebbing

Engin Demirdizen, Ruslan Al-Ali, Ashwin Narayanan, Xueyuan Sun, Julianna Patricia Varga, Bianca Steffl, Manuela Brom, Damir Krunic, Claudia Schmidt, Gabriele Schmidt, Felix Bestvater, Julian Taranda, Şevin Turcan

Neuro Oncol. 2023 Jun; 25(6): 1031–1043. Published online 2022 Nov 22. doi: 10.1093/neuonc/noac233

PMCID:: PMC10237422

Abstract Article PDF–23M

Select item 101868093.

Loss-of-function mutations in MYO15A and OTOF cause non-syndromic hearing loss in two Yemeni families

Maria Asaad, Mona Mahfood, Abdullah Al Mutery, Abdelaziz Tlili

Hum Genomics. 2023; 17: 42. Published online 2023 May 15. doi: 10.1186/s40246-023-00489-1

PMCID:: PMC10186809

Abstract Article PDF–2.0M

Select item 99734424.

Cochlear Synaptopathy due to Mutations in OTOF Gene May Result in Stable Mild Hearing Loss and Severe Impairment of Speech Perception

Rosamaria Santarelli, Pietro Scimemi, Marco Costantini, María Domínguez-Ruiz, Montserrat Rodríguez-Ballesteros, Ignacio del Castillo

Ear Hear. 2021 Nov-Dec; 42(6): 1627–1639. Published online 2021 Apr 27. doi: 10.1097/AUD.0000000000001052

PMCID:: PMC9973442

Abstract Article PDF–2.3M

Select item 94265955.

Membrane Protein OTOF Is a Type I Interferon-Induced Entry Inhibitor of HIV-1 in Macrophages

Haibo Ding, Xiaowei Zhang, Zheming Zhu, Shumei Wang, Ying Xiong, Hong Shang, Guoxin Liang

mBio. 2022 Jul-Aug; 13(4): e01738-22. Published online 2022 Jul 18. doi: 10.1128/mbio.01738-22

PMCID:: PMC9426595

Abstract Article PDF–1.9M

Select item 93485766.

Chr21 protein–protein interactions: enrichment in proteins involved in intellectual disability, autism, and late-onset Alzheimer’s disease

Julia Viard, Yann Loe-Mie, Rachel Daudin, Malik Khelfaoui, Christine Plancon, Anne Boland, Francisco Tejedor, Richard L Huganir, Eunjoon Kim, Makoto Kinoshita, Guofa Liu, Volker Haucke, Thomas Moncion, Eugene Yu, Valérie Hindie, Henri Bléhaut, Clotilde Mircher, Yann Herault, Jean-François Deleuze, Jean-Christophe Rain, Michel Simonneau, Aude-Marie Lepagnol-Bestel

Life Sci Alliance. 2022 Dec; 5(12): e202101205. Published online 2022 Aug 1. doi: 10.26508/lsa.202101205

PMCID:: PMC9348576

Abstract Article PDF–3.0M

Select item 90935897.

The natural history of OTOF-related auditory neuropathy spectrum disorders: a multicenter study

Ryan K. Thorpe, Hela Azaiez, Peina Wu, Qiuju Wang, Lei Xu, Pu Dai, Tao Yang, G. Bradley Schaefer, B. Robert Peters, Kenny H. Chan, Krista S. Schatz, Joann Bodurtha, Nathaniel H. Robin, Yoel Hirsch, Zuhair Abdalla Rahbeeni, Huijun Yuan, Richard J.H. Smith

Hum Genet. Author manuscript; available in PMC 2022 May 11.

Published in final edited form as: Hum Genet. 2022 Apr; 141(3-4): 853–863. Published online 2021 Aug 23. doi: 10.1007/s00439-021-02340-w

PMCID:: PMC9093589

Abstract Article PDF–1.1M

Select item 90349938.

Detailed clinical features and genotype–phenotype correlation in an OTOF-related hearing loss cohort in Japan

Yoh-ichiro Iwasa, Shin-ya Nishio, Hidekane Yoshimura, Akiko Sugaya, Yuko Kataoka, Yukihide Maeda, Yukihiko Kanda, Kyoko Nagai, Yasushi Naito, Hiroshi Yamazaki, Tetsuo Ikezono, Han Matsuda, Masako Nakai, Risa Tona, Yuika Sakurai, Remi Motegi, Hidehiko Takeda, Marina Kobayashi, Chiharu Kihara, Takashi Ishino, Shin-ya Morita, Satoshi Iwasaki, Masahiro Takahashi, Sakiko Furutate, Shin-ichiro Oka, Toshinori Kubota, Yasuhiro Arai, Yumiko Kobayashi, Daisuke Kikuchi, Tomoko Shintani, Noriko Ogasawara, Yohei Honkura, Shuji Izumi, Misako Hyogo, Yuzuru Ninoyu, Mayumi Suematsu, Jun Nakayama, Nana Tsuchihashi, Mayuri Okami, Hideaki Sakata, Hiroshi Yoshihashi, Taisuke Kobayashi, Kozo Kumakawa, Tadao Yoshida, Tomoko Esaki, Shin-ichi Usami

Hum Genet. 2022; 141(3-4): 865–875. Published online 2021 Sep 18. doi: 10.1007/s00439-021-02351-7

Correction in:: Hum Genet. 2022; 141(3-4): 993–995.

PMCID:: PMC9034993

Abstract Article PDF–980K

Select item 81650309.

Dual Proteome-scale Networks Reveal Cell-specific Remodeling of the Human Interactome

Edward L. Huttlin, Raphael J. Bruckner, Jose Navarrete-Perea, Joe R. Cannon, Kurt Baltier, Fana Gebreab, Melanie P. Gygi, Alexandra Thornock, Gabriela Zarraga, Stanley Tam, John Szpyt, Brandon M. Gassaway, Alexandra Panov, Hannah Parzen, Sipei Fu, Arvene Golbazi, Eila Maenpaa, Keegan Stricker, Sanjukta Guha Thakurta, Tian Zhang, Ramin Rad, Joshua Pan, David P. Nusinow, Joao A. Paulo, Devin K. Schweppe, Laura Pontano Vaites, J. Wade Harper, Steven P. Gygi

Cell. Author manuscript; available in PMC 2022 May 27.

Published in final edited form as: Cell. 2021 May 27; 184(11): 3022–3040.e28. Published online 2021 May 6. doi: 10.1016/j.cell.2021.04.011

PMCID:: PMC8165030

Abstract Article PDF–2.2M

Select item 778402610.

A splice-site variant (c.3289-1G>T) in OTOF underlies profound hearing loss in a Pakistani kindred

Ashfaque Ahmed, Meng Wang, Rizwan Khan, Abid Ali Shah, Hui Guo, Sajid Malik, Kun Xia, Zhengmao Hu

BMC Med Genomics. 2021; 14: 2. Published online 2021 Jan 4. doi: 10.1186/s12920-020-00859-x

PMCID:: PMC7784026

Abstract Article PDF–3.8M

Select item 776839011.

The Many Faces of DFNB9: Relating OTOF Variants to Hearing Impairment

Barbara Vona, Aboulfazl Rad, Ellen Reisinger

Genes (Basel) 2020 Dec; 11(12): 1411. Published online 2020 Nov 26. doi: 10.3390/genes11121411

PMCID:: PMC7768390

Abstract Article PDF–3.4M

Select item 688582112.

Auditory Neuropathy Spectrum Disorder due to Two Novel Compound Heterozygous OTOF Mutations in Two Chinese Families

Yue Qiu, Sen Chen, Le Xie, Kai Xu, Yi Lin, Xue Bai, Hui-Min Zhang, Xiao-Zhou Liu, Yuan Jin, Yu Sun, Wei-Jia Kong

Neural Plast. 2019; 2019: 9765276. Published online 2019 Nov 18. doi: 10.1155/2019/9765276

PMCID:: PMC6885821

Abstract Article PDF–1022K

Select item 677072313.

Ferlin Overview: From Membrane to Cancer Biology

Olivier Peulen, Gilles Rademaker, Sandy Anania, Andrei Turtoi, Akeila Bellahcène, Vincent Castronovo

Cells. 2019 Sep; 8(9): 954. Published online 2019 Aug 22. doi: 10.3390/cells8090954

PMCID:: PMC6770723

Abstract Article PDF–3.4M

Select item 668762514.

Identification of novel variants in MYO15A, OTOF, and RDX with hearing loss by next‐generation sequencing

Xuejing Bai, Shiyan Nian, Lei Feng, Qingrong Ruan, Xuan Luo, Mengna Wu, Zefeng Yan

Mol Genet Genomic Med. 2019 Aug; 7(8): e808. Published online 2019 Jun 28. doi: 10.1002/mgg3.808

PMCID:: PMC6687625

Abstract Article PDF–1.3M

Select item 652201715.

OTOF mutation analysis with massively parallel DNA sequencing in 2,265 Japanese sensorineural hearing loss patients

Yoh-ichiro Iwasa, Shin-ya Nishio, Akiko Sugaya, Yuko Kataoka, Yukihiko Kanda, Mirei Taniguchi, Kyoko Nagai, Yasushi Naito, Tetsuo Ikezono, Rie Horie, Yuika Sakurai, Rina Matsuoka, Hidehiko Takeda, Satoko Abe, Chiharu Kihara, Takashi Ishino, Shin-ya Morita, Satoshi Iwasaki, Masahiro Takahashi, Tsukasa Ito, Yasuhiro Arai, Shin-ichi Usami

PLoS One. 2019; 14(5): e0215932. Published online 2019 May 16. doi: 10.1371/journal.pone.0215932

PMCID:: PMC6522017

Abstract Article PDF–513K

Select item 641077416.

Dual AAV-mediated gene therapy restores hearing in a DFNB9 mouse model

Omar Akil, Frank Dyka, Charlotte Calvet, Alice Emptoz, Ghizlene Lahlou, Sylvie Nouaille, Jacques Boutet de Monvel, Jean-Pierre Hardelin, William W. Hauswirth, Paul Avan, Christine Petit, Saaid Safieddine, Lawrence R. Lustig

Proc Natl Acad Sci U S A. 2019 Mar 5; 116(10): 4496–4501. Published online 2019 Feb 19. doi: 10.1073/pnas.1817537116

PMCID:: PMC6410774

Abstract Article PDF–1.6M

Select item 626076017.

Mutational and phenotypic spectrum of OTOF-related auditory neuropathy in Koreans: eliciting reciprocal interaction between bench and clinics

Bong Jik Kim, Jeong Hun Jang, Jin Hee Han, Hye-Rim Park, Doo Yi Oh, Seungmin Lee, Min Young Kim, Ah Reum Kim, Chung Lee, Nayoung K. D. Kim, Woong-Yang Park, Yun-Hoon Choung, Byung Yoon Choi

J Transl Med. 2018; 16: 330. Published online 2018 Nov 27. doi: 10.1186/s12967-018-1708-z