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Items: 1 to 20 of 43

1.
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
AbstractArticlePDF–577K
2.
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
AbstractArticlePDF–23M
3.
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
AbstractArticlePDF–2.0M
4.
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
AbstractArticlePDF–2.3M
5.
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
AbstractArticlePDF–1.9M
6.
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
AbstractArticlePDF–3.0M
7.
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
AbstractArticlePDF–1.1M
8.
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
AbstractArticlePDF–980K
9.
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
AbstractArticlePDF–2.2M
10.
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
AbstractArticlePDF–3.8M
11.
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
AbstractArticlePDF–3.4M
12.
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
AbstractArticlePDF–1022K
13.
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
AbstractArticlePDF–3.4M
14.
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
AbstractArticlePDF–1.3M
15.
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
AbstractArticlePDF–513K
16.
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
AbstractArticlePDF–1.6M
17.
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
PMCID:
PMC6260760
AbstractArticlePDF–1.7M
18.
Histone Interaction Landscapes Visualized by Crosslinking Mass Spectrometry in Intact Cell Nuclei
Domenico Fasci, Hugo van Ingen, Richard A. Scheltema, Albert J. R. Heck
Mol Cell Proteomics. 2018 Oct; 17(10): 2018–2033. Published online 2018 Jul 18. doi: 10.1074/mcp.RA118.000924
PMCID:
PMC6166682
AbstractArticlePDF–3.8M
19.
FerA is a Membrane-Associating Four-Helix Bundle Domain in the Ferlin Family of Membrane-Fusion Proteins
Faraz M. Harsini, Sukanya Chebrolu, Kerry L. Fuson, Mark A. White, Anne M. Rice, R. Bryan Sutton
Sci Rep. 2018; 8: 10949. Published online 2018 Jul 19. doi: 10.1038/s41598-018-29184-1
PMCID:
PMC6053371
AbstractArticlePDF–2.4M
20.
Recurrent variants in OTOF are significant contributors to prelingual nonsydromic hearing loss in Saudi patients
Naif A M Almontashiri, Abdulrahman Alswaid, Andrea Oza, Khalid A Al-Mazrou, Omnia Elrehim, Ahmad Abou Tayoun, Heidi L Rehm, Sami S Amr
Genet Med. 2018 May; 20(5): 536–544. Published online 2017 Oct 19. doi: 10.1038/gim.2017.143
PMCID:
PMC5929117
AbstractArticlePDF–467K

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