| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Yejin Yun, Sang-Yeon Le. Updates on Genetic Hearing Loss: From Diagnosis to Targeted Therapies. Journal of audiology & otology. vol 28. issue 2. 2024-05-02. PMID:38695053. |
strikingly, the successful outcomes of the first-in-human trial of otof gene therapy highlighted its potential in the treatment of various forms of genetic hearing loss. |
2024-05-02 |
2024-05-04 |
human |
| Hongyang Wang, Liping Guan, Xiaonan Wu, Jing Guan, Jin Li, Nan Li, Kaili Wu, Ya Gao, Dan Bing, Jianguo Zhang, Lan Lan, Tao Shi, Danyang Li, Wenjia Wang, Linyi Xie, Fen Xiong, Wei Shi, Lijian Zhao, Dayong Wang, Ye Yin, Qiuju Wan. Clinical and genetic architecture of a large cohort with auditory neuropathy. Human genetics. 2024-03-08. PMID:38456936. |
in conclusion, genes distribution of an, with the most common genes being otof and aifm1, is totally different from other sensorineural hearing loss. |
2024-03-08 |
2024-03-10 |
Not clear |
| Dmitry A Dmitriev, Boris V Shilov, Michail M Polunin, Anton D Zadorozhny, Alexey A Laguni. Predicting the Impact of OTOF Gene Missense Variants on Auditory Neuropathy Spectrum Disorder. International journal of molecular sciences. vol 24. issue 24. 2023-12-23. PMID:38139069. |
auditory neuropathy spectrum disorder (ansd) associated with mutations of the otof gene is one of the common types of sensorineural hearing loss of a hereditary nature. |
2023-12-23 |
2023-12-25 |
Not clear |
| Yuanyuan Xue, Yong Tao, Xing Wang, Xueling Wang, Yilai Shu, Yuanhua Liu, Wen Kang, Sifan Chen, Zhenzhe Cheng, Boou Yan, Yanwei Xie, Lanting Bi, Haitao Jia, Jinhui Li, Qingquan Xiao, Liying Chen, Xuan Yao, Linyu Shi, Hui Yang, Hao W. RNA base editing therapy cures hearing loss induced by OTOF gene mutation. Molecular therapy : the journal of the American Society of Gene Therapy. 2023-11-02. PMID:37915172. |
rna base editing therapy cures hearing loss induced by otof gene mutation. |
2023-11-02 |
2023-11-08 |
Not clear |
| Charles L Ford, William J Riggs, Tera Quigley, Orion P Keifer, Jonathon P Whitton, Vassili Valayannopoulo. The natural history, clinical outcomes, and genotype-phenotype relationship of otoferlin-related hearing loss: a systematic, quantitative literature review. Human genetics. 2023-09-07. PMID:37679651. |
sequence variations in otof, which encodes the calcium-binding protein otoferlin, are responsible for 1-8% of congenital, nonsyndromic hearing loss and are the leading cause of auditory neuropathy spectrum disorders. |
2023-09-07 |
2023-10-07 |
Not clear |
| Charles L Ford, William J Riggs, Tera Quigley, Orion P Keifer, Jonathon P Whitton, Vassili Valayannopoulo. The natural history, clinical outcomes, and genotype-phenotype relationship of otoferlin-related hearing loss: a systematic, quantitative literature review. Human genetics. 2023-09-07. PMID:37679651. |
the natural history of otoferlin-related hearing loss, the relationship between otof genotype and hearing loss phenotype, and the outcomes of clinical practices in patients with this genetic disorder are incompletely understood because most analyses have reported on small numbers of cases with homogeneous otof genotypes. |
2023-09-07 |
2023-10-07 |
Not clear |
| Maria Asaad, Mona Mahfood, Abdullah Al Mutery, Abdelaziz Tlil. Loss-of-function mutations in MYO15A and OTOF cause non-syndromic hearing loss in two Yemeni families. Human genomics. vol 17. issue 1. 2023-05-15. PMID:37189200. |
loss-of-function mutations in myo15a and otof cause non-syndromic hearing loss in two yemeni families. |
2023-05-15 |
2023-08-14 |
Not clear |
| Jie Wu, Zongfu Cao, Yu Su, Yang Wang, Ruikun Cai, Jiyue Chen, Bo Gao, Mingyu Han, Xiaohong Li, DeJun Zhang, Xue Gao, Shasha Huang, Quanfei Huang, Yongyi Yuan, Xu Ma, Pu Da. Molecular diagnose of a large hearing loss population from China by targeted genome sequencing. Journal of human genetics. 2022-08-18. PMID:35982127. |
of the implicated 35 hearing loss genes, three common genes, including slc26a4(278/588), gjb2(207/588), mt-rnr1(19/588), accounted for 85.54% (503/588) of the diagnosed cases, while 32 uncommon hearing loss genes, including myo15a, mitf, otof, pou3f4, ptpn11, etc. |
2022-08-18 |
2023-08-14 |
human |
| Ann E Hickox, Michelle D Valero, James T McLaughlin, Gregory S Robinson, Jennifer A Wellman, Michael J McKenna, William F Sewell, Emmanuel J Simon. Genetic Medicine for Hearing Loss: OTOF as Exemplar. Journal of the American Academy of Audiology. vol 32. issue 10. 2022-05-24. PMID:35609591. |
genetic medicine for hearing loss: otof as exemplar. |
2022-05-24 |
2023-08-13 |
Not clear |
| Ashfaque Ahmed, Meng Wang, Rizwan Khan, Abid Ali Shah, Hui Guo, Sajid Malik, Kun Xia, Zhengmao H. A splice-site variant (c.3289-1G>T) in OTOF underlies profound hearing loss in a Pakistani kindred. BMC medical genomics. vol 14. issue 1. 2021-11-25. PMID:33397372. |
a splice-site variant (c.3289-1g>t) in otof underlies profound hearing loss in a pakistani kindred. |
2021-11-25 |
2023-08-13 |
Not clear |
| 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 Usam. Detailed clinical features and genotype-phenotype correlation in an OTOF-related hearing loss cohort in Japan. Human genetics. 2021-11-03. PMID:34536124. |
mutations in the otof gene are a common cause of hereditary hearing loss and the main cause of auditory neuropathy spectrum disorder (ansd). |
2021-11-03 |
2023-08-13 |
Not clear |
| Rosamaria Santarelli, Pietro Scimemi, Marco Costantini, María Domínguez-Ruiz, Montserrat Rodríguez-Ballesteros, Ignacio Del Castill. Cochlear Synaptopathy due to Mutations in OTOF Gene May Result in Stable Mild Hearing Loss and Severe Impairment of Speech Perception. Ear and hearing. vol 42. issue 6. 2021-10-25. PMID:33908410. |
cochlear synaptopathy due to mutations in otof gene may result in stable mild hearing loss and severe impairment of speech perception. |
2021-10-25 |
2023-08-13 |
Not clear |
| Rosamaria Santarelli, Pietro Scimemi, Marco Costantini, María Domínguez-Ruiz, Montserrat Rodríguez-Ballesteros, Ignacio Del Castill. Cochlear Synaptopathy due to Mutations in OTOF Gene May Result in Stable Mild Hearing Loss and Severe Impairment of Speech Perception. Ear and hearing. vol 42. issue 6. 2021-10-25. PMID:33908410. |
congenital profound hearing loss with preserved cochlear outer hair cell activity (otoacoustic emissions and cochlear microphonic) is the most common phenotype associated with mutations in the otof gene. |
2021-10-25 |
2023-08-13 |
Not clear |
| 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 Smit. The natural history of OTOF-related auditory neuropathy spectrum disorders: a multicenter study. Human genetics. 2021-08-23. PMID:34424407. |
pathogenic variations in the otof gene are a common cause of hearing loss. |
2021-08-23 |
2023-08-13 |
Not clear |
| Sadaf Na. Molecular genetic landscape of hereditary hearing loss in Pakistan. Human genetics. 2021-07-26. PMID:34308486. |
variants of just five genes gjb2, hgf, myo7a, slc26a4, and tmc1 together explain 57% of profound deafness while those of gjb2, myo15a, otof, slc26a4, tmc1, and tmprss3 account for 47% of moderate to severe hearing loss. |
2021-07-26 |
2023-08-13 |
Not clear |
| Ying Cheng, Masako Nakamura, Tatsuo Matsunaga, Kimitaka Kag. A case of auditory neuropathy revealed by OTOF gene mutation analysis in a junior high school girl. Journal of otology. vol 12. issue 4. 2020-09-29. PMID:29937857. |
we report a case of a chinese girl with an revealed by otof (otoferlin) gene mutation analysis who had only a mild hearing loss. |
2020-09-29 |
2023-08-13 |
Not clear |
| Raja A H Kuchay, Yaser Rafiq Mir, Xue Zeng, Asima Hassan, Kazunori Namba, Mustafa Teki. Novel OTOF pathogenic variant segregating with non-syndromic hearing loss in a consanguineous family from tribal Rajouri in Jammu and Kashmir. International journal of pediatric otorhinolaryngology. vol 130. 2020-09-15. PMID:31875531. |
novel otof pathogenic variant segregating with non-syndromic hearing loss in a consanguineous family from tribal rajouri in jammu and kashmir. |
2020-09-15 |
2023-08-13 |
Not clear |
| Xuejing Bai, Shiyan Nian, Lei Feng, Qingrong Ruan, Xuan Luo, Mengna Wu, Zefeng Ya. Identification of novel variants in MYO15A, OTOF, and RDX with hearing loss by next-generation sequencing. Molecular genetics & genomic medicine. vol 7. issue 8. 2020-06-29. PMID:31250571. |
identification of novel variants in myo15a, otof, and rdx with hearing loss by next-generation sequencing. |
2020-06-29 |
2023-08-13 |
human |
| 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 Usam. OTOF mutation analysis with massively parallel DNA sequencing in 2,265 Japanese sensorineural hearing loss patients. PloS one. vol 14. issue 5. 2020-01-13. PMID:31095577. |
otof mutation analysis with massively parallel dna sequencing in 2,265 japanese sensorineural hearing loss patients. |
2020-01-13 |
2023-08-13 |
Not clear |
| 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 Usam. OTOF mutation analysis with massively parallel DNA sequencing in 2,265 Japanese sensorineural hearing loss patients. PloS one. vol 14. issue 5. 2020-01-13. PMID:31095577. |
the mutation analysis of 68 genes, including the otof gene, reported to cause non-syndromic hearing loss was performed using mps. |
2020-01-13 |
2023-08-13 |
Not clear |