PMC Links for Protein (Select 35493868) - PMC

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Items: 3

Select item 65220171.

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 62607602.

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

Abstract Article PDF–1.7M

Select item 52836033.

Hair cell synaptic dysfunction, auditory fatigue and thermal sensitivity in otoferlin Ile515Thr mutants

Nicola Strenzke, Rituparna Chakrabarti, Hanan Al‐Moyed, Alexandra Müller, Gerhard Hoch, Tina Pangrsic, Gulnara Yamanbaeva, Christof Lenz, Kuan‐Ting Pan, Elisabeth Auge, Ruth Geiss‐Friedlander, Henning Urlaub, Nils Brose, Carolin Wichmann, Ellen Reisinger

EMBO J. 2016 Dec 1; 35(23): 2519–2535. Published online 2016 Oct 11. doi: 10.15252/embj.201694564