PMC Links for Gene (Select 220074) - PMC

Select item 85800771.

Deep analysis of the LRTOMTc.242G>A variant in non‐syndromic hearing loss North African patients and the Berber population: Implications for genetic diagnosis and genealogical studies

Mohamed Ali Mosrati, Karima Fadhlaoui‐Zid, Amel Benammar‐Elgaaied, Abdullah Ahmed Gibriel, Mariem Ben Said, Saber Masmoudi

Mol Genet Genomic Med. 2021 Oct; 9(10): e1810. Published online 2021 Sep 13. doi: 10.1002/mgg3.1810

PMCID:: PMC8580077

Abstract Article PDF–724K

Select item 72855242.

A novel pathogenic variant in the LRTOMT gene causes autosomal recessive non-syndromic hearing loss in an Iranian family

Akram Sarmadi, Samane Nasrniya, Maryam Soleimani Farsani, Sina Narrei, Zahra Nouri, Mahsa Sepehrnejad, Mohammad Hussein Nilforoush, Hamidreza Abtahi, Mohammad Amin Tabatabaiefar

BMC Med Genet. 2020; 21: 127. Published online 2020 Jun 9. doi: 10.1186/s12881-020-01061-7

PMCID:: PMC7285524

Abstract Article PDF–3.8M

Select item 25671473.

A catechol-O-methyltransferase that is essential for auditory function in mice and humans

Xin Du, Martin Schwander, Eva Marie Y. Moresco, Pia Viviani, Claudia Haller, Michael S. Hildebrand, Kwang Pak, Lisa Tarantino, Amanda Roberts, Heather Richardson, George Koob, Hossein Najmabadi, Allen F. Ryan, Richard J. H. Smith, Ulrich Müller, Bruce Beutler

Proc Natl Acad Sci U S A. 2008 Sep 23; 105(38): 14609–14614. Published online 2008 Sep 15. doi: 10.1073/pnas.0807219105

PMCID:: PMC2567147

Abstract Article PDF–924K

Select item 34047324.

Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans

Zubair M Ahmed, Saber Masmoudi, Ersan Kalay, Inna A Belyantseva, Mohamed Ali Mosrati, Rob W J Collin, Saima Riazuddin, Mounira Hmani-Aifa, Hanka Venselaar, Mayya N Kawar, Tlili Abdelaziz, Bert van der Zwaag, Shahid Y Khan, Leila Ayadi, S Amer Riazuddin, Robert J Morell, Andrew J Griffith, Ilhem Charfedine, Refik Çaylan, Jaap Oostrik, Ahmet Karaguzel, Abdelmonem Ghorbel, Sheikh Riazuddin, Thomas B Friedman, Hammadi Ayadi, Hannie Kremer

Nat Genet. Author manuscript; available in PMC 2012 Jul 25.

Published in final edited form as: Nat Genet. 2008 Nov; 40(11): 1335–1340. Published online 2008 Oct 26. doi: 10.1038/ng.245

PMCID:: PMC3404732

Abstract Article PDF–1.7M

Select item 48416075.

High-throughput analyses of hnRNP H1 dissects its multi-functional aspect

Philip J. Uren, Emad Bahrami-Samani, Patricia Rosa de Araujo, Christine Vogel, Mei Qiao, Suzanne C. Burns, Andrew D. Smith, Luiz O. F. Penalva

RNA Biol. 2016 Apr; 13(4): 400–411. Published online 2016 Jan 13. doi: 10.1080/15476286.2015.1138030

PMCID:: PMC4841607

Abstract Article PDF–1.6M

Select item 26830476.

Ubiquitin-mediated proteolysis of HuR by heat shock

Kotb Abdelmohsen, Subramanya Srikantan, Xiaoling Yang, Ashish Lal, Hyeon Ho Kim, Yuki Kuwano, Stefanie Galban, Kevin G Becker, Davida Kamara, Rafael de Cabo, Myriam Gorospe

EMBO J. 2009 May 6; 28(9): 1271–1282. Published online 2009 Mar 26. doi: 10.1038/emboj.2009.67

PMCID:: PMC2683047

Abstract Article PDF–1.4M

Select item 13561297.

Diversification of transcriptional modulation: Large-scale identification and characterization of putative alternative promoters of human genes

Kouichi Kimura, Ai Wakamatsu, Yutaka Suzuki, Toshio Ota, Tetsuo Nishikawa, Riu Yamashita, Jun-ichi Yamamoto, Mitsuo Sekine, Katsuki Tsuritani, Hiroyuki Wakaguri, Shizuko Ishii, Tomoyasu Sugiyama, Kaoru Saito, Yuko Isono, Ryotaro Irie, Norihiro Kushida, Takahiro Yoneyama, Rie Otsuka, Katsuhiro Kanda, Takahide Yokoi, Hiroshi Kondo, Masako Wagatsuma, Katsuji Murakawa, Shinichi Ishida, Tadashi Ishibashi, Asako Takahashi-Fujii, Tomoo Tanase, Keiichi Nagai, Hisashi Kikuchi, Kenta Nakai, Takao Isogai, Sumio Sugano

Genome Res. 2006 Jan; 16(1): 55–65. doi: 10.1101/gr.4039406

PMCID:: PMC1356129

Abstract Article PDF–438K

Select item 55316118.

Architecture of the human interactome defines protein communities and disease networks

Edward L. Huttlin, Raphael J. Bruckner, Joao A. Paulo, Joe R. Cannon, Lily Ting, Kurt Baltier, Greg Colby, Fana Gebreab, Melanie P. Gygi, Hannah Parzen, John Szpyt, Stanley Tam, Gabriela Zarraga, Laura Pontano-Vaites, Sharan Swarup, Anne E. White, Devin K. Schweppe, Ramin Rad, Brian K. Erickson, Robert A. Obar, K.G. Guruharsha, Kejie Li, Spyros Artavanis-Tsakonas, Steven P. Gygi, J. Wade Harper

Nature. Author manuscript; available in PMC 2017 Nov 17.

Published in final edited form as: Nature. 2017 May 25; 545(7655): 505–509. Published online 2017 May 17. doi: 10.1038/nature22366

PMCID:: PMC5531611

Abstract Article PDF–2.7M

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