PMC Links for Gene (Select 120356739) - PMC

Select item 72855241.

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 25671472.

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 34047323.

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 13561294.

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 1392415.

Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences

Mammalian Gene Collection (MGC) Program Team

Proc Natl Acad Sci U S A. 2002 Dec 24; 99(26): 16899–16903. Published online 2002 Dec 11. doi: 10.1073/pnas.242603899

PMCID:: PMC139241

Abstract Article PDF–118K

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