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Items: 15

1.

Novel mutations in LRTOMT associated with moderate progressive hearing loss in autosomal recessive inheritance.

Ichinose A, Moteki H, Hattori M, Nishio SY, Usami S.

Ann Otol Rhinol Laryngol. 2015 May;124 Suppl 1:142S-7S. doi: 10.1177/0003489415575043. Epub 2015 Mar 18.

PMID:
25788562
2.

The c.242G>A mutation in LRTOMT gene is responsible for a high prevalence of deafness in the Moroccan population.

Charif M, Bounaceur S, Abidi O, Nahili H, Rouba H, Kandil M, Boulouiz R, Barakat A.

Mol Biol Rep. 2012 Dec;39(12):11011-6. doi: 10.1007/s11033-012-2003-3. Epub 2012 Oct 8.

PMID:
23053991
3.

A 1 bp deletion in the dual reading frame deafness gene LRTOMT causes a frameshift from the first into the second reading frame.

Vanwesemael M, Schrauwen I, Ceuppens R, Alasti F, Jorssen E, Farrokhi E, Chaleshtori MH, Van Camp G.

Am J Med Genet A. 2011 Aug;155A(8):2021-3. doi: 10.1002/ajmg.a.34096. Epub 2011 Jul 7. No abstract available.

PMID:
21739586
4.

A novel locus for autosomal recessive nonsyndromic hearing impairment, DFNB63, maps to chromosome 11q13.2-q13.4.

Kalay E, Caylan R, Kiroglu AF, Yasar T, Collin RW, Heister JG, Oostrik J, Cremers CW, Brunner HG, Karaguzel A, Kremer H.

J Mol Med (Berl). 2007 Apr;85(4):397-404. Epub 2007 Jan 9.

PMID:
17211611
5.

Localization of a novel autosomal recessive non-syndromic hearing impairment locus DFNB63 to chromosome 11q13.3-q13.4.

Tlili A, Masmoudi S, Dhouib H, Bouaziz S, Rebeh IB, Chouchen J, Turki K, Benzina Z, Charfedine I, Drira M, Ayadi H.

Ann Hum Genet. 2007 Mar;71(Pt 2):271-5. Epub 2006 Dec 12.

6.

Autosomal recessive nonsyndromic deafness locus DFNB63 at chromosome 11q13.2-q13.3.

Khan SY, Riazuddin S, Tariq M, Anwar S, Shabbir MI, Riazuddin SA, Khan SN, Husnain T, Ahmed ZM, Friedman TB, Riazuddin S.

Hum Genet. 2007 Feb;120(6):789-93. Epub 2006 Oct 26.

PMID:
17066295
7.

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

Du X, Schwander M, Moresco EM, Viviani P, Haller C, Hildebrand MS, Pak K, Tarantino L, Roberts A, Richardson H, Koob G, Najmabadi H, Ryan AF, Smith RJ, Müller U, Beutler B.

Proc Natl Acad Sci U S A. 2008 Sep 23;105(38):14609-14. doi: 10.1073/pnas.0807219105. Epub 2008 Sep 15.

8.

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

Ahmed ZM, Masmoudi S, Kalay E, Belyantseva IA, Mosrati MA, Collin RW, Riazuddin S, Hmani-Aifa M, Venselaar H, Kawar MN, Tlili A, van der Zwaag B, Khan SY, Ayadi L, Riazuddin SA, Morell RJ, Griffith AJ, Charfedine I, Caylan R, Oostrik J, Karaguzel A, Ghorbel A, Riazuddin S, Friedman TB, Ayadi H, Kremer H.

Nat Genet. 2008 Nov;40(11):1335-40. doi: 10.1038/ng.245. Epub 2008 Oct 26.

9.

Hereditary Hearing Loss and Deafness Overview.

Shearer AE, Hildebrand MS, Smith RJH.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020.
1999 Feb 14 [updated 2017 Jul 27].

10.

Ubiquitin-mediated proteolysis of HuR by heat shock.

Abdelmohsen K, Srikantan S, Yang X, Lal A, Kim HH, Kuwano Y, Galban S, Becker KG, Kamara D, de Cabo R, Gorospe M.

EMBO J. 2009 May 6;28(9):1271-82. doi: 10.1038/emboj.2009.67. Epub 2009 Mar 26.

11.

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

Kimura K, Wakamatsu A, Suzuki Y, Ota T, Nishikawa T, Yamashita R, Yamamoto J, Sekine M, Tsuritani K, Wakaguri H, Ishii S, Sugiyama T, Saito K, Isono Y, Irie R, Kushida N, Yoneyama T, Otsuka R, Kanda K, Yokoi T, Kondo H, Wagatsuma M, Murakawa K, Ishida S, Ishibashi T, Takahashi-Fujii A, Tanase T, Nagai K, Kikuchi H, Nakai K, Isogai T, Sugano S.

Genome Res. 2006 Jan;16(1):55-65. Epub 2005 Dec 12.

12.

Architecture of the human interactome defines protein communities and disease networks.

Huttlin EL, Bruckner RJ, Paulo JA, Cannon JR, Ting L, Baltier K, Colby G, Gebreab F, Gygi MP, Parzen H, Szpyt J, Tam S, Zarraga G, Pontano-Vaites L, Swarup S, White AE, Schweppe DK, Rad R, Erickson BK, Obar RA, Guruharsha KG, Li K, Artavanis-Tsakonas S, Gygi SP, Harper JW.

Nature. 2017 May 25;545(7655):505-509. doi: 10.1038/nature22366. Epub 2017 May 17.

13.

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J; MGC Project Team.

Genome Res. 2004 Oct;14(10B):2121-7. Erratum in: Genome Res. 2006 Jun;16(6):804. Morrin, Ryan [corrected to Morin, Ryan].

14.

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

Strausberg RL, Feingold EA, Grouse LH, Derge JG, Klausner RD, Collins FS, Wagner L, Shenmen CM, Schuler GD, Altschul SF, Zeeberg B, Buetow KH, Schaefer CF, Bhat NK, Hopkins RF, Jordan H, Moore T, Max SI, Wang J, Hsieh F, Diatchenko L, Marusina K, Farmer AA, Rubin GM, Hong L, Stapleton M, Soares MB, Bonaldo MF, Casavant TL, Scheetz TE, Brownstein MJ, Usdin TB, Toshiyuki S, Carninci P, Prange C, Raha SS, Loquellano NA, Peters GJ, Abramson RD, Mullahy SJ, Bosak SA, McEwan PJ, McKernan KJ, Malek JA, Gunaratne PH, Richards S, Worley KC, Hale S, Garcia AM, Gay LJ, Hulyk SW, Villalon DK, Muzny DM, Sodergren EJ, Lu X, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madan A, Young AC, Shevchenko Y, Bouffard GG, Blakesley RW, Touchman JW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Krzywinski MI, Skalska U, Smailus DE, Schnerch A, Schein JE, Jones SJ, Marra MA; Mammalian Gene Collection Program Team.

Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903. Epub 2002 Dec 11.

15.

Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium.

Gaudet P, Livstone MS, Lewis SE, Thomas PD.

Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27.

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