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Items: 16

1.
Delayed progressive sensorineural hearing loss due to a novel compound heterozygous PTPRQ mutation in a Chinese patient
Yao Qin, Yi’nan Ma, Zhen’gang Zeng, Zhen Zhong, Yu Qi, Yuhe Liu
J Clin Lab Anal. 2023 Apr; 37(7): e24886. Published online 2023 Apr 27. doi: 10.1002/jcla.24886
PMCID:
PMC10220294
AbstractArticlePDF–837K
2.
Protein tyrosine phosphatase receptor type Q in cerebrospinal fluid reflects ependymal cell dysfunction and is a potential biomarker for adult chronic hydrocephalus
M. Nakajima, T. Rauramaa, P. M. Mäkinen, M. Hiltunen, S.‐K. Herukka, M. Kokki, T. Musialowicz, H.‐K. Jyrkkänen, N. Danner, A. Junkkari, A. M. Koivisto, J. E. Jääskeläinen, M. Miyajima, I. Ogino, A. Furuta, C. Akiba, K. Kawamura, C. Kamohara, H. Sugano, Y. Tange, K. Karagiozov, V. Leinonen, H. Arai
Eur J Neurol. 2021 Feb; 28(2): 389–400. Published online 2020 Nov 1. doi: 10.1111/ene.14575
PMCID:
PMC7821334
AbstractArticlePDF–1.4M
3.
First confirmatory study on PTPRQ as an autosomal dominant non-syndromic hearing loss gene
Dominika Oziębło, Anna Sarosiak, Marcin L. Leja, Birgit S. Budde, Grażyna Tacikowska, Nataliya Di Donato, Hanno J. Bolz, Peter Nürnberg, Henryk Skarżyński, Monika Ołdak
J Transl Med. 2019; 17: 351. Published online 2019 Oct 26. doi: 10.1186/s12967-019-2099-5
PMCID:
PMC6815010
AbstractArticlePDF–1.3M
4.
A C-terminal nonsense mutation links PTPRQ with autosomal-dominant hearing loss, DFNA73
Tobias Eisenberger, Nataliya Di Donato, Christian Decker, Andrea Delle Vedove, Christine Neuhaus, Gudrun Nürnberg, Mohammad Toliat, Peter Nürnberg, Dirk Mürbe, Hanno Jörn Bolz
Genet Med. 2018 Jun; 20(6): 614–621. Published online 2017 Oct 12. doi: 10.1038/gim.2017.155
PMCID:
PMC5993672
AbstractArticlePDF–1.2M
5.
Autosomal Recessive Congenital Sensorineural Hearing Loss due to a Novel Compound Heterozygous PTPRQ Mutation in a Chinese Family
Xia Wu, Shan Wang, Sen Chen, Ying-ying Wen, Bo Liu, Wen Xie, Dan Li, Lin Liu, Xiang Huang, Yu Sun, Wei-jia Kong
Neural Plast. 2018; 2018: 9425725. Published online 2018 Apr 19. doi: 10.1155/2018/9425725
PMCID:
PMC5932988
AbstractArticlePDF–2.0M
6.
PTPRQ as a potential biomarker for idiopathic normal pressure hydrocephalus
Yuki Nagata, Masahiko Bundo, Saiko Sugiura, Masahiro Kamita, Masaya Ono, Kotaro Hattori, Sumiko Yoshida, Yu-Ichi Goto, Katsuya Urakami, Shumpei Niida
Mol Med Rep. 2017 Sep; 16(3): 3034–3040. Published online 2017 Jul 15. doi: 10.3892/mmr.2017.7015
PMCID:
PMC5547938
AbstractArticlePDF–939K
7.
Novel PTPRQ mutations identified in three congenital hearing loss patients with various types of hearing loss
Naoko Sakuma, Hideaki Moteki, Hela Azaiez, Kevin T Booth, Masahiro Takahashi, Yasuhiro Arai, A Eliot Shearer, Christina M Sloan, Shin-ya Nishio, Diana L Kolbe, Satoshi Iwasaki, Nobuhiko Oridate, Richard J H Smith, Shin-ichi Usami
Ann Otol Rhinol Laryngol. Author manuscript; available in PMC 2015 May 23.
Published in final edited form as: Ann Otol Rhinol Laryngol. 2015 May; 124(1 0): 184S–192S. Published online 2015 Mar 18. doi: 10.1177/0003489415575041
PMCID:
PMC4441868
AbstractArticlePDF–825K
8.
Identification of Two Novel Compound Heterozygous PTPRQ Mutations Associated with Autosomal Recessive Hearing Loss in a Chinese Family
Xue Gao, Yu Su, Yu-Lan Chen, Ming-Yu Han, Yong-Yi Yuan, Jin-Cao Xu, Feng Xin, Mei-Guang Zhang, Sha-Sha Huang, Guo-Jian Wang, Dong-Yang Kang, Li-Ping Guan, Jian-Guo Zhang, Pu Dai
PLoS One. 2015; 10(4): e0124757. Published online 2015 Apr 28. doi: 10.1371/journal.pone.0124757
PMCID:
PMC4412678
AbstractArticlePDF–1.8M
9.
Mutations in PTPRQ Are a Cause of Autosomal-Recessive Nonsyndromic Hearing Impairment DFNB84 and Associated with Vestibular Dysfunction
Margit Schraders, Jaap Oostrik, Patrick L.M. Huygen, Tim M. Strom, Erwin van Wijk, Henricus P.M. Kunst, Lies H. Hoefsloot, Cor W.R.J. Cremers, Ronald J.C. Admiraal, Hannie Kremer
Am J Hum Genet. 2010 Apr 9; 86(4): 604–610. doi: 10.1016/j.ajhg.2010.02.015
PMCID:
PMC2850434
AbstractArticlePDF–657K
10.
Protein tyrosine phosphatase RQ is a phosphatidylinositol phosphatase that can regulate cell survival and proliferation
A. Oganesian, M. Poot, G. Daum, S. A. Coats, M. B. Wright, R. A. Seifert, D. F. Bowen-Pope
Proc Natl Acad Sci U S A. 2003 Jun 24; 100(13): 7563–7568. Published online 2003 Jun 11. doi: 10.1073/pnas.1336511100
PMCID:
PMC164626
AbstractArticlePDF–210K
11.
Five novel loci for inherited hearing loss mapped by SNP-based homozygosity profiles in Palestinian families
Hashem Shahin, Tom Walsh, Amal Abu Rayyan, Ming K Lee, Jake Higgins, Diane Dickel, Kristen Lewis, James Thompson, Carl Baker, Alex S Nord, Sunday Stray, David Gurwitz, Karen B Avraham, Mary-Claire King, Moien Kanaan
Eur J Hum Genet. 2010 Apr; 18(4): 407–413. Published online 2009 Nov 4. doi: 10.1038/ejhg.2009.190
PMCID:
PMC2987250
AbstractArticlePDF–544K
12.
Interaction of LATS1 with SMAC links the MST2/Hippo pathway with apoptosis in an IAP-dependent manner
Lucía García-Gutiérrez, Emma Fallahi, Nourhan Aboud, Niall Quinn, David Matallanas
Cell Death Dis. 2022 Aug; 13(8): 692. Published online 2022 Aug 8. doi: 10.1038/s41419-022-05147-3
PMCID:
PMC9360443
AbstractArticlePDF–5.8M
13.
An organelle-specific protein landscape identifies novel diseases and molecular mechanisms
Karsten Boldt, Jeroen van Reeuwijk, Qianhao Lu, Konstantinos Koutroumpas, Thanh-Minh T. Nguyen, Yves Texier, Sylvia E. C. van Beersum, Nicola Horn, Jason R. Willer, Dorus A. Mans, Gerard Dougherty, Ideke J. C. Lamers, Karlien L. M. Coene, Heleen H. Arts, Matthew J. Betts, Tina Beyer, Emine Bolat, Christian Johannes Gloeckner, Khatera Haidari, Lisette Hetterschijt, Daniela Iaconis, Dagan Jenkins, Franziska Klose, Barbara Knapp, Brooke Latour, Stef J. F. Letteboer, Carlo L. Marcelis, Dragana Mitic, Manuela Morleo, Machteld M. Oud, Moniek Riemersma, Susan Rix, Paulien A. Terhal, Grischa Toedt, Teunis J. P. van Dam, Erik de Vrieze, Yasmin Wissinger, Ka Man Wu, Gordana Apic, Philip L. Beales, Oliver E. Blacque, Toby J. Gibson, Martijn A. Huynen, Nicholas Katsanis, Hannie Kremer, Heymut Omran, Erwin van Wijk, Uwe Wolfrum, François Kepes, Erica E. Davis, Brunella Franco, Rachel H. Giles, Marius Ueffing, Robert B. Russell, Ronald Roepman, UK10K Rare Diseases Group
Nat Commun. 2016; 7: 11491. Published online 2016 May 13. doi: 10.1038/ncomms11491
PMCID:
PMC4869170
AbstractArticlePDF–2.0M
14.
Personalized Smoking Cessation: Interactions between Nicotine Dose, Dependence and Quit-Success Genotype Score
Jed E Rose, Frédérique M Behm, Tomas Drgon, Catherine Johnson, George R Uhl
Mol Med. 2010 Jul-Aug; 16(7-8): 247–253. Published online 2010 Mar 17. doi: 10.2119/molmed.2009.00159
Correction in:
Mol Med. 2012; 18(1): 729.
PMCID:
PMC2896464
AbstractArticlePDF–2.4M
15.
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
AbstractArticlePDF–438K
16.
Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium
Pascale Gaudet, Michael S. Livstone, Suzanna E. Lewis, Paul D. Thomas
Brief Bioinform. 2011 Sep; 12(5): 449–462. Published online 2011 Aug 27. doi: 10.1093/bib/bbr042
PMCID:
PMC3178059
AbstractArticlePDF–1.0M

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