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Items: 1 to 20 of 23

1.
Usher Syndrome and Non-syndromic Deafness: Functions of Different Whirlin Isoforms in the Cochlea, Vestibular Organs, and Retina
Pranav Dinesh Mathur, Jun Yang
Hear Res. Author manuscript; available in PMC 2020 Apr 1.
Published in final edited form as: Hear Res. 2019 Apr; 375: 14–24. Published online 2019 Feb 22. doi: 10.1016/j.heares.2019.02.007
PMCID:
PMC6474673
ArticlePDF–923K
2.
Sequence variants of the DFNB31 gene among Usher syndrome patients of diverse origin
Elena Aller, Teresa Jaijo, Erwin van Wijk, Inga Ebermann, Ferry Kersten, Gema García-García, Krysta Voesenek, María José Aparisi, Lies Hoefsloot, Cor Cremers, Manuel Díaz-Llopis, Ronald Pennings, Hanno J. Bolz, Hannie Kremer, José M. Millán
Mol Vis. 2010; 16: 495–500. Published online 2010 Mar 23.
PMCID:
PMC2845667
ArticlePDF–914K
3.
Identification of whirlin domains interacting with espin: A study of the mechanism of Usher syndrome type II
Le Wang, Bo Wei, Xueqi Fu, Yuchen Wang, Yuan Sui, Junfeng Ma, Xianhui Gong, Jilong Hao, Shu Xing
Mol Med Rep. 2019 Dec; 20(6): 5111–5117. Published online 2019 Oct 7. doi: 10.3892/mmr.2019.10728
PMCID:
PMC6854525
ArticlePDF–490K
4.
Common founder effects of hereditary hemochromatosis, Wilson´s disease, the long QT syndrome and autosomal recessive deafness caused by two novel mutations in the WHRN and TMC1 genes
K. Sigvard Olsson, Olof Wålinder, Ulf Jansson, Maria Wilbe, Marie-Louise Bondeson, Eva-Lena Stattin, Ruma Raha-Chowdhury, Roger Williams
Hereditas. 2017; 154: 16. Published online 2017 Dec 19. doi: 10.1186/s41065-017-0052-2
PMCID:
PMC5735936
ArticlePDF–1.1M
5.
The contribution of GPR98 and DFNB31 genes to a Spanish Usher syndrome type 2 cohort
Gema García-García, Thomas Besnard, David Baux, Christel Vaché, Elena Aller, Sue Malcolm, Mireille Claustres, Jose M. Millan, Anne-Françoise Roux
Mol Vis. 2013; 19: 367–373. Published online 2013 Feb 13.
PMCID:
PMC3580968
ArticlePDF–444K
6.
A novel DFNB31 mutation associated with Usher type 2 syndrome showing variable degrees of auditory loss in a consanguineous Portuguese family.
Isabelle Audo, Kinga Bujakowska, Saddek Mohand-Saïd, Sophie Tronche, Marie-Elise Lancelot, Aline Antonio, Aurore Germain, Christine Lonjou, Wassila Carpentier, José-Alain Sahel, Shomi Bhattacharya, Christina Zeitz
Mol Vis. 2011; 17: 1598–1606. Published online 2011 Jun 15.
PMCID:
PMC3123164
ArticlePDF–708K
7.
Usher proteins in inner ear structure and function
Zubair M. Ahmed, Gregory I. Frolenkov, Saima Riazuddin
Physiol Genomics. 2013 Nov 1; 45(21): 987–989. Published online 2013 Sep 10. doi: 10.1152/physiolgenomics.00135.2013
PMCID:
PMC3841788
Article
8.
Mutations in CIB2, a calcium and integrin binding protein, cause Usher syndrome type 1J and nonsyndromic deafness DFNB48
Saima Riazuddin, Inna A. Belyantseva, Arnaud Giese, Kwanghyuk Lee, Artur A. Indzhykulian, Sri Pratima Nandamuri, Rizwan Yousaf, Ghanshyam P. Sinha, Sue Lee, David Terrell, Rashmi S. Hegde, Rana A. Ali, Saima Anwar, Paula B. Andrade-Elizondo, Asli Sirmaci, Leslie V. Parise, Sulman Basit, Abdul Wali, Muhammad Ayub, Muhammad Ansar, Wasim Ahmad, Shaheen N. Khan, Javed Akram, Mustafa Tekin, Sheikh Riazuddin, Tiffany Cook, Elke K. Buschbeck, Gregory I. Frolenkov, Suzanne M. Leal, Thomas B. Friedman, Zubair M. Ahmed
Nat Genet. Author manuscript; available in PMC 2013 May 1.
Published in final edited form as: Nat Genet. 2012 Nov; 44(11): 1265–1271. Published online 2012 Sep 30. doi: 10.1038/ng.2426
PMCID:
PMC3501259
ArticlePDF–1.9M
9.
Massively Parallel DNA Sequencing Facilitates Diagnosis of Patients with Usher Syndrome Type 1
Hidekane Yoshimura, Satoshi Iwasaki, Shin-ya Nishio, Kozo Kumakawa, Tetsuya Tono, Yumiko Kobayashi, Hiroaki Sato, Kyoko Nagai, Kotaro Ishikawa, Tetsuo Ikezono, Yasushi Naito, Kunihiro Fukushima, Chie Oshikawa, Takashi Kimitsuki, Hiroshi Nakanishi, Shin-ichi Usami
PLoS One. 2014; 9(3): e90688. Published online 2014 Mar 11. doi: 10.1371/journal.pone.0090688
PMCID:
PMC3949687
ArticlePDF–204K
10.
Whirlin and PDZ Domain-containing 7 (PDZD7) Proteins Are Both Required to Form the Quaternary Protein Complex Associated with Usher Syndrome Type 2
Qian Chen, Junhuang Zou, Zuolian Shen, Weiping Zhang, Jun Yang
J Biol Chem. 2014 Dec 26; 289(52): 36070–36088. Published online 2014 Nov 18. doi: 10.1074/jbc.M114.610535
PMCID:
PMC4276872
ArticlePDF–6.5M
11.
Propensity Score-Based Nonparametric Test Revealing Genetic Variants Underlying Bipolar Disorder
Yuan Jiang, Heping Zhang
Genet Epidemiol. Author manuscript; available in PMC 2012 Feb 1.
Published in final edited form as: Genet Epidemiol. 2011 Feb; 35(2): 125–132. doi: 10.1002/gepi.20558
PMCID:
PMC3077545
ArticlePDF–413K
12.
Findings from bipolar disorder genome-wide association studies replicate in a Finnish bipolar family-cohort
HM Ollila, P Soronen, K Silander, OM Palo, T Kieseppä, MA Kaunisto, J Lönnqvist, L Peltonen, T Partonen, T Paunio
Mol Psychiatry. Author manuscript; available in PMC 2009 Oct 1.
Published in final edited form as: Mol Psychiatry. 2009 Apr; 14(4): 351–353. doi: 10.1038/mp.2008.122
PMCID:
PMC2694406
ArticlePDF–262K
13.
Follow-Up Association Studies of Chromosome Region 9q and Nonsyndromic Cleft Lip/Palate
Ariadne Letra, Renato Menezes, Manika Govil, Renata F. Fonseca, Toby McHenry, José M. Granjeiro, Eduardo E. Castilla, Iêda M. Orioli, Mary L. Marazita, Alexandre R. Vieira
Am J Med Genet A. Author manuscript; available in PMC 2010 Jul 7.
Published in final edited form as: Am J Med Genet A. 2010 Jul; 152A(7): 1701–1710. doi: 10.1002/ajmg.a.33482
PMCID:
PMC2898904
ArticlePDF–389K
14.
Rewiring of RSK-PDZ interactome by linear motif phosphorylation
Gergő Gógl, Beáta Biri-Kovács, Fabien Durbesson, Pau Jane, Yves Nomine, Camille Kostmann, Viktória Bilics, Márton Simon, Attila Reményi, Renaud Vincentelli, Gilles Trave, László Nyitray
J Mol Biol. Author manuscript; available in PMC 2020 Mar 15.
Published in final edited form as: J Mol Biol. 2019 Mar 15; 431(6): 1234–1249. Published online 2019 Feb 3. doi: 10.1016/j.jmb.2019.01.038
PMCID:
PMC6424611
ArticlePDF–2.6M
15.
Protein–Protein Interactions Between Large Proteins: Two-Hybrid Screening Using a Functionally Classified Library Composed of Long cDNAs
Manabu Nakayama, Reiko Kikuno, Osamu Ohara
Genome Res. 2002 Nov; 12(11): 1773–1784. doi: 10.1101/gr.406902
PMCID:
PMC187542
ArticlePDF–374K
16.
Identification of motif-based interactions between SARS-CoV-2 protein domains and human peptide ligands pinpoint antiviral targets
Filip Mihalič, Caroline Benz, Eszter Kassa, Richard Lindqvist, Leandro Simonetti, Raviteja Inturi, Hanna Aronsson, Eva Andersson, Celestine N. Chi, Norman E. Davey, Anna K. Överby, Per Jemth, Ylva Ivarsson
Nat Commun. 2023; 14: 5636. Published online 2023 Sep 13. doi: 10.1038/s41467-023-41312-8
PMCID:
PMC10499821
ArticlePDF–2.6M
17.
New interaction partners for Nek4.1 and Nek4.2 isoforms: from the DNA damage response to RNA splicing
Fernanda Luisa Basei, Gabriela Vaz Meirelles, Germanna Lima Righetto, Deivid Lucas dos Santos Migueleti, Juliana Helena Costa Smetana, Jörg Kobarg
Proteome Sci. 2015; 13: 11. Published online 2015 Feb 26. doi: 10.1186/s12953-015-0065-6
PMCID:
PMC4367857
ArticlePDF–3.1M
18.
Novel Genetic Loci Identified for the Pathophysiology of Childhood Obesity in the Hispanic Population
Anthony G. Comuzzie, Shelley A. Cole, Sandra L. Laston, V. Saroja Voruganti, Karin Haack, Richard A. Gibbs, Nancy F. Butte
PLoS One. 2012; 7(12): e51954. Published online 2012 Dec 14. doi: 10.1371/journal.pone.0051954
PMCID:
PMC3522587
ArticlePDF–130K
19.
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
ArticlePDF–2.0M
20.
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
ArticlePDF–438K

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