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Items: 1 to 20 of 41

1.
Affinity Proteomics Identifies Interaction Partners and Defines Novel Insights into the Function of the Adhesion GPCR VLGR1/ADGRV1
Barbara Knapp, Jens Roedig, Heiko Roedig, Jacek Krzysko, Nicola Horn, Baran E. Güler, Deva Krupakar Kusuluri, Adem Yildirim, Karsten Boldt, Marius Ueffing, Ines Liebscher, Uwe Wolfrum
Molecules. 2022 May; 27(10): 3108. Published online 2022 May 12. doi: 10.3390/molecules27103108
PMCID:
PMC9146371
AbstractArticlePDF–6.1M
2.
Genomewide Gene-by-Sex Interaction Scans Identify ADGRV1 for Sex Differences in Opioid Dependent African Americans
Bao-Zhu Yang, Hang Zhou, Zhongshan Cheng, Henry R. Kranzler, Joel Gelernter
Sci Rep. 2019; 9: 18070. Published online 2019 Dec 2. doi: 10.1038/s41598-019-53560-0
PMCID:
PMC6889277
AbstractArticlePDF–1.6M
3.
A novel homozygous variant of GPR98 causes usher syndrome type IIC in a consanguineous Chinese family by next generation sequencing
Chunli Wei, Lisha Yang, Jingliang Cheng, Saber Imani, Shangyi Fu, Hongbin Lv, Yumei Li, Rui Chen, Elaine Lai-Han Leung, Junjiang Fu
BMC Med Genet. 2018; 19: 99. Published online 2018 Jun 11. doi: 10.1186/s12881-018-0602-0
PMCID:
PMC5996530
AbstractArticlePDF–1006K
4.
USH2 caused by GPR98 mutation diagnosed by massively parallel sequencing in advance of the occurrence of visual symptoms
Hideaki Moteki, Hidekane Yoshimura, Hela Azaiez, Kevin T. Booth, A Eliot Shearer, Christina M. Sloan, Diana L. Kolbe, Toshinori Murata, 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): 123S–128S. Published online 2015 Mar 5. doi: 10.1177/0003489415574070
PMCID:
PMC4441826
AbstractArticlePDF–638K
5.
Genetic heterogeneity of Usher syndrome type II: localisation to chromosome 5q
S Pieke-Dahl, C Moller, P Kelley, L Astuto, C Cremers, M Gorin, W Kimberling
J Med Genet. 2000 Apr; 37(4): 256–262. doi: 10.1136/jmg.37.4.256
PMCID:
PMC1734554
SummaryPDF–149K
6.
Genetic heterogeneity of Usher syndrome type II.
S Pieke Dahl, W J Kimberling, M B Gorin, M D Weston, J M Furman, A Pikus, C Möller
J Med Genet. 1993 Oct; 30(10): 843–848. doi: 10.1136/jmg.30.10.843
PMCID:
PMC1016567
SummaryPage BrowsePDF–1.4M
7.
Characteristics of Retinitis Pigmentosa Associated with ADGRV1 and Comparison with USH2A in Patients from a Multicentric Usher Syndrome Study Treatrush
Ana Fakin, Crystel Bonnet, Anne Kurtenbach, Saddek Mohand-Said, Ditta Zobor, Katarina Stingl, Francesco Testa, Francesca Simonelli, José-Alain Sahel, Isabelle Audo, Eberhart Zrenner, Marko Hawlina, Christine Petit
Int J Mol Sci. 2021 Oct; 22(19): 10352. Published online 2021 Sep 26. doi: 10.3390/ijms221910352
PMCID:
PMC8509029
AbstractArticlePDF–2.0M
8.
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
AbstractArticlePDF–444K
9.
Identification of two new mutations in the GPR98 and the PDE6B genes segregating in a Tunisian family
Mounira Hmani-Aifa, Zeineb Benzina, Fareeha Zulfiqar, Houria Dhouib, Amber Shahzadi, Abdelmonem Ghorbel, Ahmed Rebaï, Peter Söderkvist, Sheikh Riazuddin, William J Kimberling, Hammadi Ayadi
Eur J Hum Genet. 2009 Apr; 17(4): 474–482. Published online 2008 Oct 15. doi: 10.1038/ejhg.2008.167
PMCID:
PMC2986209
AbstractArticlePDF–276K
10.
Mutations in the VLGR1 Gene Implicate G-Protein Signaling in the Pathogenesis of Usher Syndrome Type II
Michael D. Weston, Mirjam W. J. Luijendijk, Kurt D. Humphrey, Claes Möller, William J. Kimberling
Am J Hum Genet. 2004 Feb; 74(2): 357–366. Published online 2004 Jan 20. doi: 10.1086/381685
Correction in:
Am J Hum Genet. 2004 May; 74(5): 1080.
PMCID:
PMC1181933
AbstractArticlePDF–556K
11.
Targeted next generation sequencing in Italian patients with Usher syndrome: phenotype-genotype correlations
Chiara M. Eandi, Laura Dallorto, Roberta Spinetta, Maria Pia Micieli, Mario Vanzetti, Alessandro Mariottini, Ilaria Passerini, Francesca Torricelli, Camilla Alovisi, Cristiana Marchese
Sci Rep. 2017; 7: 15681. Published online 2017 Nov 15. doi: 10.1038/s41598-017-16014-z
PMCID:
PMC5688149
AbstractArticlePDF–1.7M
12.
Constitutive Gαi Coupling Activity of Very Large G Protein-coupled Receptor 1 (VLGR1) and Its Regulation by PDZD7 Protein
Qiao-Xia Hu, Jun-Hong Dong, Hai-Bo Du, Dao-Lai Zhang, Hong-Ze Ren, Ming-Liang Ma, Yuan Cai, Tong-Chao Zhao, Xiao-Lei Yin, Xiao Yu, Tian Xue, Zhi-Gang Xu, Jin-Peng Sun
J Biol Chem. 2014 Aug 29; 289(35): 24215–24225. Published online 2014 Jun 24. doi: 10.1074/jbc.M114.549816
PMCID:
PMC4148852
AbstractArticlePDF–2.1M
13.
Usher syndromes due to MYO7A, PCDH15, USH2A or GPR98 mutations share retinal disease mechanism
Samuel G. Jacobson, Artur V. Cideciyan, Tomas S. Aleman, Alexander Sumaroka, Alejandro J. Roman, Leigh M. Gardner, Haydn M. Prosser, Monalisa Mishra, N. Torben Bech-Hansen, Waldo Herrera, Sharon B. Schwartz, Xue-Zhong Liu, William J. Kimberling, Karen P. Steel, David S. Williams
Hum Mol Genet. 2008 Aug 1; 17(15): 2405–2415. Published online 2008 May 7. doi: 10.1093/hmg/ddn140
PMCID:
PMC2733815
AbstractArticlePDF–1.1M
14.
PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome
Inga Ebermann, Jennifer B. Phillips, Max C. Liebau, Robert K. Koenekoop, Bernhard Schermer, Irma Lopez, Ellen Schäfer, Anne-Francoise Roux, Claudia Dafinger, Antje Bernd, Eberhart Zrenner, Mireille Claustres, Bernardo Blanco, Gudrun Nürnberg, Peter Nürnberg, Rebecca Ruland, Monte Westerfield, Thomas Benzing, Hanno J. Bolz
J Clin Invest. 2010 Jun 1; 120(6): 1812–1823. Published online 2010 May 3. doi: 10.1172/JCI39715
PMCID:
PMC2877930
AbstractArticlePDF–3.3M
15.
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
AbstractArticlePDF–204K
16.
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
AbstractArticlePDF–6.5M
17.
Genome-wide association with bone mass and geometry in the Framingham Heart Study
Douglas P Kiel, Serkalem Demissie, Josée Dupuis, Kathryn L Lunetta, Joanne M Murabito, David Karasik
BMC Med Genet. 2007; 8(Suppl 1): S14. Published online 2007 Sep 19. doi: 10.1186/1471-2350-8-S1-S14
PMCID:
PMC1995606
AbstractArticlePDF–344K
18.
Genomewide pharmacogenomic study of metabolic side effects to antipsychotic drugs
Daniel E. Adkins, Karolina Åberg, Joseph L. McClay, József Bukszár, Zhongming Zhao, Peilin Jia, T. Scott Stroup, Diana Perkins, Joseph P. McEvoy, Jeffrey A. Lieberman, Patrick F. Sullivan, Edwin J.C.G. van den Oord
Mol Psychiatry. Author manuscript; available in PMC 2011 Sep 1.
Published in final edited form as: Mol Psychiatry. 2011 Mar; 16(3): 321–332. Published online 2010 Mar 2. doi: 10.1038/mp.2010.14
PMCID:
PMC2891163
AbstractArticlePDF–491K
19.
Replication of Previous Genome-wide Association Studies of Bone Mineral Density in Premenopausal American Women
Shoji Ichikawa, Daniel L Koller, Leah R Padgett, Dongbing Lai, Siu L Hui, Munro Peacock, Tatiana Foroud, Michael J Econs
J Bone Miner Res. 2010 Aug; 25(8): 1821–1829. Published online 2010 Feb 8. doi: 10.1002/jbmr.62
PMCID:
PMC3153352
AbstractArticlePDF–371K
20.
International Union of Basic and Clinical Pharmacology. XCIV. Adhesion G Protein–Coupled Receptors
Jörg Hamann, Gabriela Aust, Demet Araç, Felix B. Engel, Caroline Formstone, Robert Fredriksson, Randy A. Hall, Breanne L. Harty, Christiane Kirchhoff, Barbara Knapp, Arunkumar Krishnan, Ines Liebscher, Hsi-Hsien Lin, David C. Martinelli, Kelly R. Monk, Miriam C. Peeters, Xianhua Piao, Simone Prömel, Torsten Schöneberg, Thue W. Schwartz, Kathleen Singer, Martin Stacey, Yuri A. Ushkaryov, Mario Vallon, Uwe Wolfrum, Mathew W. Wright, Lei Xu, Tobias Langenhan, Helgi B. Schiöth
Pharmacol Rev. 2015 Apr; 67(2): 338–367. Published online 2015 Apr. doi: 10.1124/pr.114.009647
PMCID:
PMC4394687
AbstractArticlePDF–3.0M

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