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Select item 91463711.

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

Abstract Article PDF–6.1M

Select item 68892772.

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

Abstract Article PDF–1.6M

Select item 59965303.

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

Abstract Article PDF–1006K

Select item 44418264.

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

Abstract Article PDF–638K

Select item 17345545.

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

Summary PDF–149K

Select item 10165676.

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

Summary Page Browse PDF–1.4M

Select item 85090297.

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

Abstract Article PDF–2.0M

Select item 35809688.

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

Abstract Article PDF–444K

Select item 29862099.

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

Abstract Article PDF–276K

Select item 118193310.

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

Abstract Article PDF–556K

Select item 568814911.

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

Abstract Article PDF–1.7M

Select item 414885212.

Constitutive Gα_i 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

Abstract Article PDF–2.1M

Select item 273381513.

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

Abstract Article PDF–1.1M

Select item 287793014.

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

Abstract Article PDF–3.3M

Select item 394968715.

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

Abstract Article PDF–204K

Select item 427687216.

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

Abstract Article PDF–6.5M

Select item 199560617.

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

Abstract Article PDF–344K

Select item 289116318.

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

Abstract Article PDF–491K

Select item 315335219.

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

Abstract Article PDF–371K

Select item 439468720.

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

Abstract Article PDF–3.0M

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