PMC Links for Gene (Select 168507) - PMC

Select item 49228601.

Atypical calcium regulation of the PKD2-L1 polycystin ion channel

Paul G DeCaen, Xiaowen Liu, Sunday Abiria, David E Clapham

eLife. 2016; 5: e13413. Published online 2016 Jun 27. doi: 10.7554/eLife.13413

PMCID:: PMC4922860

Select item 50656432.

Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans

Francesco Vetrini, Lisa C.A. D’Alessandro, Zeynep C. Akdemir, Alicia Braxton, Mahshid S. Azamian, Mohammad K. Eldomery, Kathryn Miller, Chelsea Kois, Virginia Sack, Natasha Shur, Asha Rijhsinghani, Jignesh Chandarana, Yan Ding, Judy Holtzman, Shalini N. Jhangiani, Donna M. Muzny, Richard A. Gibbs, Christine M. Eng, Neil A. Hanchard, Tamar Harel, Jill A. Rosenfeld, John W. Belmont, James R. Lupski, Yaping Yang

Am J Hum Genet. 2016 Oct 6; 99(4): 886–893. Published online 2016 Sep 8. doi: 10.1016/j.ajhg.2016.07.011

PMCID:: PMC5065643

Abstract Article PDF–1.3M

Select item 108146853.

PKD1L1 Is Involved in Congenital Chylothorax

Jonathan B. Whitchurch, Sophia Schneider, Alina C. Hilger, Ricarda Köllges, Jil D. Stegmann, Lea Waffenschmidt, Laura Dyer, Holger Thiele, Bhanupriya Dhabhai, Tikam Chand Dakal, Andreas Müller, Dominic P. Norris, Heiko M. Reutter

Cells. 2024 Jan; 13(2): 149. Published online 2024 Jan 12. doi: 10.3390/cells13020149

PMCID:: PMC10814685

Abstract Article PDF–13M

Select item 40736464.

Direct recording and molecular identification of the calcium channel of primary cilia

Paul G. DeCaen, Markus Delling, Thuy N. Vien, David E. Clapham

Nature. Author manuscript; available in PMC 2014 Jun 27.

Published in final edited form as: Nature. 2013 Dec 12; 504(7479): 315–318. doi: 10.1038/nature12832

Correction in:: volume 513 on page 266

PMCID:: PMC4073646

Abstract Article PDF–2.2M

Select item 37569355.

Genome-Wide Association Study Identifies Variants Associated with Progression of Liver Fibrosis from HCV Infection

ETIENNE PATIN, ZOLTÁN KUTALIK, JULIEN GUERGNON, STÉPHANIE BIBERT, BERTRAND NALPAS, EMMANUELLE JOUANGUY, MONA MUNTEANU, LAURENCE BOUSQUET, LAURENT ARGIRO, PHILIPPE HALFON, ANNE BOLAND, BEAT MÜLLHAUPT, DAVID SEMELA, JEAN-FRANÇOIS DUFOUR, MARKUS H. HEIM, DARIUS MORADPOUR, ANDREAS CERNY, RAFFAELE MALINVERNI, HANS HIRSCH, GLADYS MARTINETTI, VIJAYAPRAKASH SUPPIAH, GRAEME STEWART, DAVID R. BOOTH, JACOB GEORGE, JEAN-LAURENT CASANOVA, CHRISTIAN BRÉCHOT, CHARLES M. RICE, ANDREW H. TALAL, IRA M. JACOBSON, MARC BOURLIÈRE, IOANNIS THEODOROU, THIERRY POYNARD, FRANCESCO NEGRO, STANISLAS POL, PIERRE-YVES BOCHUD, LAURENT ABEL

Gastroenterology. Author manuscript; available in PMC 2013 Nov 1.

Published in final edited form as: Gastroenterology. 2012 Nov; 143(5): 1244–52.e1-12. Published online 2012 Jul 27. doi: 10.1053/j.gastro.2012.07.097

PMCID:: PMC3756935

Abstract Article PDF–903K

Select item 42292116.

Genome-Wide and Gene-Based Association Studies of Anxiety Disorders in European and African American Samples

Takeshi Otowa, Brion S. Maher, Steven H. Aggen, Joseph L. McClay, Edwin J. van den Oord, John M. Hettema

PLoS One. 2014; 9(11): e112559. Published online 2014 Nov 12. doi: 10.1371/journal.pone.0112559

PMCID:: PMC4229211

Abstract Article PDF–211K

Select item 62832937.

Discovery of a Human Testis-specific Protein Complex TEX101-DPEP3 and Selection of Its Disrupting Antibodies

Christina Schiza, Dimitrios Korbakis, Efstratia Panteleli, Keith Jarvi, Andrei P. Drabovich, Eleftherios P. Diamandis

Mol Cell Proteomics. 2018 Dec; 17(12): 2480–2495. Published online 2018 Aug 10. doi: 10.1074/mcp.RA118.000749

PMCID:: PMC6283293

Abstract Article PDF–1.9M

Select item 55335858.

The human cytoplasmic dynein interactome reveals novel activators of motility

William B Redwine, Morgan E DeSantis, Ian Hollyer, Zaw Min Htet, Phuoc Tien Tran, Selene K Swanson, Laurence Florens, Michael P Washburn, Samara L Reck-Peterson

eLife. 2017; 6: e28257. Published online 2017 Jul 18. doi: 10.7554/eLife.28257

PMCID:: PMC5533585

Abstract Article PDF–5.9M

Select item 4036979.

The Secreted Protein Discovery Initiative (SPDI), a Large-Scale Effort to Identify Novel Human Secreted and Transmembrane Proteins: A Bioinformatics Assessment

Hilary F. Clark, Austin L. Gurney, Evangeline Abaya, Kevin Baker, Daryl Baldwin, Jennifer Brush, Jian Chen, Bernard Chow, Clarissa Chui, Craig Crowley, Bridget Currell, Bethanne Deuel, Patrick Dowd, Dan Eaton, Jessica Foster, Christopher Grimaldi, Qimin Gu, Philip E. Hass, Sherry Heldens, Arthur Huang, Hok Seon Kim, Laura Klimowski, Yisheng Jin, Stephanie Johnson, James Lee, Lhney Lewis, Dongzhou Liao, Melanie Mark, Edward Robbie, Celina Sanchez, Jill Schoenfeld, Somasekar Seshagiri, Laura Simmons, Jennifer Singh, Victoria Smith, Jeremy Stinson, Alicia Vagts, Richard Vandlen, Colin Watanabe, David Wieand, Kathryn Woods, Ming-Hong Xie, Daniel Yansura, Sothy Yi, Guoying Yu, Jean Yuan, Min Zhang, Zemin Zhang, Audrey Goddard, William I. Wood, Paul Godowski

Genome Res. 2003 Oct; 13(10): 2265–2270. doi: 10.1101/gr.1293003