PMC Links for Nucleotide (Select 1786546519) - PMC

Select item 50656431.

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 49228602.

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

Abstract Article PDF–6.1M

Select item 42292113.

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 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 4036976.

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

Correction in:: Genome Res. 2003 Dec; 13(12): 2759.

PMCID:: PMC403697

Abstract Article PDF–120K

Select item 58467717.

High-resolution detection of chromosomal rearrangements in leukemias through mate pair whole genome sequencing

Anh Nhi Tran, Fulya Taylan, Vasilios Zachariadis, Ingegerd Ivanov Öfverholm, Anna Lindstrand, Francesco Vezzi, Britta Lötstedt, Magnus Nordenskjöld, Ann Nordgren, Daniel Nilsson, Gisela Barbany

PLoS One. 2018; 13(3): e0193928. Published online 2018 Mar 12. doi: 10.1371/journal.pone.0193928

PMCID:: PMC5846771

Abstract Article PDF–4.2M

Select item 38999548.

Gene Expressions for Signal Transduction under Acidic Conditions

Toshihiko Fukamachi, Syunsuke Ikeda, Xin Wang, Hiromi Saito, Masatoshi Tagawa, Hiroshi Kobayashi

Genes (Basel) 2013 Mar; 4(1): 65–85. Published online 2013 Mar 8. doi: 10.3390/genes4010065

PMCID:: PMC3899954

Abstract Article PDF–198K

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