PMC Links for Nucleotide (Select 1675068496) - PMC

Select item 58055831.

A non-coding variant in GANAB explains isolated polycystic liver disease (PCLD) in a large family

Whitney Besse, Jungmin Choi, Dina Ahram, Shrikant Mane, Simone Sanna-Cherchi, Vicente Torres, Stefan Somlo

Hum Mutat. Author manuscript; available in PMC 2019 Mar 1.

Published in final edited form as: Hum Mutat. 2018 Mar; 39(3): 378–382. Published online 2018 Jan 24. doi: 10.1002/humu.23383

PMCID:: PMC5805583

Abstract Article PDF–636K

Select item 56287132.

A Patient with a Novel Gene Mutation Leading to Autosomal Dominant Polycystic Kidney Disease

Bharathi V. Reddy, Arlene B. Chapman

Clin J Am Soc Nephrol. 2017 Oct 6; 12(10): 1695–1698. Published online 2017 Aug 7. doi: 10.2215/CJN.02830317

PMCID:: PMC5628713

Article

Select item 54091053.

Isolated polycystic liver disease genes define effectors of polycystin-1 function

Whitney Besse, Ke Dong, Jungmin Choi, Sohan Punia, Sorin V. Fedeles, Murim Choi, Anna-Rachel Gallagher, Emily B. Huang, Ashima Gulati, James Knight, Shrikant Mane, Esa Tahvanainen, Pia Tahvanainen, Simone Sanna-Cherchi, Richard P. Lifton, Terry Watnick, York P. Pei, Vicente E. Torres, Stefan Somlo

J Clin Invest. 2017 May 1; 127(5): 1772–1785. Published online 2017 Apr 4. doi: 10.1172/JCI90129

Correction in:: J Clin Invest. 2017 Sep 1; 127(9): 3558.

PMCID:: PMC5409105

Abstract Article PDF–2.5M

Select item 49081914.

Mutations in GANAB, Encoding the Glucosidase IIα Subunit, Cause Autosomal-Dominant Polycystic Kidney and Liver Disease

Binu Porath, Vladimir G. Gainullin, Emilie Cornec-Le Gall, Elizabeth K. Dillinger, Christina M. Heyer, Katharina Hopp, Marie E. Edwards, Charles D. Madsen, Sarah R. Mauritz, Carly J. Banks, Saurabh Baheti, Bharathi Reddy, José Ignacio Herrero, Jesús M. Bañales, Marie C. Hogan, Velibor Tasic, Terry J. Watnick, Arlene B. Chapman, Cécile Vigneau, Frédéric Lavainne, Marie-Pierre Audrézet, Claude Ferec, Yannick Le Meur, Vicente E. Torres, Genkyst Study Group, HALT Progression of Polycystic Kidney Disease Group, Consortium for Radiologic Imaging Studies of Polycystic Kidney Disease, Peter C. Harris

Am J Hum Genet. 2016 Jun 2; 98(6): 1193–1207. Published online 2016 Jun 2. doi: 10.1016/j.ajhg.2016.05.004

PMCID:: PMC4908191

Abstract Article PDF–2.7M

Select item 43982815.

Impact of exposure to low concentrations of nitric oxide on protein profile in murine and human pancreatic islet cells

Rafael Tapia-Limonchi, Irene Díaz, Gladys M Cahuana, Mario Bautista, Franz Martín, Bernat Soria, Juan R Tejedo, Francisco J Bedoya

Islets. 2014; 6(5-6): e995997. Published online 2015 Feb 6. doi: 10.1080/19382014.2014.995997

PMCID:: PMC4398281

Abstract Article PDF–1.1M

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