John P Johnson

John P Johnson

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John P Johnson

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Overrepresentation of pregnancies conceived by artificial reproductive technology in prenatally identified fetuses with Beckwith-Wiedemann syndrome.

J Assist Reprod Genet 2018 Jun 24;35(6):985-992. Epub 2018 Jun 24.

Department of Medical Genetics, Shodair Children's Hospital, PO Box 5539, Helena, MT, 59604-5539, USA.

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http://dx.doi.org/10.1007/s10815-018-1228-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6030004PMC
June 2018

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.

Authors:
Claire Redin Harrison Brand Ryan L Collins Tammy Kammin Elyse Mitchell Jennelle C Hodge Carrie Hanscom Vamsee Pillalamarri Catarina M Seabra Mary-Alice Abbott Omar A Abdul-Rahman Erika Aberg Rhett Adley Sofia L Alcaraz-Estrada Fowzan S Alkuraya Yu An Mary-Anne Anderson Caroline Antolik Kwame Anyane-Yeboa Joan F Atkin Tina Bartell Jonathan A Bernstein Elizabeth Beyer Ian Blumenthal Ernie M H F Bongers Eva H Brilstra Chester W Brown Hennie T Brüggenwirth Bert Callewaert Colby Chiang Ken Corning Helen Cox Edwin Cuppen Benjamin B Currall Tom Cushing Dezso David Matthew A Deardorff Annelies Dheedene Marc D'Hooghe Bert B A de Vries Dawn L Earl Heather L Ferguson Heather Fisher David R FitzPatrick Pamela Gerrol Daniela Giachino Joseph T Glessner Troy Gliem Margo Grady Brett H Graham Cristin Griffis Karen W Gripp Andrea L Gropman Andrea Hanson-Kahn David J Harris Mark A Hayden Rosamund Hill Ron Hochstenbach Jodi D Hoffman Robert J Hopkin Monika W Hubshman A Micheil Innes Mira Irons Melita Irving Jessie C Jacobsen Sandra Janssens Tamison Jewett John P Johnson Marjolijn C Jongmans Stephen G Kahler David A Koolen Jerome Korzelius Peter M Kroisel Yves Lacassie William Lawless Emmanuelle Lemyre Kathleen Leppig Alex V Levin Haibo Li Hong Li Eric C Liao Cynthia Lim Edward J Lose Diane Lucente Michael J Macera Poornima Manavalan Giorgia Mandrile Carlo L Marcelis Lauren Margolin Tamara Mason Diane Masser-Frye Michael W McClellan Cinthya J Zepeda Mendoza Björn Menten Sjors Middelkamp Liya R Mikami Emily Moe Shehla Mohammed Tarja Mononen Megan E Mortenson Graciela Moya Aggie W Nieuwint Zehra Ordulu Sandhya Parkash Susan P Pauker Shahrin Pereira Danielle Perrin Katy Phelan Raul E Piña Aguilar Pino J Poddighe Giulia Pregno Salmo Raskin Linda Reis William Rhead Debra Rita Ivo Renkens Filip Roelens Jayla Ruliera Patrick Rump Samantha L P Schilit Ranad Shaheen Rebecca Sparkes Erica Spiegel Blair Stevens Matthew R Stone Julia Tagoe Joseph V Thakuria Bregje W van Bon Jiddeke van de Kamp Ineke van Der Burgt Ton van Essen Conny M van Ravenswaaij-Arts Markus J van Roosmalen Sarah Vergult Catharina M L Volker-Touw Dorothy P Warburton Matthew J Waterman Susan Wiley Anna Wilson Maria de la Concepcion A Yerena-de Vega Roberto T Zori Brynn Levy Han G Brunner Nicole de Leeuw Wigard P Kloosterman Erik C Thorland Cynthia C Morton James F Gusella Michael E Talkowski

Nat Genet 2017 01 14;49(1):36-45. Epub 2016 Nov 14.

Molecular Neurogenetics Unit, Center for Human Genetic Research, Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1038/ng.3720DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5307971PMC
January 2017

Urinary MicroRNA Profiling Predicts the Development of Microalbuminuria in Patients with Type 1 Diabetes.

J Clin Med 2015 Jul 17;4(7):1498-517. Epub 2015 Jul 17.

Department of Medicine, Renal and Electrolyte Division, University of Pittsburgh, 3550 Terrace Street, Pittsburgh, PA 15261, USA.

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http://dx.doi.org/10.3390/jcm4071498DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4519802PMC
July 2015

Aldosterone regulates microRNAs in the cortical collecting duct to alter sodium transport.

J Am Soc Nephrol 2014 Nov 17;25(11):2445-57. Epub 2014 Apr 17.

Renal-Electrolyte Division, Department of Cell Biology, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania

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http://dx.doi.org/10.1681/ASN.2013090931DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4214524PMC
November 2014

The epithelial sodium channel (ENaC) establishes a trafficking vesicle pool responsible for its regulation.

PLoS One 2012 28;7(9):e46593. Epub 2012 Sep 28.

Department of Medicine, Renal-Electrolyte Division, School of Medicine, University of Pittsburgh, Pittsburgh, Pennsylvania, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0046593PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3460899PMC
February 2013

A deletion 13q34/duplication 14q32.2-14q32.33 syndrome diagnosed 50 years after neonatal presentation as infantile hypercalcemia.

Am J Med Genet A 2011 Apr 15;155A(4):833-9. Epub 2011 Mar 15.

Department of Pediatrics and Pathology, ARUP Laboratories, University of Utah, Salt Lake City, Utah, USA.

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http://dx.doi.org/10.1002/ajmg.a.33876DOI Listing
April 2011

Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project.

Authors:
David M S McHugh Cynthia A Cameron Jose E Abdenur Mahera Abdulrahman Ona Adair Shahira Ahmed Al Nuaimi Henrik Åhlman Jennifer J Allen Italo Antonozzi Shaina Archer Sylvia Au Christiane Auray-Blais Mei Baker Fiona Bamforth Kinga Beckmann Gessi Bentz Pino Stanton L Berberich Robert Binard François Boemer Jim Bonham Nancy N Breen Sandra C Bryant Michele Caggana S Graham Caldwell Marta Camilot Carlene Campbell Claudia Carducci Sandra C Bryant Michele Caggana S Graham Caldwell Marta Camilot Carlene Campbell Claudia Carducci Rohit Cariappa Clover Carlisle Ubaldo Caruso Michela Cassanello Ane Miren Castilla Daisy E Castiñeiras Ramos Pranesh Chakraborty Ram Chandrasekar Alfredo Chardon Ramos David Cheillan Yin-Hsiu Chien Thomas A Childs Petr Chrastina Yuri Cleverthon Sica Jose Angel Cocho de Juan Maria Elena Colandre Veronica Cornejo Espinoza Gaetano Corso Robert Currier Denis Cyr Noemi Czuczy Oceania D'Apolito Tim Davis Monique G de Sain-Van der Velden Carmen Delgado Pecellin Iole Maria Di Gangi Cristina Maria Di Stefano Yannis Dotsikas Melanie Downing Stephen M Downs Bonifacio Dy Mark Dymerski Inmaculada Rueda Bert Elvers Roger Eaton Barbara M Eckerd Fatma El Mougy Sarah Eroh Mercedes Espada Catherine Evans Sandy Fawbush Kristel F Fijolek Lawrence Fisher Leifur Franzson Dianne M Frazier Luciana R C Garcia Maria Sierra García-Valdecasas Bermejo Dimitar Gavrilov Rosemarie Gerace Giuseppe Giordano Yolanda González Irazabal Lawrence C Greed Robert Grier Elyse Grycki Xuefan Gu Fizza Gulamali-Majid Arthur F Hagar Lianshu Han W Harry Hannon Christa Haslip Fayza Abdelhamid Hassan Miao He Amy Hietala Leslie Himstedt Gary L Hoffman William Hoffman Philis Hoggatt Patrick V Hopkins David M Hougaard Kerie Hughes Patricia R Hunt Wuh-Liang Hwu June Hynes Isabel Ibarra-González Cindy A Ingham Maria Ivanova Ward B Jacox Catharine John John P Johnson Jón J Jónsson Eszter Karg David Kasper Brenda Klopper Dimitris Katakouzinos Issam Khneisser Detlef Knoll Hirinori Kobayashi Ronald Koneski Viktor Kozich Rasoul Kouapei Dirk Kohlmueller Ivo Kremensky Giancarlo la Marca Marcia Lavochkin Soo-Youn Lee Denis C Lehotay Aida Lemes Joyce Lepage Barbara Lesko Barry Lewis Carol Lim Sharon Linard Martin Lindner Michele A Lloyd-Puryear Fred Lorey Yannis L Loukas Julie Luedtke Neil Maffitt J Fergall Magee Adrienne Manning Shawn Manos Sandrine Marie Sônia Marchezi Hadachi Gregg Marquardt Stephen J Martin Dietrich Matern Stephanie K Mayfield Gibson Philip Mayne Tonya D McCallister Mark McCann Julie McClure James J McGill Christine D McKeever Barbara McNeilly Mark A Morrissey Paraskevi Moutsatsou Eleanor A Mulcahy Dimitris Nikoloudis Bent Norgaard-Pedersen Devin Oglesbee Mariusz Oltarzewski Daniela Ombrone Jelili Ojodu Vagelis Papakonstantinou Sherly Pardo Reoyo Hyung-Doo Park Marzia Pasquali Elisabetta Pasquini Pallavi Patel Kenneth A Pass Colleen Peterson Rolf D Pettersen James J Pitt Sherry Poh Arnold Pollak Cory Porter Philip A Poston Ricky W Price Cecilia Queijo Jonessy Quesada Edward Randell Enzo Ranieri Kimiyo Raymond John E Reddic Alejandra Reuben Charla Ricciardi Piero Rinaldo Jeff D Rivera Alicia Roberts Hugo Rocha Geraldine Roche Cheryl Rochman Greenberg José María Egea Mellado María Jesús Juan-Fita Consuelo Ruiz Margherita Ruoppolo S Lane Rutledge Euijung Ryu Christine Saban Inderneel Sahai Maria Isabel Salazar García-Blanco Pedro Santiago-Borrero Andrea Schenone Roland Schoos Barb Schweitzer Patricia Scott Margretta R Seashore Mary A Seeterlin David E Sesser Darrin W Sevier Scott M Shone Graham Sinclair Victor A Skrinska Eleanor L Stanley Erin T Strovel April L Studinski Jones Sherlykutty Sunny Zoltan Takats Tijen Tanyalcin Francesca Teofoli J Robert Thompson Kathy Tomashitis Mouseline Torquado Domingos Jasmin Torres Rosario Torres Silvia Tortorelli Sandor Turi Kimberley Turner Nick Tzanakos Alf G Valiente Hillary Vallance Marcela Vela-Amieva Laura Vilarinho Ulrika von Döbeln Marie-Francoise Vincent B Chris Vorster Michael S Watson Dianne Webster Sheila Weiss Bridget Wilcken Veronica Wiley Sharon K Williams Sharon A Willis Michael Woontner Katherine Wright Raquel Yahyaoui Seiji Yamaguchi Melissa Yssel Wendy M Zakowicz

Genet Med 2011 Mar;13(3):230-54

Mayo Clinic College of Medicine, Rochester, Minnesota, USA.

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http://dx.doi.org/10.1097/GIM.0b013e31820d5e67DOI Listing
March 2011

Regulation of epithelial Na+ transport by soluble adenylyl cyclase in kidney collecting duct cells.

J Biol Chem 2009 Feb 6;284(9):5774-83. Epub 2009 Jan 6.

Renal-Electrolyte Division, Department of Medicine, University of Pittsburgh School of Medicine, Pittsburgh, PA 15621, USA.

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http://dx.doi.org/10.1074/jbc.M805501200DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2645828PMC
February 2009

Regulation of the epithelial sodium channel by membrane trafficking.

Am J Physiol Renal Physiol 2009 Jan 28;296(1):F10-24. Epub 2008 May 28.

Dept. of Cell Biology and Physiology, Univ. of Pittsburgh, S375 BST, 3500 Terrace St., Pittsburgh, PA 15261, USA.

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http://dx.doi.org/10.1152/ajprenal.90248.2008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2636908PMC
January 2009

Functional regulation of the epithelial Na+ channel by IkappaB kinase-beta occurs via phosphorylation of the ubiquitin ligase Nedd4-2.

J Biol Chem 2009 Jan 3;284(1):150-7. Epub 2008 Nov 3.

Renal-Electrolyte Division, Department of Medicine, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania 15261, USA.

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http://dx.doi.org/10.1074/jbc.M807358200DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2610498PMC
January 2009

Some assembly required: putting the epithelial sodium channel together.

J Biol Chem 2008 Dec 18;283(51):35305-9. Epub 2008 Aug 18.

Department of Cell Biology, University of Pittsburgh, Pittsburgh, Pennsylvania 15261, USA.

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http://dx.doi.org/10.1074/jbc.R800044200DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2602899PMC
December 2008

USP10: the nexus between nexin and vasopressin.

Am J Physiol Renal Physiol 2008 Oct 30;295(4):F888. Epub 2008 Jul 30.

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http://dx.doi.org/10.1152/ajprenal.90434.2008DOI Listing
October 2008

The epithelial sodium channel (ENaC) traffics to apical membrane in lipid rafts in mouse cortical collecting duct cells.

J Biol Chem 2007 Dec 10;282(52):37402-11. Epub 2007 Oct 10.

Division of Matrix Biology, Department of Medicine, Harvard Medical School, Beth Israel Deaconess Medical Center, Boston, MA 02215, USA.

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http://dx.doi.org/10.1074/jbc.M704084200DOI Listing
December 2007

The deubiquitinating enzyme UCH-L3 regulates the apical membrane recycling of the epithelial sodium channel.

J Biol Chem 2007 Dec 29;282(52):37885-93. Epub 2007 Oct 29.

Department of Cell Biology and Physiology, School of Medicine, University of Pittsburgh, Pittsburgh, PA 15261, USA.

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http://dx.doi.org/10.1074/jbc.M707989200DOI Listing
December 2007

Clathrin-mediated endocytosis of the epithelial sodium channel. Role of epsin.

J Biol Chem 2006 May 30;281(20):14129-35. Epub 2006 Mar 30.

Renal-Electrolyte Division, Department of Medicine, University of Pittsburgh, Pittsburgh, Pennsylvania 15261, USA.

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http://dx.doi.org/10.1074/jbc.M512511200DOI Listing
May 2006

Regulation of epithelial Na+ channels (ENaC) by methylation: a novel methyltransferase stimulates ENaC activity.

J Biol Chem 2006 Apr 8;281(14):9110-7. Epub 2006 Feb 8.

Laboratory of Epithelial Cell Biology, Renal-Electrolyte Division, University of Pittsburgh, Pittsburgh, Pennsylvania 15261, USA.

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http://dx.doi.org/10.1074/jbc.M509232200DOI Listing
April 2006

De novo isodicentric X chromosome: 46,X,idic(X)(q24), and summary of literature.

Am J Med Genet A 2006 Apr;140(8):923-30

Division of Clinical Genetics and Metabolism, The Children's Hospital, University of Colorado School of Medicine, Denver, Colorado 80218, USA.

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http://dx.doi.org/10.1002/ajmg.a.31184DOI Listing
April 2006

Endogenous protease activation of ENaC: effect of serine protease inhibition on ENaC single channel properties.

J Gen Physiol 2005 Oct;126(4):339-52

Department of Cell Biology and Physiology, University of Pittsburgh, Pittsburgh, PA, USA.

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http://dx.doi.org/10.1085/jgp.200509285DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2266620PMC
October 2005

Epithelial sodium channel inhibition by AMP-activated protein kinase in oocytes and polarized renal epithelial cells.

J Biol Chem 2005 May 7;280(18):17608-16. Epub 2005 Mar 7.

Renal-Electrolyte Division, Department of Medicine, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania 15261, USA.

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http://dx.doi.org/10.1074/jbc.M501770200DOI Listing
May 2005

Kidney disease other than renal crisis in patients with diffuse scleroderma.

J Rheumatol 2005 Apr;32(4):649-55

Georgetown University, Washington, DC 20007, USA.

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April 2005

Dizygotic twin pregnancy conceived with assisted reproductive technology associated with chromosomal anomaly, imprinting disorder, and monochorionic placentation.

J Pediatr 2005 Apr;146(4):565-7

Department of Pediatrics, Division of Medical Genetics, University of California-San Francisco, San Francisco, CA, USA.

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http://linkinghub.elsevier.com/retrieve/pii/S002234760401173
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http://dx.doi.org/10.1016/j.jpeds.2004.12.021DOI Listing
April 2005

Acute ENaC stimulation by cAMP in a kidney cell line is mediated by exocytic insertion from a recycling channel pool.

J Gen Physiol 2005 Jan;125(1):81-101

Department of Cell Biology and Physiology, School of Medicine, University of Pittsburgh, Pittsburgh, PA 15261, USA.

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http://dx.doi.org/10.1085/jgp.200409124DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2217480PMC
January 2005

Ikappab kinase-beta (ikkbeta) modulation of epithelial sodium channel activity.

J Biol Chem 2004 Oct 28;279(40):41985-90. Epub 2004 Jul 28.

Renal-Electrolyte Division, Department of Medicine, University of Pittsburgh, Pittsburgh, PA 15261, USA.

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http://dx.doi.org/10.1074/jbc.M403923200DOI Listing
October 2004

Differential current decay profiles of epithelial sodium channel subunit combinations in polarized renal epithelial cells.

J Biol Chem 2004 Jul 27;279(31):32071-8. Epub 2004 May 27.

Laboratory of Epithelial Cell Biology, Renal-Electrolyte Division, Department of Medicine, University of Pittsburgh, Pennsylvania 15261, USA.

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http://dx.doi.org/10.1074/jbc.M405091200DOI Listing
July 2004

Epithelial sodium channels are activated by furin-dependent proteolysis.

J Biol Chem 2004 Apr 7;279(18):18111-4. Epub 2004 Mar 7.

Renal-Electrolyte Division, Department of Medicine, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania 15261, USA.

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http://dx.doi.org/10.1074/jbc.C400080200DOI Listing
April 2004

A child with Angelman syndrome and trisomy 13 findings due to associated paternal UPD 15 and segmental UPD 13.

Am J Med Genet A 2004 Apr;126A(2):208-12

Department of Pediatrics, Division of Genetics and Metabolism, The Children's Hospital, University of Colorado Health Sciences Center, 1056 E. 19th Avenue, B300, Denver, CO 80218, USA.

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http://dx.doi.org/10.1002/ajmg.a.20581DOI Listing
April 2004

Noncoordinate regulation of ENaC: paradigm lost?

Am J Physiol Renal Physiol 2003 Nov;285(5):F833-42

Renal-Electrolyte Division, Department of Medicine, University of Pittsburgh, PA 15261, USA.

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http://dx.doi.org/10.1152/ajprenal.00088.2003DOI Listing
November 2003

Hydrostatic pressure-regulated ion transport in bladder uroepithelium.

Am J Physiol Renal Physiol 2003 Oct 27;285(4):F651-63. Epub 2003 May 27.

Department of Medicine, University of Pittsburgh, Pennsylvania 15261, USA.

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http://dx.doi.org/10.1152/ajprenal.00403.2002DOI Listing
October 2003

Effect of altered Na+ entry on expression of apical and basolateral transport proteins in A6 epithelia.

Am J Physiol Renal Physiol 2003 Sep 13;285(3):F524-31. Epub 2003 May 13.

Department of Medicine, University of Pittsburgh, Pennsylvania 15261, USA.

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http://dx.doi.org/10.1152/ajprenal.00366.2001DOI Listing
September 2003

Levofloxacin-induced granulomatous interstitial nephritis.

Am J Kidney Dis 2003 Feb;41(2):E7

Departments of Medicine and Pathology, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.

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http://dx.doi.org/10.1053/ajkd.2003.50064DOI Listing
February 2003

Aldosterone.

Adv Physiol Educ 2002 Dec;26(1-4):8-20

Department of Physiology, University of Texas Health Science Center San Antonio, San Antonio, Texas 78229-3900, USA.

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http://dx.doi.org/10.1152/advan.00051.2001DOI Listing
December 2002

Renal failure in the ICU: comparison of the impact of acute renal failure and end-stage renal disease on ICU outcomes.

Kidney Int 2002 Sep;62(3):986-96

Department of Critical Care Medicine and Renal-Electrolyte Division, University of Pittsburgh, Pittsburgh, PA 15213, USA.

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http://dx.doi.org/10.1046/j.1523-1755.2002.00509.xDOI Listing
September 2002

Endogenously expressed epithelial sodium channel is present in lipid rafts in A6 cells.

J Biol Chem 2002 Sep 6;277(37):33541-4. Epub 2002 Aug 6.

Laboratory of Epithelial Cell Biology, Renal-Electrolyte Division, A1222 Scaife Hall, University of Pittsburgh School of Medicine, Pittsburgh, PA 15261, USA.

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http://dx.doi.org/10.1074/jbc.C200309200DOI Listing
September 2002

The clinical and morphologic spectrum of renal cryoglobulinemia.

Medicine (Baltimore) 2002 Sep;81(5):398-409

Department of Medicine, University of Pittsburgh Medical Center, Pennsylvania, USA.

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http://dx.doi.org/10.1097/00005792-200209000-00005DOI Listing
September 2002

Effect of immunosuppressive agents on glucocorticoid receptor function in A6 cells.

Am J Physiol Renal Physiol 2002 Aug;283(2):F254-61

Renal-Electrolyte Division, Department of Medicine, University of Pittsburgh, Pittsburgh, Pennsylvania 15213, USA.

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http://dx.doi.org/10.1152/ajprenal.00337.2001DOI Listing
August 2002

A case of segmental paternal isodisomy of chromosome 14.

Hum Genet 2002 Mar 26;110(3):251-6. Epub 2002 Feb 26.

Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Room S801, Houston, TX 77030, USA.

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http://dx.doi.org/10.1007/s00439-002-0688-4DOI Listing
March 2002

Continuous versus intermittent renal replacement therapy: a meta-analysis.

Intensive Care Med 2002 Jan 4;28(1):29-37. Epub 2001 Dec 4.

Department of Anesthesiology and Critical Care Medicine, University of Pittsburgh Medical Center, Division of Critical Care Medicine, 200 Lothrop Street, Pittsburgh, PA 15213-2582, USA.

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http://dx.doi.org/10.1007/s00134-001-1159-4DOI Listing
January 2002

Thyroid hormone in the treatment of post-transplant acute tubular necrosis (ATN).

Am J Transplant 2002 Jan;2(1):57-61

Renal-Electrolyte Division, University of Pittsburgh Medical Center, PA, USA.

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http://dx.doi.org/10.1034/j.1600-6143.2002.020110.xDOI Listing
January 2002

Toward Understanding the Role of Methylation in Aldosterone-Sensitive Na(+) Transport.

News Physiol Sci 2000 Aug;15:161-165

D. Stockand is in the Department of Physiology, University of Texas Health Science Center San Antonio, San Antonio, Texas 78284-7756.

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http://dx.doi.org/10.1152/physiologyonline.2000.15.4.161DOI Listing
August 2000