Ali G Gharavi

Ali G Gharavi

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Ali G Gharavi

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Genomic Mismatch at Locus and Kidney Allograft Rejection.

N Engl J Med 2019 05;380(20):1918-1928

From the Department of Medicine, Division of Nephrology (N.J.S., Y.L., J.A.D., C.F., L.L., K.X., Y.-J.N., Y.D.N., J.Y.Z., R.S., O.B., D.B., N.O., F.O., S.G., K.M., J.W., S.M., J.R., D.J.C., J.B., A.G.G., K.K.), the Department of Surgery (L.E.R.), and the Department of Pathology and Cell Biology (E.-R.M.V., G.V., V.D.), Vagelos College of Physicians and Surgeons, and the Departments of Epidemiology (S.M.) and Biostatistics (I.I.-L.), Mailman School of Public Health, Columbia University, New York; Immunogenetics and Biology of Transplantation, Città della Salute e della Scienza, University Hospital of Turin, and Medical Genetics, Department of Medical Sciences, University of Turin, Turin (Z.D., S.D., A.A.), and the Division of Nephrology, Azienda Ospedaliera Spedali Civili of Brescia, Montichiari Hospital, University of Brescia, Brescia (F.S.) - all in Italy; the Department of Pathology, M.D. Anderson Cancer Center, Houston (F.Z.J.); the Division of Genetics and Genomics, Boston Children's Hospital, and the Department of Medical Oncology, Dana-Farber Cancer Institute, Boston (M.R.); the Department of Pediatrics, Division of Pediatric Nephrology, University of Michigan School of Medicine, Ann Arbor (C.E.G., M.G.S.); the Department of Medicine, Renal, Electrolyte, and Hypertension Division, University of Pennsylvania, Philadelphia (Y.-A.K., K.S.); the Division of Nephrology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey (Y.C.); the Nephrology Research Group, Queen's University of Belfast, Belfast, United Kingdom (A.E.C., A.P.M., A.J.M.); and the Department of Internal Medicine, Division of Nephrology (S.J.L.B., M.H.B.), and the Department of Epidemiology, Unit of Genetic Epidemiology and Bioinformatics (H.S.), University of Groningen, University Medical Center Groningen, Groningen, the Netherlands.

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http://dx.doi.org/10.1056/NEJMoa1803731DOI Listing
May 2019

Author Correction: The copy number variation landscape of congenital anomalies of the kidney and urinary tract.

Nat Genet 2019 04;51(4):764

Division of Nephrology, Department of Medicine, Columbia University, New York, NY, USA.

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http://dx.doi.org/10.1038/s41588-019-0376-0DOI Listing
April 2019

Expanding opportunities and emerging challenges: broadening the scope of genetic testing in nephrology.

Kidney Int 2019 Apr;95(4):743-746

Department of Medicine, Division of Nephrology, Columbia University, New York, New York, USA; Institute for Genomic Medicine, Columbia University, New York, New York, USA. Electronic address:

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http://dx.doi.org/10.1016/j.kint.2018.12.032DOI Listing
April 2019

Precision Medicine in Internal Medicine.

Ann Intern Med 2019 Apr 30. Epub 2019 Apr 30.

College of Physicians and Surgeons, Columbia University, New York, New York (K.K., D.B.G., A.G.G., R.W., W.K.C.).

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http://dx.doi.org/10.7326/M18-0425DOI Listing
April 2019

Donor's APOL1 Risk Genotype and "Second Hits" Associated With De Novo Collapsing Glomerulopathy in Deceased Donor Kidney Transplant Recipients: A Report of 5 Cases.

Am J Kidney Dis 2019 Jan 25;73(1):134-139. Epub 2018 Jul 25.

Division of Nephrology, Department of Medicine, Columbia University College of Physicians and Surgeons, New York, NY; Columbia University Renal Epidemiology (CURE) Group and Department of Epidemiology, Columbia University Mailman School of Public Health, New York, NY.

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http://dx.doi.org/10.1053/j.ajkd.2018.05.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6309648PMC
January 2019

The copy number variation landscape of congenital anomalies of the kidney and urinary tract.

Nat Genet 2019 01 21;51(1):117-127. Epub 2018 Dec 21.

Division of Nephrology, Department of Medicine, Columbia University, New York, NY, USA.

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http://www.nature.com/articles/s41588-018-0281-y
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http://dx.doi.org/10.1038/s41588-018-0281-yDOI Listing
January 2019

Diagnostic Utility of Exome Sequencing for Kidney Disease.

N Engl J Med 2019 01 26;380(2):142-151. Epub 2018 Dec 26.

From the Departments of Medicine (E.E.G., M.M., H.M.-R., Y.L., J.Z., J.N., P.K., W.Y.L., A.M., S. Piva, B.H.K., D.C., R.R., D.B., M.D., H.S., X.M., K.M., O.B., J.R., P.C., G.B.A., A.S.B., W.A., D.J.C., R.J.C., G.K.D., M.K.R., S.M., S.S.-C., K.K., A.G.G.) and Pediatrics (N.S.U.), Division of Nephrology, the Departments of Pathology (V.S.A.), Biomedical Informatics (D.A.F., C.W.), and Urology (S.A.), the Institute for Genomic Medicine (S.K., B.C., Z.R., J.B., C.D.M., C.M.M., N.D., D.B.G., A.G.G.) and the Department of Genetics and Development (D.B.G.), Hammer Health Sciences, and the Department of Epidemiology, Mailman School of Public Health (S.M.), Columbia University, New York; AstraZeneca Centre for Genomics Research, Precision Medicine and Genomics, Innovative Medicines and Early Development (IMED) Biotech Unit, Cambridge, United Kingdom (S.C.-C., S. Petrovski, C.H., J.F., R.M., A.P.); and the Department of Medical Science, Renal Unit, Uppsala University Hospital, Uppsala, Sweden (B.C.F.).

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http://www.nejm.org/doi/10.1056/NEJMoa1806891
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http://dx.doi.org/10.1056/NEJMoa1806891DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6510541PMC
January 2019

Trans-ethnic kidney function association study reveals putative causal genes and effects on kidney-specific disease aetiologies.

Nat Commun 2019 01 3;10(1):29. Epub 2019 Jan 3.

Department of Epidemiology, University of North Carolina, Chapel Hill, NC, 27516-8050, USA.

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http://www.nature.com/articles/s41467-018-07867-7
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http://dx.doi.org/10.1038/s41467-018-07867-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6318312PMC
January 2019

Cellular recording devices imprint the history of the cell.

Nat Rev Nephrol 2018 Aug;14(8):477-478

Division of Nephrology, Department of Medicine, Columbia University Medical Center, Russ Berrie Pavilion, New York, NY, USA.

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http://dx.doi.org/10.1038/s41581-018-0012-8DOI Listing
August 2018

Deep Phenotyping on Electronic Health Records Facilitates Genetic Diagnosis by Clinical Exomes.

Am J Hum Genet 2018 07 28;103(1):58-73. Epub 2018 Jun 28.

Department of Biomedical Informatics, Columbia University, New York, NY 10032, USA; Institute for Genomic Medicine, Columbia University, New York, NY 10032, USA; Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Biomedical and Health Informatics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.05.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6035281PMC
July 2018

Whole-Exome Sequencing in Adults With Chronic Kidney Disease.

Ann Intern Med 2018 Jul;169(2):132-133

Columbia University, New York, New York (K.K., E.G., H.R., A.G.G.).

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http://dx.doi.org/10.7326/L18-0207DOI Listing
July 2018

Mycophenolate Mofetil in Combination with Steroids for Treatment of C3 Glomerulopathy: A Case Series.

Clin J Am Soc Nephrol 2018 Mar 11;13(3):406-413. Epub 2018 Jan 11.

Division of Nephrology, Department of Medicine, Columbia University Medical Center, New York, New York; and.

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http://dx.doi.org/10.2215/CJN.09080817DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5967675PMC
March 2018

Towards precision nephrology: the opportunities and challenges of genomic medicine.

J Nephrol 2018 02 17;31(1):47-60. Epub 2017 Oct 17.

Division of Nephrology, Department of Medicine, College of Physicians and Surgeons, Columbia University, 1150 St. Nicholas Ave, Room 413, New York, NY, 10032, USA.

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http://dx.doi.org/10.1007/s40620-017-0448-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5777884PMC
February 2018

Serum Response Factor Is Essential for Maintenance of Podocyte Structure and Function.

J Am Soc Nephrol 2018 Feb 7;29(2):416-422. Epub 2017 Nov 7.

Aab Cardiovascular Research Institute, University of Rochester School of Medicine and Dentistry, Rochester, New York;

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http://dx.doi.org/10.1681/ASN.2017050473DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5791050PMC
February 2018

Genomic medicine for kidney disease.

Nat Rev Nephrol 2018 Feb 8;14(2):83-104. Epub 2018 Jan 8.

Division of Nephrology, Columbia University College of Physicians and Surgeons, 1150 Saint Nicholas Avenue, Russ Berrie Pavilion #412C, New York, New York 10032, USA.

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http://www.nature.com/doifinder/10.1038/nrneph.2017.167
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http://dx.doi.org/10.1038/nrneph.2017.167DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5997488PMC
February 2018

Whole-Exome Sequencing in Adults With Chronic Kidney Disease: A Pilot Study.

Ann Intern Med 2018 01 5;168(2):100-109. Epub 2017 Dec 5.

From Columbia University, New York, New York; VU University Medical Center, Amsterdam, the Netherlands; Nephrology Associates, Newark, Delaware; Krysiewicza Children's Hospital, Poznań, Poland; Poznań University of Medical Sciences and Center for Medical Genetics GENESIS, Poznań, Poland; IRCCS Giannina Gaslini Children's Hospital, Genova, Italy; IRCCS San Raffaele Scientific Institute, Milan, Italy; New York University School of Medicine, New York, New York; University of Texas Southwestern Medical Center, Dallas, Texas; and French Institute of Health and Medical Research (INSERM) U1163, Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, and Necker Hospital, Paris, France.

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http://dx.doi.org/10.7326/M17-1319DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5947852PMC
January 2018

Genetic basis of human congenital anomalies of the kidney and urinary tract.

J Clin Invest 2018 01 2;128(1):4-15. Epub 2018 Jan 2.

Division of Nephrology, Department of Medicine, Columbia University College of Physicians and Surgeons, New York, New York, USA.

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http://dx.doi.org/10.1172/JCI95300DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5749511PMC
January 2018

Genomic Disorders and Neurocognitive Impairment in Pediatric CKD.

J Am Soc Nephrol 2017 Aug 27;28(8):2303-2309. Epub 2017 Mar 27.

Division of Nephrology, College of Physicians and Surgeons, Columbia University, New York, New York;

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http://dx.doi.org/10.1681/ASN.2016101108DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5533237PMC
August 2017

Refinement of the HIVAN1 Susceptibility Locus on Chr. 3A1-A3 via Generation of Sub-Congenic Strains.

PLoS One 2016 13;11(10):e0163860. Epub 2016 Oct 13.

Department of Medicine, Columbia University, New York, New York, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0163860PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5063463PMC
May 2017

Genetic Drivers of Kidney Defects in the DiGeorge Syndrome.

N Engl J Med 2017 02 25;376(8):742-754. Epub 2017 Jan 25.

From the Division of Nephrology (E.L.-R., M.V., V.P.C., Z.Y., A.M., J.M., N.J.S., D.A.F., R.D., M.W., G.S.M., M.B., J.M.B., K.K., A.G.G., S.S.-C.) and the Division of Nephrology in Medicine and Zuckerman Mind Brain Behavior Institute (B.H.), the Departments of Systems Biology (D.S.P., B.H.), Biochemistry and Molecular Biophysics (B.H.), and Pathology (V.D.), and the Howard Hughes Medical Institute (D.S.P., B.H.), Columbia University, and the Department of Genetics and Development, Columbia University Medical Center (Q.L., V.E.P.), New York, and the Department of Genetics, Albert Einstein College of Medicine, Bronx (S.E.R., B.E.M.) - all in New York; the Center for Human Disease Modeling, Duke University, Durham, NC (Y.P.L., B.R.A., N. Katsanis); the Departments of Internal Medicine-Nephrology (E.A.O.) and Pediatrics-Nephrology (M.G.S., C.E.G., V.V.-W.), University of Michigan School of Medicine, Ann Arbor; the Department of Anatomy, Histology, and Embryology, School of Medicine, University of Split (K.V., M.S.-B.), and the Departments of Pediatrics (A.A., M. Saraga) and Pathology (N. Kunac), University Hospital of Split, Split, Croatia; the Department of Pediatric Nephrology, VU University Medical Center, Amsterdam (R.W., J.A.E.W.); the Department of Medicine, Boston Children's Hospital (A.V., F.H.), and Harvard Medical School, Boston (A.V., F.H., I.A.D.), and the Nephrology Division, Massachusetts General Hospital, Charlestown (I.A.D.) - all in Massachusetts; the Division of Nephrology, Dialysis, Transplantation, and Laboratory on Pathophysiology of Uremia, Istituto G. Gaslini, Genoa (M.B., A.C., G.M.G.), the Department of Clinical and Experimental Medicine, University of Parma (M.B., M. Maiorana, L.A.), and the Pediatric Surgery Unit, University Hospital of Parma (E.C.), Parma, the Section of Nephrology, Department of Emergency and Organ Transplantation, University of Bari, Bari (L.G.), the Department of Medical Sciences, University of Milano, and Institute of Biomedical Technologies, Italian National Institute of Research ITB-CNR, Milan (D.C.), and Dipartimento Ostetrico-Ginecologico e Seconda Divisione di Nefrologia ASST Spedali Civili e Presidio di Montichiari (C.I.) and Cattedra di Nefrologia, Università di Brescia, Seconda Divisione di Nefrologia Azienda Ospedaliera Spedali Civili di Brescia Presidio di Montichiari (F.S.), Brescia - all in Italy; the Department of General and Transplant Surgery, University Hospital of Heidelberg, Germany (V.J.L.); the Department of Pediatric Nephrology, Centre de Référence des Maladies Rénales Héréditaires de l'Enfant et de l'Adulte (R.S., L.H., C.J.), INSERM UMR 1163, Laboratory of Hereditary Kidney Diseases (R.S.), Necker-Enfants Malades Hospital, Paris Descartes-Sorbonne Paris Cite University, Imagine Institute (R.S.), Sorbonne Universités, UPMC 06, Plateforme Post-génomique de la Pitié-Salpêtrière, UMS 2 Omique, Inserm US029 (W.C.), Paris, and the Department of Genetics, Centre Hospitalier Universitaire de Reims, Unité de Formation et de Recherche de Médecine, Reims (D.G.) - both in France; the Department of Neurology, University of Washington School of Medicine, and Northwest VA Parkinson's Disease Research, Education and Clinical Centers, Seattle (A. Samii); the Division of Human Genetics, Department of Pediatrics, 22q and You Center, Children's Hospital of Philadelphia and Perelman School of Medicine at the University of Pennsylvania (D.M.M.-M., T.B.C., E.H.Z., S.L.F.), Division of Nephrology, Children's Hospital of Philadelphia (S.L.F.), and the Department of Genetics, University of Pennsylvania (H.H.), Philadelphia; the Dialysis Unit, Jagiellonian University Medical College (D.D.), and the Department of Pediatric Nephrology, Jagiellonian University Medical College (M. Miklaszewska), Krakow, the Department of Pediatrics, Immunology and Nephrology, Polish Mother's Memorial Hospital Research Institute, Lodz (M.T.), the Department of Pediatric Nephrology Medical University of Lublin, Lublin (P.S.), the Department of Pediatrics, School of Medicine with the Division of Dentistry in Zabrze, Medical University of Silesia, Katowice (M. Szczepanska), the Department of Pediatrics and Nephrology, Medical University of Warsaw, Warsaw (M.M.-W., G.K., A. Szmigielska), and Krysiewicza Children's Hospital (M.Z.) and the Department of Medical Genetics, Poznan University of Medical Sciences, and Center for Medical Genetics GENESIS (A.L.-B., A.M.-K.), Poznań - all in Poland; the Department of Clinical Genetics (J.M.D., D.B.), National Children's Research Centre (J.M.D., P.P.), and University College Dublin School of Medicine (D.B.), Our Lady's Children's Hospital Crumlin, and the National Children's Hospital Tallaght (P.P.), Dublin, Ireland; the Division of Pediatric Nephrology, Children's Mercy Hospital, Kansas City, MO (B.A.W.); University Children's Hospital, Medical Faculty of Skopje, Skopje, Macedonia (Z.G., V.T.); Faculty of Medicine, Palacky University, Olomouc, Czech Republic (H.F.); the Division of Pediatric Nephrology, University of New Mexico Children's Hospital, Albuquerque (C.S.W.); Ben May Department for Cancer Research, University of Chicago, Chicago (A.I.); and the Department of Genetics, Howard Hughes Medical Institute, and Yale Center for Mendelian Genomics, Yale University, New Haven, CT (R.P.L.).

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http://dx.doi.org/10.1056/NEJMoa1609009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5559731PMC
February 2017

Fine Mapping Implicates a Deletion of CFHR1 and CFHR3 in Protection from IgA Nephropathy in Han Chinese.

J Am Soc Nephrol 2016 Oct 3;27(10):3187-3194. Epub 2016 Mar 3.

Department of Medicine, Division of Nephrology, College of Physicians and Surgeons, Columbia University, New York, New York; and

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http://dx.doi.org/10.1681/ASN.2015111210DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5042673PMC
October 2016

Genome-wide association study in mice identifies loci affecting liver-related phenotypes including Sel1l influencing serum bile acids.

Hepatology 2016 06 24;63(6):1943-56. Epub 2016 Mar 24.

Department of Medicine, College of Physicians and Surgeons, Columbia University, New York, NY.

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http://dx.doi.org/10.1002/hep.28495DOI Listing
June 2016

Novel mutations in the inverted formin 2 gene of Chinese families contribute to focal segmental glomerulosclerosis.

Kidney Int 2015 Sep 3;88(3):593-604. Epub 2015 Jun 3.

Department of Nephrology, Shanghai Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.

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http://dx.doi.org/10.1038/ki.2015.106DOI Listing
September 2015

Diagnosing kidney disease in the genetic era.

Curr Opin Nephrol Hypertens 2015 Jul;24(4):380-7

aDepartment of Medicine, Division of Nephrology, College of Physicians and Surgeons, Columbia University, New York, USA bRutgers Biomedical Health Sciences-NJMS, Newark, New Jersey, USA.

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http://dx.doi.org/10.1097/MNH.0000000000000139DOI Listing
July 2015

Variants in Complement Factor H and Complement Factor H-Related Protein Genes, CFHR3 and CFHR1, Affect Complement Activation in IgA Nephropathy.

J Am Soc Nephrol 2015 May 9;26(5):1195-204. Epub 2014 Sep 9.

Renal Division, Department of Medicine, Peking University First Hospital, Beijing, China; Institute of Nephrology, Peking University, Beijing, China; Key Laboratory of Renal Disease, Ministry of Health of China, Beijing, China; Key Laboratory of Chronic Kidney Disease Prevention and Treatment (Peking University), Ministry of Education, Beijing, China;

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http://dx.doi.org/10.1681/ASN.2014010096DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4413755PMC
May 2015

New genetic loci link adipose and insulin biology to body fat distribution.

Authors:
Dmitry Shungin Thomas W Winkler Damien C Croteau-Chonka Teresa Ferreira Adam E Locke Reedik Mägi Rona J Strawbridge Tune H Pers Krista Fischer Anne E Justice Tsegaselassie Workalemahu Joseph M W Wu Martin L Buchkovich Nancy L Heard-Costa Tamara S Roman Alexander W Drong Ci Song Stefan Gustafsson Felix R Day Tonu Esko Tove Fall Zoltán Kutalik Jian'an Luan Joshua C Randall André Scherag Sailaja Vedantam Andrew R Wood Jin Chen Rudolf Fehrmann Juha Karjalainen Bratati Kahali Ching-Ti Liu Ellen M Schmidt Devin Absher Najaf Amin Denise Anderson Marian Beekman Jennifer L Bragg-Gresham Steven Buyske Ayse Demirkan Georg B Ehret Mary F Feitosa Anuj Goel Anne U Jackson Toby Johnson Marcus E Kleber Kati Kristiansson Massimo Mangino Irene Mateo Leach Carolina Medina-Gomez Cameron D Palmer Dorota Pasko Sonali Pechlivanis Marjolein J Peters Inga Prokopenko Alena Stančáková Yun Ju Sung Toshiko Tanaka Alexander Teumer Jana V Van Vliet-Ostaptchouk Loïc Yengo Weihua Zhang Eva Albrecht Johan Ärnlöv Gillian M Arscott Stefania Bandinelli Amy Barrett Claire Bellis Amanda J Bennett Christian Berne Matthias Blüher Stefan Böhringer Fabrice Bonnet Yvonne Böttcher Marcel Bruinenberg Delia B Carba Ida H Caspersen Robert Clarke E Warwick Daw Joris Deelen Ewa Deelman Graciela Delgado Alex Sf Doney Niina Eklund Michael R Erdos Karol Estrada Elodie Eury Nele Friedrich Melissa E Garcia Vilmantas Giedraitis Bruna Gigante Alan S Go Alain Golay Harald Grallert Tanja B Grammer Jürgen Gräßler Jagvir Grewal Christopher J Groves Toomas Haller Goran Hallmans Catharina A Hartman Maija Hassinen Caroline Hayward Kauko Heikkilä Karl-Heinz Herzig Quinta Helmer Hans L Hillege Oddgeir Holmen Steven C Hunt Aaron Isaacs Till Ittermann Alan L James Ingegerd Johansson Thorhildur Juliusdottir Ioanna-Panagiota Kalafati Leena Kinnunen Wolfgang Koenig Ishminder K Kooner Wolfgang Kratzer Claudia Lamina Karin Leander Nanette R Lee Peter Lichtner Lars Lind Jaana Lindström Stéphane Lobbens Mattias Lorentzon François Mach Patrik Ke Magnusson Anubha Mahajan Wendy L McArdle Cristina Menni Sigrun Merger Evelin Mihailov Lili Milani Rebecca Mills Alireza Moayyeri Keri L Monda Simon P Mooijaart Thomas W Mühleisen Antonella Mulas Gabriele Müller Martina Müller-Nurasyid Ramaiah Nagaraja Michael A Nalls Narisu Narisu Nicola Glorioso Ilja M Nolte Matthias Olden Nigel W Rayner Frida Renstrom Janina S Ried Neil R Robertson Lynda M Rose Serena Sanna Hubert Scharnagl Salome Scholtens Bengt Sennblad Thomas Seufferlein Colleen M Sitlani Albert Vernon Smith Kathleen Stirrups Heather M Stringham Johan Sundström Morris A Swertz Amy J Swift Ann-Christine Syvänen Bamidele O Tayo Barbara Thorand Gudmar Thorleifsson Andreas Tomaschitz Chiara Troffa Floor Va van Oort Niek Verweij Judith M Vonk Lindsay L Waite Roman Wennauer Tom Wilsgaard Mary K Wojczynski Andrew Wong Qunyuan Zhang Jing Hua Zhao Eoin P Brennan Murim Choi Per Eriksson Lasse Folkersen Anders Franco-Cereceda Ali G Gharavi Åsa K Hedman Marie-France Hivert Jinyan Huang Stavroula Kanoni Fredrik Karpe Sarah Keildson Krzysztof Kiryluk Liming Liang Richard P Lifton Baoshan Ma Amy J McKnight Ruth McPherson Andres Metspalu Josine L Min Miriam F Moffatt Grant W Montgomery Joanne M Murabito George Nicholson Dale R Nyholt Christian Olsson John Rb Perry Eva Reinmaa Rany M Salem Niina Sandholm Eric E Schadt Robert A Scott Lisette Stolk Edgar E Vallejo Harm-Jan Westra Krina T Zondervan Philippe Amouyel Dominique Arveiler Stephan Jl Bakker John Beilby Richard N Bergman John Blangero Morris J Brown Michel Burnier Harry Campbell Aravinda Chakravarti Peter S Chines Simone Claudi-Boehm Francis S Collins Dana C Crawford John Danesh Ulf de Faire Eco Jc de Geus Marcus Dörr Raimund Erbel Johan G Eriksson Martin Farrall Ele Ferrannini Jean Ferrières Nita G Forouhi Terrence Forrester Oscar H Franco Ron T Gansevoort Christian Gieger Vilmundur Gudnason Christopher A Haiman Tamara B Harris Andrew T Hattersley Markku Heliövaara Andrew A Hicks Aroon D Hingorani Wolfgang Hoffmann Albert Hofman Georg Homuth Steve E Humphries Elina Hyppönen Thomas Illig Marjo-Riitta Jarvelin Berit Johansen Pekka Jousilahti Antti M Jula Jaakko Kaprio Frank Kee Sirkka M Keinanen-Kiukaanniemi Jaspal S Kooner Charles Kooperberg Peter Kovacs Aldi T Kraja Meena Kumari Kari Kuulasmaa Johanna Kuusisto Timo A Lakka Claudia Langenberg Loic Le Marchand Terho Lehtimäki Valeriya Lyssenko Satu Männistö André Marette Tara C Matise Colin A McKenzie Barbara McKnight Arthur W Musk Stefan Möhlenkamp Andrew D Morris Mari Nelis Claes Ohlsson Albertine J Oldehinkel Ken K Ong Lyle J Palmer Brenda W Penninx Annette Peters Peter P Pramstaller Olli T Raitakari Tuomo Rankinen D C Rao Treva K Rice Paul M Ridker Marylyn D Ritchie Igor Rudan Veikko Salomaa Nilesh J Samani Jouko Saramies Mark A Sarzynski Peter Eh Schwarz Alan R Shuldiner Jan A Staessen Valgerdur Steinthorsdottir Ronald P Stolk Konstantin Strauch Anke Tönjes Angelo Tremblay Elena Tremoli Marie-Claude Vohl Uwe Völker Peter Vollenweider James F Wilson Jacqueline C Witteman Linda S Adair Murielle Bochud Bernhard O Boehm Stefan R Bornstein Claude Bouchard Stéphane Cauchi Mark J Caulfield John C Chambers Daniel I Chasman Richard S Cooper George Dedoussis Luigi Ferrucci Philippe Froguel Hans-Jörgen Grabe Anders Hamsten Jennie Hui Kristian Hveem Karl-Heinz Jöckel Mika Kivimaki Diana Kuh Markku Laakso Yongmei Liu Winfried März Patricia B Munroe Inger Njølstad Ben A Oostra Colin Na Palmer Nancy L Pedersen Markus Perola Louis Pérusse Ulrike Peters Chris Power Thomas Quertermous Rainer Rauramaa Fernando Rivadeneira Timo E Saaristo Danish Saleheen Juha Sinisalo P Eline Slagboom Harold Snieder Tim D Spector Kari Stefansson Michael Stumvoll Jaakko Tuomilehto André G Uitterlinden Matti Uusitupa Pim van der Harst Giovanni Veronesi Mark Walker Nicholas J Wareham Hugh Watkins H-Erich Wichmann Goncalo R Abecasis Themistocles L Assimes Sonja I Berndt Michael Boehnke Ingrid B Borecki Panos Deloukas Lude Franke Timothy M Frayling Leif C Groop David J Hunter Robert C Kaplan Jeffrey R O'Connell Lu Qi David Schlessinger David P Strachan Unnur Thorsteinsdottir Cornelia M van Duijn Cristen J Willer Peter M Visscher Jian Yang Joel N Hirschhorn M Carola Zillikens Mark I McCarthy Elizabeth K Speliotes Kari E North Caroline S Fox Inês Barroso Paul W Franks Erik Ingelsson Iris M Heid Ruth Jf Loos L Adrienne Cupples Andrew P Morris Cecilia M Lindgren Karen L Mohlke

Nature 2015 Feb;518(7538):187-196

Department of Genetics, University of North Carolina, Chapel Hill, NC 27599, USA.

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February 2015

Genetic studies of body mass index yield new insights for obesity biology.

Authors:
Adam E Locke Bratati Kahali Sonja I Berndt Anne E Justice Tune H Pers Felix R Day Corey Powell Sailaja Vedantam Martin L Buchkovich Jian Yang Damien C Croteau-Chonka Tonu Esko Tove Fall Teresa Ferreira Stefan Gustafsson Zoltán Kutalik Jian'an Luan Reedik Mägi Joshua C Randall Thomas W Winkler Andrew R Wood Tsegaselassie Workalemahu Jessica D Faul Jennifer A Smith Jing Hua Zhao Wei Zhao Jin Chen Rudolf Fehrmann Åsa K Hedman Juha Karjalainen Ellen M Schmidt Devin Absher Najaf Amin Denise Anderson Marian Beekman Jennifer L Bolton Jennifer L Bragg-Gresham Steven Buyske Ayse Demirkan Guohong Deng Georg B Ehret Bjarke Feenstra Mary F Feitosa Krista Fischer Anuj Goel Jian Gong Anne U Jackson Stavroula Kanoni Marcus E Kleber Kati Kristiansson Unhee Lim Vaneet Lotay Massimo Mangino Irene Mateo Leach Carolina Medina-Gomez Sarah E Medland Michael A Nalls Cameron D Palmer Dorota Pasko Sonali Pechlivanis Marjolein J Peters Inga Prokopenko Dmitry Shungin Alena Stančáková Rona J Strawbridge Yun Ju Sung Toshiko Tanaka Alexander Teumer Stella Trompet Sander W van der Laan Jessica van Setten Jana V Van Vliet-Ostaptchouk Zhaoming Wang Loïc Yengo Weihua Zhang Aaron Isaacs Eva Albrecht Johan Ärnlöv Gillian M Arscott Antony P Attwood Stefania Bandinelli Amy Barrett Isabelita N Bas Claire Bellis Amanda J Bennett Christian Berne Roza Blagieva Matthias Blüher Stefan Böhringer Lori L Bonnycastle Yvonne Böttcher Heather A Boyd Marcel Bruinenberg Ida H Caspersen Yii-Der Ida Chen Robert Clarke E Warwick Daw Anton J M de Craen Graciela Delgado Maria Dimitriou Alex S F Doney Niina Eklund Karol Estrada Elodie Eury Lasse Folkersen Ross M Fraser Melissa E Garcia Frank Geller Vilmantas Giedraitis Bruna Gigante Alan S Go Alain Golay Alison H Goodall Scott D Gordon Mathias Gorski Hans-Jörgen Grabe Harald Grallert Tanja B Grammer Jürgen Gräßler Henrik Grönberg Christopher J Groves Gaëlle Gusto Jeffrey Haessler Per Hall Toomas Haller Goran Hallmans Catharina A Hartman Maija Hassinen Caroline Hayward Nancy L Heard-Costa Quinta Helmer Christian Hengstenberg Oddgeir Holmen Jouke-Jan Hottenga Alan L James Janina M Jeff Åsa Johansson Jennifer Jolley Thorhildur Juliusdottir Leena Kinnunen Wolfgang Koenig Markku Koskenvuo Wolfgang Kratzer Jaana Laitinen Claudia Lamina Karin Leander Nanette R Lee Peter Lichtner Lars Lind Jaana Lindström Ken Sin Lo Stéphane Lobbens Roberto Lorbeer Yingchang Lu François Mach Patrik K E Magnusson Anubha Mahajan Wendy L McArdle Stela McLachlan Cristina Menni Sigrun Merger Evelin Mihailov Lili Milani Alireza Moayyeri Keri L Monda Mario A Morken Antonella Mulas Gabriele Müller Martina Müller-Nurasyid Arthur W Musk Ramaiah Nagaraja Markus M Nöthen Ilja M Nolte Stefan Pilz Nigel W Rayner Frida Renstrom Rainer Rettig Janina S Ried Stephan Ripke Neil R Robertson Lynda M Rose Serena Sanna Hubert Scharnagl Salome Scholtens Fredrick R Schumacher William R Scott Thomas Seufferlein Jianxin Shi Albert Vernon Smith Joanna Smolonska Alice V Stanton Valgerdur Steinthorsdottir Kathleen Stirrups Heather M Stringham Johan Sundström Morris A Swertz Amy J Swift Ann-Christine Syvänen Sian-Tsung Tan Bamidele O Tayo Barbara Thorand Gudmar Thorleifsson Jonathan P Tyrer Hae-Won Uh Liesbeth Vandenput Frank C Verhulst Sita H Vermeulen Niek Verweij Judith M Vonk Lindsay L Waite Helen R Warren Dawn Waterworth Michael N Weedon Lynne R Wilkens Christina Willenborg Tom Wilsgaard Mary K Wojczynski Andrew Wong Alan F Wright Qunyuan Zhang Eoin P Brennan Murim Choi Zari Dastani Alexander W Drong Per Eriksson Anders Franco-Cereceda Jesper R Gådin Ali G Gharavi Michael E Goddard Robert E Handsaker Jinyan Huang Fredrik Karpe Sekar Kathiresan Sarah Keildson Krzysztof Kiryluk Michiaki Kubo Jong-Young Lee Liming Liang Richard P Lifton Baoshan Ma Steven A McCarroll Amy J McKnight Josine L Min Miriam F Moffatt Grant W Montgomery Joanne M Murabito George Nicholson Dale R Nyholt Yukinori Okada John R B Perry Rajkumar Dorajoo Eva Reinmaa Rany M Salem Niina Sandholm Robert A Scott Lisette Stolk Atsushi Takahashi Toshihiro Tanaka Ferdinand M van 't Hooft Anna A E Vinkhuyzen Harm-Jan Westra Wei Zheng Krina T Zondervan Andrew C Heath Dominique Arveiler Stephan J L Bakker John Beilby Richard N Bergman John Blangero Pascal Bovet Harry Campbell Mark J Caulfield Giancarlo Cesana Aravinda Chakravarti Daniel I Chasman Peter S Chines Francis S Collins Dana C Crawford L Adrienne Cupples Daniele Cusi John Danesh Ulf de Faire Hester M den Ruijter Anna F Dominiczak Raimund Erbel Jeanette Erdmann Johan G Eriksson Martin Farrall Stephan B Felix Ele Ferrannini Jean Ferrières Ian Ford Nita G Forouhi Terrence Forrester Oscar H Franco Ron T Gansevoort Pablo V Gejman Christian Gieger Omri Gottesman Vilmundur Gudnason Ulf Gyllensten Alistair S Hall Tamara B Harris Andrew T Hattersley Andrew A Hicks Lucia A Hindorff Aroon D Hingorani Albert Hofman Georg Homuth G Kees Hovingh Steve E Humphries Steven C Hunt Elina Hyppönen Thomas Illig Kevin B Jacobs Marjo-Riitta Jarvelin Karl-Heinz Jöckel Berit Johansen Pekka Jousilahti J Wouter Jukema Antti M Jula Jaakko Kaprio John J P Kastelein Sirkka M Keinanen-Kiukaanniemi Lambertus A Kiemeney Paul Knekt Jaspal S Kooner Charles Kooperberg Peter Kovacs Aldi T Kraja Meena Kumari Johanna Kuusisto Timo A Lakka Claudia Langenberg Loic Le Marchand Terho Lehtimäki Valeriya Lyssenko Satu Männistö André Marette Tara C Matise Colin A McKenzie Barbara McKnight Frans L Moll Andrew D Morris Andrew P Morris Jeffrey C Murray Mari Nelis Claes Ohlsson Albertine J Oldehinkel Ken K Ong Pamela A F Madden Gerard Pasterkamp John F Peden Annette Peters Dirkje S Postma Peter P Pramstaller Jackie F Price Lu Qi Olli T Raitakari Tuomo Rankinen D C Rao Treva K Rice Paul M Ridker John D Rioux Marylyn D Ritchie Igor Rudan Veikko Salomaa Nilesh J Samani Jouko Saramies Mark A Sarzynski Heribert Schunkert Peter E H Schwarz Peter Sever Alan R Shuldiner Juha Sinisalo Ronald P Stolk Konstantin Strauch Anke Tönjes David-Alexandre Trégouët Angelo Tremblay Elena Tremoli Jarmo Virtamo Marie-Claude Vohl Uwe Völker Gérard Waeber Gonneke Willemsen Jacqueline C Witteman M Carola Zillikens Linda S Adair Philippe Amouyel Folkert W Asselbergs Themistocles L Assimes Murielle Bochud Bernhard O Boehm Eric Boerwinkle Stefan R Bornstein Erwin P Bottinger Claude Bouchard Stéphane Cauchi John C Chambers Stephen J Chanock Richard S Cooper Paul I W de Bakker George Dedoussis Luigi Ferrucci Paul W Franks Philippe Froguel Leif C Groop Christopher A Haiman Anders Hamsten Jennie Hui David J Hunter Kristian Hveem Robert C Kaplan Mika Kivimaki Diana Kuh Markku Laakso Yongmei Liu Nicholas G Martin Winfried März Mads Melbye Andres Metspalu Susanne Moebus Patricia B Munroe Inger Njølstad Ben A Oostra Colin N A Palmer Nancy L Pedersen Markus Perola Louis Pérusse Ulrike Peters Chris Power Thomas Quertermous Rainer Rauramaa Fernando Rivadeneira Timo E Saaristo Danish Saleheen Naveed Sattar Eric E Schadt David Schlessinger P Eline Slagboom Harold Snieder Tim D Spector Unnur Thorsteinsdottir Michael Stumvoll Jaakko Tuomilehto André G Uitterlinden Matti Uusitupa Pim van der Harst Mark Walker Henri Wallaschofski Nicholas J Wareham Hugh Watkins David R Weir H-Erich Wichmann James F Wilson Pieter Zanen Ingrid B Borecki Panos Deloukas Caroline S Fox Iris M Heid Jeffrey R O'Connell David P Strachan Kari Stefansson Cornelia M van Duijn Gonçalo R Abecasis Lude Franke Timothy M Frayling Mark I McCarthy Peter M Visscher André Scherag Cristen J Willer Michael Boehnke Karen L Mohlke Cecilia M Lindgren Jacques S Beckmann Inês Barroso Kari E North Erik Ingelsson Joel N Hirschhorn Ruth J F Loos Elizabeth K Speliotes

Nature 2015 Feb;518(7538):197-206

Department of Internal Medicine, Division of Gastroenterology, and Department of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, Michigan 48109, USA.

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February 2015

Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.

Nat Genet 2014 Nov 12;46(11):1187-96. Epub 2014 Oct 12.

Division of Nephrology, Department of Medicine, College of Physicians and Surgeons, Columbia University, New York, New York, USA.

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November 2014

Phenotypic expansion of DGKE-associated diseases.

J Am Soc Nephrol 2014 Jul 7;25(7):1408-14. Epub 2014 Feb 7.

Division of Nephrology, Department of Medicine, Columbia University College of Physicians and Surgeons, New York, New York;

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July 2014

Cytokines alter IgA1 O-glycosylation by dysregulating C1GalT1 and ST6GalNAc-II enzymes.

J Biol Chem 2014 Feb 7;289(8):5330-9. Epub 2014 Jan 7.

From the University of Alabama at Birmingham, Birmingham, Alabama 35294.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3931088PMC
February 2014

Lupus nephritis: Ancestry, genetic risk and health disparities.

Nat Rev Nephrol 2013 Dec 15;9(12):699-700. Epub 2013 Oct 15.

Division of Nephrology, Columbia University Medical Center, PH 4-124, New York, NY 10032, USA.

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December 2013

Mutations in DSTYK and dominant urinary tract malformations.

N Engl J Med 2013 Aug 17;369(7):621-9. Epub 2013 Jul 17.

Divisions of Nephrology (S.S.-C., R.V.S., N.P., K.E.B., S.N.N., B.J.P., P.L.W., M.V., F.L., R.S., N.P., N.K., K.K., Q.A.-A., A.G.G.) and Pediatric Nephrology (P.L.W.) and the Department of Pathology (V.D.D.), Columbia University, and the Department of Medicine, St. Luke's-Roosevelt Hospital Center (S.S.-C.), New York; the Department of Genetics, Howard Hughes Medical Institute, and Yale Center for Mendelian Genomics, Yale University, New Haven, CT (M.C., M.S., R.P.L.); the Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, South Korea (M.C.); the Division of Nephrology, Dialysis, and Transplantation (M.B., F.L., G.C., A.C., M.D., C.M., G.P., G.M.G.) and Laboratory of Molecular Genetics (G.S., R.R.), Istituto Giannina Gaslini, the Division of Nephrology, Department of Internal Medicine (M.B.), and Dipartimento di Neuroscienze, Riabilitazione, Oftalmologia, Genetica e Scienze Materno Infantili (R.R.), University of Genoa, and IRCCS San Martino-IST (M.B.), Genoa; Cattedra di Nefrologia, Università di Brescia, Seconda Divisione di Nefrologia Azienda Ospedaliera Spedali Civili di Brescia Presidio di Montichiari, Brescia (C.I., F.S.); the Department of Clinical Medicine, Nephrology, and Health Sciences, Unit of Nephrology, University of Parma, Parma (B.B., S.G., L.A.); the Department of Medical and Surgical Sciences, University of Foggia, Foggia (M.G.); the Department of Emergency and Organ Transplantation, University of Bari, Bari (L.G.); and the Division of Nephrology and Dialysis, Hospital of Alghero, Alghero (D.C.) - all in Italy; the Nephrology Division, Massachusetts General Hospital (Y.L., I.A.D.), and Department of Genetics, Harvard Medical School (I.A.D.), Charlestown, MA; University Children's Hospital, Medical School of Skopje, Skopje, Macedonia (V.J.L., N.R.-B., Z.G., V.T.); the Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland (A.M.-K., A.L.-B.); and the Department of Pediatrics, University Hospital of Split (D.K.V., M.S.), and the Department of Anatomy, Histology, and Embryology (K.V., M.S.-B.), School of Medicine (M.S.), University of Split, Split, Croatia.

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August 2013

Pathogenesis of immunoglobulin A nephropathy: recent insight from genetic studies.

Annu Rev Med 2013 16;64:339-56. Epub 2012 Oct 16.

Department of Medicine, College of Physicians and Surgeons, Columbia University, New York, New York 10032, USA.

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July 2013

Pathogenesis of immunoglobulin A nephropathy.

Curr Opin Nephrol Hypertens 2013 May;22(3):287-94

aSchool of Medicine, University of Alabama at Birmingham, Birmingham, Alabama bCollege of Physicians and Surgeons, Columbia University, New York, New York, USA.

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May 2013

Working out nephronophthisis genetics one family at a time.

J Am Soc Nephrol 2013 May 16;24(6):865-8. Epub 2013 May 16.

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May 2013

IgA nephropathy: molecular mechanisms of the disease.

Annu Rev Pathol 2013 Jan 18;8:217-40. Epub 2012 Oct 18.

Department of Microbiology, University of Alabama at Birmingham, AL 35294, USA.

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January 2013

The level of galactose-deficient IgA1 in the sera of patients with IgA nephropathy is associated with disease progression.

Kidney Int 2012 Oct 6;82(7):790-6. Epub 2012 Jun 6.

Renal Division, Department of Medicine, Peking University First Hospital, Peking University Institute of Nephrology, Beijing, China.

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October 2012

Aberrant glycosylation of IgA1 and anti-glycan antibodies in IgA nephropathy: role of mucosal immune system.

Adv Otorhinolaryngol 2011 18;72:60-3. Epub 2011 Aug 18.

Department of Microbiology, University of Alabama at Birmingham, Birmingham, AL 35294, USA.

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January 2012

The pathophysiology of IgA nephropathy.

J Am Soc Nephrol 2011 Oct 23;22(10):1795-803. Epub 2011 Sep 23.

Department of Internal Medicine, Division of Nephrology, Juntendo University Faculty of Medicine, Tokyo, Japan.

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October 2011

Oxidative stress and galactose-deficient IgA1 as markers of progression in IgA nephropathy.

Clin J Am Soc Nephrol 2011 Aug 22;6(8):1903-11. Epub 2011 Jul 22.

Nephrology, Dialysis and Transplantation Unit, Regina Margherita Children's University Hospital, Piazza Polonia 94, 10127 Torino, Italy.

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August 2011

Aberrant glycosylation of IgA1 is inherited in both pediatric IgA nephropathy and Henoch-Schönlein purpura nephritis.

Kidney Int 2011 Jul 16;80(1):79-87. Epub 2011 Feb 16.

Division of Nephrology, Department of Medicine, College of Physicians and Surgeons, Columbia University, New York, New York 10032, USA.

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July 2011

HNF1B and PAX2 mutations are a common cause of renal hypodysplasia in the CKiD cohort.

Pediatr Nephrol 2011 Jun 5;26(6):897-903. Epub 2011 Mar 5.

Pediatric Nephrology, Children's Hospital at Montefiore, Bronx, NY, USA.

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June 2011

The molecular pathogenesis of HIV-1 associated nephropathy: recent advances.

J Mol Med (Berl) 2011 May 11;89(5):429-36. Epub 2011 Jan 11.

Department of Medicine, Columbia University College of Physicians and Surgeons, 1150 St Nicholas Ave., New York, NY 10032, USA.

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May 2011

Genetic studies of IgA nephropathy: past, present, and future.

Pediatr Nephrol 2010 Nov 13;25(11):2257-68. Epub 2010 Apr 13.

Department of Medicine, Division of Nephrology, College of Physicians and Surgeons, Columbia University, 1150 St. Nicholas Avenue, Russ Berrie Pavilion #413, New York, NY 10032, USA.

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November 2010

Galactose-deficient IgA1 in African Americans with IgA nephropathy: serum levels and heritability.

Clin J Am Soc Nephrol 2010 Nov 15;5(11):2069-74. Epub 2010 Jul 15.

Children's Foundation Research Center at Le Bonheur Children's Medical Center, Memphis, TN 38103-2893, USA.

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November 2010

Prkdc participates in mitochondrial genome maintenance and prevents Adriamycin-induced nephropathy in mice.

J Clin Invest 2010 Nov 18;120(11):4055-64. Epub 2010 Oct 18.

Department of Medicine, Columbia University College of Physicians and Surgeons, New York, New York 10032, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2964992PMC
November 2010

A susceptibility gene for kidney disease in an obese mouse model of type II diabetes maps to chromosome 8.

Kidney Int 2010 Sep 2;78(5):453-62. Epub 2010 Jun 2.

Department of Medicine and Neuroscience, Albert Einstein College of Medicine, Bronx, NY 10461, USA.

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September 2010

IgA nephropathy--the case for a genetic basis becomes stronger.

Nephrol Dial Transplant 2010 Feb 13;25(2):336-8. Epub 2009 Nov 13.

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February 2010

Accelerated development of collapsing glomerulopathy in mice congenic for the HIVAN1 locus.

Kidney Int 2009 Feb 17;75(4):366-72. Epub 2008 Dec 17.

Department of Medicine, Columbia University College of Physicians and Surgeons, New York, New York, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2753461PMC
February 2009

Aberrant IgA1 glycosylation is inherited in familial and sporadic IgA nephropathy.

J Am Soc Nephrol 2008 May 13;19(5):1008-14. Epub 2008 Feb 13.

Department of Medicine, Columbia University College of Physicians and Surgeons, 630 W 168th Street, P&S 10-445 New York, New York 10032, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2386728PMC
May 2008

Genetic approaches to human renal agenesis/hypoplasia and dysplasia.

Pediatr Nephrol 2007 Oct 17;22(10):1675-84. Epub 2007 Apr 17.

Department of Medicine, Division of Nephrology, Columbia University College of Physicians and Surgeons, New York, NY, USA.

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http://dx.doi.org/10.1007/s00467-007-0479-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1994209PMC
October 2007

Genetic susceptibility, HIV infection, and the kidney.

Clin J Am Soc Nephrol 2007 Jul;2 Suppl 1:S25-35

Department of Medicine, Division of Nephrology, College of Physicians and Surgeons, Columbia University, New York, New York 10032, USA.

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July 2007

The genetics of IgA nephropathy.

Nat Clin Pract Nephrol 2007 Jun;3(6):325-38

Department of Genetics, Yale University, New Haven, CT, USA.

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http://dx.doi.org/10.1038/ncpneph0492DOI Listing
June 2007

Characterization of a large Lebanese family segregating IgA nephropathy.

Nephrol Dial Transplant 2007 Mar 15;22(3):772-7. Epub 2006 Dec 15.

Department of Medicine, American University of Beirut, Beirut, Lebanon.

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March 2007

An ancestral haplotype defines susceptibility to doxorubicin nephropathy in the laboratory mouse.

J Am Soc Nephrol 2006 Jul 14;17(7):1796-800. Epub 2006 Jun 14.

Department of Medicine, Division of Nephrology, Columbia University College of Physicians and Surgeons, New York, NY 10032, USA.

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July 2006

Familial vesicoureteral reflux: testing replication of linkage in seven new multigenerational kindreds.

J Am Soc Nephrol 2005 Jun 13;16(6):1781-7. Epub 2005 Apr 13.

Department of Medicine, Division of Nephrology, Columbia University College of Physicians and Surgeons, 630 W 168th Street, P&S 10-432 New York, NY 10032, USA.

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http://dx.doi.org/10.1681/ASN.2004121034DOI Listing
June 2005

Thin basement membrane disease in patients with familial IgA nephropathy.

J Nephrol 2004 Nov-Dec;17(6):778-85

Nephrology, Dialysis and Renal Transplantation Unit, St. Orsola University Hospital, Bologna, Italy.

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March 2005

A Mendelian locus on chromosome 16 determines susceptibility to doxorubicin nephropathy in the mouse.

Proc Natl Acad Sci U S A 2005 Feb 7;102(7):2502-7. Epub 2005 Feb 7.

Department of Medicine, Columbia University College of Physicians and Surgeons, New York, NY 10032, USA.

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http://dx.doi.org/10.1073/pnas.0409786102DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC549022PMC
February 2005

Mutations in SEC63 cause autosomal dominant polycystic liver disease.

Nat Genet 2004 Jun 9;36(6):575-7. Epub 2004 May 9.

Department of Internal Medicine, Yale University School of Medicine, P.O. Box 208029, 333 Cedar Street, New Haven, Connecticut 06520-8029, USA.

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http://dx.doi.org/10.1038/ng1357DOI Listing
June 2004

Mapping a locus for susceptibility to HIV-1-associated nephropathy to mouse chromosome 3.

Proc Natl Acad Sci U S A 2004 Feb;101(8):2488-93

Howard Hughes Medical Institute and Department of Genetics, Yale University School of Medicine, New Haven, CT 06520, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC356977PMC
http://dx.doi.org/10.1073/pnas.0308649100DOI Listing
February 2004

Angiotensin-converting enzyme genotype and outcome in pediatric IgA nephropathy.

Pediatr Nephrol 2002 Jul 18;17(7):496-502. Epub 2002 Jun 18.

Children's Foundation Research Center at the Le Bonheur Children's Medical Center, University of Tennessee Health Sciences Center, Memphis, USA.

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http://dx.doi.org/10.1007/s00467-002-0916-0DOI Listing
July 2002