Human C-terminal CUBN variants associate with chronic proteinuria and normal renal function

Identification of 22 novel loci associated with urinary biomarkers of albumin, sodium, and potassium excretion

(2019) Daniela Zanetti et al.   KIDNEY INTERNATIONAL

Low levels of urinary epidermal growth factor predict chronic kidney disease progression in children

(2019) Karolis Azukaitis et al.   KIDNEY INTERNATIONAL

A catalog of genetic loci associated with kidney function from analyses of a million individuals

(2019) Matthias Wuttke et al.   NATURE GENETICS

Genome-wide association meta-analyses and fine-mapping elucidate pathways influencing albuminuria

(2019) Alexander Teumer et al.   Nature Communications

A kidney-disease gene panel allows a comprehensive genetic diagnosis of cystic and glomerular inherited kidney diseases

(2018) Gemma Bullich et al.   KIDNEY INTERNATIONAL

Single-cell transcriptomics of the mouse kidney reveals potential cellular targets of kidney disease

(2018) Jihwan Park et al.   SCIENCE

Genetic Association of Albuminuria with Cardiometabolic Disease and Blood Pressure

(2018) Mary E. Haas et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Single-cell analysis of progenitor cell dynamics and lineage specification in the human fetal kidney

(2018) Rajasree Menon et al.   DEVELOPMENT

Renal compartment–specific genetic variation analyses identify new pathways in chronic kidney disease

(2018) Chengxiang Qiu et al.   NATURE MEDICINE

A novel rare CUBN variant and three additional genes identified in Europeans with and without diabetes: results from an exome-wide association study of albuminuria

(2018) Tarunveer S. Ahluwalia et al.   DIABETOLOGIA

Structural assembly of the megadalton-sized receptor for intestinal vitamin B12 uptake and kidney protein reabsorption

(2018) Casper Larsen et al.   Nature Communications

The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies

(2017) Peter D. Stenson et al.   HUMAN GENETICS

Genetic and Pharmacologic Inactivation of ANGPTL3 and Cardiovascular Disease

(2017) Frederick E. Dewey et al.   NEW ENGLAND JOURNAL OF MEDICINE

Observations of a large Dent disease cohort

(2016) Anne Blanchard et al.   KIDNEY INTERNATIONAL

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

Comparison of the Schwartz and CKD-EPI Equations for Estimating Glomerular Filtration Rate in Children, Adolescents, and Adults: A Retrospective Cross-Sectional Study

(2016) Luciano Selistre et al.   PLOS MEDICINE

Genome-wide Association Studies Identify Genetic Loci Associated With Albuminuria in Diabetes

(2015) Alexander Teumer et al.   DIABETES

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Megalin-Mediated Tubuloglomerular Alterations in High-Fat Diet-Induced Kidney Disease

(2015) S. Kuwahara et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

The Phyre2 web portal for protein modeling, prediction and analysis

(2015) Lawrence A Kelley et al.   Nature Protocols

In-depth phenotyping of a Donnai–Barrow patient helps clarify proximal tubule dysfunction

(2015) Angélique Dachy et al.   PEDIATRIC NEPHROLOGY

The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans

(2015) et al.   SCIENCE

A New Equation to Estimate Glomerular Filtration Rate

(2013) Andrew S. Levey et al.   ANNALS OF INTERNAL MEDICINE

From bowel to kidneys: the role of cubilin in physiology and disease

(2013) Erik I. Christensen et al.   NEPHROLOGY DIALYSIS TRANSPLANTATION

Vitamin B12 absorption: Mammalian physiology and acquired and inherited disorders

(2012) Renata Kozyraki et al.   BIOCHIMIE

Integration of genome-wide association studies with biological knowledge identifies six novel genes related to kidney function

(2012) Daniel I. Chasman, Christian Fuchsberger, Cristian Pattaro, Alexander Teumer, Carsten A. Böger, Karlhans Endlich, Matthias Olden, Ming-Huei Chen, Adrienne Tin, Daniel Taliun, Man Li, Xiaoyi Gao, Mathias Gorski, Qiong Yang, Claudia Hundertmark, Meredith C. Foster, Conall M. O'Seaghdha, Nicole Glazer, Aaron Isaacs, Ching-Ti Liu, Albert V. Smith, Jeffrey R. O'Connell, Maksim Struchalin, Toshiko Tanaka, Guo Li, Andrew D. Johnson, Hinco J. Gierman, Mary F. Feitosa, Shih-Jen Hwang, Elizabeth J. Atkinson, Kurt Lohman, Marilyn C. Cornelis, Åsa Johansson, Anke Tönjes, Abbas Dehghan, Jean-Charles Lambert, Elizabeth G. Holliday, Rossella Sorice, Zoltan Kutalik, Terho Lehtimäki, Tõnu Esko, Harshal Deshmukh, Sheila Ulivi, Audrey Y. Chu, Federico Murgia, Stella Trompet, Medea Imboden, Stefan Coassin, Giorgio Pistis, Tamara B. Harris, Lenore J. Launer, Thor Aspelund, Gudny Eiriksdottir, Braxton D. Mitchell, Eric Boerwinkle, Helena Schmidt, Margherita Cavalieri, Madhumathi Rao, Frank Hu, Ayse Demirkan, Ben A. Oostra, Mariza de Andrade, Stephen T. Turner, Jingzhong Ding, Jeanette S. Andrews, Barry I. Freedman, Franco Giulianini, Wolfgang Koenig, Thomas Illig, Christa Meisinger, Christian Gieger, Lina Zgaga, Tatijana Zemunik, Mladen Boban, Cosetta Minelli, Heather E. Wheeler, Wilmar Igl, Ghazal Zaboli, Sarah H. Wild, Alan F. Wright, Harry Campbell, David Ellinghaus, Ute Nöthlings, Gunnar Jacobs, Reiner Biffar, Florian Ernst, Georg Homuth, Heyo K. Kroemer, Matthias Nauck, Sylvia Stracke, Uwe Völker, Henry Völzke, Peter Kovacs, Michael Stumvoll, Reedik Mägi, Albert Hofman, Andre G. Uitterlinden, Fernando Rivadeneira, Yurii S. Aulchenko, Ozren Polasek, Nick Hastie, Veronique Vitart, Catherine Helmer, Jie Jin Wang, Bénédicte Stengel, Daniela Ruggiero, Sven Bergmann, Mika Kähönen, Jorma Viikari, Tiit Nikopensius, Michael Province, Shamika Ketkar, Helen Colhoun, Alex Doney, Antonietta Robino, Bernhard K. Krämer, Laura Portas, Ian Ford, Brendan M. Buckley, Martin Adam, Gian-Andri Thun, Bernhard Paulweber, Margot Haun, Cinzia Sala, Paul Mitchell, Marina Ciullo, Stuart K. Kim, Peter Vollenweider, Olli Raitakari, Andres Metspalu, Colin Palmer, Paolo Gasparini, Mario Pirastu, J. Wouter Jukema, Nicole M. Probst-Hensch, Florian Kronenberg, Daniela Toniolo, Vilmundur Gudnason, Alan R. Shuldiner, Josef Coresh, Reinhold Schmidt, Luigi Ferrucci, David S. Siscovick, Cornelia M. van Duijn, Ingrid B. Borecki, Sharon L.R. Kardia, Yongmei Liu, Gary C. Curhan, Igor Rudan, Ulf Gyllensten, James F. Wilson, Andre Franke, Peter P. Pramstaller, Rainer Rettig, Inga Prokopenko et al.   HUMAN MOLECULAR GENETICS

Renal phenotypic investigations of megalin-deficient patients: novel insights into tubular proteinuria and albumin filtration*

(2012) Tina Storm et al.   NEPHROLOGY DIALYSIS TRANSPLANTATION

Can We Target Tubular Damage to Prevent Renal Function Decline in Diabetes?

(2012) Joseph V. Bonventre   SEMINARS IN NEPHROLOGY

Linkage disequilibrium analysis reveals an albuminuria risk haplotype containing three missense mutations in the cubilin gene with striking differences among European and African ancestry populations

(2012) Shay Tzur et al.   BMC Nephrology

CUBN Is a Gene Locus for Albuminuria

(2011) C. A. Boger et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Exome Sequencing Reveals Cubilin Mutation as a Single-Gene Cause of Proteinuria

(2011) B. Ovunc et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Lower estimated GFR and higher albuminuria are associated with adverse kidney outcomes. A collaborative meta-analysis of general and high-risk population cohorts

(2011) Ron T. Gansevoort et al.   KIDNEY INTERNATIONAL

Lower estimated glomerular filtration rate and higher albuminuria are associated with mortality and end-stage renal disease. A collaborative meta-analysis of kidney disease population cohorts

(2011) Brad C. Astor et al.   KIDNEY INTERNATIONAL

The value of simultaneous measurements of urinary albumin and total protein in proteinuric patients

(2011) Edward R. Smith et al.   NEPHROLOGY DIALYSIS TRANSPLANTATION

Cubilin Is Essential for Albumin Reabsorption in the Renal Proximal Tubule

(2010) S. Amsellem et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Structural basis for receptor recognition of vitamin-B12–intrinsic factor complexes

(2010) Christian Brix Folsted Andersen et al.   NATURE

AMN Directs Endocytosis of the Intrinsic Factor-Vitamin B12 Receptor Cubam by Engaging ARH or Dab2

(2010) Gitte Albinus Pedersen et al.   TRAFFIC

Familial Renal Glucosuria and SGLT2: From a Mendelian Trait to a Therapeutic Target

(2009) R. Santer et al.   Clinical Journal of the American Society of Nephrology

Measurement and Estimation of GFR in Children and Adolescents

(2009) G. J. Schwartz et al.   Clinical Journal of the American Society of Nephrology

Albuminuria and Kidney Function Independently Predict Cardiovascular and Renal Outcomes in Diabetes

(2009) T. Ninomiya et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

A review of Donnai-Barrow and facio-oculo-acoustico-renal (DB/FOAR) syndrome: Clinical features and differential diagnosis

(2008) Barbara R. Pober et al.   BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY

Megalin contributes to the early injury of proximal tubule cells during nonselective proteinuria

(2008) Yaeko Motoyoshi et al.   KIDNEY INTERNATIONAL