ArticleJournal of the American Society of Nephrology : JASN2019
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Article in Journal of the American Society of Nephrology : JASN, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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26citing papers in PubMed
3.4field-weighted citation impact, top 7% of its field
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Who cites it
26 citing papers in PubMed, 41 citations in OpenAlex.
- Quantitative interactome mapping of skeletal muscle insulin resistance.Molecular systems biology · 2026Article
- Where and how do mammalian cells shape autophagosomes?The Journal of biological chemistry · 2026Review
- Emerging genetic mechanisms of glomerular proteinuria: a podocyte-centered multi-layer network perspective.Frontiers in genetics · 2026Review
- A proximity map of RAB GTPases delineates roles for RAB14 in EARP complex and UHRF1BP1 endosomal recruitments.Communications biology · 2025Article
- Whole genome sequencing identifies monogenic disease in 56.1% of families with early-onset steroid-resistant nephrotic syndrome.Human genetics · 2025Article
- Revisiting nephrin signaling and its specialized effects on the uniquely adaptable podocyte.The Biochemical journal · 2025Review
- Mechanisms of podocyte injury in genetic kidney disease.Pediatric nephrology (Berlin, Germany) · 2025Review
- Discovery of a Small Molecule with an Inhibitory Role for RAB11.International journal of molecular sciences · 2024Article
- Adult-onset female focal segmental glomerulosclerosis with nephrotic syndrome caused by aClinical kidney journal · 2024Article
- Novel TBC1D8B variant causes neonatal nephrotic syndrome combined with acute kidney injury.Italian journal of pediatrics · 2024Article
- A human-specific insertion promotes cell proliferation and migration by enhancing TBC1D8B expression.Science China. Life sciences · 2024Article
- Insights into human kidney function from the study of Drosophila.Pediatric nephrology (Berlin, Germany) · 2023Review
- Interaction of the sorting nexin 25 homologue Snazarus with Rab11 balances endocytic and secretory transport and maintains the ultrafiltration diaphragm in nephrocytes.Molecular biology of the cell · 2023Article
- Model organisms for functional validation in genetic renal disease.Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2022Article
- Article
- Drosophila melanogaster: a simple genetic model of kidney structure, function and disease.Nature reviews. Nephrology · 2022Review
- PI(4,5)P2 controls slit diaphragm formation and endocytosis in Drosophila nephrocytes.Cellular and molecular life sciences : CMLS · 2022Article
- UsingFrontiers in cell and developmental biology · 2022Review
- Small Rab GTPases in Intracellular Vesicle Trafficking: The Case of Rab3A/Raphillin-3A Complex in the Kidney.International journal of molecular sciences · 2021Review
- Review
Corrections and comments
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Authors and funding
23 authors at 10 institutions in 4 countries.
Lina L KampfRenal Division, Department of Medicine, Faculty of Medicine and Medical Center, University of Freiburg, Freiburg, Germany.
Ronen SchneiderDivision of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
Lea GerstnerRenal Division, Department of Medicine, Faculty of Medicine and Medical Center, University of Freiburg, Freiburg, Germany.
Roland ThünauerSignalling Research Centres BIOSS and CIBSS and Faculty of Biology, University of Freiburg, Freiburg, Germany.
Mengmeng ChenRenal Division, Department of Medicine, Faculty of Medicine and Medical Center, University of Freiburg, Freiburg, Germany.
Martin HelmstädterRenal Division, Department of Medicine, Faculty of Medicine and Medical Center, University of Freiburg, Freiburg, Germany.
Ali AmarDivision of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
Ana C Onuchic-WhitfordDivision of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
Reyner Loza MunarrizDepartment of Pediatrics, Universidad Peruana Cayetano Heredia, Lima, Peru.
Afig BerdeliDepartment of Pediatrics, Molecular Medicine Laboratory, Ege University, Izmir, Turkey.
Dominik MüllerDepartment of Pediatric Nephrology, Charité Universitätsmedizin Berlin, Berlin, Germany.
Eva SchrezenmeierDepartment of Nephrology and Medical Intensive Care, Charité - Universitätsmedizin Berlin, Berlin, Germany.
Klemens BuddeDepartment of Nephrology and Medical Intensive Care, Charité - Universitätsmedizin Berlin, Berlin, Germany.
Shrikant ManeDepartment of Genetics, Yale University School of Medicine, New Haven, Connecticut.
Kristen M LaricchiaBroad Center for Mendelian Genomics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge.
Heidi L RehmBroad Center for Mendelian Genomics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge.ORCID 0000-0002-6025-0015
Daniel G MacArthurBroad Center for Mendelian Genomics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge.
Richard P LiftonDepartment of Genetics, Yale University School of Medicine, New Haven, Connecticut.
Gerd WalzRenal Division, Department of Medicine, Faculty of Medicine and Medical Center, University of Freiburg, Freiburg, Germany.
Winfried RömerSignalling Research Centres BIOSS and CIBSS and Faculty of Biology, University of Freiburg, Freiburg, Germany.
Carsten BergmannCenter for Human Genetics, Mainz, Germany.
Friedhelm HildebrandtDivision of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts; tobias.hermle@uniklinik-freiburg.de friedhelm.hildebrandt@childrens.harvard.edu.
Tobias HermleRenal Division, Department of Medicine, Faculty of Medicine and Medical Center, University of Freiburg, Freiburg, Germany; tobias.hermle@uniklinik-freiburg.de friedhelm.hildebrandt@childrens.harvard.edu.ORCID 0000-0002-0441-7749
University of Freiburg · DEBoston Children's Hospital · USBroad Institute · USCharité - Universitätsmedizin Berlin · DEYale University · USBrigham and Women's Hospital · USEge University · TRUniversidad Peruana Cayetano Heredia · PEUniversität Hamburg · DEUniversity Medical Center Freiburg · DE
Funding
Renal Physiology and Phenotyping CoreP30DK079310 · NIDDK · YALE UNIVERSITY · PI ARONSON, PETER S. · 2008 to 2022
$16.8MJoint Center for Mendelian GenomicsUM1HG008900 · NHGRI · BROAD INSTITUTE, INC. · PI O'DONNELL-LURIA, ANNE, REHM, HEIDI L · 2016 to 2020
$16.5MYale Center for Mendelian DisordersU54HG006504 · NHGRI · YALE UNIVERSITY · PI GERSTEIN, MARK BENDER, GUNEL, MURAT · 2012 to 2015
$11.0MTRAINING PROGRAM IN ACADEMIC NEPHROLOGYT32DK007527 · NIDDK · BRIGHAM AND WOMEN'S HOSPITAL · PI BONVENTRE, JOSEPH VINCENT · 1986 to 2021
$8.8MIdentification and function of new genes causing childhood nephrotic syndromeR01DK076683 · NIDDK · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI HILDEBRANDT, FRIEDHELM · 2007 to 2021
$5.3MHigh Performance Computing Instrumentation for the Yale Center for Genome AnalysiS10OD018521 · OD · YALE UNIVERSITY · PI MANE, SHRIKANT M · 2015 to 2015
$890kNHGRI NIH HHS U54 HG006504NHGRI NIH HHS UM1 HG008900NIDDK NIH HHS P30 DK079310NIDDK NIH HHS R01 DK076683NIDDK NIH HHS T32 DK007527NIH HHS S10 OD018521
Abstract
backgroundMutations in about 50 genes have been identified as monogenic causes of nephrotic syndrome, a frequent cause of CKD. These genes delineated the pathogenetic pathways and rendered significant insight into podocyte biology.
methodsWe used whole-exome sequencing to identify novel monogenic causes of steroid-resistant nephrotic syndrome (SRNS). We analyzed the functional significance of an SRNS-associated gene
resultsWe identified hemizygous missense mutations in the gene
conclusionsNovel mutations in
Indexed as
Mutation, MissenseAnimalsAutophagyCalcium-Binding ProteinsCell Line, TransformedDogsDrosophila melanogasterDrosophila ProteinsExocytosisExome SequencingGene SilencingHEK293 CellsHumansImmunoglobulinsMadin Darby Canine Kidney CellsMembrane ProteinsCalcium-Binding ProteinsDrosophila ProteinsImmunoglobulinsMembrane Proteinsnephrinrab11 GTP-Binding Proteinsrab GTP-Binding ProteinsRNA, Small InterferingSNS protein, DrosophilaTBC1D8B protein, humanVesicular Transport ProteinsDrosophilaendocytosisgenetic renal diseasenephrocytenephrotic syndromepodocyte
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.