ArticleJournal of the American Society of Nephrology : JASN2018
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Article in Journal of the American Society of Nephrology : JASN, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 42 papers.
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42citing papers in PubMed
4.0field-weighted citation impact, top 6% of its field
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Who cites it
42 citing papers in PubMed, 67 citations in OpenAlex.
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- Article
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Authors and funding
28 authors at 11 institutions in 4 countries.
Tobias HermleDepartment of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
Ronen SchneiderDepartment of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
David SchapiroDepartment of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
Daniela A BraunDepartment of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
Amelie T van der VenDepartment of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
Jillian K WarejkoDepartment of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
Ankana DagaDepartment of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
Eugen WidmeierDepartment of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
Makiko NakayamaDepartment of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
Tilman Jobst-SchwanDepartment of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
Amar J MajmundarDepartment of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
Shazia AshrafDepartment of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
Jia RaoDepartment of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
Laura S FinnDepartment of Pathology, Seattle Children's Hospital, University of Washington, Seattle, Washington.
Velibor TasicDepartment of Pediatric Nephrology, Medical Faculty Skopje, University Children's Hospital, Skopje, Macedonia.
Joel D HernandezDepartment of Pediatric Nephrology, Providence Sacred Heart Medical Center and Children's Hospital, Spokane, Washington.
Arvind BaggaDivision of Nephrology, All India Institute of Medical Sciences, New Delhi, India.
Sawsan M JalalahDepartment of Pathology, College of Medicine, and.
Sherif El DesokyPediatric Nephrology Center of Excellence and Pediatric Department, Faculty of Medicine, King Abdulaziz University, Jeddah, Kingdom of Saudi Arabia.
Jameela A KariPediatric Nephrology Center of Excellence and Pediatric Department, Faculty of Medicine, King Abdulaziz University, Jeddah, Kingdom of Saudi Arabia.
Kristen M LaricchiaBroad Center for Mendelian Genetics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, Massachusetts.
Monkol LekBroad Center for Mendelian Genetics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, Massachusetts.
Heidi L RehmBroad Center for Mendelian Genetics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, Massachusetts.
Daniel G MacArthurBroad Center for Mendelian Genetics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, Massachusetts.
Shrikant ManeDepartment of Genetics, Yale University School of Medicine, New Haven, Connecticut; and.
Richard P LiftonDepartment of Genetics, Yale University School of Medicine, New Haven, Connecticut; and.
Shirlee ShrilDepartment of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
Friedhelm HildebrandtDepartment of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts; friedhelm.hildebrandt@childrens.harvard.edu.
Boston Children's Hospital · USHarvard University · USKing Abdulaziz University · SAMassachusetts Institute of Technology · USYale University · USAll India Institute of Medical Sciences · INBroad Center · USBroad Institute · USProvidence Sacred Heart Medical Center · USSeattle Children's Hospital · USUniversity Medical Center Freiburg · DE
Funding
Joint 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
$11.0MRESEARCH TRAINING IN PEDIATRIC NEPHROLOGYT32DK007726 · NIDDK · CHILDREN'S HOSPITAL BOSTON · PI BRISCOE, DAVID M. · 1994 to 2023
$5.9MIdentification 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 AnalysisS10OD030363 · OD · YALE UNIVERSITY · PI MANE, SHRIKANT M · 2022 to 2022
$1.2MNHGRI NIH HHS U54 HG006504NHGRI NIH HHS UM1 HG008900NIDDK NIH HHS R01 DK076683NIDDK NIH HHS T32 DK007726NIH HHS S10 OD030363
Abstract
backgroundSteroid-resistant nephrotic syndrome (SRNS) is a frequent cause of CKD. The discovery of monogenic causes of SRNS has revealed specific pathogenetic pathways, but these monogenic causes do not explain all cases of SRNS.
methodsTo identify novel monogenic causes of SRNS, we screened 665 patients by whole-exome sequencing. We then evaluated the
resultsWe identified conserved, homozygous missense mutations of
conclusionsMutations in
Indexed as
Gene Expression RegulationAnimalsCell MovementCells, CulturedCohort StudiesDisease ProgressionDrosophila melanogasterExome SequencingFemaleGenetic Predisposition to DiseaseHumansMaleMass ScreeningMembrane ProteinsMutation, MissenseNephrotic SyndromeANKFY1 protein, humanMembrane ProteinsPhosphate-Binding ProteinsRAB5C protein, humanrab5 GTP-Binding ProteinsRNA, Small Interferingendocytosisgenetic renal diseasenephrinnephrocytenephrotic 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.