ArticleJournal of the American Society of Nephrology : JASN2021
Mutations in
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Article in Journal of the American Society of Nephrology : JASN, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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22citing papers in PubMed
2.6field-weighted citation impact, top 10% of its field
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Who cites it
22 citing papers in PubMed, 26 citations in OpenAlex.
- Single-cell transcriptomics uncovers endothelial progenitor-like remodelling driving human coronary atherosclerosis progression.Nature cell biology · 2026Article
- Prdm15 Deficiency Results in Impaired Hippocampal Neurogenesis and Autism-Like Behaviors.Cellular and molecular neurobiology · 2026Article
- A novel homozygous in-frame deletion variant in TPRKB causing Galloway-Mowat syndrome 5.Neurogenetics · 2026Article
- Lateralized periodic discharges due to mutated PLEKHG2 in an infant with congenital nephrotic syndrome: a case report and literature review.Translational pediatrics · 2025Article
- PRDM15 regulates differentiation and proliferation of hematopoietic stem cells.Research square · 2025Article
- Molecular evolution of the transcription factor PRDM genes and expression profiles in response to stimulations and spinal cord injury repair in lamprey (Lethenteron reissneri).Immunogenetics · 2025Article
- Whole genome sequencing identifies monogenic disease in 56.1% of families with early-onset steroid-resistant nephrotic syndrome.Human genetics · 2025Article
- Genetics and phenotypic heterogeneity of Galloway-Mowat syndrome.Cell communication and signaling : CCS · 2025Review
- Two brothers presented with rare clinical characteristics with a novel LAGE3 variant: a case report and literature review.BMC pediatrics · 2025Review
- Mechanisms of podocyte injury in genetic kidney disease.Pediatric nephrology (Berlin, Germany) · 2025Review
- Late Presentation of Galloway-Mowat Syndrome (GAMOS) Associated With Membranous Nephropathy: A Case Report.Cureus · 2025Article
- O-Sialoglycoprotein Endopeptidase Deficiency Impairs Proteostasis and Induces Autophagy in Human Embryonic Stem Cells.International journal of molecular sciences · 2024Article
- WHAMM functions in kidney reabsorption and polymerizes actin to promote autophagosomal membrane closure and cargo sequestration.Molecular biology of the cell · 2024Article
- WHAMM functions in kidney reabsorption and polymerizes actin to promote autophagosomal membrane closure and cargo sequestration.bioRxiv : the preprint server for biology · 2024Article
- Prdm15 acts upstream of Wnt4 signaling in anterior neural development ofFrontiers in cell and developmental biology · 2024Article
- Case Report: Novel compound heterozygousFrontiers in pediatrics · 2024Article
- Review
- Branching out in different directions: Emerging cellular functions for the Arp2/3 complex and WASP-family actin nucleation factors.European journal of cell biology · 2023Article
- NovelFrontiers in molecular neuroscience · 2023Article
- The duality of PRDM proteins: epigenetic and structural perspectives.The FEBS journal · 2022Review
Corrections and comments
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Authors and funding
43 authors at 17 institutions in 6 countries.
Nina MannDepartment of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
Slim MzoughiMethyltransferases in Development and Disease Group, Institute of Molecular and Cell Biology, Agency for Science, Technology and Research, Singapore.
Ronen SchneiderDepartment of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
Susanne J KühlInstitute of Biochemistry and Molecular Biology, Ulm University, Ulm, Germany.
Denny SchanzeInstitute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany.
Verena KlämbtDepartment of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
Svjetlana LovricDepartment of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
Youying MaoDepartment of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
Shasha ShiGrenoble Alpes University, National Center for Scientific Research (CNRS), French Alternative Energies and Atomic Energy Commission (CEA), Institute of Structural Biology, Grenoble, France.
Weizhen TanDepartment of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
Michael KühlInstitute of Biochemistry and Molecular Biology, Ulm University, Ulm, Germany.
Ana C Onuchic-WhitfordDepartment of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
Ernestine TreimerInstitute for Microscopic Anatomy and Neurobiology, University Medical Center, Johannes Gutenberg University of Mainz, Mainz, Germany.
Thomas M KitzlerDepartment of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
Franziska KauseDepartment of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
Sven SchumannInstitute for Microscopic Anatomy and Neurobiology, University Medical Center, Johannes Gutenberg University of Mainz, Mainz, Germany.
Makiko NakayamaDepartment of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
Florian BuergerDepartment of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
Shirlee ShrilDepartment 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.
Amar J MajmundarDepartment of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
Kristina Marie HoltonResearch Computing, Harvard Medical School, Boston, Massachusetts.
Amy KolbDepartment 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.
Jia RaoDepartment 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.
Eva MildenbergerDivision of Neonatology, University Medical Center, Johannes Gutenberg University of Mainz, Mainz, Germany.
Thomas LennertDepartment of Pediatrics, Charité - Universitätsmedizin Berlin, Berlin, Germany.
Alma KuechlerInstitute of Human Genetics, University of Duisburg-Essen, Essen, Germany.
Dagmar WieczorekInstitute of Human Genetics, Faculty of Medicine, Heinrich Heine University Düsseldorf, Düsseldorf, Germany.
Oliver GrossClinic of Nephrology and Rheumatology, University Medical Center Goettingen, University of Goettingen, Goettingen, Germany.ORCID 0000-0002-8390-8852
Beate Ermisch-OmranDepartment of Pediatric Nephrology, University Children's Hospital, Münster, Germany.
Anja WerbergerInstitute of Biochemistry and Molecular Biology, Ulm University, Ulm, Germany.
Martin SkalejInstitute of Neuroradiology, Otto von Guericke University Magdeburg, Magdeburg, Germany.
Andreas R JaneckeDepartment of Pediatrics I, Medical University of Innsbruck, Innsbruck, Austria.
Neveen A SolimanDepartment of Pediatrics, Center of Pediatric Nephrology and Transplantation, Kasr Al Ainy School of Medicine, Cairo University, Cairo, Egypt.
Shrikant M ManeDepartment of Genetics, Yale University School of Medicine, New Haven, Connecticut.
Richard P LiftonDepartment of Genetics, Yale University School of Medicine, New Haven, Connecticut.
Jan KadlecGrenoble Alpes University, National Center for Scientific Research (CNRS), French Alternative Energies and Atomic Energy Commission (CEA), Institute of Structural Biology, Grenoble, France.
Ernesto GuccioneMethyltransferases in Development and Disease Group, Institute of Molecular and Cell Biology, Agency for Science, Technology and Research, Singapore.
Michael J SchmeisserInstitute for Microscopic Anatomy and Neurobiology, University Medical Center, Johannes Gutenberg University of Mainz, Mainz, Germany.
Martin ZenkerInstitute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany martin.zenker@med.ovgu.de friedhelm.hildebrandt@childrens.harvard.edu.
Friedhelm HildebrandtDepartment of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts martin.zenker@med.ovgu.de friedhelm.hildebrandt@childrens.harvard.edu.
Boston Children's Hospital · USJohannes Gutenberg University Mainz · DEUniversität Ulm · DEAgency for Science, Technology and Research · SGCentre National de la Recherche Scientifique · FRUniversity Hospital Magdeburg · DEYale University · USBrigham and Women's Hospital · USCairo University · EGCharité - Universitätsmedizin Berlin · DEHarvard University · USHeinrich Heine University Düsseldorf · DEInnsbruck Medical University · ATOtto-von-Guericke-Universität Magdeburg · DEUniversity Hospital Münster · DEUniversity of Duisburg-Essen · DEUniversity of Göttingen · DE
Funding
Yale Clinical and Translational Science Award (U Component)UL1TR001863 · NCATS · YALE UNIVERSITY · PI John H. Krystal, LUCILA OHNO-MACHADO · 2016 to 2026
$102.9MRenal 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
$11.0MThe Child Heath Research CenterK12HD052896 · NICHD · BOSTON CHILDREN'S HOSPITAL · PI Wendy K Chung · 2007 to 2026
$7.9MRESEARCH 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
$5.3MFUNCTIONAL CHARACTERIZATION OF NOVEL DETERMINANTS OF HOLOPROSENCEPHALY (HPE)R01HD102614 · NICHD · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI GUCCIONE, ERNESTO · 2021 to 2025
$1.8MMutations in TBC1D8B as a potential new cause of nephrotic syndromeF32DK122766 · NIDDK · BOSTON CHILDREN'S HOSPITAL · PI ONUCHIC-WHITFORD, ANA CLAUDIA · 2019 to 2020
$148kCIHRNCATS NIH HHS UL1 TR001863NHGRI NIH HHS U54 HG006504NHGRI NIH HHS UM1 HG008900NICHD NIH HHS K12 HD052896NICHD NIH HHS R01 HD102614NIDDK NIH HHS F32 DK122766NIDDK NIH HHS P30 DK079310NIDDK NIH HHS R01 DK076683NIDDK NIH HHS T32 DK007726
Abstract
backgroundGalloway-Mowat syndrome (GAMOS) is characterized by neurodevelopmental defects and a progressive nephropathy, which typically manifests as steroid-resistant nephrotic syndrome. The prognosis of GAMOS is poor, and the majority of children progress to renal failure. The discovery of monogenic causes of GAMOS has uncovered molecular pathways involved in the pathogenesis of disease.
methodsHomozygosity mapping, whole-exome sequencing, and linkage analysis were used to identify mutations in four families with a GAMOS-like phenotype, and high-throughput PCR technology was applied to 91 individuals with GAMOS and 816 individuals with isolated nephrotic syndrome.
resultsThree biallelic variants of the transcriptional regulator
conclusionsVariants in
Indexed as
Mutation, MissenseAmino Acid SequenceAmino Acid SubstitutionAnimalsCell LineChild, PreschoolDNA-Binding ProteinsFemaleGene Expression Regulation, DevelopmentalGene Knockdown TechniquesGene Knockout TechniquesHernia, HiatalHigh-Throughput Nucleotide SequencingHumansInfantInfant, NewbornDNA-Binding ProteinsPRDM15 protein, humanTranscription Factorsgenetic renal diseasegenetics and developmentnephrotic syndrome
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