ArticleNature genetics2017
Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.
Open access · bronzeAbstract read
In one paragraph
Article in Nature genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 136 papers.
0numbers the graph read from it
0cells of the map it votes in
136citing papers in PubMed
13.5field-weighted citation impact, top 1% of its field
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
136 citing papers in PubMed, 218 citations in OpenAlex.
- Genetic insights into congenital and infantile nephrotic syndrome: predicting severity and informing care.Pediatric nephrology (Berlin, Germany) · 2026Review
- L Antigen Family Member 3 stabilizes stalled replication forks by reducing MRE11 resection to maintain genome stability.Nucleic acids research · 2026Article
- RNA Chemical Modifications in Mammalian Skeletal Muscle Development, Homeostasis, and Disease: Regulatory Mechanisms and Chemical Biology Perspectives.Molecules (Basel, Switzerland) · 2026Review
- Catalytic and regulatory basis of tRNA tNature communications · 2026Article
- Structural and biochemical characterization of yeast Tcd enzymes installing the post-transcriptional modification ct6A in tRNA.Nucleic acids research · 2026Article
- CDKAL1 dysfunction impairs lysine codon translation in podocytes and accelerates chronic kidney disease.The EMBO journal · 2026Article
- Bilateral Cochlear Implantation in a Child With Galloway-Mowat Syndrome: A Case Report.The American journal of case reports · 2026Article
- Disruption of tRNA threonylation triggers RIG-I mediated anti-tumour immune response.Nature communications · 2026Article
- A novel homozygous in-frame deletion variant in TPRKB causing Galloway-Mowat syndrome 5.Neurogenetics · 2026Article
- Consanguinity-linked genetic variants in Algerian patients with steroid-resistant nephrotic syndrome: a familial study.Pediatric nephrology (Berlin, Germany) · 2026Article
- Maximizing Diagnostic Yield in Intellectual Disability Through Exome Sequencing: Genotype-Phenotype Insights in a Vietnamese Cohort.Diagnostics (Basel, Switzerland) · 2025Article
- Identifying TP53RK as a key regulator of colorectal cancer survival and a potential therapeutic target.Scientific reports · 2025Article
- ADAT3 variants disrupt the activity of the ADAT tRNA deaminase complex and impair neuronal migration.Brain : a journal of neurology · 2025Article
- Detecting Deleterious Recessive Variants in Large Yellow Croaker Using Data from 7337 Individuals.Marine biotechnology (New York, N.Y.) · 2025Article
- Loss of genome maintenance is linked to mTOR complex 1 signaling and accelerates podocyte damage.JCI insight · 2025Article
- Genetics and phenotypic heterogeneity of Galloway-Mowat syndrome.Cell communication and signaling : CCS · 2025Review
- Dynamics of mitochondrial DNA copy number regulation in relation to gastric cancer survival.Discover oncology · 2025Article
- 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
- Genetic and clinical spectrum of steroid-resistant nephrotic syndrome with nuclear pore gene mutation.Pediatric nephrology (Berlin, Germany) · 2025Article
76 more citing papers are in PubMed but not listed here.
Corrections and comments
- Commented on by
Authors and funding
102 authors at 20 institutions in 23 countries.
Daniela A BraunDepartment of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Jia RaoDepartment of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Geraldine MolletLaboratory of Hereditary Kidney Diseases, INSERM UMR1163, Imagine Institute, Paris, France.
David SchapiroDepartment of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Marie-Claire DaugeronInstitute for Integrative Biology of the Cell (I2BC), CEA, CNRS, Université Paris-Sud, Université Paris-Saclay, Gif-sur-Yvette, France.
Weizhen TanDepartment of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Olivier GribouvalLaboratory of Hereditary Kidney Diseases, INSERM UMR1163, Imagine Institute, Paris, France.ORCID http://orcid.org/0000-0003-0238-8224
Olivia BoyerLaboratory of Hereditary Kidney Diseases, INSERM UMR1163, Imagine Institute, Paris, France.
Patrick RevyUniversité Paris Descartes-Sorbonne Paris Cité, Imagine Institute, Paris, France.
Tilman Jobst-SchwanDepartment of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Johanna Magdalena SchmidtDepartment of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Jennifer A LawsonDepartment of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Denny SchanzeInstitute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany.ORCID http://orcid.org/0000-0003-2748-9929
Shazia AshrafDepartment of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Jeremy F P UllmannEpilepsy Genetics Program and F.M. Kirby Neurobiology Center, Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA.
Charlotte A HoogstratenDepartment of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Nathalie BoddaertUniversité Paris Descartes-Sorbonne Paris Cité, Imagine Institute, Paris, France.ORCID http://orcid.org/0000-0003-0991-7774
Bruno CollinetInstitute for Integrative Biology of the Cell (I2BC), CEA, CNRS, Université Paris-Sud, Université Paris-Saclay, Gif-sur-Yvette, France.
Gaëlle MartinLaboratory of Hereditary Kidney Diseases, INSERM UMR1163, Imagine Institute, Paris, France.
Dominique LigerInstitute for Integrative Biology of the Cell (I2BC), CEA, CNRS, Université Paris-Sud, Université Paris-Saclay, Gif-sur-Yvette, France.
Svjetlana LovricDepartment of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Monica FurlanoLaboratory of Hereditary Kidney Diseases, INSERM UMR1163, Imagine Institute, Paris, France.
I Chiara GuerreraProteomics platform 3P5-Necker, Université Paris Descartes-Structure Fédérative de Recherche Necker, INSERM US24/CNRS UMS3633, Paris, France.
Oraly Sanchez-FerrasGoodman Cancer Research Centre and Department of Biochemistry, McGill University, Montreal, Quebec, Canada.
Jennifer F HuDepartments of Chemistry and Biological Engineering, Massachusetts Institute of Technology, Cambridge, Massachusetts, USA.ORCID http://orcid.org/0000-0002-6049-7595
Anne-Claire BoschatMass Spectrometry Platform, Imagine Institute, Paris, France.
Sylvia SanquerDepartment of Metabolomic and Proteomic Biochemistry, Necker Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France.
Björn MentenCenter for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
Sarah VergultCenter for Medical Genetics, Ghent University Hospital, Ghent, Belgium.ORCID http://orcid.org/0000-0002-0816-6262
Nina De RockerCenter for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
Merlin AirikDepartment of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Tobias HermleDepartment of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Shirlee ShrilDepartment of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Eugen WidmeierDepartment of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Heon Yung GeeDepartment of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.ORCID http://orcid.org/0000-0002-8741-6177
Won-Il ChoiDepartment of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Carolin E SadowskiDepartment of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Werner L PabstDepartment of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Jillian K WarejkoDepartment of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Ankana DagaDepartment of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Tamara BastaInstitute for Integrative Biology of the Cell (I2BC), CEA, CNRS, Université Paris-Sud, Université Paris-Saclay, Gif-sur-Yvette, France.
Verena MatejasInstitute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.ORCID http://orcid.org/0000-0002-2675-0374
Karin ScharmannMax Planck Institute for Molecular Biomedicine, Muenster, Germany.
Sandra D KienastMax Planck Institute for Molecular Biomedicine, Muenster, Germany.
Babak BehnamDepartment of Medical Genetics and Molecular Biology, Iran University of Medical Sciences (IUMS), Tehran, Iran.ORCID http://orcid.org/0000-0002-1266-1602
Brendan BeesonDepartment of Diagnostic Imaging, Princess Margaret and King Edward Memorial Hospitals, Perth, Western Australia, Australia.
Amber BegtrupGeneDx, Gaithersburg, Maryland, USA.
Malcolm BruceDepartment of Diagnostic Imaging, Princess Margaret and King Edward Memorial Hospitals, Perth, Western Australia, Australia.
Gaik-Siew Ch'ngDepartment of Genetics, Kuala Lumpur Hospital, Kuala Lumpur, Malaysia.
Shuan-Pei LinDepartment of Pediatric Genetics, MacKay Children's Hospital, Taipei, Taiwan.
Jui-Hsing ChangDepartment of Pediatrics, MacKay Children's Hospital, Taipei, Taiwan.
Chao-Huei ChenDepartment of Pediatrics, Taichung Veterans General Hospital, Taichung, Taiwan.
Megan T ChoGeneDx, Gaithersburg, Maryland, USA.
Patrick M GaffneyDepartment of Arthritis and Clinical Immunology, Oklahoma Medical Research Foundation, Oklahoma City, Oklahoma, USA.
Patrick E GipsonInternal Medicine and Pediatrics Divisions of Adult and Pediatric Nephrology, University of Michigan, Ann Arbor, Michigan, USA.
Chyong-Hsin HsuDepartment of Pediatrics, MacKay Children's Hospital, Taipei, Taiwan.
Jameela A KariPediatric Nephrology Center of Excellence and Pediatric Department, King Abdulaziz University, Jeddah, Saudi Arabia.
Yu-Yuan KeDepartment of Pediatrics, Taichung Veterans General Hospital, Taichung, Taiwan.
Cathy Kiraly-BorriGenetic Services of Western Australia, Princess Margaret Hospital for Children and King Edward Memorial Hospital for Women, Subiaco, Western Australia, Australia.
Wai-Ming LaiDepartment of Paediatrics and Adolescent Medicine, Princess Margaret Hospital, Hong Kong, China.
Emmanuelle LemyreService de Génétique Médicale, Département de Pédiatrie, CHU Sainte-Justine, Université de Montréal, Montréal, Québec, Canada.
Rebecca Okashah LittlejohnDepartment of Pediatrics, Baylor College of Medicine, San Antonio, Texas, USA.
Amira MasriDepartment of Pediatrics, Division of Child Neurology, Faculty of Medicine, University of Jordan, Amman, Jordan.
Mastaneh MoghtaderiChronic Kidney Disease Research Center, Tehran University of Medical Science, Tehran, Iran.
Kazuyuki NakamuraDepartment of Pediatrics, Yamagata University School of Medicine, Yamagata, Japan.
Fatih OzaltinDepartment of Pediatric Nephrology, Hacettepe University Faculty of Medicine, Hacettepe University, Ankara, Turkey.
Marleen PraetDepartment of Pathology, Ghent University Hospital, Ghent, Belgium.
Chitra PrasadDepartment of Genetics, Metabolism and Pediatrics, Western University, London Health Sciences Centre, London, Ontario, Canada.
Agnieszka PrytulaDepartment of Pediatrics, Ghent University Hospital, Ghent, Belgium.ORCID http://orcid.org/0000-0001-9551-8758
Elizabeth R RoederDepartment of Pediatrics, Baylor College of Medicine, San Antonio, Texas, USA.
Patrick RumpDepartment of Genetics, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.ORCID http://orcid.org/0000-0003-4059-0247
Rhonda E SchnurGeneDx, Gaithersburg, Maryland, USA.
Takashi ShiiharaDepartment of Pediatrics, Yamagata University School of Medicine, Yamagata, Japan.
Manish D SinhaDepartment of Paediatric Nephrology, Kings College London, Evelina London Children's Hospital, Guy's and St Thomas' NHS Foundation Trust, London, UK.
Neveen A SolimanDepartment of Pediatrics, Center of Pediatric Nephrology &Transplantation, Kasr Al Ainy School of Medicine, Cairo University, Cairo, Egypt.
Kenza SoulamiDepartment of Nephrology, Ibn Rochd University Hospital, Casablanca, Morocco.
David A SweetserDivision of Medical Genetics, Massachusetts General Hospital for Children, Boston, Massachusetts, USA.
Wen-Hui TsaiDivision of Genetics and Metabolism, Department of Pediatrics, Chi Mei Medical Center, Tainan, Taiwan.
Jeng-Daw TsaiDepartment of Medicine, MacKay Medical College, New Taipei City, Taiwan.
Rezan TopalogluDepartment of Pediatric Nephrology, Hacettepe University Faculty of Medicine, Hacettepe University, Ankara, Turkey.
Udo VesterDepartment of Pediatrics II, University Hospital Essen, Essen, Germany.
David H ViskochilDepartment of Pediatrics, Division of Medical Genetics, University of Utah School of Medicine, Salt Lake City, Utah, USA.
Nithiwat VatanavicharnDivision of Medical Genetics, Department of Pediatrics, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.
Jessica L WaxlerDivision of Medical Genetics, Massachusetts General Hospital for Children, Boston, Massachusetts, USA.
Klaas J WierengaDepartment of Pediatrics, Oklahoma University Health Sciences Center (OUHSC), Oklahoma City, Oklahoma, USA.
Matthias T F WolfDivision of Pediatric Nephrology, Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, Texas, USA.
Sik-Nin WongDepartment of Pediatrics and Adolescent Medicine, Tuen Mun Hospital, Tuen Mun, Hong Kong, China.
Sebastian A LeidelMax Planck Institute for Molecular Biomedicine, Muenster, Germany.
Gessica TruglioEpilepsy Genetics Program and F.M. Kirby Neurobiology Center, Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA.
Peter C DedonDepartment of Biological Engineering, Massachusetts Institute of Technology, Cambridge, Massachusetts, USA.
Annapurna PoduriEpilepsy Genetics Program and F.M. Kirby Neurobiology Center, Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA.
Shrikant ManeDepartment of Genetics, Yale University School of Medicine, New Haven, Connecticut, USA.
Richard P LiftonDepartment of Genetics, Yale University School of Medicine, New Haven, Connecticut, USA.
Maxime BouchardGoodman Cancer Research Centre and Department of Biochemistry, McGill University, Montreal, Quebec, Canada.
Peter KannuDepartment of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
David ChitayatDepartment of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
Daniella MagenPediatric Nephrology Institute, Rambam Health Care Campus, Haifa, Israel.
Bert CallewaertCenter for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
Herman van TilbeurghInstitute for Integrative Biology of the Cell (I2BC), CEA, CNRS, Université Paris-Sud, Université Paris-Saclay, Gif-sur-Yvette, France.
Martin ZenkerInstitute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany.
Corinne AntignacLaboratory of Hereditary Kidney Diseases, INSERM UMR1163, Imagine Institute, Paris, France.ORCID http://orcid.org/0000-0002-9934-4940
Friedhelm HildebrandtDepartment of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.ORCID http://orcid.org/0000-0002-7130-0030
Boston Children's Hospital · USDélégation Paris 5 · FRGhent University Hospital · BEUniversité Paris-Sud · FRBoston University · USMackay Memorial Hospital · TWPrincess Margaret Hospital for Children · AUBaylor College of Medicine · USHacettepe University · TRMax Planck Institute for Molecular Biomedicine · DEMcGill University Health Centre · CATaichung Veterans General Hospital · TWUniversity Hospital Magdeburg · DEUniversity of Toronto · CAYale University · USYamagata University · JPCairo University · EGCentre Hospitalier Universitaire Ibn Rochd · MACentre Hospitalier Universitaire Sainte-Justine · CAChi Mei Medical Center · TW
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 SOMLO, STEFAN · 2008 to 2022
$16.8MTRAINING GRANTS IN ENVIROMENTAL TOXICOLOGYT32ES007020 · NIEHS · MASSACHUSETTS INSTITUTE OF TECHNOLOGY · PI ESSIGMANN, JOHN M · 1985 to 2024
$13.1MYale Center for Mendelian DisordersU54HG006504 · NHGRI · YALE UNIVERSITY · PI GERSTEIN, MARK BENDER, GUNEL, MURAT · 2012 to 2015
$11.0MQuantitative Analysis Core P30GM110766 · NIGMS · OKLAHOMA MEDICAL RESEARCH FOUNDATION · PI GAFFNEY, PATRICK M · 2014 to 2018
$6.1MRESEARCH 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
$5.3MMouse Neurodevelopmental Behavior CoreU54HD090255 · NICHD · BOSTON CHILDREN'S HOSPITAL · PI SAHIN, MUSTAFA · 2016 to 2020
$5.2MHigh Performance Computing Instrumentation for the Yale Center for Genome AnalysiS10OD018521 · OD · YALE UNIVERSITY · PI MANE, SHRIKANT M · 2015 to 2015
$890kThe Role of Uromodulin in the Regulation of the Renal Calcium Channel TRPV5K08DK095994 · NIDDK · UT SOUTHWESTERN MEDICAL CENTER · PI WOLF, MATTHIAS TILMANN FLORIAN · 2012 to 2015
$581kNCATS NIH HHS UL1 TR001863NHGRI NIH HHS U54 HG006504NICHD NIH HHS U54 HD090255NIDDK NIH HHS K08 DK095994NIDDK NIH HHS P30 DK079310NIDDK NIH HHS R01 DK076683NIDDK NIH HHS T32 DK007726NIEHS NIH HHS T32 ES007020NIGMS NIH HHS P30 GM110766NIH HHS S10 OD018521
Abstract
Galloway-Mowat syndrome (GAMOS) is an autosomal-recessive disease characterized by the combination of early-onset nephrotic syndrome (SRNS) and microcephaly with brain anomalies. Here we identified recessive mutations in OSGEP, TP53RK, TPRKB, and LAGE3, genes encoding the four subunits of the KEOPS complex, in 37 individuals from 32 families with GAMOS. CRISPR-Cas9 knockout in zebrafish and mice recapitulated the human phenotype of primary microcephaly and resulted in early lethality. Knockdown of OSGEP, TP53RK, or TPRKB inhibited cell proliferation, which human mutations did not rescue. Furthermore, knockdown of these genes impaired protein translation, caused endoplasmic reticulum stress, activated DNA-damage-response signaling, and ultimately induced apoptosis. Knockdown of OSGEP or TP53RK induced defects in the actin cytoskeleton and decreased the migration rate of human podocytes, an established intermediate phenotype of SRNS. We thus identified four new monogenic causes of GAMOS, describe a link between KEOPS function and human disease, and delineate potential pathogenic mechanisms.
Indexed as
MutationAnimalsApoptosisCarrier ProteinsCell MovementCRISPR-Cas SystemsCytoskeletonDNA RepairEndoplasmic Reticulum StressGene Knockout TechniquesHernia, HiatalHumansIntracellular Signaling Peptides and ProteinsMetalloendopeptidasesMiceMicrocephalyCarrier ProteinsIntracellular Signaling Peptides and ProteinsLAGE3 protein, humanMetalloendopeptidasesMultiprotein ComplexesO-sialoglycoprotein endopeptidaseProtein Serine-Threonine KinasesRNA, TransferTP53RK protein, humanTPRKB protein, humanZebrafish Proteins
Identifiers
What OpenQuestion holds
Textmetadata
LicenceTDM
Read underepoch 390
Registered trials
None linked
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.