ArticleAmerican journal of human genetics2018
Variants in PUS7 Cause Intellectual Disability with Speech Delay, Microcephaly, Short Stature, and Aggressive Behavior.
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Article in American journal of human genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 81 papers.
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81citing papers in PubMed
5.8field-weighted citation impact, top 3% of its field
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Who cites it
81 citing papers in PubMed, 133 citations in OpenAlex.
- PUS7 mRNA pseudouridylation is driven by RNA sequence, structure, and cell-type-specific features.Cell genomics · 2026Article
- PUS7 pseudouridylation of 7SK orchestrates human somatic cell reprogramming into iPS cells.Nature chemical biology · 2026Article
- Novel Variants in PUS7 Associated With Intellectual Disability and Growth Retardation: Expanding the Clinical Spectrum in 13 Patients.Clinical genetics · 2026Article
- Article
- The impact of psuedouridine modification on human tRNA.Biochemical Society transactions · 2026Review
- Enzyme-mediated alkynylation enables transcriptome-wide identification of pseudouridine modifications.Nature communications · 2026Article
- Mechanistic insight into the pseudouridylation of RNA.RNA biology · 2025Review
- tRNA modifications: greasing the wheels of translation and beyond.RNA biology · 2025Review
- A comprehensive tRNA pseudouridine map uncovers targets dependent on human stand-alone pseudouridine synthases.Nature cell biology · 2025Article
- Nano-Mod-Amp reveals RNA sequence, structural and cell type specific features of pseudouridylation by PUS7.bioRxiv : the preprint server for biology · 2025Article
- PUS7-dependent Ψ reshapes specific synaptic gene exons to facilitate fear extinction memory formation.Molecular brain · 2025Article
- Review
- ADAT3 variants disrupt the activity of the ADAT tRNA deaminase complex and impair neuronal migration.Brain : a journal of neurology · 2025Article
- Review
- PUS7 promotes the progression of pancreatic cancer by interacting ANLN to activate MYC pathway.Molecular and cellular biochemistry · 2025Article
- The importance of physiological and disease contexts in capturing mRNA modifications.Nature structural & molecular biology · 2025Review
- Transfer RNA acetylation regulates in vivo mammalian stress signaling.Science advances · 2025Article
- Deciphering the pseudouridine nucleobase modification in human diseases: From molecular mechanisms to clinical perspectives.Clinical and translational medicine · 2025Review
- Identification of novel genetic loci related to dromedary camel (Camelus dromedarius) morphometrics, biomechanics, and behavior by genome-wide association studies.BMC veterinary research · 2024Article
- Transfer RNA acetylation regulates in vivo mammalian stress signaling.bioRxiv : the preprint server for biology · 2024Article
21 more citing papers are in PubMed but not listed here.
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Authors and funding
28 authors at 9 institutions in 8 countries.
Arjan P M de BrouwerDepartment of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500HB Nijmegen, the Netherlands. Electronic address: arjan.debrouwer@radboudumc.nl.
Rami Abou JamraInstitute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany; Institute of Human Genetics, University Medical Center Leipzig, 04109 Leipzig, Germany.
Nadine KörtelLaboratory of RNA Epigenetics, Institute of Molecular Biology (IMB), 55128 Mainz, Germany.
Clara SoyrisDepartment of Molecular Genetics, Weizmann Institute of Science, Rehovot 76100, Israel.
Daniel L PollaDepartment of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500HB Nijmegen, the Netherlands; CAPES Foundation, Ministry of Education of Brazil, 70040-020 Brasília, Brazil.
Modi SafraDepartment of Molecular Genetics, Weizmann Institute of Science, Rehovot 76100, Israel.
Avia ZissoDepartment of Molecular Genetics, Weizmann Institute of Science, Rehovot 76100, Israel.
Christopher A PowellMRC Mitochondrial Biology Unit, University of Cambridge, Cambridge CB2 0XY, UK.
Pedro Rebelo-GuiomarMRC Mitochondrial Biology Unit, University of Cambridge, Cambridge CB2 0XY, UK.
Nadja DingesLaboratory of RNA Epigenetics, Institute of Molecular Biology (IMB), 55128 Mainz, Germany.
Violeta MorinLaboratory of RNA Epigenetics, Institute of Molecular Biology (IMB), 55128 Mainz, Germany.
Michael StockLaboratory of RNA Epigenetics, Institute of Molecular Biology (IMB), 55128 Mainz, Germany.
Mureed HussainDepartment of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500HB Nijmegen, the Netherlands; National Centre of Excellence in Molecular Biology, University of The Punjab, Lahore 53700, Pakistan; Department of Otorhinolaryngology-Head and Neck Surgery, University of Maryland, School of Medicine, Baltimore, MD 21201-1734, USA.
Mohsin ShahzadCenter for Genetic Diseases, Shaheed Zulfiqar Ali Bhutto Medical University, Pakistan Institute of Medical Sciences, Islamabad 44000, Pakistan.
Saima RiazuddinDepartment of Otorhinolaryngology-Head and Neck Surgery, University of Maryland, School of Medicine, Baltimore, MD 21201-1734, USA.
Zubair M AhmedDepartment of Otorhinolaryngology-Head and Neck Surgery, University of Maryland, School of Medicine, Baltimore, MD 21201-1734, USA.
Rolph PfundtDepartment of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500HB Nijmegen, the Netherlands.
Franziska SchwarzDepartment of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500HB Nijmegen, the Netherlands.
Lonneke de BoerDepartment of Paediatrics, Radboud Center for Mitochondrial Medicine, Radboud University Medical Center, 6525 GA Nijmegen, the Netherlands.
André ReisInstitute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany.
Detilina GrozevaDepartment of Medical Genetics, University of Cambridge, Cambridge CB2 0QQ, UK.
F Lucy RaymondDepartment of Medical Genetics, University of Cambridge, Cambridge CB2 0QQ, UK.
Sheikh RiazuddinNational Centre of Excellence in Molecular Biology, University of The Punjab, Lahore 53700, Pakistan; Center for Genetic Diseases, Shaheed Zulfiqar Ali Bhutto Medical University, Pakistan Institute of Medical Sciences, Islamabad 44000, Pakistan; Allama Iqbal Medical College, University of Health Sciences, Lahore 54600, Pakistan.
David A KoolenDepartment of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500HB Nijmegen, the Netherlands.
Michal MinczukMRC Mitochondrial Biology Unit, University of Cambridge, Cambridge CB2 0XY, UK.
Jean-Yves RoignantLaboratory of RNA Epigenetics, Institute of Molecular Biology (IMB), 55128 Mainz, Germany.
Hans van BokhovenDepartment of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500HB Nijmegen, the Netherlands.
Schraga SchwartzDepartment of Molecular Genetics, Weizmann Institute of Science, Rehovot 76100, Israel. Electronic address: schwartz@weizmann.ac.il.
Radboud University Nijmegen · NLInstitute of Molecular Biology · DEUniversity of Cambridge · GBWeizmann Institute of Science · ILUniversity of Maryland, Baltimore · USFriedrich-Alexander-Universität Erlangen-Nürnberg · DEAllama Iqbal Medical College · PKMinistry of Education · BRPakistan Institute of Medical Sciences · PK
Funding
Genetics and Functional Studies of Autosomal Recessive Neurological DisordersR01NS107428 · NINDS · UNIVERSITY OF MARYLAND BALTIMORE · PI Saima Riazuddin · 2018 to 2026
$4.7MMedical Research Council MC_UU_00015/4NINDS NIH HHS R01 NS107428
Abstract
We describe six persons from three families with three homozygous protein truncating variants in PUS7: c.89_90del (p.Thr30Lysfs
Indexed as
AdolescentAggressionAnimalsChildDrosophila melanogasterDwarfismExonsFemaleGene Knockout TechniquesGenetic VariationHomozygoteHumansIntellectual DisabilityLanguage Development DisordersMaleMicrocephalyRNA, MessengerRNA, Transferaggressive behaviorDrosophila melanogastergrowth delayintellectual disabilitymicrocephalymRNA substratesneurodevelopmental delaypseudouridylationspeech delaytRNA
Identifiers
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