ArticleNature2023
Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.
Open access · hybridAbstract read
In one paragraph
Article in Nature, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 106 papers.
0numbers the graph read from it
0cells of the map it votes in
106citing papers in PubMed
22.3field-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
106 citing papers in PubMed, 145 citations in OpenAlex.
- How do low-complexity domain interactions control transcription?Biochemical Society transactions · 2026Review
- Decoding Biomolecular Phase Separation: From Physiological Roles to Pathological Mechanisms and Therapeutic Biomaterials Design.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Review
- High-throughput identification of endogenous biomolecular condensates and phase-separating proteins.Nature protocols · 2026Review
- Elucidating structure-function relationships in the mammalian nucleolus.Nature reviews. Molecular cell biology · 2026Review
- RSF1-Dependent PAR Turnover Promotes 53BP1 Liquid Condensate Formation at DNA Damage Sites.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Article
- Counteraction of HMGB1 at ss-dsDNA junctions maintains liquidity of protamine-DNA co-condensates.Nature communications · 2026Article
- Biomolecular condensates as dynamic regulators of musculoskeletal homeostasis, disease, and therapeutic challenges.Bone research · 2026Review
- Current Challenges of Transcription Compartmentalization Research.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Review
- Opposing roles of serine and charge in IDR condensate miscibility.Nature chemical biology · 2026Article
- The role of HMGB1 in vascular endothelial cells.Apoptosis : an international journal on programmed cell death · 2026Review
- Convergent nuclear proteostasis alterations across 40S ribosomal protein deficiencies.Nature communications · 2026Article
- Nuclear condensates formed by truncated mutant NEK1s impede ribosomal RNA biogenesis and drive motor dysfunction.Nature communications · 2026Article
- Killswitch: A universal tool to link condensate microenvironments and functions.Innovation (Cambridge (Mass.)) · 2026Review
- De novo variants in LDB1 are linked to distinct neurodevelopmental phenotypes determined by variant location and differing pathomechanisms.American journal of human genetics · 2026Article
- When truncation is not loss of function: neo-tail architecture as a determinant of pathogenicity in NMD-escaping frameshift variants.European journal of human genetics : EJHG · 2026Article
- Subcellular localization as a driver of protein function.Nature reviews. Molecular cell biology · 2026Review
- Bridging technical innovation and computational advances in studies of RNA-protein assemblies.Nature reviews. Genetics · 2026Review
- Phase separation of OPTN initiates mitophagy to orchestrate craniofacial bone mineralization.Autophagy · 2026Article
- How intrinsically disordered regions shape the function of CREB-binding protein.Biochemical Society transactions · 2026Review
- From chromosomal protein disorder to chromatin phase separation.Epigenetics & chromatin · 2026Review
46 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
40 authors at 19 institutions in 6 countries.
Martin A Mensah *Institute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany.ORCID 0000-0001-8080-8779
Henri Niskanen *Department of Genome Regulation, Max Planck Institute for Molecular Genetics, Berlin, Germany.ORCID 0000-0002-8361-5531
Alexandre P MagalhaesDepartment of Genome Regulation, Max Planck Institute for Molecular Genetics, Berlin, Germany.ORCID 0000-0002-4097-338X
Shaon BasuDepartment of Genome Regulation, Max Planck Institute for Molecular Genetics, Berlin, Germany.ORCID 0000-0003-2648-4827
Martin KircherExploratory Diagnostic Sciences, Berlin Institute of Health at Charité-Universitätsmedizin Berlin, Berlin, Germany.ORCID 0000-0001-9278-5471
Henrike L SczakielInstitute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany.
Alisa M V ReiterInstitute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany.ORCID 0000-0003-1685-6842
Jonas ElsnerInstitute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany.ORCID 0000-0002-0596-8390
Peter MeineckeInstitute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Saskia BiskupCenter for Genomics and Transcriptomics (CeGaT), Tübingen, Germany.
Brian H Y ChungDepartment of Pediatrics and Adolescent Medicine, School of Clinical Medicine, LKS Faculty of Medicine, The University of Hong Kong, Pok Fu Lam, Hong Kong.
Gregor DombrowskyDepartment of Congenital Heart Disease and Pediatric Cardiology, University Hospital Schleswig-Holstein, Kiel, Germany.
Christel Eckmann-ScholzDepartment of Obstetrics and Gynecology, University Hospital Schleswig-Holstein, Kiel, Germany.
Marc Phillip HitzDepartment of Congenital Heart Disease and Pediatric Cardiology, University Hospital Schleswig-Holstein, Kiel, Germany.ORCID 0000-0001-9894-6897
Alexander HoischenDepartment of Internal Medicine, Radboud Institute for Molecular Life Sciences, Radboud Expertise Center for Immunodeficiency and Autoinflammation and Radboud Center for Infectious Disease (RCI), Radboud University Medical Center, Nijmegen, The Netherlands.
Paul-Martin HolterhusDepartment of Pediatrics, Pediatric Endocrinology and Diabetes, University Hospital Schleswig-Holstein, Schleswig-Holstein, Germany.
Wiebke HülsemannHandchirurgie, Katholisches Kinderkrankenhaus Wilhelmstift, Hamburg, Germany.
Kimia KahriziGenetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
Vera M KalscheuerRG Development and Disease, Max Planck Institute for Molecular Genetics, Berlin, Germany.ORCID 0000-0001-6898-3259
Anita KanDepartment of Obstetrics and Gynaecology, Queen Mary Hospital, Pok Fu Lam, Hong Kong.
Mandy KrumbiegelInstitute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.
Ingo KurthInstitute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University Hospital, Aachen, Germany.ORCID 0000-0002-5642-8378
Jonas LeubnerDepartment of Pediatric Neurology, Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany.
Ann Carolin LongardtDepartment of Pediatrics, University Hospital Center Schleswig-Holstein, Kiel, Germany.
Jörg D MoritzDepartment of Radiology and Neuroradiology, Pediatric Radiology, University Hospital Schleswig-Holstein, Kiel, Germany.
Hossein NajmabadiGenetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
Karolina SkipalovaInstitute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany.
Lot Snijders BlokDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
Andreas TzschachInstitute of Human Genetics, Medical Center, University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.ORCID 0000-0002-6840-965X
Eberhard WiedersbergZentrum für Kinder-und Jugendmedizin, Helios Kliniken Schwerin, Schwerin, Germany.
Martin ZenkerInstitute of Human Genetics, University Hospital, Otto-von-Guericke University, Magdeburg, Germany.ORCID 0000-0003-1618-9269
Carla Garcia-CabauInstitute for Research in Biomedicine (IRB Barcelona), The Barcelona Institute of Science and Technology, Barcelona, Spain.ORCID 0000-0003-0533-0642
René BuschowMicroscopy Core Facility, Max Planck Institute for Molecular Genetics, Berlin, Germany.ORCID 0000-0002-9800-2578
Xavier SalvatellaInstitute for Research in Biomedicine (IRB Barcelona), The Barcelona Institute of Science and Technology, Barcelona, Spain.ORCID 0000-0002-8371-4185
Matthew L KrausharDepartment of Genome Regulation, Max Planck Institute for Molecular Genetics, Berlin, Germany.ORCID 0000-0002-7359-0318
Stefan MundlosInstitute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany.ORCID 0000-0002-9788-3166
Almuth CaliebeInstitute of Human Genetics, University Hospitals Schleswig-Holstein, University of Lübeck and Kiel University, Lübeck, Kiel, Germany.ORCID 0000-0003-2157-425X
Malte SpielmannRG Development and Disease, Max Planck Institute for Molecular Genetics, Berlin, Germany. Malte.Spielmann@uksh.de.ORCID 0000-0002-0583-4683
Denise HornInstitute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany. Denise.Horn@charite.de.ORCID 0000-0003-0870-8911
Denes HniszDepartment of Genome Regulation, Max Planck Institute for Molecular Genetics, Berlin, Germany. hnisz@molgen.mpg.de.ORCID 0000-0002-6256-1693
Humboldt-Universität zu Berlin · DEMax Planck Institute for Molecular Genetics · DEUniversity Hospital Schleswig-Holstein · DEChristian-Albrechts-Universität zu Kiel · DECarl von Ossietzky Universität Oldenburg · DERadboud University Nijmegen · NLUniversity of Social Welfare and Rehabilitation Sciences · IRCeGaT (Germany) · DEFriedrich-Alexander-Universität Erlangen-Nürnberg · DEHelios Hospital Schwerin · DEInstitució Catalana de Recerca i Estudis Avançats · ESInstitute for Research in Biomedicine · ESKatholisches Kinderkrankenhaus Wilhelmstift · DEOtto-von-Guericke-Universität Magdeburg · DEQueen Mary Hospital · CNUniversität Hamburg · DEUniversitätsklinikum Aachen · DEUniversity of Freiburg · DEUniversity of Hong Kong · HK
Funding
No grant is acknowledged in the PubMed record.
Abstract
Thousands of genetic variants in protein-coding genes have been linked to disease. However, the functional impact of most variants is unknown as they occur within intrinsically disordered protein regions that have poorly defined functions
Indexed as
Cell NucleolusHMGB1 ProteinArginineCraniofacial AbnormalitiesFoot Deformities, CongenitalFrameshift MutationHumansIntrinsically Disordered ProteinsPhase TransitionPolydactylySyndromeTibiaArginineHMGB1 ProteinHMGB1 protein, humanIntrinsically Disordered Proteins
Identifiers
What OpenQuestion holds
Textmetadata
LicenceCC BY
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.