ArticleNature communications2019
ABCC9-related Intellectual disability Myopathy Syndrome is a K
Open access · goldAbstract read
In one paragraph
Article in Nature communications, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers.
0numbers the graph read from it
0cells of the map it votes in
31citing papers in PubMed
4.2field-weighted citation impact, top 5% 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
31 citing papers in PubMed, 41 citations in OpenAlex.
- ABCC9/SUR2 has a Complex Expression Pattern in Human Brain Gliovascular Unit Cells, Including Astrocytes.Journal of molecular neuroscience : MN · 2026Article
- Cognitive Decline, Neurologic Involvement, and Neonatal Crisis inNeurology. Genetics · 2026Article
- From Array-CGH to Whole-Genome Sequencing: A 29-Year Diagnostic Journey Culminating in the Identification of a De Novo ABCC9 Variant Consistent with Cantú Syndrome.Diagnostics (Basel, Switzerland) · 2026Article
- Myocardial protection by adenosine triphosphate-sensitive potassium channel opener diazoxide involves sulfonylurea receptor 2 subunit.JTCVS open · 2026Article
- Muscle fatigue arising intrinsically from SUR2- but not Kir6.1-dependent gain-of-function in Cantu syndrome mice.The Journal of general physiology · 2025Article
- Bayliss-Starling Prize Lecture: KThe Journal of physiology · 2025Article
- Evaluation of Cardiomyopathy-Related Target Genes by Next-Generation Sequencing Method and Investigation of the Phenotype-Genotype Relationship.Molecular syndromology · 2025Article
- Cantú Syndrome With Acromegaloid Features, Multiple Endocrinopathies, and Infection Susceptibility.JCEM case reports · 2025Article
- Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndrome.Brain : a journal of neurology · 2024Article
- The inhibition mechanism of the SUR2A-containing KNature communications · 2023Article
- Sequence variants affecting voice pitch in humans.Science advances · 2023Article
- Skeletal muscle delimited myopathy and verapamil toxicity in SUR2 mutant mouse models of AIMS.EMBO molecular medicine · 2023Article
- Overexpression of a Short Sulfonylurea Splice Variant Increases Cardiac Glucose Uptake and Uncouples Mitochondria by Regulating ROMK Activity.Life (Basel, Switzerland) · 2023Article
- Personalized Therapeutics for KAnnual review of pharmacology and toxicology · 2023Review
- The interaction between polyphyllin I and SQLE protein induces hepatotoxicity through SREBP-2/HMGCR/SQLE/LSS pathway.Journal of pharmaceutical analysis · 2023Article
- Kir6.1 and SUR2B in Cantú syndrome.American journal of physiology. Cell physiology · 2022Review
- Structural insights into the mechanism of pancreatic KNature communications · 2022Article
- Structural identification of vasodilator binding sites on the SUR2 subunit.Nature communications · 2022Article
- Limbic-Predominant Age-Related TDP-43 Encephalopathy: Medical and Pathologic Factors Associated With Comorbid Hippocampal Sclerosis.Neurology · 2022Article
- Transcriptome-Guided Identification of Drugs for Repurposing to Treat Age-Related Hearing Loss.Biomolecules · 2022Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
25 authors at 3 institutions in 4 countries.
Marie F SmelandDepartment of Medical Genetics, University Hospital of North Norway, 9019, Tromsø, Norway. marie.smeland@unn.no.
Conor McClenaghanDepartment of Cell Biology and Physiology, and Center for the Investigation of Membrane Excitability Diseases (CIMED), Washington University, St Louis, MO, 63110, USA.
Helen I RoesslerDepartment of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, 3584 CX, Utrecht, the Netherlands.ORCID http://orcid.org/0000-0003-3409-0756
Sanne SavelbergDepartment of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, 3584 CX, Utrecht, the Netherlands.
Geir Åsmund Myge HansenDepartment of Medical Genetics, University Hospital of North Norway, 9019, Tromsø, Norway.
Helene HjellnesDepartment of Medical Genetics, University Hospital of North Norway, 9019, Tromsø, Norway.
Kjell Arne ArntzenDepartment of Neurology, University Hospital of North Norway, 9019, Tromsø, Norway.
Kai Ivar MüllerDepartment of Neurology, University Hospital of North Norway, 9019, Tromsø, Norway.ORCID http://orcid.org/0000-0002-8686-4226
Andreas Rosenberger DybeslandThe National Neuromuscular Centre of Norway, University Hospital of North Norway, 9019, Tromsø, Norway.
Theresa HarterDepartment of Cell Biology and Physiology, and Center for the Investigation of Membrane Excitability Diseases (CIMED), Washington University, St Louis, MO, 63110, USA.
Monica Sala-RabanalDepartment of Cell Biology and Physiology, and Center for the Investigation of Membrane Excitability Diseases (CIMED), Washington University, St Louis, MO, 63110, USA.
Chris H EmfingerDepartment of Cell Biology and Physiology, and Center for the Investigation of Membrane Excitability Diseases (CIMED), Washington University, St Louis, MO, 63110, USA.
Yan HuangDepartment of Cell Biology and Physiology, and Center for the Investigation of Membrane Excitability Diseases (CIMED), Washington University, St Louis, MO, 63110, USA.
Soma S SingareddyDepartment of Cell Biology and Physiology, and Center for the Investigation of Membrane Excitability Diseases (CIMED), Washington University, St Louis, MO, 63110, USA.
Jamie GunnDepartment of Psychiatry, Washington University School of Medicine, St. Louis, MO, 63110, USA.
David F WozniakDepartment of Psychiatry, Washington University School of Medicine, St. Louis, MO, 63110, USA.
Attila KovacsDepartment of Medicine, Washington University School of Medicine, St. Louis, MO, 63110, USA.
Maarten MassinkDepartment of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, 3584 CX, Utrecht, the Netherlands.
Federico TessadoriDepartment of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, 3584 CX, Utrecht, the Netherlands.ORCID http://orcid.org/0000-0001-9975-0546
Sarah M KamelHubrecht Institute-KNAW and UMC Utrecht, 3584 CT, Utrecht, the Netherlands.ORCID http://orcid.org/0000-0003-4424-9732
Jeroen BakkersHubrecht Institute-KNAW and UMC Utrecht, 3584 CT, Utrecht, the Netherlands.ORCID http://orcid.org/0000-0002-9418-0422
Maria S RemediDepartment of Medicine, Division of Endocrinology, Metabolism and Lipid Research, Washington University, St Louis, MO, 63110, USA.
Marijke Van GhelueDepartment of Medical Genetics, University Hospital of North Norway, 9019, Tromsø, Norway.
Colin G NicholsDepartment of Cell Biology and Physiology, and Center for the Investigation of Membrane Excitability Diseases (CIMED), Washington University, St Louis, MO, 63110, USA.ORCID http://orcid.org/0000-0002-4929-2134
Gijs van HaaftenDepartment of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, 3584 CX, Utrecht, the Netherlands. G.vanHaaften@umcutrecht.nl.
Washington University in St. Louis · USUniversity Hospital of North Norway · NOUniversity Medical Center Utrecht · NL
Funding
Washington University Intellectual and Developmental Disabilities Research Center-Administrative Down Syndrome SupplementU54HD087011 · NICHD · WASHINGTON UNIVERSITY · PI CONSTANTINO, JOHN N. · 2015 to 2019
$7.1MRole of vascular KATP channels in Alzheimer’s neurodegeneration and dementiaR35HL140024 · NHLBI · WASHINGTON UNIVERSITY · PI NICHOLS, COLIN G · 2018 to 2023
$5.9MNHLBI NIH HHS R35 HL140024NICHD NIH HHS U54 HD087011
Abstract
Mutations in genes encoding K
Indexed as
MutationAdenosine TriphosphateAdolescentAdultAmino Acid SequenceAnimalsCardiomegalyCell LineChannelopathiesChildDisease Models, AnimalFaciesFemaleGenetic Diseases, X-LinkedGenetic Predisposition to DiseaseHeartABCC9 protein, humanAdenosine TriphosphateMED23 protein, humanMediator ComplexMembrane ProteinsRubidiumSulfonylurea Receptors
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.