ArticleThe New England journal of medicine2014
A form of the metabolic syndrome associated with mutations in DYRK1B.
Open access · bronzeAbstract read
In one paragraph
Article in The New England journal of medicine, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 82 papers, 1 of them a synthesis that pooled it.
0numbers the graph read from it
0cells of the map it votes in
82citing papers in PubMed, 1 pooled it
15.4field-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
82 citing papers in PubMed, 1 synthesis or guideline pooled it, 165 citations in OpenAlex.
- A meta-analysis of genome-wide association studies for average daily gain and lean meat percentage in two Duroc pig populations.BMC genomics · 2021Pooled it
- Small-Molecule-Mediated Depletion of the Dual-Specificity Tyrosine Phosphorylation-Regulated Kinase 1B (DYRK1B) Protein Scaffold.ACS pharmacology & translational science · 2026Article
- Phosphoproteomics identifies the DYRK1B protein kinase as a regulator of processing bodies.Journal of cell science · 2026Article
- Management of Childhood Obesity.International journal of molecular sciences · 2026Review
- Targeting DYRKs in Cardiovascular Diseases: From Biological Mechanisms to Therapeutic Translation.International journal of molecular sciences · 2026Review
- Dyrk1b as a potential biomarker for sarcopenia in older adults.BMC geriatrics · 2025Article
- DYRK1B phosphorylates FOXO1 to promote hepatic gluconeogenesis.Nucleic acids research · 2025Article
- The expanding landscape of genetic causes of obesity.Pediatric research · 2025Review
- MyocardialAntioxidants (Basel, Switzerland) · 2025Article
- Discovery of a selective dual-specificity tyrosine phosphorylation-regulated kinase 1B inhibitor with anti-adipogenic and anti-diabetic activities.Frontiers in pharmacology · 2025Article
- Hepatic Dyrk1b impairs systemic glucose homeostasis by modulating Wbp2 expression in a kinase activity-dependent manner.Heliyon · 2024Article
- Black beans (Food science and biotechnology · 2024Article
- Updates on Rare Genetic Variants, Genetic Testing, and Gene Therapy in Individuals With Obesity.Current obesity reports · 2024Review
- Identification and functional validation of rare coding variants in genes linked to monogenic obesity.Obesity (Silver Spring, Md.) · 2024Article
- Abdominal Obesity-Metabolic Syndrome 3 Misclassified as Type 1 Diabetes Mellitus.JCEM case reports · 2024Article
- Risk factors for enhanced recovery after surgery failure in patients undergoing lung cancer resection with concomitant cardiovascular disease: A single-center retrospective study.Asia-Pacific journal of oncology nursing · 2024Article
- Functional characterization of two DYRK1B variants causative of AOMS3.Orphanet journal of rare diseases · 2024Article
- Association between a polygenic lipodystrophy genetic risk score and diabetes risk in the high prevalence Maltese population.Acta diabetologica · 2024Article
- Mirk/Dyrk1B Kinase Inhibitors in Targeted Cancer Therapy.Pharmaceutics · 2024Review
- Mirk/Dyrk1B controls ventral spinal cord development via Shh pathway.Cellular and molecular life sciences : CMLS · 2024Article
22 more citing papers are in PubMed but not listed here.
Corrections and comments
- Commented on by
- Commented on by
- Commented on by
- Commented on by
- Commented on by
- Commented on by
Authors and funding
17 authors at 6 institutions in 3 countries.
Ali R Keramati *Department of Internal Medicine, Yale Cardiovascular Research Center (A.R.K., M.F., G.-W.G., R.S., S.F., J.H., A.M.), Yale Center for Mendelian Genomics (M.C., S.M., R.P.L., A.M.), Department of Genetics (K.K.K., R.P.L., A.M.), and Howard Hughes Medical Institute (R.P.L.), Yale University School of Medicine, New Haven, CT; the Digestive Disease Research Institute, Shariati Hospital (M.F., K.S.-F., R.M.), and Department of Medical Genetics (M.F.), Tehran University of Medical Sciences, Tehran, the Cardiovascular Research Center, Shiraz University of Medical Sciences, Shiraz (M.K., K.S.-F., M.A.B.B.), and Ardabil University of Medical Sciences, Ardabil (A.H., M.B.) - all in Iran.
Mohsen Fathzadeh *Department of Internal Medicine, Yale Cardiovascular Research Center (A.R.K., M.F., G.-W.G., R.S., S.F., J.H., A.M.), Yale Center for Mendelian Genomics (M.C., S.M., R.P.L., A.M.), Department of Genetics (K.K.K., R.P.L., A.M.), and Howard Hughes Medical Institute (R.P.L.), Yale University School of Medicine, New Haven, CT; the Digestive Disease Research Institute, Shariati Hospital (M.F., K.S.-F., R.M.), and Department of Medical Genetics (M.F.), Tehran University of Medical Sciences, Tehran, the Cardiovascular Research Center, Shiraz University of Medical Sciences, Shiraz (M.K., K.S.-F., M.A.B.B.), and Ardabil University of Medical Sciences, Ardabil (A.H., M.B.) - all in Iran.
Gwang-Woong Go *Department of Internal Medicine, Yale Cardiovascular Research Center (A.R.K., M.F., G.-W.G., R.S., S.F., J.H., A.M.), Yale Center for Mendelian Genomics (M.C., S.M., R.P.L., A.M.), Department of Genetics (K.K.K., R.P.L., A.M.), and Howard Hughes Medical Institute (R.P.L.), Yale University School of Medicine, New Haven, CT; the Digestive Disease Research Institute, Shariati Hospital (M.F., K.S.-F., R.M.), and Department of Medical Genetics (M.F.), Tehran University of Medical Sciences, Tehran, the Cardiovascular Research Center, Shiraz University of Medical Sciences, Shiraz (M.K., K.S.-F., M.A.B.B.), and Ardabil University of Medical Sciences, Ardabil (A.H., M.B.) - all in Iran.
Rajvir Singh *Department of Internal Medicine, Yale Cardiovascular Research Center (A.R.K., M.F., G.-W.G., R.S., S.F., J.H., A.M.), Yale Center for Mendelian Genomics (M.C., S.M., R.P.L., A.M.), Department of Genetics (K.K.K., R.P.L., A.M.), and Howard Hughes Medical Institute (R.P.L.), Yale University School of Medicine, New Haven, CT; the Digestive Disease Research Institute, Shariati Hospital (M.F., K.S.-F., R.M.), and Department of Medical Genetics (M.F.), Tehran University of Medical Sciences, Tehran, the Cardiovascular Research Center, Shiraz University of Medical Sciences, Shiraz (M.K., K.S.-F., M.A.B.B.), and Ardabil University of Medical Sciences, Ardabil (A.H., M.B.) - all in Iran.
Murim ChoiDepartment of Internal Medicine, Yale Cardiovascular Research Center (A.R.K., M.F., G.-W.G., R.S., S.F., J.H., A.M.), Yale Center for Mendelian Genomics (M.C., S.M., R.P.L., A.M.), Department of Genetics (K.K.K., R.P.L., A.M.), and Howard Hughes Medical Institute (R.P.L.), Yale University School of Medicine, New Haven, CT; the Digestive Disease Research Institute, Shariati Hospital (M.F., K.S.-F., R.M.), and Department of Medical Genetics (M.F.), Tehran University of Medical Sciences, Tehran, the Cardiovascular Research Center, Shiraz University of Medical Sciences, Shiraz (M.K., K.S.-F., M.A.B.B.), and Ardabil University of Medical Sciences, Ardabil (A.H., M.B.) - all in Iran.
Saeed FaramarziDepartment of Internal Medicine, Yale Cardiovascular Research Center (A.R.K., M.F., G.-W.G., R.S., S.F., J.H., A.M.), Yale Center for Mendelian Genomics (M.C., S.M., R.P.L., A.M.), Department of Genetics (K.K.K., R.P.L., A.M.), and Howard Hughes Medical Institute (R.P.L.), Yale University School of Medicine, New Haven, CT; the Digestive Disease Research Institute, Shariati Hospital (M.F., K.S.-F., R.M.), and Department of Medical Genetics (M.F.), Tehran University of Medical Sciences, Tehran, the Cardiovascular Research Center, Shiraz University of Medical Sciences, Shiraz (M.K., K.S.-F., M.A.B.B.), and Ardabil University of Medical Sciences, Ardabil (A.H., M.B.) - all in Iran.
Shrikant ManeDepartment of Internal Medicine, Yale Cardiovascular Research Center (A.R.K., M.F., G.-W.G., R.S., S.F., J.H., A.M.), Yale Center for Mendelian Genomics (M.C., S.M., R.P.L., A.M.), Department of Genetics (K.K.K., R.P.L., A.M.), and Howard Hughes Medical Institute (R.P.L.), Yale University School of Medicine, New Haven, CT; the Digestive Disease Research Institute, Shariati Hospital (M.F., K.S.-F., R.M.), and Department of Medical Genetics (M.F.), Tehran University of Medical Sciences, Tehran, the Cardiovascular Research Center, Shiraz University of Medical Sciences, Shiraz (M.K., K.S.-F., M.A.B.B.), and Ardabil University of Medical Sciences, Ardabil (A.H., M.B.) - all in Iran.
Mohammad KasaeiDepartment of Internal Medicine, Yale Cardiovascular Research Center (A.R.K., M.F., G.-W.G., R.S., S.F., J.H., A.M.), Yale Center for Mendelian Genomics (M.C., S.M., R.P.L., A.M.), Department of Genetics (K.K.K., R.P.L., A.M.), and Howard Hughes Medical Institute (R.P.L.), Yale University School of Medicine, New Haven, CT; the Digestive Disease Research Institute, Shariati Hospital (M.F., K.S.-F., R.M.), and Department of Medical Genetics (M.F.), Tehran University of Medical Sciences, Tehran, the Cardiovascular Research Center, Shiraz University of Medical Sciences, Shiraz (M.K., K.S.-F., M.A.B.B.), and Ardabil University of Medical Sciences, Ardabil (A.H., M.B.) - all in Iran.
Kazem Sarajzadeh-FardDepartment of Internal Medicine, Yale Cardiovascular Research Center (A.R.K., M.F., G.-W.G., R.S., S.F., J.H., A.M.), Yale Center for Mendelian Genomics (M.C., S.M., R.P.L., A.M.), Department of Genetics (K.K.K., R.P.L., A.M.), and Howard Hughes Medical Institute (R.P.L.), Yale University School of Medicine, New Haven, CT; the Digestive Disease Research Institute, Shariati Hospital (M.F., K.S.-F., R.M.), and Department of Medical Genetics (M.F.), Tehran University of Medical Sciences, Tehran, the Cardiovascular Research Center, Shiraz University of Medical Sciences, Shiraz (M.K., K.S.-F., M.A.B.B.), and Ardabil University of Medical Sciences, Ardabil (A.H., M.B.) - all in Iran.
John HwaDepartment of Internal Medicine, Yale Cardiovascular Research Center (A.R.K., M.F., G.-W.G., R.S., S.F., J.H., A.M.), Yale Center for Mendelian Genomics (M.C., S.M., R.P.L., A.M.), Department of Genetics (K.K.K., R.P.L., A.M.), and Howard Hughes Medical Institute (R.P.L.), Yale University School of Medicine, New Haven, CT; the Digestive Disease Research Institute, Shariati Hospital (M.F., K.S.-F., R.M.), and Department of Medical Genetics (M.F.), Tehran University of Medical Sciences, Tehran, the Cardiovascular Research Center, Shiraz University of Medical Sciences, Shiraz (M.K., K.S.-F., M.A.B.B.), and Ardabil University of Medical Sciences, Ardabil (A.H., M.B.) - all in Iran.
Kenneth K KiddDepartment of Internal Medicine, Yale Cardiovascular Research Center (A.R.K., M.F., G.-W.G., R.S., S.F., J.H., A.M.), Yale Center for Mendelian Genomics (M.C., S.M., R.P.L., A.M.), Department of Genetics (K.K.K., R.P.L., A.M.), and Howard Hughes Medical Institute (R.P.L.), Yale University School of Medicine, New Haven, CT; the Digestive Disease Research Institute, Shariati Hospital (M.F., K.S.-F., R.M.), and Department of Medical Genetics (M.F.), Tehran University of Medical Sciences, Tehran, the Cardiovascular Research Center, Shiraz University of Medical Sciences, Shiraz (M.K., K.S.-F., M.A.B.B.), and Ardabil University of Medical Sciences, Ardabil (A.H., M.B.) - all in Iran.
Mohammad A Babaee BigiDepartment of Internal Medicine, Yale Cardiovascular Research Center (A.R.K., M.F., G.-W.G., R.S., S.F., J.H., A.M.), Yale Center for Mendelian Genomics (M.C., S.M., R.P.L., A.M.), Department of Genetics (K.K.K., R.P.L., A.M.), and Howard Hughes Medical Institute (R.P.L.), Yale University School of Medicine, New Haven, CT; the Digestive Disease Research Institute, Shariati Hospital (M.F., K.S.-F., R.M.), and Department of Medical Genetics (M.F.), Tehran University of Medical Sciences, Tehran, the Cardiovascular Research Center, Shiraz University of Medical Sciences, Shiraz (M.K., K.S.-F., M.A.B.B.), and Ardabil University of Medical Sciences, Ardabil (A.H., M.B.) - all in Iran.
Reza MalekzadehDepartment of Internal Medicine, Yale Cardiovascular Research Center (A.R.K., M.F., G.-W.G., R.S., S.F., J.H., A.M.), Yale Center for Mendelian Genomics (M.C., S.M., R.P.L., A.M.), Department of Genetics (K.K.K., R.P.L., A.M.), and Howard Hughes Medical Institute (R.P.L.), Yale University School of Medicine, New Haven, CT; the Digestive Disease Research Institute, Shariati Hospital (M.F., K.S.-F., R.M.), and Department of Medical Genetics (M.F.), Tehran University of Medical Sciences, Tehran, the Cardiovascular Research Center, Shiraz University of Medical Sciences, Shiraz (M.K., K.S.-F., M.A.B.B.), and Ardabil University of Medical Sciences, Ardabil (A.H., M.B.) - all in Iran.
Adallat HosseinianDepartment of Internal Medicine, Yale Cardiovascular Research Center (A.R.K., M.F., G.-W.G., R.S., S.F., J.H., A.M.), Yale Center for Mendelian Genomics (M.C., S.M., R.P.L., A.M.), Department of Genetics (K.K.K., R.P.L., A.M.), and Howard Hughes Medical Institute (R.P.L.), Yale University School of Medicine, New Haven, CT; the Digestive Disease Research Institute, Shariati Hospital (M.F., K.S.-F., R.M.), and Department of Medical Genetics (M.F.), Tehran University of Medical Sciences, Tehran, the Cardiovascular Research Center, Shiraz University of Medical Sciences, Shiraz (M.K., K.S.-F., M.A.B.B.), and Ardabil University of Medical Sciences, Ardabil (A.H., M.B.) - all in Iran.
Masoud BabaeiDepartment of Internal Medicine, Yale Cardiovascular Research Center (A.R.K., M.F., G.-W.G., R.S., S.F., J.H., A.M.), Yale Center for Mendelian Genomics (M.C., S.M., R.P.L., A.M.), Department of Genetics (K.K.K., R.P.L., A.M.), and Howard Hughes Medical Institute (R.P.L.), Yale University School of Medicine, New Haven, CT; the Digestive Disease Research Institute, Shariati Hospital (M.F., K.S.-F., R.M.), and Department of Medical Genetics (M.F.), Tehran University of Medical Sciences, Tehran, the Cardiovascular Research Center, Shiraz University of Medical Sciences, Shiraz (M.K., K.S.-F., M.A.B.B.), and Ardabil University of Medical Sciences, Ardabil (A.H., M.B.) - all in Iran.
Richard P LiftonDepartment of Internal Medicine, Yale Cardiovascular Research Center (A.R.K., M.F., G.-W.G., R.S., S.F., J.H., A.M.), Yale Center for Mendelian Genomics (M.C., S.M., R.P.L., A.M.), Department of Genetics (K.K.K., R.P.L., A.M.), and Howard Hughes Medical Institute (R.P.L.), Yale University School of Medicine, New Haven, CT; the Digestive Disease Research Institute, Shariati Hospital (M.F., K.S.-F., R.M.), and Department of Medical Genetics (M.F.), Tehran University of Medical Sciences, Tehran, the Cardiovascular Research Center, Shiraz University of Medical Sciences, Shiraz (M.K., K.S.-F., M.A.B.B.), and Ardabil University of Medical Sciences, Ardabil (A.H., M.B.) - all in Iran.
Arya ManiDepartment of Internal Medicine, Yale Cardiovascular Research Center (A.R.K., M.F., G.-W.G., R.S., S.F., J.H., A.M.), Yale Center for Mendelian Genomics (M.C., S.M., R.P.L., A.M.), Department of Genetics (K.K.K., R.P.L., A.M.), and Howard Hughes Medical Institute (R.P.L.), Yale University School of Medicine, New Haven, CT; the Digestive Disease Research Institute, Shariati Hospital (M.F., K.S.-F., R.M.), and Department of Medical Genetics (M.F.), Tehran University of Medical Sciences, Tehran, the Cardiovascular Research Center, Shiraz University of Medical Sciences, Shiraz (M.K., K.S.-F., M.A.B.B.), and Ardabil University of Medical Sciences, Ardabil (A.H., M.B.) - all in Iran.
Yale University · USArdabil University of Medical Sciences · IRShariati Hospital · IRCardiovascular Research Center · BRHoward Hughes Medical Institute · USShiraz University of Medical Sciences · IR
Funding
Yale Pathology Tissue Services Shared ResourceP30CA016359 · NCI · YALE UNIVERSITY · PI DAVID L RIMM · 1985 to 2026
$85.0MYale University Clinical and Translational Science Award ProgramUL1TR000142 · NCATS · YALE UNIVERSITY · PI SHERWIN, ROBERT S · 2012 to 2015
$31.8MRenal Physiology and Phenotyping CoreP30DK079310 · NIDDK · YALE UNIVERSITY · PI ARONSON, PETER S. · 2008 to 2022
$16.8MYale Center for Mendelian DisordersU54HG006504 · NHGRI · YALE UNIVERSITY · PI GERSTEIN, MARK BENDER, GUNEL, MURAT · 2012 to 2015
$11.0MHyperglycemia, thromboxane and platelet activity in diabetes mellitusR01HL115247 · NHLBI · YALE UNIVERSITY · PI HWA, JOHN · 2012 to 2019
$3.8MInvestigation of genetic and physiological causes of inherited Vascular and MetabR01HL094784 · NHLBI · YALE UNIVERSITY · PI MANI, ARYA · 2009 to 2013
$2.0MThe genetics and pathophysiology of impaired Wnt signaling in metabolic syndromeR01HL094574 · NHLBI · YALE UNIVERSITY · PI MANI, ARYA · 2009 to 2012
$1.7MGenetic Regulation of Arterial Wall by Canonical Wnt SignalingR01HL122830 · NHLBI · YALE UNIVERSITY · PI MANI, ARYA · 2014 to 2016
$1.6MHoward Hughes Medical InstituteNCATS NIH HHS UL1 TR000142NHGRI NIH HHS 5U54HG006504NHGRI NIH HHS U54 HG006504NHLBI NIH HHS R01 HL094574NHLBI NIH HHS R01HL094574-03NHLBI NIH HHS R01 HL094784NHLBI NIH HHS R01HL094784-01NHLBI NIH HHS R01 HL115247NHLBI NIH HHS R01 HL122830NIDDK NIH HHS P30 DK079310
Abstract
backgroundGenetic analysis has been successful in identifying causative mutations for individual cardiovascular risk factors. Success has been more limited in mapping susceptibility genes for clusters of cardiovascular risk traits, such as those in the metabolic syndrome.
methodsWe identified three large families with coinheritance of early-onset coronary artery disease, central obesity, hypertension, and diabetes. We used linkage analysis and whole-exome sequencing to identify the disease-causing gene.
resultsA founder mutation was identified in DYRK1B, substituting cysteine for arginine at position 102 in the highly conserved kinase-like domain. The mutation precisely cosegregated with the clinical syndrome in all the affected family members and was absent in unaffected family members and unrelated controls. Functional characterization of the disease gene revealed that nonmutant protein encoded by DYRK1B inhibits the SHH (sonic hedgehog) and Wnt signaling pathways and consequently enhances adipogenesis. Furthermore, DYRK1B promoted the expression of the key gluconeogenic enzyme glucose-6-phosphatase. The R102C allele showed gain-of-function activities by potentiating these effects. A second mutation, substituting proline for histidine 90, was found to cosegregate with a similar clinical syndrome in an ethnically distinct family.
conclusionsThese findings indicate a role for DYRK1B in adipogenesis and glucose homeostasis and associate its altered function with an inherited form of the metabolic syndrome. (Funded by the National Institutes of Health.).
Indexed as
Genetic Predisposition to DiseaseMutationCoronary Artery DiseaseDiabetes Mellitus, Type 2Dyrk KinasesExomeFemaleFounder EffectGenetic LinkageGlucose-6-PhosphataseHumansHypertensionMaleMetabolic SyndromeObesity, AbdominalPedigreeDyrk KinasesGlucose-6-PhosphataseProtein Serine-Threonine KinasesProtein-Tyrosine Kinases
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.