Evidence map›Paper›PMID 29343526›Full record

ArticleCirculation research2018

Mutations in

Maarten P van den Berg, Rowida Almomani, Italo Biaggioni, Martijn van Faassen, Pim van der Harst, Herman H W Silljé, Irene Mateo Leach, Marc H Hemmelder, Gerjan Navis, Gert Jan Luijckx and 8 more

Open access · bronzeAbstract readCase Reports
In one paragraph

Article in Circulation research, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.

0numbers the graph read from it
0cells of the map it votes in
19citing papers in PubMed
1.4field-weighted citation impact, top 22% of its field
1 · What the graph read from it

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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

19 citing papers in PubMed, 28 citations in OpenAlex.

  1. Trial
  2. Review
  3. Electron currents mediated by tonoplast cytochromes b561.European biophysics journal : EBJ · 2026
    Review
  4. Peripheral catecholamine systems: an evolutionary perspective.American journal of physiology. Regulatory, integrative and comparative physiology · 2025
    Review
  5. Cecytb-2, a CytochromeBiomolecules · 2025
    Article
  6. Article
  7. Review
  8. Article
  9. Article
  10. Article
  11. Early-onset hereditary isolated non-neurogenic orthostatic hypotension in a Swedish family.Clinical autonomic research : official journal of the Clinical Autonomic Research Society · 2023
    Article
  12. Expression and clinical prognostic value of CYB561 in breast cancer.Journal of cancer research and clinical oncology · 2022
    Article
  13. Article
  14. Review
  15. Article
  16. Review
  17. Article
  18. Article
  19. A novel autosomal recessive orthostatic hypotension syndrome: and other updates on recent autonomic research.Clinical autonomic research : official journal of the Clinical Autonomic Research Society · 2018
    Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

18 authors at 4 institutions in 3 countries.

Maarten P van den BergFrom the Department of Cardiology (M.P.v.d.B., P.v.d.H., H.H.W.S., I.M.L.), Laboratory Medicine (M.v.F., I.P.K.), Department of Nephrology (G.N.), Department of Neurology (G.J.L.), and Department of Genetics (P.A.v.d.Z., J.D.H.J.), University Medical Center Groningen, University of Groningen, The Netherlands; Department of Medical Laboratory Sciences, Faculty of Applied Medical Sciences, Jordan University of Science and Technology, Irbid (R.A.); Division of Clinical Pharmacology, Vanderbilt University, Medical Center, Nashville, TN (I.B.); Department of Internal Medicine, Medical Center Leeuwarden, The Netherlands (M.H.H.); Department of Genetics (A.P.M.d.B.), Centre for Molecular and Biomolecular Informatics (H.V.), and Translational Metabolic Laboratory, Department of Laboratory Medicine (M.M.V., R.A.W.), Radboud University Medical Center Nijmegen, The Netherlands; and Department of Genetics, Academic Medical Center, University of Amsterdam, The Netherlands (J.P.v.T.). m.p.van.den.berg@umcg.nl.
Rowida AlmomaniFrom the Department of Cardiology (M.P.v.d.B., P.v.d.H., H.H.W.S., I.M.L.), Laboratory Medicine (M.v.F., I.P.K.), Department of Nephrology (G.N.), Department of Neurology (G.J.L.), and Department of Genetics (P.A.v.d.Z., J.D.H.J.), University Medical Center Groningen, University of Groningen, The Netherlands; Department of Medical Laboratory Sciences, Faculty of Applied Medical Sciences, Jordan University of Science and Technology, Irbid (R.A.); Division of Clinical Pharmacology, Vanderbilt University, Medical Center, Nashville, TN (I.B.); Department of Internal Medicine, Medical Center Leeuwarden, The Netherlands (M.H.H.); Department of Genetics (A.P.M.d.B.), Centre for Molecular and Biomolecular Informatics (H.V.), and Translational Metabolic Laboratory, Department of Laboratory Medicine (M.M.V., R.A.W.), Radboud University Medical Center Nijmegen, The Netherlands; and Department of Genetics, Academic Medical Center, University of Amsterdam, The Netherlands (J.P.v.T.).
Italo BiaggioniFrom the Department of Cardiology (M.P.v.d.B., P.v.d.H., H.H.W.S., I.M.L.), Laboratory Medicine (M.v.F., I.P.K.), Department of Nephrology (G.N.), Department of Neurology (G.J.L.), and Department of Genetics (P.A.v.d.Z., J.D.H.J.), University Medical Center Groningen, University of Groningen, The Netherlands; Department of Medical Laboratory Sciences, Faculty of Applied Medical Sciences, Jordan University of Science and Technology, Irbid (R.A.); Division of Clinical Pharmacology, Vanderbilt University, Medical Center, Nashville, TN (I.B.); Department of Internal Medicine, Medical Center Leeuwarden, The Netherlands (M.H.H.); Department of Genetics (A.P.M.d.B.), Centre for Molecular and Biomolecular Informatics (H.V.), and Translational Metabolic Laboratory, Department of Laboratory Medicine (M.M.V., R.A.W.), Radboud University Medical Center Nijmegen, The Netherlands; and Department of Genetics, Academic Medical Center, University of Amsterdam, The Netherlands (J.P.v.T.).
Martijn van FaassenFrom the Department of Cardiology (M.P.v.d.B., P.v.d.H., H.H.W.S., I.M.L.), Laboratory Medicine (M.v.F., I.P.K.), Department of Nephrology (G.N.), Department of Neurology (G.J.L.), and Department of Genetics (P.A.v.d.Z., J.D.H.J.), University Medical Center Groningen, University of Groningen, The Netherlands; Department of Medical Laboratory Sciences, Faculty of Applied Medical Sciences, Jordan University of Science and Technology, Irbid (R.A.); Division of Clinical Pharmacology, Vanderbilt University, Medical Center, Nashville, TN (I.B.); Department of Internal Medicine, Medical Center Leeuwarden, The Netherlands (M.H.H.); Department of Genetics (A.P.M.d.B.), Centre for Molecular and Biomolecular Informatics (H.V.), and Translational Metabolic Laboratory, Department of Laboratory Medicine (M.M.V., R.A.W.), Radboud University Medical Center Nijmegen, The Netherlands; and Department of Genetics, Academic Medical Center, University of Amsterdam, The Netherlands (J.P.v.T.).
Pim van der HarstFrom the Department of Cardiology (M.P.v.d.B., P.v.d.H., H.H.W.S., I.M.L.), Laboratory Medicine (M.v.F., I.P.K.), Department of Nephrology (G.N.), Department of Neurology (G.J.L.), and Department of Genetics (P.A.v.d.Z., J.D.H.J.), University Medical Center Groningen, University of Groningen, The Netherlands; Department of Medical Laboratory Sciences, Faculty of Applied Medical Sciences, Jordan University of Science and Technology, Irbid (R.A.); Division of Clinical Pharmacology, Vanderbilt University, Medical Center, Nashville, TN (I.B.); Department of Internal Medicine, Medical Center Leeuwarden, The Netherlands (M.H.H.); Department of Genetics (A.P.M.d.B.), Centre for Molecular and Biomolecular Informatics (H.V.), and Translational Metabolic Laboratory, Department of Laboratory Medicine (M.M.V., R.A.W.), Radboud University Medical Center Nijmegen, The Netherlands; and Department of Genetics, Academic Medical Center, University of Amsterdam, The Netherlands (J.P.v.T.).
Herman H W SilljéFrom the Department of Cardiology (M.P.v.d.B., P.v.d.H., H.H.W.S., I.M.L.), Laboratory Medicine (M.v.F., I.P.K.), Department of Nephrology (G.N.), Department of Neurology (G.J.L.), and Department of Genetics (P.A.v.d.Z., J.D.H.J.), University Medical Center Groningen, University of Groningen, The Netherlands; Department of Medical Laboratory Sciences, Faculty of Applied Medical Sciences, Jordan University of Science and Technology, Irbid (R.A.); Division of Clinical Pharmacology, Vanderbilt University, Medical Center, Nashville, TN (I.B.); Department of Internal Medicine, Medical Center Leeuwarden, The Netherlands (M.H.H.); Department of Genetics (A.P.M.d.B.), Centre for Molecular and Biomolecular Informatics (H.V.), and Translational Metabolic Laboratory, Department of Laboratory Medicine (M.M.V., R.A.W.), Radboud University Medical Center Nijmegen, The Netherlands; and Department of Genetics, Academic Medical Center, University of Amsterdam, The Netherlands (J.P.v.T.).
Irene Mateo LeachFrom the Department of Cardiology (M.P.v.d.B., P.v.d.H., H.H.W.S., I.M.L.), Laboratory Medicine (M.v.F., I.P.K.), Department of Nephrology (G.N.), Department of Neurology (G.J.L.), and Department of Genetics (P.A.v.d.Z., J.D.H.J.), University Medical Center Groningen, University of Groningen, The Netherlands; Department of Medical Laboratory Sciences, Faculty of Applied Medical Sciences, Jordan University of Science and Technology, Irbid (R.A.); Division of Clinical Pharmacology, Vanderbilt University, Medical Center, Nashville, TN (I.B.); Department of Internal Medicine, Medical Center Leeuwarden, The Netherlands (M.H.H.); Department of Genetics (A.P.M.d.B.), Centre for Molecular and Biomolecular Informatics (H.V.), and Translational Metabolic Laboratory, Department of Laboratory Medicine (M.M.V., R.A.W.), Radboud University Medical Center Nijmegen, The Netherlands; and Department of Genetics, Academic Medical Center, University of Amsterdam, The Netherlands (J.P.v.T.).
Marc H HemmelderFrom the Department of Cardiology (M.P.v.d.B., P.v.d.H., H.H.W.S., I.M.L.), Laboratory Medicine (M.v.F., I.P.K.), Department of Nephrology (G.N.), Department of Neurology (G.J.L.), and Department of Genetics (P.A.v.d.Z., J.D.H.J.), University Medical Center Groningen, University of Groningen, The Netherlands; Department of Medical Laboratory Sciences, Faculty of Applied Medical Sciences, Jordan University of Science and Technology, Irbid (R.A.); Division of Clinical Pharmacology, Vanderbilt University, Medical Center, Nashville, TN (I.B.); Department of Internal Medicine, Medical Center Leeuwarden, The Netherlands (M.H.H.); Department of Genetics (A.P.M.d.B.), Centre for Molecular and Biomolecular Informatics (H.V.), and Translational Metabolic Laboratory, Department of Laboratory Medicine (M.M.V., R.A.W.), Radboud University Medical Center Nijmegen, The Netherlands; and Department of Genetics, Academic Medical Center, University of Amsterdam, The Netherlands (J.P.v.T.).
Gerjan NavisFrom the Department of Cardiology (M.P.v.d.B., P.v.d.H., H.H.W.S., I.M.L.), Laboratory Medicine (M.v.F., I.P.K.), Department of Nephrology (G.N.), Department of Neurology (G.J.L.), and Department of Genetics (P.A.v.d.Z., J.D.H.J.), University Medical Center Groningen, University of Groningen, The Netherlands; Department of Medical Laboratory Sciences, Faculty of Applied Medical Sciences, Jordan University of Science and Technology, Irbid (R.A.); Division of Clinical Pharmacology, Vanderbilt University, Medical Center, Nashville, TN (I.B.); Department of Internal Medicine, Medical Center Leeuwarden, The Netherlands (M.H.H.); Department of Genetics (A.P.M.d.B.), Centre for Molecular and Biomolecular Informatics (H.V.), and Translational Metabolic Laboratory, Department of Laboratory Medicine (M.M.V., R.A.W.), Radboud University Medical Center Nijmegen, The Netherlands; and Department of Genetics, Academic Medical Center, University of Amsterdam, The Netherlands (J.P.v.T.).
Gert Jan LuijckxFrom the Department of Cardiology (M.P.v.d.B., P.v.d.H., H.H.W.S., I.M.L.), Laboratory Medicine (M.v.F., I.P.K.), Department of Nephrology (G.N.), Department of Neurology (G.J.L.), and Department of Genetics (P.A.v.d.Z., J.D.H.J.), University Medical Center Groningen, University of Groningen, The Netherlands; Department of Medical Laboratory Sciences, Faculty of Applied Medical Sciences, Jordan University of Science and Technology, Irbid (R.A.); Division of Clinical Pharmacology, Vanderbilt University, Medical Center, Nashville, TN (I.B.); Department of Internal Medicine, Medical Center Leeuwarden, The Netherlands (M.H.H.); Department of Genetics (A.P.M.d.B.), Centre for Molecular and Biomolecular Informatics (H.V.), and Translational Metabolic Laboratory, Department of Laboratory Medicine (M.M.V., R.A.W.), Radboud University Medical Center Nijmegen, The Netherlands; and Department of Genetics, Academic Medical Center, University of Amsterdam, The Netherlands (J.P.v.T.).
Arjan P M de BrouwerFrom the Department of Cardiology (M.P.v.d.B., P.v.d.H., H.H.W.S., I.M.L.), Laboratory Medicine (M.v.F., I.P.K.), Department of Nephrology (G.N.), Department of Neurology (G.J.L.), and Department of Genetics (P.A.v.d.Z., J.D.H.J.), University Medical Center Groningen, University of Groningen, The Netherlands; Department of Medical Laboratory Sciences, Faculty of Applied Medical Sciences, Jordan University of Science and Technology, Irbid (R.A.); Division of Clinical Pharmacology, Vanderbilt University, Medical Center, Nashville, TN (I.B.); Department of Internal Medicine, Medical Center Leeuwarden, The Netherlands (M.H.H.); Department of Genetics (A.P.M.d.B.), Centre for Molecular and Biomolecular Informatics (H.V.), and Translational Metabolic Laboratory, Department of Laboratory Medicine (M.M.V., R.A.W.), Radboud University Medical Center Nijmegen, The Netherlands; and Department of Genetics, Academic Medical Center, University of Amsterdam, The Netherlands (J.P.v.T.).
Hanka VenselaarFrom the Department of Cardiology (M.P.v.d.B., P.v.d.H., H.H.W.S., I.M.L.), Laboratory Medicine (M.v.F., I.P.K.), Department of Nephrology (G.N.), Department of Neurology (G.J.L.), and Department of Genetics (P.A.v.d.Z., J.D.H.J.), University Medical Center Groningen, University of Groningen, The Netherlands; Department of Medical Laboratory Sciences, Faculty of Applied Medical Sciences, Jordan University of Science and Technology, Irbid (R.A.); Division of Clinical Pharmacology, Vanderbilt University, Medical Center, Nashville, TN (I.B.); Department of Internal Medicine, Medical Center Leeuwarden, The Netherlands (M.H.H.); Department of Genetics (A.P.M.d.B.), Centre for Molecular and Biomolecular Informatics (H.V.), and Translational Metabolic Laboratory, Department of Laboratory Medicine (M.M.V., R.A.W.), Radboud University Medical Center Nijmegen, The Netherlands; and Department of Genetics, Academic Medical Center, University of Amsterdam, The Netherlands (J.P.v.T.).
Marcel M VerbeekFrom the Department of Cardiology (M.P.v.d.B., P.v.d.H., H.H.W.S., I.M.L.), Laboratory Medicine (M.v.F., I.P.K.), Department of Nephrology (G.N.), Department of Neurology (G.J.L.), and Department of Genetics (P.A.v.d.Z., J.D.H.J.), University Medical Center Groningen, University of Groningen, The Netherlands; Department of Medical Laboratory Sciences, Faculty of Applied Medical Sciences, Jordan University of Science and Technology, Irbid (R.A.); Division of Clinical Pharmacology, Vanderbilt University, Medical Center, Nashville, TN (I.B.); Department of Internal Medicine, Medical Center Leeuwarden, The Netherlands (M.H.H.); Department of Genetics (A.P.M.d.B.), Centre for Molecular and Biomolecular Informatics (H.V.), and Translational Metabolic Laboratory, Department of Laboratory Medicine (M.M.V., R.A.W.), Radboud University Medical Center Nijmegen, The Netherlands; and Department of Genetics, Academic Medical Center, University of Amsterdam, The Netherlands (J.P.v.T.).
Paul A van der ZwaagFrom the Department of Cardiology (M.P.v.d.B., P.v.d.H., H.H.W.S., I.M.L.), Laboratory Medicine (M.v.F., I.P.K.), Department of Nephrology (G.N.), Department of Neurology (G.J.L.), and Department of Genetics (P.A.v.d.Z., J.D.H.J.), University Medical Center Groningen, University of Groningen, The Netherlands; Department of Medical Laboratory Sciences, Faculty of Applied Medical Sciences, Jordan University of Science and Technology, Irbid (R.A.); Division of Clinical Pharmacology, Vanderbilt University, Medical Center, Nashville, TN (I.B.); Department of Internal Medicine, Medical Center Leeuwarden, The Netherlands (M.H.H.); Department of Genetics (A.P.M.d.B.), Centre for Molecular and Biomolecular Informatics (H.V.), and Translational Metabolic Laboratory, Department of Laboratory Medicine (M.M.V., R.A.W.), Radboud University Medical Center Nijmegen, The Netherlands; and Department of Genetics, Academic Medical Center, University of Amsterdam, The Netherlands (J.P.v.T.).
Jan D H JongbloedFrom the Department of Cardiology (M.P.v.d.B., P.v.d.H., H.H.W.S., I.M.L.), Laboratory Medicine (M.v.F., I.P.K.), Department of Nephrology (G.N.), Department of Neurology (G.J.L.), and Department of Genetics (P.A.v.d.Z., J.D.H.J.), University Medical Center Groningen, University of Groningen, The Netherlands; Department of Medical Laboratory Sciences, Faculty of Applied Medical Sciences, Jordan University of Science and Technology, Irbid (R.A.); Division of Clinical Pharmacology, Vanderbilt University, Medical Center, Nashville, TN (I.B.); Department of Internal Medicine, Medical Center Leeuwarden, The Netherlands (M.H.H.); Department of Genetics (A.P.M.d.B.), Centre for Molecular and Biomolecular Informatics (H.V.), and Translational Metabolic Laboratory, Department of Laboratory Medicine (M.M.V., R.A.W.), Radboud University Medical Center Nijmegen, The Netherlands; and Department of Genetics, Academic Medical Center, University of Amsterdam, The Netherlands (J.P.v.T.).
J Peter van TintelenFrom the Department of Cardiology (M.P.v.d.B., P.v.d.H., H.H.W.S., I.M.L.), Laboratory Medicine (M.v.F., I.P.K.), Department of Nephrology (G.N.), Department of Neurology (G.J.L.), and Department of Genetics (P.A.v.d.Z., J.D.H.J.), University Medical Center Groningen, University of Groningen, The Netherlands; Department of Medical Laboratory Sciences, Faculty of Applied Medical Sciences, Jordan University of Science and Technology, Irbid (R.A.); Division of Clinical Pharmacology, Vanderbilt University, Medical Center, Nashville, TN (I.B.); Department of Internal Medicine, Medical Center Leeuwarden, The Netherlands (M.H.H.); Department of Genetics (A.P.M.d.B.), Centre for Molecular and Biomolecular Informatics (H.V.), and Translational Metabolic Laboratory, Department of Laboratory Medicine (M.M.V., R.A.W.), Radboud University Medical Center Nijmegen, The Netherlands; and Department of Genetics, Academic Medical Center, University of Amsterdam, The Netherlands (J.P.v.T.).
Ron A WeversFrom the Department of Cardiology (M.P.v.d.B., P.v.d.H., H.H.W.S., I.M.L.), Laboratory Medicine (M.v.F., I.P.K.), Department of Nephrology (G.N.), Department of Neurology (G.J.L.), and Department of Genetics (P.A.v.d.Z., J.D.H.J.), University Medical Center Groningen, University of Groningen, The Netherlands; Department of Medical Laboratory Sciences, Faculty of Applied Medical Sciences, Jordan University of Science and Technology, Irbid (R.A.); Division of Clinical Pharmacology, Vanderbilt University, Medical Center, Nashville, TN (I.B.); Department of Internal Medicine, Medical Center Leeuwarden, The Netherlands (M.H.H.); Department of Genetics (A.P.M.d.B.), Centre for Molecular and Biomolecular Informatics (H.V.), and Translational Metabolic Laboratory, Department of Laboratory Medicine (M.M.V., R.A.W.), Radboud University Medical Center Nijmegen, The Netherlands; and Department of Genetics, Academic Medical Center, University of Amsterdam, The Netherlands (J.P.v.T.).
Ido P KemaFrom the Department of Cardiology (M.P.v.d.B., P.v.d.H., H.H.W.S., I.M.L.), Laboratory Medicine (M.v.F., I.P.K.), Department of Nephrology (G.N.), Department of Neurology (G.J.L.), and Department of Genetics (P.A.v.d.Z., J.D.H.J.), University Medical Center Groningen, University of Groningen, The Netherlands; Department of Medical Laboratory Sciences, Faculty of Applied Medical Sciences, Jordan University of Science and Technology, Irbid (R.A.); Division of Clinical Pharmacology, Vanderbilt University, Medical Center, Nashville, TN (I.B.); Department of Internal Medicine, Medical Center Leeuwarden, The Netherlands (M.H.H.); Department of Genetics (A.P.M.d.B.), Centre for Molecular and Biomolecular Informatics (H.V.), and Translational Metabolic Laboratory, Department of Laboratory Medicine (M.M.V., R.A.W.), Radboud University Medical Center Nijmegen, The Netherlands; and Department of Genetics, Academic Medical Center, University of Amsterdam, The Netherlands (J.P.v.T.).
Vanderbilt University Medical Center · USJordan University of Science and Technology · JORadboud University Medical Center · NLMedisch Centrum Leeuwarden · NL

Funding

VANDERBILT UNIVERSITY CTSA FOR PEDIATRIC RESEARCHUL1RR024975 · NCRR · VANDERBILT UNIVERSITY · PI BERNARD, GORDON RAPHAEL · 2007 to 2011
$45.7M
Structural genomics of norepinephrine transportersP01HL056693 · NHLBI · VANDERBILT UNIVERSITY MEDICAL CENTER · PI BIAGGIONI, ITALO · 1997 to 2016
$30.8M
Training CoreU54NS065736 · NINDS · VANDERBILT UNIVERSITY MEDICAL CENTER · PI BIAGGIONI, ITALO · 2009 to 2018
$11.6M
NCRR NIH HHS UL1 RR024975NHLBI NIH HHS P01 HL056693NINDS NIH HHS U54 NS065736
6 · The paper itself

Abstract

rationaleOrthostatic hypotension is a common clinical problem, but the underlying mechanisms have not been fully delineated.

objectiveWe describe 2 families, with 4 patients in total, experiencing severe life-threatening orthostatic hypotension because of a novel cause. METHODS AND

resultsAs in dopamine β-hydroxylase deficiency, concentrations of norepinephrine and epinephrine in the patients were low. Plasma dopamine β-hydroxylase activity, however, was normal, and the

conclusionsThis study is the first to implicate cytochrome b561 in disease by showing that pathogenic mutations in

Indexed as

Codon, NonsenseAdrenal GlandsAdultAnimalsAscorbic AcidBrainCatecholaminesCytochrome b GroupFemaleHumansHypotension, OrthostaticMiceMice, Inbred C57BLNorepinephrinePedigreeSecretory VesiclesAscorbic AcidCatecholaminesCodon, NonsenseCytochrome b GroupNorepinephrinecatecholaminesdopaminegeneticshypotension, orthostaticsympathetic nervous system

Identifiers

PMID29343526
PMCPMC5924476
OpenAlexW2782621318

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.