Evidence map›Paper›PMID 30715372›Full record

ArticleHuman molecular genetics2019

Cardiomyopathy with lethal arrhythmias associated with inactivation of KLHL24.

Carola Hedberg-Oldfors, Alexandra Abramsson, Daniel P S Osborn, Olof Danielsson, Afsoon Fazlinezhad, Yalda Nilipour, Laila Hübbert, Inger Nennesmo, Kittichate Visuttijai, Jaipreet Bharj and 14 more

Open access · bronzeAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Human molecular genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 37 papers.

0numbers the graph read from it
0cells of the map it votes in
37citing papers in PubMed
4.3field-weighted citation impact, top 5% 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

37 citing papers in PubMed, 55 citations in OpenAlex.

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  15. Clinical Outcome inCirculation. Genomic and precision medicine · 2023
    Article
  16. Review
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  19. Review
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

24 authors at 10 institutions in 4 countries.

Carola Hedberg-OldforsDepartment of Pathology and Genetics, Institute of Biomedicine, University of Gothenburg, Gothenburg, Sweden.
Alexandra AbramssonDepartment of Psychiatry and Neurochemistry, Institute of Neuroscience and Physiology, University of Gothenburg, Gothenburg, Sweden.
Daniel P S OsbornGenetics Research Centre, Molecular and Clinical Sciences Institute, St George's University of London, Cranmer Terrace, London, UK.
Olof DanielssonDepartment of Neurology, and Department of Clinical and Experimental Medicine, Linköping University, Linköping, Sweden.
Afsoon FazlinezhadRazavi Cancer Research Center, Razavi Hospital, Imam Reza International University, Mashhad, Iran.
Yalda NilipourPediatric Pathology Research Center, Research Institute for Children Health, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Laila HübbertDepartment of Medical and Health Sciences, Linköping University, Linköping, Sweden.
Inger NennesmoDepartment of Pathology, Karolinska University Hospital, Stockholm, Sweden.
Kittichate VisuttijaiDepartment of Pathology and Genetics, Institute of Biomedicine, University of Gothenburg, Gothenburg, Sweden.
Jaipreet BharjGenetics Research Centre, Molecular and Clinical Sciences Institute, St George's University of London, Cranmer Terrace, London, UK.
Evmorfia PetropoulouGenetics Research Centre, Molecular and Clinical Sciences Institute, St George's University of London, Cranmer Terrace, London, UK.
Azza ShoreimGenetics Research Centre, Molecular and Clinical Sciences Institute, St George's University of London, Cranmer Terrace, London, UK.
Barbara VonaInstitute of Human Genetics, Julius Maximilians University of Würzburg, Würzburg, Germany.
Najmeh AhangariDepartment of Modern Sciences and Technologies, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
Marcela Dávila LópezBioinformatics Core Facilities, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.
Mohammad DoostiNext Generation Genetic Polyclinic, Mashhad, Iran.
Rakesh Kumar BanoteDepartment of Psychiatry and Neurochemistry, Institute of Neuroscience and Physiology, University of Gothenburg, Gothenburg, Sweden.
Reza MaroofianGenetics Research Centre, Molecular and Clinical Sciences Institute, St George's University of London, Cranmer Terrace, London, UK.
Malin EdlingDepartment of Psychiatry and Neurochemistry, Institute of Neuroscience and Physiology, University of Gothenburg, Gothenburg, Sweden.
Mehdi TaherpourRazavi Cancer Research Center, Razavi Hospital, Imam Reza International University, Mashhad, Iran.
Henrik ZetterbergDepartment of Psychiatry and Neurochemistry, Institute of Neuroscience and Physiology, University of Gothenburg, Gothenburg, Sweden.
Ehsan Ghayoor KarimianiRazavi Cancer Research Center, Razavi Hospital, Imam Reza International University, Mashhad, Iran.
Anders OldforsDepartment of Pathology and Genetics, Institute of Biomedicine, University of Gothenburg, Gothenburg, Sweden.
Yalda JamshidiGenetics Research Centre, Molecular and Clinical Sciences Institute, St George's University of London, Cranmer Terrace, London, UK.
University of Gothenburg · SESt George's, University of London · GBImam Reza International University · IRLinköping University · SEIslamic Azad University, Mashhad · IRKarolinska University Hospital · SEMashhad University of Medical Sciences · IRSahlgrenska University Hospital · SEShahid Beheshti University of Medical Sciences · IRUniversity of Würzburg · DE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiovascular disorder, yet the genetic cause of up to 50% of cases remains unknown. Here, we show that mutations in KLHL24 cause HCM in humans. Using genome-wide linkage analysis and exome sequencing, we identified homozygous mutations in KLHL24 in two consanguineous families with HCM. Of the 11 young affected adults identified, 3 died suddenly and 1 had a cardiac transplant due to heart failure. KLHL24 is a member of the Kelch-like protein family, which acts as substrate-specific adaptors to Cullin E3 ubiquitin ligases. Endomyocardial and skeletal muscle biopsies from affected individuals of both families demonstrated characteristic alterations, including accumulation of desmin intermediate filaments. Knock-down of the zebrafish homologue klhl24a results in heart defects similar to that described for other HCM-linked genes providing additional support for KLHL24 as a HCM-associated gene. Our findings reveal a crucial role for KLHL24 in cardiac development and function.

Indexed as

AdultAnimalsArrhythmias, CardiacCardiomyopathy, HypertrophicDeath, Sudden, CardiacDesminDisease Models, AnimalFemaleGenetic LinkageHeart FailureHomozygoteHumansMaleMutationPedigreePhenotypeDesminKLHL24 protein, humanRepressor Proteins

Identifiers

PMID30715372
PMCPMC6812045
OpenAlexW2914986942

What OpenQuestion holds

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Registered trials

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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.