Evidence map›Paper›PMID 38230350›Full record

ArticleGenetics in medicine open2023

Biallelic variants in the calpain regulatory subunit

Alex V Postma, Christina K Rapp, Katrin Knoflach, Alexander E Volk, Johannes R Lemke, Maximilian Ackermann, Nicolas Regamey, Philipp Latzin, Lucas Celant, Samara M A Jansen and 10 more

Open access · diamondAbstract read
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Article in Genetics in medicine open, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
0.6field-weighted citation impact, top 33% 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

0 citing papers in PubMed, 3 citations in OpenAlex.

No citing paper in PubMed yet.

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

20 authors at 3 institutions in 5 countries.

Alex V PostmaDepartment of Medical Biology, Amsterdam University Medical Centre, Amsterdam, The Netherlands.
Christina K RappDepartment of Pediatrics, Dr. von Hauner Children's Hospital, LMU Klinikum, Ludwig Maximilians University of Munich, German Center for Lung Research (DZL), Munich, Germany.
Katrin KnoflachDepartment of Pediatrics, Dr. von Hauner Children's Hospital, LMU Klinikum, Ludwig Maximilians University of Munich, German Center for Lung Research (DZL), Munich, Germany.
Alexander E VolkInstitute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Johannes R LemkeInstitute of Human Genetics, Leipzig University Medical Center, Leipzig, Germany.
Maximilian AckermannInstitute of Functional and Clinical Anatomy, University Medical Centre, Johannes Gutenberg University Mainz, Mainz, Germany.
Nicolas RegameyDivision of Paediatric Pulmonology, Children's Hospital, Lucerne Cantonal Hospital, Lucerne, Switzerland.
Philipp LatzinDivision of Paediatric Respiratory Medicine and Allergology, Department of Pediatrics, Inselspital, University Hospital, University of Bern, Bern, Switzerland.
Lucas CelantDepartment of Pulmonary Medicine, Amsterdam University Medical Centre, Amsterdam, The Netherlands.
Samara M A JansenDepartment of Pulmonary Medicine, Amsterdam University Medical Centre, Amsterdam, The Netherlands.
Harm J BogaardDepartment of Pulmonary Medicine, Amsterdam University Medical Centre, Amsterdam, The Netherlands.
Aho IlgunDepartment of Human Genetics, Amsterdam University Medical Centre, Amsterdam, The Netherlands.
Mariëlle AldersDepartment of Human Genetics, Amsterdam University Medical Centre, Amsterdam, The Netherlands.
Karin Y van Spaendonck-ZwartsDepartment of Human Genetics, Amsterdam University Medical Centre, Amsterdam, The Netherlands.
Danny JonigkInstitute of Pathology, Medizinische Hochschule Hannover, Hanover, Germany.
Christoph KleinDepartment of Pediatrics, Dr. von Hauner Children's Hospital, LMU Klinikum, Ludwig Maximilians University of Munich, German Center for Lung Research (DZL), Munich, Germany.
Stefan GräfDepartment of Medicine, University of Cambridge, Heart and Lung Research Institute, Cambridge, United Kingdom.
Christian KubischInstitute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Arjan C HouwelingDepartment of Human Genetics, Amsterdam University Medical Centre, Amsterdam, The Netherlands.
Matthias GrieseDepartment of Pediatrics, Dr. von Hauner Children's Hospital, LMU Klinikum, Ludwig Maximilians University of Munich, German Center for Lung Research (DZL), Munich, Germany.
Munich University of Applied Sciences · DEUniversität Hamburg · DEUniversity of Lucerne · CH

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Purpose: The aim of this study was to identify the monogenic cause of pulmonary arterial hypertension (PAH), a multifactorial and often fatal disease, in 2 unrelated consanguine families. Methods: We performed exome sequencing and validated variant pathogenicity by whole-blood RNA and protein expression analysis in both families. Further RNA sequencing of preserved lung tissue was performed to investigate the consequences on selected genes that are involved in angiogenesis, proliferation, and apoptosis. Results: We identified 2 rare biallelic variants in Conclusion: The calpain holoenzyme was previously linked to pulmonary vascular development and progression of PAH in patients. We demonstrated that biallelic LoF variants in

Indexed as

AngiogenesisCalpainCAPNS1Pulmonary arterial hypertension

Identifiers

PMID38230350
PMCPMC10790724
OpenAlexW4366779322

What OpenQuestion holds

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LicenceCC BY-NC-ND
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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.