Evidence map›Paper›PMID 36798224›Full record

ArticlebioRxiv : the preprint server for biology2023

Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation.

Warren van Loggerenberg, Shahin Sowlati-Hashjin, Jochen Weile, Rayna Hamilton, Aditya Chawla, Marinella Gebbia, Nishka Kishore, Laure Frésard, Sami Mustajoki, Elena Pischik and 14 more

Open access · greenAbstract readPreprint
PubMed Full text at PMC Publisher
In one paragraph

Article in bioRxiv : the preprint server for biology, 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
–field-weighted citation impact
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, 4 citations in OpenAlex.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

24 authors at 11 institutions in 9 countries.

Warren van LoggerenbergDonnelly Centre, University of Toronto, Toronto, Ontario, Canada.
Shahin Sowlati-HashjinInstitute of Biomedical Engineering, University of Toronto, ON, Canada.
Jochen WeileDonnelly Centre, University of Toronto, Toronto, Ontario, Canada.
Rayna HamiltonAdvanced Academic Programs, Johns Hopkins University, Washington, DC, USA.
Aditya ChawlaDonnelly Centre, University of Toronto, Toronto, Ontario, Canada.
Marinella GebbiaDonnelly Centre, University of Toronto, Toronto, Ontario, Canada.
Nishka KishoreDonnelly Centre, University of Toronto, Toronto, Ontario, Canada.
Laure FrésardInvitae Corp, San Francisco, CA 94103, USA.
Sami MustajokiResearch Program in Molecular Medicine, Biomedicum-Helsinki, University of Helsinki.
Elena PischikResearch Program in Molecular Medicine, Biomedicum-Helsinki, University of Helsinki.
Elena Di PierroFondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Unit of Medicine and Metabolic Diseases, Milan, Italy.
Michela BarbaroPorphyria Centre Sweden, Centre for Inherited Metabolic Diseases, Karolinska Institutet, Karolinska University Hospital, Stockholm, Sweden.
Ylva FloderusPorphyria Centre Sweden, Centre for Inherited Metabolic Diseases, Karolinska Institutet, Karolinska University Hospital, Stockholm, Sweden.
Caroline SchmittCentre Français des Porphyries, Hôpital Louis Mourier, Assistance Publique-Hôpitaux de Paris, Colombes and Centre de Recherche sur l'Inflammation, UMR1149 INSERM, Université Paris Cité, Paris, France.
Laurent GouyaCentre Français des Porphyries, Hôpital Louis Mourier, Assistance Publique-Hôpitaux de Paris, Colombes and Centre de Recherche sur l'Inflammation, UMR1149 INSERM, Université Paris Cité, Paris, France.
Alexandre ColavinInvitae Corp, San Francisco, CA 94103, USA.
Robert NussbaumInvitae Corp, San Francisco, CA 94103, USA.
Edith C H FriesemaPorphyria Expertcenter Rotterdam, Center for Lysosomal and Metabolic Diseases, Department of Internal Medicine, Erasmus MC, University Medical Center Rotterdam, the Netherlands.
Raili KauppinenResearch Program in Molecular Medicine, Biomedicum-Helsinki, University of Helsinki.
Jordi To-FiguerasBiochemistry and Molecular Genetics Department, Hospital Clínic, IDIBAPS, University of Barcelona, Barcelona, Spain.
Aasne K AarsandNorwegian Porphyria Centre, Department of Medical Biochemistry and Pharmacology, Haukeland University Hospital, Bergen, Norway.
Robert J DesnickDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Michael GartonInstitute of Biomedical Engineering, University of Toronto, ON, Canada.
Frederick P RothDonnelly Centre, University of Toronto, Toronto, Ontario, Canada.
University of Toronto · CAInvitae (United States) · USUniversity of Helsinki · FIInserm · FRKarolinska University Hospital · SEConsorci Institut D'Investigacions Biomediques August Pi I Sunyer · ESErasmus MC · NLFondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico · ITHaukeland University Hospital · NOIcahn School of Medicine at Mount Sinai · USJohns Hopkins University · US

Funding

Technology to understand genetic variant effects in contextRM1HG010461 · NHGRI · UNIVERSITY OF WASHINGTON · PI Douglas M Fowler, Bruce Colston Trapnell · 2019 to 2026
$18.9M
Molecular phenotyping of ~100,000 coding variants across Mendelian disease genesUM1HG011989 · NHGRI · DANA-FARBER CANCER INST · PI Marc Vidal · 2021 to 2026
$9.9M
NHGRI NIH HHS RM1 HG010461NHGRI NIH HHS UM1 HG011989
6 · The paper itself

Abstract

Defects in hydroxymethylbilane synthase (HMBS) can cause Acute Intermittent Porphyria (AIP), an acute neurological disease. Although sequencing-based diagnosis can be definitive, ~⅓ of clinical HMBS variants are missense variants, and most clinically-reported HMBS missense variants are designated as "variants of uncertain significance" (VUS). Using saturation mutagenesis,

Identifiers

PMID36798224
PMCPMC9934555
OpenAlexW4319299094

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.