Evidence map›Paper›PMID 33150777›Full record

ArticleChronic obstructive pulmonary diseases (Miami, Fla.)2021

The Clinical Utility of Determining the Allelic Background of Mutations Causing Alpha-1 Antitrypsin Deficiency: The Case with the Null Variant Q0(Mattawa)/Q0(Ourém).

Judith Bellemare, Nathalie Gaudreault, Kim Valette, Irene Belmonte, Alexa Nuñez, Marc Miravitlles, François Maltais, Yohan Bossé

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

Article in Chronic obstructive pulmonary diseases (Miami, Fla.), 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.1field-weighted citation impact, top 60% 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

1 citing paper in PubMed, 2 citations in OpenAlex.

  1. Review
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

8 authors at 3 institutions in 2 countries.

Judith BellemareInstitut universitaire de cardiologie et de pneumologie de Québec - Université Laval, Québec, QC, Canada.
Nathalie GaudreaultInstitut universitaire de cardiologie et de pneumologie de Québec - Université Laval, Québec, QC, Canada.
Kim ValetteInstitut universitaire de cardiologie et de pneumologie de Québec - Université Laval, Québec, QC, Canada.
Irene BelmontePneumology Department, Hospital Universitari Vall d´Hebron, Vall d´Hebron Institut de Recerca (VHIR), Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.
Alexa NuñezPneumology Department, Hospital Universitari Vall d´Hebron, Vall d´Hebron Institut de Recerca (VHIR), Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.
Marc MiravitllesPneumology Department, Hospital Universitari Vall d´Hebron, Vall d´Hebron Institut de Recerca (VHIR), Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.
François MaltaisInstitut universitaire de cardiologie et de pneumologie de Québec - Université Laval, Québec, QC, Canada.
Yohan BosséInstitut universitaire de cardiologie et de pneumologie de Québec - Université Laval, Québec, QC, Canada.
Université Laval · CAInstitut Universitaire de Cardiologie et de Pneumologie de Québec · CACentro de Investigación Biomédica en Red de Enfermedades Respiratorias · ES

Funding

CIHR MOP - 123369Grifolsla Fondation JD Bégin de l'Université Lavalthe Fondation de l'Institut universitaire de cardiologie et de pneumologie de Québec
6 · The paper itself

Abstract

backgroundAlpha-1 antitrypsin deficiency (AATD) is caused by genetic variants in the

methodsWe studied 7 carriers of a rare variant, Leu353Phe_fsTer24, known to lead to undetectable serum levels of AAT. Two of them were also carriers of the S or Z allele. We developed an allele-specific DNA sequencing method to characterize the allelic background of the Leu353Phe_fsTer24 variant.

resultsThe Leu353Phe_fsTer24 variant was transmitted on the same allele as the M3 variant (E376D) in all patients. This mutation is thus named Q0

conclusionFor the 7 patients, Leu353Phe_fsTer24 is transmitted on the M3 background and they are, thus, carriers of the Q0

Indexed as

allele-specific DNA sequencingAlpha-1 antitrypsin deficiencynull variantsQ0(ourém)

Identifiers

PMID33150777
PMCPMC8047621
OpenAlexW3097391381

What OpenQuestion holds

Textmetadata
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.