Evidence map›Paper›PMID 32992607›Full record

ArticleGenes2020

Clinical Presentation of the c.3844T>C (p.Trp1282Arg, W1282R) Variant in Russian Cystic Fibrosis Patients.

Nika V Petrova, Nataliya Y Kashirskaya, Stanislav A Krasovskiy, Elena L Amelina, Elena I Kondratyeva, Andrey V Marakhonov, Tatyana A Vasilyeva, Anna Y Voronkova, Victoria D Sherman, Evgeny K Ginter and 2 more

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

Article in Genes, 2020. 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
0.4field-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

1 citing paper in PubMed, 3 citations in OpenAlex.

  1. Article
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

12 authors at 1 institution in 1 country.

Nika V PetrovaResearch Centre for Medical Genetics, Russian Federation, Moskvorechie St., 1, 115522 Moscow, Russia.
Nataliya Y KashirskayaResearch Centre for Medical Genetics, Russian Federation, Moskvorechie St., 1, 115522 Moscow, Russia.ORCID 0000-0003-0503-6371
Stanislav A KrasovskiyResearch Centre for Medical Genetics, Russian Federation, Moskvorechie St., 1, 115522 Moscow, Russia.
Elena L AmelinaPulmonology Research Institute under FMBA of Russia, Orekhoviy boulevard, 28, 115682 Moscow, Russia.
Elena I KondratyevaResearch Centre for Medical Genetics, Russian Federation, Moskvorechie St., 1, 115522 Moscow, Russia.ORCID 0000-0001-6395-0407
Andrey V MarakhonovResearch Centre for Medical Genetics, Russian Federation, Moskvorechie St., 1, 115522 Moscow, Russia.ORCID 0000-0002-0972-5118
Tatyana A VasilyevaResearch Centre for Medical Genetics, Russian Federation, Moskvorechie St., 1, 115522 Moscow, Russia.
Anna Y VoronkovaResearch Centre for Medical Genetics, Russian Federation, Moskvorechie St., 1, 115522 Moscow, Russia.
Victoria D ShermanResearch Centre for Medical Genetics, Russian Federation, Moskvorechie St., 1, 115522 Moscow, Russia.ORCID 0000-0003-2206-1528
Evgeny K GinterResearch Centre for Medical Genetics, Russian Federation, Moskvorechie St., 1, 115522 Moscow, Russia.
Sergey I KutsevResearch Centre for Medical Genetics, Russian Federation, Moskvorechie St., 1, 115522 Moscow, Russia.
Rena A ZinchenkoResearch Centre for Medical Genetics, Russian Federation, Moskvorechie St., 1, 115522 Moscow, Russia.ORCID 0000-0003-3586-3458
Research Centre for Medical Genetics · RU

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The goal was to study the phenotypic manifestations of c.3844T>C (p.Trp1282Arg, W1282R) variant, a CF-causing mutation, in patients from the Russian Federation. Clinical manifestations and complications (the age at CF diagnosis, sweat test, pancreatic status, lung function, microbial infection, body mass index (BMI), the presence of meconium ileus (MI), diabetes, and severe liver disease) were compared in four groups: group 1-patients carrying c.3844T>C and severe class I or II variant in trans; group 2-3849+10kbC>T/F508del patients; group 3-F508del/F508del patients; and group 4-patients with W1282R and "mild" variant in trans. Based on the analyses, W1282R with class I or II variant in trans appears to cause at least as severe CF symptoms as F508del homozygotes as reflected in the early age of diagnosis, high sweat chloride concentration, insufficient pancreatic function, and low lung function, in contrast to 3849+10kbC-T/F508del compound heterozygotes having milder clinical phenotypes. The W1282R pathogenic variant is seemed to lead to severe disease phenotype with pancreatic insufficiency similarly to the F508del homozygous genotype.

Indexed as

MutationPhenotypeAdolescentAdultChildChild, PreschoolCystic FibrosisCystic Fibrosis Transmembrane Conductance RegulatorGenotypeHomozygoteHumansInfantRussiaYoung AdultCFTR protein, humanCystic Fibrosis Transmembrane Conductance Regulatorc.3844T&gtclinical presentationC (p.Trp1282Argcystic fibrosisRussian CF patientsW1282R) variant

Identifiers

PMID32992607
PMCPMC7600230
OpenAlexW3088594796

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.