Evidence map›Paper›PMID 30600599›Full record

ArticleMolecular genetics & genomic medicine2019

Functional analysis of the p.[Arg74Trp;Val201Met;Asp1270Asn]/p.Phe508del CFTR mutation genotype in human native colon.

Sylvia Schucht, Rebecca Minso, Christiane Lex, Jochen Reiss, Frauke Stanke, Stephanie Tamm, Andrea van Barneveld, Burkhard Tümmler

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

Article in Molecular genetics & genomic medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
0.5field-weighted citation impact, top 31% 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

4 citing papers in PubMed, 5 citations in OpenAlex.

  1. Article
  2. The Effect of Complex Alleles of theInternational journal of molecular sciences · 2023
    Review
  3. Article
  4. 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

8 authors at 2 institutions in 1 country.

Sylvia SchuchtPediatric Pulmonary and Allergology Outpatient Clinic, Paediatric Cardiology and Intensive Care Medicine, Universitätsmedizin Göttingen, Göttingen, Germany.
Rebecca MinsoClinical Research Group 'Molecular Pathology of Cystic Fibrosis', Clinic for Paediatric Pneumology, Allergology and Neonatology, Hannover Medical School, Hannover, Germany.
Christiane LexPediatric Pulmonary and Allergology Outpatient Clinic, Paediatric Cardiology and Intensive Care Medicine, Universitätsmedizin Göttingen, Göttingen, Germany.
Jochen ReissInstitute for Human Genetics, Universitätsmedizin Göttingen, Göttingen, Germany.
Frauke StankeClinical Research Group 'Molecular Pathology of Cystic Fibrosis', Clinic for Paediatric Pneumology, Allergology and Neonatology, Hannover Medical School, Hannover, Germany.
Stephanie TammClinical Research Group 'Molecular Pathology of Cystic Fibrosis', Clinic for Paediatric Pneumology, Allergology and Neonatology, Hannover Medical School, Hannover, Germany.
Andrea van BarneveldClinical Research Group 'Molecular Pathology of Cystic Fibrosis', Clinic for Paediatric Pneumology, Allergology and Neonatology, Hannover Medical School, Hannover, Germany.
Burkhard TümmlerClinical Research Group 'Molecular Pathology of Cystic Fibrosis', Clinic for Paediatric Pneumology, Allergology and Neonatology, Hannover Medical School, Hannover, Germany.ORCID 0000-0002-2566-8758
Medizinische Hochschule Hannover · DEUniversitätsmedizin Göttingen · DE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundThe impact of complex alleles on CFTR processing and function has yet not been investigated in native human tissue.

methodsIntestinal current measurements (ICM) followed by CFTR immunoblot were performed on rectal biopsies taken from two siblings who are compound heterozygous for the CFTR mutations p.Phe508del and the complex allele p.[Arg74Trp;Val201Met;Asp1270Asn].

resultsNormal and subnormal chloride secretory responses in the ICM were associated with normal and fourfold reduced amounts of the mature glycoform band C CFTR, respectively, consistent with the unequal clinical phenotype of the siblings.

conclusionThe combined use of bioassay and protein analysis is particularly meaningful to resolve the CFTR phenotype of "indeterminate" borderline CFTR genotypes on a case-to-case basis.

Indexed as

Action PotentialsPhenotypeCell LineCells, CulturedChildChloridesColonCystic Fibrosis Transmembrane Conductance RegulatorHumansIntestinal MucosaIon TransportMaleMutation, MissenseChloridesCystic Fibrosis Transmembrane Conductance Regulatorcystic fibrosis transmembrane conductance regulator delta F508CFTR bioassayCFTR immunoblotcomplex allelecystic fibrosisintestinal current measurement

Identifiers

PMID30600599
PMCPMC6393651
OpenAlexW2906790971

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.