Evidence map›Paper›PMID 14567084›Full record

ReviewDer Internist2003

[Molecular genetics principles in cystic fibrosis. An example of genetic illness in pneumology].

B Tümmler, M Stuhrmann

Abstract readReview
PubMed Publisher
In one paragraph

Review in Der Internist, 2003. 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, top 85% 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, 4 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

2 authors at 1 institution in 1 country.

B TümmlerKlinische Forschergruppe, OE 6710, Medizinische Hochschule Hannover. tuemmler.burkhard@mh-hannover.de
M Stuhrmann
Medizinische Hochschule Hannover · DE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The generalized exocrinopathy cystic fibrosis (CF) is caused by molecular lesions in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. The basic defect of this autosomal-recessive disorder manifests in decreased permeability for chloride ions across the apical epithelial membrane. Of the more than 1,000 known CFTR mutations the most frequent mutation F508del occurs on about 70% of North- and Mideuropean CF chromosomes. CFTR mutations are also causatively involved in male infertility, pancreatitis and several airway diseases like disseminated bronchiectasis. The differential diagnosis between CF, other CFTR-opathies and diseases of unrelated etiology can be achieved by the assessment of clinical symptoms, CFTR mutation analysis and electrophysiological bioassays (sweat test, nasal potential difference, intestinal current measurements).

Indexed as

Chromosome AberrationsCystic FibrosisCystic Fibrosis Transmembrane Conductance RegulatorDNA Mutational AnalysisGenes, RecessiveGenetic Carrier ScreeningGenetics, PopulationGenetic TestingGenotypeHumansPhenotypeCFTR protein, humanCystic Fibrosis Transmembrane Conductance Regulator

Identifiers

PMID14567084
OpenAlexW2083530895

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.