Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

A neutral variant involved in a complex CFTR allele contributes to a severe cystic fibrosis phenotype.

Human genetics - 1 May 2005

Clain Jérôme, Lehmann-Che Jacqueline, Girodon Emmanuelle, Lipecka Joanna, Edelman Aleksander, Goossens Michel, Fanen Pascale

Abstract excerpt

In order to further elucidate the contribution of complex alleles to the wide phenotypic variability of cystic fibrosis (CF), we investigated the structure-function relationships of a severe CF-associated complex allele [p.S912L;p.G1244V]. To evaluate the contribution of each mutation to the phenotype, cystic fibrosis transmembrane conductance regulator (CFTR) mutants were expressed in HeLa cells and analysed for...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Alleles
Share to Chloride Channels

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Cystic Fibrosis

Share to Cystic Fibrosis Transmembrane Conductance Regulator

Share to Genes, Recessive

Share to Genetic Variation

Share to HeLa Cells

Share to Polymorphism, Genetic

Source

Identifiers

PMID: 15744523
DOI: 10.1007/s00439-004-1246-z

Genes

CFTR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A neutral variant involved in a complex CFTR allele contributes to a severe cystic fibrosis phenotype.PMID 15744523Read ↗

Two mild cystic fibrosis-associated mutations result in severe cystic fibrosis when combined in cis and reveal a residue important for cystic fibrosis transmembrane conductance regulator processing and function.Semantic proximity Read ↗

CFTR mutation combinations producing frequent complex alleles with different clinical and functional outcomes.Semantic proximity Read ↗

CFTR complex alleles and phenotypic variability in cystic fibrosis disease.Semantic proximity Read ↗

Genotype-phenotype correlation and functional studies in patients with cystic fibrosis bearing CFTR complex alleles.Semantic proximity Read ↗

[R74W;R1070W;D1270N]: a new complex allele responsible for cystic fibrosis.Semantic proximity Read ↗

A new complex allele of the CFTR gene partially explains the variable phenotype of the L997F mutation.Semantic proximity Read ↗

Misprocessing of the CFTR protein leads to mild cystic fibrosis phenotype.Semantic proximity Read ↗

Complex allele [-102T>A+S549R(T>G)] is associated with milder forms of cystic fibrosis than allele S549R(T>G) alone.Semantic proximity Read ↗

Multi-physiopathological consequences of the c.1392G>T CFTR mutation revealed by clinical and cellular investigations.Semantic proximity Read ↗

Effect of the Complex Allele p.[Ile148Thr;Ile1023_Val1024del] 2 in Cystic Fibrosis and Tracing of a Founder Effect in Mexican 3 FamiliesSemantic proximity Read ↗

CFTR processing, trafficking and interactions.Semantic proximity Read ↗

The Effect of Synonymous Single-Nucleotide Polymorphisms on an Atypical Cystic Fibrosis Clinical PresentationSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.