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

Development of a denaturing high-performance liquid chromatography screening method for SMAD4 in juvenile polyposis syndrome.

Annals of clinical biochemistry - 1 Mar 2007

Hatch Sarah L, Trewick Anne L, Payne Stewart J

Abstract excerpt

BACKGROUND: Juvenile polyposis syndrome is an inherited condition associated with the development of gastrointestinal polyps and subsequent cancer. An efficient denaturing high-performance liquid chromatography (DHPLC) screening method has been developed to detect mutations in SMAD4, which account for around 20% of reported cases. METHODS: The nucleotide sequences of polymerase chain reaction (PCR)amplified SMAD4...

Read the complete abstract on PubMed

Topics

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

Share to Chromatography, High Pressure Liquid
Share to DNA Mutational Analysis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Testing

Share to Intestinal Polyposis

Share to Nucleic Acid Denaturation

Share to Reproducibility of Results

Share to Smad4 Protein

Source

Identifiers

PMID: 17362581
DOI: 10.1258/000456307780118181

Genes

SMAD4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Development of a denaturing high-performance liquid chromatography screening method for SMAD4 in juvenile polyposis syndrome.PMID 17362581Read ↗

A review of juvenile polyposis syndrome.Semantic proximity Read ↗

Comprehensive analysis of SMAD4 mutations and protein expression in juvenile polyposis: evidence for a distinct genetic pathway and polyp morphology in SMAD4 mutation carriers.Semantic proximity Read ↗

Mutations in the SMAD4/DPC4 gene in juvenile polyposis.Semantic proximity Read ↗

SMAD4 variants and its genotype–phenotype correlations to juvenile polyposis syndromeSemantic proximity Read ↗

Disease expression in juvenile polyposis syndrome: a retrospective survey on a cohort of 221 European patients and comparison with a literature-derived cohort of 473 SMAD4/BMPR1A pathogenic variant carriersSemantic proximity Read ↗

Chromosomal translocation disrupting the SMAD4 gene resulting in the combined phenotype of Juvenile polyposis syndrome and Hereditary Hemorrhagic Telangiectasia.Semantic proximity Read ↗

SMAD genes in juvenile polyposis.Semantic proximity Read ↗

Mutation screening in juvenile polyposis syndrome.Semantic proximity Read ↗

Role of Smad4 (DPC4) inactivation in human cancer.Semantic proximity Read ↗

Identification of a novel <i>BMPR1A</i> germline mutation in a Korean juvenile polyposis patient without <i>SMAD4</i> mutationSemantic proximity Read ↗

High proportion of large genomic deletions and a genotype phenotype update in 80 unrelated families with juvenile polyposis syndrome.Semantic proximity Read ↗

Large genomic deletions of SMAD4, BMPR1A and PTEN in juvenile polyposis.Semantic proximity Read ↗

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