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

STK11/LKB1 germline mutations are not identified in most Peutz-Jeghers syndrome patients.

Clinical genetics - 1 Aug 1999

Jiang C Y, Esufali S, Berk T, Gallinger S, Cohen Z, Tobi M, Redston M, Bapat B

Abstract excerpt

Germline mutations of the STK11 gene mapped to chromosome 19p13.3 are responsible for Peutz Jeghers syndrome (PJS), a dominant disorder associated with characteristic gastrointestinal hamartomatous polyps and a predisposition to various cancers. We conducted a detailed investigation of germline STK11 alterations by protein truncation test and genomic DNA sequence analysis in ten unrelated PJS families. We...

Read the complete abstract on PubMed

Topics

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

Share to AMP-Activated Protein Kinase Kinases
Share to Chromosomes, Human, Pair 19

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Gene Deletion

Share to Germ-Line Mutation

Share to Introns

Share to Loss of Heterozygosity

Share to Peutz-Jeghers Syndrome

Share to Protein Serine-Threonine Kinases

Source

Identifiers

PMID: 10517250
DOI: 10.1034/j.1399-0004.1999.560207.x

Genes

STK11

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

STK11/LKB1 germline mutations are not identified in most Peutz-Jeghers syndrome patients.PMID 10517250Read ↗

Novel mutations in the LKB1/STK11 gene in Dutch Peutz-Jeghers families.Semantic proximity Read ↗

Analysis of STK11 gene variant in five Chinese patients with Peutz-Jeghers syndrome.Semantic proximity Read ↗

High prevalence of germline STK11 mutations in Hungarian Peutz-Jeghers Syndrome patients.Semantic proximity Read ↗

STK11/LKB1 germline mutations in the first Peutz-Jeghers syndrome patients identified in Slovakia.Semantic proximity Read ↗

Molecular and clinical characteristics in 46 families affected with Peutz-Jeghers syndrome.Semantic proximity Read ↗

A novel mutation in STK11 gene is associated with Peutz-Jeghers syndrome in Chinese patients.Semantic proximity Read ↗

A 23-Nucleotide Deletion in STK11 Gene Causes Peutz-Jeghers Syndrome and Malignancy in a Chinese Patient Without a Positive Family History.Semantic proximity Read ↗

Two novel mutations and a new STK11/LKB1 gene isoform in Peutz-Jeghers patients.Semantic proximity Read ↗

STK11 mutations in Peutz-Jeghers syndrome and sporadic colon cancer.Semantic proximity Read ↗

Further observations on LKB1/STK11 status and cancer risk in Peutz-Jeghers syndrome.Semantic proximity Read ↗

Somatic mutations in the Peutz-Jeghers (LKB1/STKII) gene in sporadic malignant melanomas.Semantic proximity Read ↗

Mutations in the human LKB1/STK11 gene.Semantic proximity Read ↗

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