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

Genetic investigations of Saethre-Chotzen syndrome presenting with renal cell carcinoma.

Cancer genetics and cytogenetics - 1 Nov 2006

Seifert Georg, Kress Wolfram, Meisel Christian, Henze Günter, Seeger Karl

Abstract excerpt

Saethre-Chotzen syndrome (SCS) is a craniosynostosis syndrome characterized by facial and limb abnormalities caused by mutations in the TWIST1 gene on 7p21, resulting in variable loss of function. The transcription factor TWIST1 has also been shown to promote tumor growth and has been linked to the formation of metastases in breast cancers. One suggestive case of inherited SCS and malignancy in childhood has been...

Read the complete abstract on PubMed

Topics

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

Share to Acrocephalosyndactylia
Share to Carcinoma, Renal Cell

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Culture Media, Conditioned

Share to Cytokines

Share to Liver Neoplasms

Share to Nuclear Proteins

Share to T-Lymphocytes

Share to Twist-Related Protein 1

Source

Identifiers

PMID: 17074596
DOI: 10.1016/j.cancergencyto.2006.06.012

Genes

TWIST1

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

Genetic investigations of Saethre-Chotzen syndrome presenting with renal cell carcinoma.PMID 17074596Read ↗

A novel TWIST1 gene mutation in a patient with Saethre-Chotzen syndrome.Semantic proximity Read ↗

Saethre-Chotzen syndrome and hyper IgE syndrome in a patient with a novel 11 bp deletion of the TWIST gene.Semantic proximity Read ↗

Breast cancer risk is not increased in individuals with TWIST1 mutation confirmed Saethre-Chotzen syndrome: an Australian multicenter study.Semantic proximity Read ↗

Saethre-Chotzen syndrome: a case report.Semantic proximity Read ↗

Genetic analysis of patients with the Saethre-Chotzen phenotype.Semantic proximity Read ↗

Mutations of the TWIST gene in the Saethre-Chotzen syndrome.Semantic proximity Read ↗

Saethre–Chotzen syndrome with an atypical phenotype: identification of TWIST microdeletion by array CGH.Semantic proximity Read ↗

Clinical findings in four Brazilian families affected by Saethre-Chotzen syndrome without TWIST mutations.Semantic proximity Read ↗

A de novo balanced translocation t(7;12)(p21.2;p12.3) in a patient with Saethre-Chotzen-like phenotype downregulates TWIST and an osteoclastic protein-tyrosine phosphatase, PTP-oc.Semantic proximity Read ↗

Renal cell carcinoma with t(X;17): singular pediatric neoplasm with specific phenotype/genotype features.Semantic proximity Read ↗

TWIST microdeletion identified by array CGH in a patient presenting Saethre-Chotzen phenotype and a complex rearrangement involving chromosomes 2 and 7.Semantic proximity Read ↗

Mutations in the human TWIST gene.Semantic proximity Read ↗

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