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

Germline mutations of the PTCH gene in Japanese patients with nevoid basal cell carcinoma syndrome.

Archives of dermatological research - 1 Jan 2005

Tanioka Miki, Takahashi Katsu, Kawabata Tomohiro, Kosugi Shinji, Murakami Kenichiro, Miyachi Yoshiki, Nishigori Chikako, Iizuka Tadahiko

Abstract excerpt

We identified seven novel germline mutations of the PTCH gene in eight unrelated Japanese patients with nevoid basal cell carcinoma syndrome (NBCCS). In order to ensure genetic diagnosis, all 23 coding exons of the PTCH gene were amplified from genomic DNA by polymerase chain reaction (PCR) and s...

Read the complete abstract on PubMed

Topics

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

Share to Basal Cell Nevus Syndrome
Share to Exons
Share to Genes, Tumor Suppressor

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Germ-Line Mutation

Share to Patched-1 Receptor

Share to Patched Receptors

Share to Receptors, Cell Surface

Source

Identifiers

PMID: 15565302
DOI: 10.1007/s00403-004-0520-1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-15565302-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Germline mutations of the PTCH gene in Japanese patients with nevoid basal cell carcinoma syndrome.PMID 15565302Read ↗

Germline PTCH1 mutations in Japanese basal cell nevus syndrome patients.Semantic proximity Read ↗

Mutations in the human homologue of Drosophila patched in Japanese nevoid basal cell carcinoma syndrome patients.Semantic proximity Read ↗

A novel mutation of the PTCH1 gene activates the Shh/Gli signaling pathway in a Chinese family with nevoid basal cell carcinoma syndrome.Semantic proximity Read ↗

Novel PTCH1 mutations in Japanese Nevoid basal cell carcinoma syndrome patients: two familial and three sporadic cases including the first Japanese patient with medulloblastoma.Semantic proximity Read ↗

Nevoid basal cell carcinoma syndrome with cleft lip and palate associated with the novel PTCH gene mutations.Semantic proximity Read ↗

Frameshift mutation in the PTCH2 gene can cause nevoid basal cell carcinoma syndromeSemantic proximity Read ↗

PTCH mutations: distribution and analyses.Semantic proximity Read ↗

Novel PTCH1 Gene Mutation in Nevoid Basal Cell Carcinoma Syndrome.Semantic proximity Read ↗

A new mutation of PTCH gene in a Chinese family with nevoid basal cell carcinoma syndrome.Semantic proximity Read ↗

Clinical and genetic profiling of nevoid basal cell carcinoma syndrome in Korean patients by whole-exome sequencing.Semantic proximity Read ↗

Targeted exome sequencing and chromosomal microarray for the molecular diagnosis of nevoid basal cell carcinoma syndrome.Semantic proximity Read ↗

A novel PTCH1 mutation in a patient of nevoid basal cell carcinoma syndrome.Semantic proximity Read ↗

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