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

Detecting tissue-specific alternative splicing and disease-associated aberrant splicing of the PTCH gene with exon junction microarrays.

Human molecular genetics - 15 Nov 2005

Nagao Kazuaki, Togawa Naoyuki, Fujii Katsunori, Uchikawa Hideki, Kohno Yoichi, Yamada Masao, Miyashita Toshiyuki

Abstract excerpt

Mutations in the human ortholog of Drosophila patched (PTCH) have been identified in patients with autosomal dominant nevoid basal cell carcinoma syndrome (NBCCS), characterized by minor developmental anomalies and an increased incidence of cancers such as medulloblastoma and basal cell carcinoma. We identified many isoforms of PTCH mRNA involving exons 1-5, exon 10 and a novel exon, 12b, generated by alternative...

Read the complete abstract on PubMed

Topics

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

Share to Alternative Splicing
Share to Basal Cell Nevus Syndrome

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Heart Neoplasms

Share to Organ Specificity

Share to Patched-1 Receptor

Share to Patched Receptors

Share to Protein Isoforms

Share to Receptors, Cell Surface

Source

Identifiers

PMID: 16203740
DOI: 10.1093/hmg/ddi369

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

Detecting tissue-specific alternative splicing and disease-associated aberrant splicing of the PTCH gene with exon junction microarrays.PMID 16203740Read ↗

Isolation and characterization of human patched 2 (PTCH2), a putative tumour suppressor gene inbasal cell carcinoma and medulloblastoma on chromosome 1p32.Semantic proximity Read ↗

Mutations in the human homologue of Drosophila patched (PTCH) in basal cell carcinomas and the Gorlin syndrome: different in vivo mechanisms of PTCH inactivation.Semantic proximity Read ↗

Mutations in the human homologue of the Drosophila segment polarity gene patched (PTCH) in sporadic basal cell carcinomas of the skin and primitive neuroectodermal tumors of the central nervous system.Semantic proximity Read ↗

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

Nevoid basal cell carcinoma syndrome caused by splicing mutations in the PTCH1 gene.Semantic proximity Read ↗

Molecular characterization of Italian nevoid basal cell carcinoma syndrome patients.Semantic proximity Read ↗

Somatic mutations in the human homologue of Drosophila patched in primitive neuroectodermal tumours.Semantic proximity Read ↗

Trichoepitheliomas contain somatic mutations in the overexpressed PTCH gene: support for a gatekeeper mechanism in skin tumorigenesis.Semantic proximity Read ↗

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

Most germ-line mutations in the nevoid basal cell carcinoma syndrome lead to a premature termination of the PATCHED protein, and no genotype-phenotype correlations are evident.Semantic proximity Read ↗

The effects of splice site mutations in patients with naevoid basal cell carcinoma syndrome.Semantic proximity Read ↗

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