Associated Papers
Genomic landscape of medulloblastoma subtypes in an Asian cohort.
Han D et al.
Translational Cancer Research, 2024
Retrospective investigation of hereditary syndromes in patients with medulloblastoma in a single institution.
Wang Y et al.
Child's Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery, 2021
Gorlin Syndrome: Recent Advances in Genetic Testing and Molecular and Cellular Biological Research.
Onodera S et al.
International Journal of Molecular Sciences, 2020
Biallelic PTCH1 Inactivation Is a Dominant Genomic Change in Sporadic Keratocystic Odontogenic Tumors.
Stojanov IJ et al.
The American Journal of Surgical Pathology, 2020
The protein-specific activities of the transmembrane modules of Ptch1 and Ptch2 are determined by their adjacent protein domains.
Fleet AJ et al.
The Journal of Biological Chemistry, 2018
Structural basis for the recognition of Sonic Hedgehog by human Patched1.
Gong X et al.
Science (new York, N.y.), 2018
Cardiac Fibroma with Ventricular Tachycardia: An Unusual Clinical Presentation of Nevoid Basal Cell Carcinoma Syndrome.
Ritter AL et al.
Molecular Syndromology, 2018
Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory network.
Chassaing N et al.
Genome Research, 2016
PTCH1 gene mutations in Keratocystic odontogenic tumors: a study of 43 Chinese patients and a systematic review.
Guo YY et al.
Plos One, 2013
Combination of hedgehog signaling blockage and chemotherapy leads to tumor reduction in pancreatic adenocarcinomas.
Bahra M et al.
Pancreas, 2012
Mechanisms of inactivation of PTCH1 gene in nevoid basal cell carcinoma syndrome: modification of the two-hit hypothesis.
Pan S et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2010
Germline mutations of the PTCH gene in families with odontogenic keratocysts and nevoid basal cell carcinoma syndrome.
Song YL et al.
Tumour Biology : the Journal of the International Society for Oncodevelopmental Biology and Medicine, 2006
Detecting tissue-specific alternative splicing and disease-associated aberrant splicing of the PTCH gene with exon junction microarrays.
Nagao K et al.
Human Molecular Genetics, 2005
Molecular characterization of Italian nevoid basal cell carcinoma syndrome patients.
Pastorino L et al.
Human Mutation, 2005
Germline mutations of the PTCH gene in Japanese patients with nevoid basal cell carcinoma syndrome.
Tanioka M et al.
Archives of Dermatological Research, 2005
Functional analysis in Drosophila indicates that the NBCCS/PTCH1 mutation G509V results in activation of smoothened through a dominant-negative mechanism.
Hime GR et al.
Developmental Dynamics : an Official Publication of the American Association of Anatomists, 2004
Mutations in the human homologue of Drosophila patched in Japanese nevoid basal cell carcinoma syndrome patients.
Fujii K et al.
Human Mutation, 2003
A new germline mutation of the PTCH gene in a Japanese patient with nevoid basal cell carcinoma syndrome associated with meningioma.
Tate G et al.
Japanese Journal of Clinical Oncology, 2003
Several PATCHED1 missense mutations display activity in patched1-deficient fibroblasts.
Bailey EC et al.
The Journal of Biological Chemistry, 2002
Clinical testing for the nevoid basal cell carcinoma syndrome in a DNA diagnostic laboratory.
Klein RD et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 0