Associated Papers
BRAF mutations and targeted therapy in unclassified pericytic tumors: insights from genetic analysis and clinical response.
Golan H et al.
Bmc Cancer, 2025
Tumor DNA from tumor in situ fluid was used to track evolution of glioma under first-line treatment.
Yu J et al.
Frontiers in Oncology, 2025
Protocol optimization of a targeted sequencing panel for genomic profiling of bronchoalveolar lavage fluid in lung cancer.
Sather CL et al.
Cancer Medicine, 2023
Response prediction in patients with gastric and esophagogastric adenocarcinoma under neoadjuvant chemotherapy using targeted gene expression analysis and next-generation sequencing in pre-therapeutic biopsies.
Kleo K et al.
Journal of Cancer Research and Clinical Oncology, 2023
Prevalence of germline pathogenic variants in 22 cancer susceptibility genes in Swedish pediatric cancer patients.
von Stedingk K et al.
Scientific Reports, 2021
Identification of New Tumor-Related Gene Mutations in Chinese Gastrointestinal Stromal Tumors.
Feng Y et al.
Frontiers in Cell and Developmental Biology, 2021
Genetic landscape and ligand-dependent activation of sonic hedgehog-Gli1 signaling in chordomas: a novel therapeutic target.
Yang C et al.
Oncogene, 2020
Intraventricular meningiomas frequently harbor NF2 mutations but lack common genetic alterations in TRAF7, AKT1, SMO, KLF4, PIK3CA, and TERT.
Jungwirth G et al.
Acta Neuropathologica Communications, 2019
Deleterious Mutations in DNA Repair Gene FANCC Exist in BRCA1/2-Negative Chinese Familial Breast and/or Ovarian Cancer Patients.
Pan ZW et al.
Frontiers in Oncology, 2019
Potential hot spot for de novo mutations in PTCH1 gene in Gorlin syndrome patients: a case report of twins from Croatia.
Musani V et al.
Croatian Medical Journal, 2018
[Association of genetic polymorphisms in HjV-BMPs-SMADs pathway of hepcidin regulation with the incidence of anemia in Chinese adolescent aged 12 -18 years old].
Piao W et al.
Wei Sheng Yan Jiu = Journal of Hygiene Research, 2016
A Novel Inherited Mutation in PRKAR1A Abrogates PreRNA Splicing in a Carney Complex Family.
Sun Y et al.
The Canadian Journal of Cardiology, 2015
Association between PTCH1 polymorphisms and risk of neural tube defects in a Chinese population.
Wang Z et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology, 2013
PTCH1 gene polymorphisms in ovarian tumors: potential protective role of c.3944T allele.
Musani V et al.
Gene, 2013
Association of SMO polymorphisms and neural tube defects in the Chinese population from Shanxi Province.
Wang Z et al.
International Journal of Clinical and Experimental Medicine, 2013
Heterogeneity of familial medulloblastoma and contribution of germline PTCH1 and SUFU mutations to sporadic medulloblastoma.
Slade I et al.
Familial Cancer, 2011
Downregulation of the hedgehog receptor PTCH1 in colorectal serrated adenocarcinomas is not caused by PTCH1 mutations.
Stefanius K et al.
Virchows Archiv : an International Journal of Pathology, 2011
PTCH1 gene haplotype association with basal cell carcinoma after transplantation.
Begnini A et al.
The British Journal of Dermatology, 2010
New mutation of the patched homologue 1 gene in a Chinese family with naevoid basal cell carcinoma syndrome.
Wang W et al.
The British Journal of Oral & Maxillofacial Surgery, 2009
Nevoid basal cell carcinoma syndrome (Gorlin syndrome).
Lo Muzio L
Orphanet Journal of Rare Diseases, 2008
PTCH1 and SMO gene alterations in keratocystic odontogenic tumors.
Sun LS et al.
Journal of Dental Research, 2008
UV fingerprints predominate in the PTCH mutation spectra of basal cell carcinomas independent of clinical phenotype.
Heitzer E et al.
The Journal of Investigative Dermatology, 2007
Deregulation of the hedgehog signalling pathway: a possible role for the PTCH and SUFU genes in human rhabdomyoma and rhabdomyosarcoma development.
Tostar U et al.
The Journal of Pathology, 2006
Molecular characterization of Italian nevoid basal cell carcinoma syndrome patients.
Pastorino L et al.
Human Mutation, 2005
Analysis of the PTCH coding region in human rhabdomyosarcoma.
Calzada-Wack J et al.
Human Mutation, 2002