نتایج جستجو برای: ptch1
تعداد نتایج: 516 فیلتر نتایج به سال:
Gli repressor formation via Protein kinase A (PKA) activation. In the current study, we generated a chondrocyte-specific knockout mouse strain of Suppressor of Fused (Sufu) and demonstrated that loss of Sufu leads to elevated expression of Hh target genes, Gli1 and Patched 1 (Ptch1), in the growth plate. Histological analysis illustrated an increase of proliferating cells and a reduction of the...
Gli repressor formation via Protein kinase A (PKA) activation. In the current study, we generated a chondrocyte-specific knockout mouse strain of Suppressor of Fused (Sufu) and demonstrated that loss of Sufu leads to elevated expression of Hh target genes, Gli1 and Patched 1 (Ptch1), in the growth plate. Histological analysis illustrated an increase of proliferating cells and a reduction of the...
In vivo functional investigation of oncogenes using somatic gene transfer has been successfully exploited to validate their role in tumorigenesis. For tumour suppressor genes this has proven more challenging due to technical aspects. To provide a flexible and effective method for investigating somatic loss-of-function alterations and their influence on tumorigenesis, we have established CRISPR/...
Basal cell nevus syndrome (BCNS, OMIM 109400) is a familial cancer characterized by the development of numerous basal cancers and various other developmental abnormalities, including epidermal cysts skin, calcified dural folds, keratocysts jaw, palmar plantar pits, ovarian fibromas, medulloblastomas, lymphomesenteric cysts, fetal rhabdomyomas. BCNS shows autosomal dominant inheritance caused mu...
acrjourna understanding of the anatomy and development of fetal and adult hair follicles and the molecular of the major embryonic pathways that regulate the hair follicle have led to exciting discoveries rning the development of basal cell carcinoma (BCC). These studies have shed light on the major f Sonic hedgehog (Shh) signaling and its interactions with the insulin-like growth factor (IGF) a...
Despite the importance of Hedgehog signaling in bone development, the relationship between Hedgehog pathway expression and osteosarcoma clinical characteristics and outcome has not been investigated. In this study of 43 high-grade human osteosarcoma samples, we detected high expression levels of the Hedgehog ligand gene, IHH, and target genes, PTCH1 and GLI1, in most samples. Further analysis i...
Nevoid basal cell carcinoma syndrome (Gorlin syndrome) is a rare autosomal dominant disorder characterized by numerous basal cell carcinomas, keratocystic odontogenic tumors of the jaws, and diverse developmental defects. This disorder is associated with mutations in tumor suppressor gene Patched 1 (PTCH1). We present two patients with Gorlin syndrome, one sporadic and one familial. Clinical ex...
Basal cell carcinoma (BCC) is characterized by frequent loss of PTCH1, leading to constitutive activation of the Hedgehog pathway. Although the requirement for Hedgehog in BCC is well established, the identity of disease-initiating cells and the compartments in which they reside remain controversial. By using several inducible Cre drivers to delete Ptch1 in different cell compartments in mice, ...
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