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Results demonstrate a direct link between overproliferation and retinal dysplasia in the ptc2 (show PTCH2 Proteins)-/- juvenile retina and establish ectopic proliferation as the likely cellular underpinning of retinal dysplasia in juvenile ptc2 (show PTCH2 Proteins)-/- mutants.
The Hedgehog (show SHH Proteins) co-receptors patched1 and patched2 are expressed in regions of the perichondrium that will form bone before the onset of ossification.
The generation and characterization of the ptc1;ptc2 (show PTCH2 Proteins) double mutant assigned novel and unexpected functions to the Hh signaling pathway.
Positional cloning of blowout identified a nonsense mutation in patched1, a negative regulator of the Hedgehog (show SHH Proteins) pathway, as the underlying cause of the blowout phenotype.
Patients with missense variants in PTCH1 were diagnosed later and less likely to have developed at least 10 basal cell carcinomas and jaw cysts. Patients with identified PTCH1 variants were more likely to be diagnosed earlier, have developed jaw cysts and have bifid ribs or any skeletal abnormality.
The authors found 15 germline PTCH1 mutations, uniformly distributed across the PTCH1 gene among patients with Basaloid Follicular Hamartoma and Basal Cell Carcinoma. Therefore, Basaloid Follicular Hamartoma and Basal Cell Carcinoma may be the same genetic entity and not two distinctive syndromes.
This study indicates that germline PTCH1 heterozygous mutations play a major role in bone metabolism in patients with NBCCS, in particular in those with PTCH1 protein truncation mutations. SPARC (show SPARC Proteins) may represent an important downstream modulator of PTCH1 mediation of bone metabolism.
Demonstrate altered cytoplasmic expression of Ptc1 and reduced number and length of primary cilia, where Ptc1 is located, in fibroblasts from Niemann-Pick type C patients.
Nevoid basal cell carcinoma syndrome caused by splicing mutations in the PTCH1 gene.
PTCH1 expression is a promising molecular marker for predicting the imatinib response in chronic myeloid leukemia (show BCL11A Proteins) patients in chronic phase.
the significant increase of blunt-ended, double-stranded DNA breaks, but not other types of DNA breaks, in normal cells from patients with RET/PTC (show RET Proteins)-driven tumors suggests that blunt-ended double-stranded DNA breaks are a preferred substrate for rearrangement formation, and implicate involvement of the non-homologous end joining pathway in the formation of RET/PTC (show RET Proteins) rearrangements.
Thus, our study clearly demonstrated the unique involvement of the two novel PTCH1 splice variants in HH signal transduction.
These data reveal an interaction between the cytoplasmic domains of Ptch1 and that these domains modulate Ptch1 activity but are not essential for regulation of the Hh pathway.
epigenetic silencing of PTCH is a mechanism contributing to chronic lymphocytic leukemia tumorigenesis
study suggests that modifications affecting the Ptch1 cis (show CISH Proteins)-regulatory landscape have contributed to evolutionary diversification of artiodactyl limbs
A subset of miRNAs expression is altered in GCPs by radiation alone, and the same miRNAs were validated in spontaneous and radiation-induced medulloblastoma (MB) from Ptch1+/- mice, confirming of these miRNAs in the pathogenesis of MB.
during Hedgehog (show SHH Proteins) signaling, ligand binding inhibits Patched by trapping it in an inactive conformation, a mechanism that explains the dramatically reduced activity of oncogenic Patched1 mutants.
The seemingly simple, constitutive Hedgehog (show SHH Proteins) response of patched/Ptch1 is driven by a complex regulatory architecture, with batteries of context-specific enhancers engaged in promoter-specific interactions to tune signaling individually in each tissue, without disturbing patterning elsewhere.
These findings support a model in which Ptch1/2 mediate secretion of a Smo-inhibitory cholesterol precursor.
Ptch1 required for ductal outgrowth and proper hormone receptor (show NR4A1 Proteins) expression in the mammary epithelium.
Data indicate that Sonic hedgehog (Shh (show SHH Proteins)) stimulate branching morphogenesis (BrM (show SMARCA2 Proteins)) and induced synthesis of mRNAs for Ptch1 protein, epidermal growth factor (EGF (show EGF Proteins)) and receptors of the ErbB (show EGFR Proteins) receptors ErbB1 (show EGFR Proteins), ErbB2 (show ERBB2 Proteins) and ErbB3 (show ERBB3 Proteins).
Data show that the ketogenic diet does not affect growth of Ptch1+/-Trp53 (show TP53 Proteins)-/- Hedgehog (show SHH Proteins) (HH) pathway medulloblastoma.
Targeted single gene deletion of Ptch1 in mouse brain causes medulloblastoma.
This gene encodes a member of the patched gene family. The encoded protein is the receptor for sonic hedgehog, a secreted molecule implicated in the formation of embryonic structures and in tumorigenesis, as well as the desert hedgehog and indian hedgehog proteins. This gene functions as a tumor suppressor. Mutations of this gene have been associated with basal cell nevus syndrome, esophageal squamous cell carcinoma, trichoepitheliomas, transitional cell carcinomas of the bladder, as well as holoprosencephaly. Alternative splicing results in multiple transcript variants encoding different isoforms. Additional splice variants have been described, but their full length sequences and biological validity cannot be determined currently.
PTCH protein +12b
, PTCH protein +4'
, PTCH protein -10
, PTCH protein -3,4,5
, protein patched homolog 1
, patched 2
, patched homolog 2
, patched homolog 1
, patched 1
, protein patched homolog 1-like
, Patched 1
, Ptch1 protein +12b
, mesenchymal dysplasia
, patched protein
, patched-like protein
, LOW QUALITY PROTEIN: protein patched homolog 1