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Study reports the cryo-electron microscopy structure of tetrameric PTCH1 in complex with the palmitoylated N-terminal signaling domain of human Sonic hedgehog at a 4:2 stoichiometric ratio. The structure shows that four PTCH1 protomers are organized as a loose dimer of dimers.
High expression of Patched 1 in malignant prostate epithelium was found to be an independent predictor of biochemical recurrence in high-risk PCa patients.
The authors results suggest that PTCH1 germline polymorphisms may potentially be involved in an undetermined, complex pathway influencing the development of multiple PRAs, seborrhoeic keratoses and ICBCCs
This study contributes to increase the pool of clinical manifestations of NBCCS, as well as increasing the number of pathogenic mutations identified in PTCH1 predisposing to the condition. The inconsistencies found between phenotype and genotype suggest the involvement of other modifying factors, genetic, epigenetic or environmental
interacts with and stabilizes ArhGAP36 to the centrosome to inhibit centrosomal PKA in the absence of Shh signaling
Report recurrent GLI1-PTCH gene fusions in a group of malignant mesenchymal neoplasms involving soft tissue, and occasionally bone, with an often nested epithelioid phenotype and strong S100 immunoreactivity.
MiR-155 worsened high glucose-induced EPC function by downregulating PTCH1.
PTCH1 pathogenic mutations were identified in 16 of 18 families with nevoid basal cell carcinoma syndrome.
atomic insights into the recognition of the N-terminal domain of Sonic Hedgehog (HH-N) by PTCH1, offers a structural basis for cooperative binding of HH-N to various receptors and serves as a molecular framework for HH signalling and its malfunction in disease
3.5-angstrom resolution cryo-electron microscopy structure of native Sonic Hedgehog (SHH-N) in complex with PTCH1 at a physiological calcium concentration reconciles previous disparate findings and demonstrates that one SHH-N molecule engages both epitopes to bind two PTCH1 receptors in an asymmetric manner.
Our findings suggest that c.1175C>T in PTCH1 (NM_000264) may be the causative mutation of this pedigree. Our results add to the evidence that PTCH1 variants play a role in the pathogenesis of orofacial clefts.
Co-occurrence of mutations in FOXP1 and PTCH1 in a girl with extreme megalencephaly, callosal dysgenesis and profound intellectual disability.
Combined heterozygous germline mutations in PTCH1 and PTCH2 were identified in a patient with embryonal rhabdomyosarcoma.
report a patient with a novel, isoform 1b specific mutation in PTCH1 and thereby distinguish PTCH1 isoform 1b as the major transcript in the development of Basal cell nevus syndrome.
Authors have established a locus-specific database for the PTCH1 gene using the Leiden Open Variation Database (LOVD). The database provides an open collection for both clinicians and researchers and is accessible online at http://www.lovd.nl/PTCH1.
this study reports the structures of human Ptch1 alone and in complex with the N-terminal domain of human Sonic hedgehog (ShhN) at resolutions of 3.9 and 3.6 angstroms, respectively, as determined by cryo-electron microscopy.
PVT1 epigenetically down-regulates PTCH1 expression via competitively binding miR-152, contributing to EMT process in liver fibrosis
Study identified a novel frameshift mutation in exon 9 of the PTCH1 gene in a nevoid basal cell carcinoma syndrome case with medulloblastoma and the affected father. This frameshift mutation causes premature stop codon and is responsible for the clinical features.
This is, to our knowledge, the first Gorlin syndrome-causing mutation that has been reported four independent times in distant geographical locations. Therefore, we propose the location of the described mutation as a potential hot spot for mutations in PTCH1.
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 Hedgehog co-receptors patched1 and patched2 are expressed in regions of the perichondrium that will form bone before the onset of ossification.
Results indicate that Patched2-dependent Hh signaling does not likely play an integral role in neuronal cell fate decisions in the zebrafish retina.
The generation and characterization of the ptc1;ptc2 double mutant assigned novel and unexpected functions to the Hh signaling pathway.
study suggests that modifications affecting the Ptch1 cis-regulatory landscape have contributed to evolutionary diversification of artiodactyl limbs
Gpr37l1 genetic ablation, in Ptch1(+/-) model animals, results in marked deferment of medulloblastoma occurrence and decreased incidence of aggressive tumor types.
The N-terminal and C-terminal halves of Ptch1 associated noncovalently to mediate ligand-dependent regulation of Hh signaling.
Shh is capable of activating the Hh pathway via Smoothened, independently of Patched1/2.
It is concluded that during early pseudoglandular stage of lung development Ptch1 patterns Fgf10 and regulates Foxf1 expression in the lung mesenchyme to direct branch formation and this is essential for proper lobe formation and lung function.
The results of the present study indicate that CHL1 triggers PTCH1-, SMO-, RhoA- and ROCK-dependent signal transduction pathways to promote neuronal survival after cessation of the major morphogenetic events during mouse cerebellar development.
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 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 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 expression in the mammary epithelium.
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.
Data indicate that Sonic hedgehog (Shh) stimulate branching morphogenesis (BrM) and induced synthesis of mRNAs for Ptch1 protein, epidermal growth factor (EGF) and receptors of the ErbB receptors ErbB1, ErbB2 and ErbB3.
Data show that the ketogenic diet does not affect growth of Ptch1+/-Trp53-/- Hedgehog (HH) pathway medulloblastoma.
Targeted single gene deletion of Ptch1 in mouse brain causes medulloblastoma.
Transcriptional upregulation of the inhibitory receptor Ptch1 regulates Shh signaling during neural tube development.
There was a lower degree of DNA-methylation in methylation-sensitive CpG regions of the Ptch promoter in RMS compared to normal muscle from heterozygous Ptch animals.
results indicate that whereas ciliary localization of Patched is essential for suppression of Smoothened activation, the primary event enabling Smoothened activation
Dsg2-mediated hyperproliferation, MEK/Erk1/2 activation, and accelerated squamous tumor development are enhanced on the Ptc1+/lacZ background.
Data show that the Hedgehog (Hh) pathway activation by either a ligand or genetic loss of the negatively acting Hh receptor Patched-1 (Ptch) reduced the affinity and frequency of signaling protein Smoothened (Smo) binding at the base.
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