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Results demonstrate a direct link between overproliferation and retinal dysplasia in the ptc2-/- juvenile retina and establish ectopic proliferation as the likely cellular underpinning of retinal dysplasia in juvenile ptc2-/- mutants.
The Hedgehog (show SHH ELISA Kits) 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 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 ELISA Kits) pathway, as the underlying cause of the blowout phenotype.
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 ELISA Kits) 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 ELISA Kits)-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 ELISA Kits) 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
PTCH1 mutations contribute to as much as 10% of ODA, identify the SHH (show SHH ELISA Kits) signaling pathway as a novel effector of SOX2 (show SOX2 ELISA Kits) activity during human ocular development, and indicate that ODA is likely the result of overactive SHH (show SHH ELISA Kits) signaling in humans harboring mutations in either PTCH1 or SOX2 (show SOX2 ELISA Kits).
Naevoid basal cell carcinoma syndrome (NBCCS) is a rare autosomal dominantly inherited disorder with primary mutations in the Patched (PTCH1) gene
This is the first report describing a GS-associated ovarian tumor carrying a second hit in the PTCH1 region.
study suggests that modifications affecting the Ptch1 cis (show CISH ELISA Kits)-regulatory landscape have contributed to evolutionary diversification of artiodactyl limbs
The seemingly simple, constitutive Hedgehog (show SHH ELISA Kits) 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 ELISA Kits) expression in the mammary epithelium.
Data indicate that Sonic hedgehog (Shh (show SHH ELISA Kits)) stimulate branching morphogenesis (BrM (show SMARCA2 ELISA Kits)) and induced synthesis of mRNAs for Ptch1 protein, epidermal growth factor (EGF (show EGF ELISA Kits)) and receptors of the ErbB (show EGFR ELISA Kits) receptors ErbB1 (show EGFR ELISA Kits), ErbB2 (show ERBB2 ELISA Kits) and ErbB3 (show ERBB3 ELISA Kits).
Data show that the ketogenic diet does not affect growth of Ptch1+/-Trp53 (show TP53 ELISA Kits)-/- Hedgehog (show SHH ELISA Kits) (HH) pathway medulloblastoma.
Targeted single gene deletion of Ptch1 in mouse brain causes medulloblastoma.
Transcriptional upregulation of the inhibitory receptor Ptch1 regulates Shh (show SHH ELISA Kits) signaling during neural tube development.
There was a lower degree of DNA-methylation (show HELLS ELISA Kits) in methylation-sensitive CpG regions of the Ptch promoter in RMS compared to normal muscle from heterozygous Ptch animals.
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.
, patched 1
, protein patched homolog 1
, patched homolog 1
, patched protein-like protein
, protein patched homolog 1-like
, patched protein
, patched-like protein
, PTCH protein +12b
, PTCH protein +4'
, PTCH protein -10
, PTCH protein -3,4,5
, patched homolog 2
, patched 2
, Patched 1
, Ptch1 protein +12b
, mesenchymal dysplasia