Hereditary hemochromatosis
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Furthermore, Tbx5 was found to negatively regulate the Hh-signaling activity through transcriptional regulation of Ptch1, a known Hh-signaling repressor.
|
31373354 |
2019 |
Hereditary hemochromatosis
|
0.100 |
Biomarker
|
disease |
BEFREE |
Recent structural and biochemical studies have pointed to a sterol lipid, likely cholesterol itself, as the elusive second messenger that communicates the HH signal between PTCH1 and SMO, thus linking ligand reception to transmembrane signalling.
|
31247512 |
2019 |
Hereditary hemochromatosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Basal cell carcinoma (BCC) is the most common human cancer, characterized by aberrant activation of the hedgehog (HH) signaling pathway resulting from mutations in the patched 1 (PTCH1) or smoothened (SMO) genes.
|
31756206 |
2019 |
Hereditary hemochromatosis
|
0.100 |
Biomarker
|
disease |
BEFREE |
Our work provides atomic insights into the recognition of the N-terminal domain of HH (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.
|
29995851 |
2018 |
Hereditary hemochromatosis
|
0.100 |
Biomarker
|
disease |
BEFREE |
Some research has confirmed the hedgehog (Hh) signaling pathway plays an important role in RA pathogenesis; furthermore, patched 1 (PTCH1) is a negative fraction of Hh signaling pathway.
|
28573530 |
2017 |
Hereditary hemochromatosis
|
0.100 |
Biomarker
|
disease |
BEFREE |
In vitro HNCre-mediated Ptch1 deleted lung explants support the in vivo observations, with evidence of mesenchyme hyperproliferation and this is consistent with the previously reported role of Hh signalling in maintaining mesenchymal cell survival.
|
28939119 |
2017 |
Hereditary hemochromatosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Thus, our study clearly demonstrated the unique involvement of the two novel PTCH1 splice variants in HH signal transduction.
|
28390897 |
2017 |
Hereditary hemochromatosis
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
The expression of Hh signal-related proteins including Indian hedgehog (Ihh), patched-1 (Ptch1), smoothened (Smo), glioma-associated oncogene homologue1 (Gli1) in cartilage was assessed by immunohistochemistry and Western blot.
|
27646982 |
2017 |
Hereditary hemochromatosis
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
The Hh signaling pathway appeared to be more active in PCa than in benign prostate tissue, as demonstrated by lower expression of the negative regulators PTCH1 and GLI3 in the tumor tissue compared to benign.
|
28877722 |
2017 |
Hereditary hemochromatosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Patched (Ptc1), the cell surface receptor for hedgehog (Hh) signaling, was also significantly overexpressed and co-localized with GPC5.
|
25978455 |
2015 |
Hereditary hemochromatosis
|
0.100 |
Biomarker
|
disease |
BEFREE |
The GLI genes, GLI1 and GLI2, are transcription factors that regulate target genes at the distal end of the canonical Hedgehog (HH) signaling pathway (SHH->PTCH->SMO->GLI), tightly regulated in embryonic development, tissue patterning and differentiation.
|
24962990 |
2014 |
Hereditary hemochromatosis
|
0.100 |
Biomarker
|
disease |
BEFREE |
The Hedgehog (Hh) signaling response is regulated by the interaction of three key components that include the sonic hedgehog (Shh) ligand, its receptor patched 1 (Ptch1) and the pathway activator smoothened (Smo).
|
25085974 |
2014 |
Hereditary hemochromatosis
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
We were especially interested in Hh target genes (PTCH1 and GLI1), whose expression is elevated in response to Hh signaling.
|
18754037 |
2009 |
Hereditary hemochromatosis
|
0.100 |
Biomarker
|
disease |
BEFREE |
We have established mammalian cell lines with reduced Ptc1 function and a lacZ reporter to investigate Hh signal transduction.
|
12072433 |
2002 |