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anti-Human Patched 2 Anticorps:
anti-Mouse (Murine) Patched 2 Anticorps:
anti-Rat (Rattus) Patched 2 Anticorps:
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Frameshift mutation in the PTCH2 gene can cause nevoid basal cell carcinoma syndrome.
PTCH2 isoforms have distinct roles in Hedgehog (Montrer SHH Anticorps) signalling.
PTCH2 (2157G-->A), a novel missense mutation, underlies NBCCS (Montrer PTCH1 Anticorps), resulting in the loss of PTCH2 inhibitory function in the Shh (Montrer SHH Anticorps) signalling pathway.
A susceptibility locus on 1p32-1p34 for congenital macrostomia in a Chinese family and identification of a novel PTCH2 mutation are reported.
during Hedgehog (Montrer SHH Anticorps) signaling, ligand binding inhibits Patched (Montrer PTCH1 Anticorps) by trapping it in an inactive conformation, a mechanism that explains the dramatically reduced activity of oncogenic Patched1 (Montrer PTCH1 Anticorps) mutants.
These findings support a model in which Ptch1 (Montrer PTCH1 Anticorps)/2 mediate secretion of a Smo-inhibitory cholesterol precursor.
Ptch2(-/-) niche cells show hyperactive noncanonical HH signaling, resulting in reduced production of essential HSC (Montrer FUT1 Anticorps) regulators (Scf (Montrer KITLG Anticorps), Cxcl12 (Montrer CXCL12 Anticorps), and Jag1 (Montrer JAG1 Anticorps)) and depletion of osteoblasts.
Ptch2 is a functional Shh (Montrer SHH Anticorps) receptor that shares overlapping functions with Ptch1 (Montrer PTCH1 Anticorps) in Smo regulation and limb development.
Ptch1 (Montrer PTCH1 Anticorps)(-/-);Ptch2(-/-) cells cannot further activate the Shh (Montrer SHH Anticorps) response, demonstrating that Ptch2 mediates the response to Shh (Montrer SHH Anticorps) in the absence of Ptch1 (Montrer PTCH1 Anticorps).
Our studies indicate that concomitant loss of Ptch1 (Montrer PTCH1 Anticorps) and Ptch2 activity inhibits epidermal lineage specification and differentiation.
PTCH2 is a direct transcriptional target that antagonizes hedgehog (Montrer SHH Anticorps) signaling in NIH/3T3 cells.
Single-strand conformation polymorphism analysis was used to map mouse Ptch2 to chromosome 4 between the microsatellite markers D4Mit20 and D4Mit334.
Functional compensation by Ptc1 (Montrer PTCH1 Anticorps) might account for the lack of a strong mutant phenotype in Ptc2-deficient mice. Normal Ptc2 function is required for adult skin homeostasis.
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 (Montrer SHH Anticorps) co-receptors patched1 (Montrer PTCH1 Anticorps) 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 (Montrer PTCH1 Anticorps);ptc2 double mutant assigned novel and unexpected functions to the Hh signaling pathway.
Positional cloning of blowout (Montrer PTCH1 Anticorps) identified a nonsense mutation in patched1 (Montrer PTCH1 Anticorps), a negative regulator of the Hedgehog (Montrer SHH Anticorps) pathway, as the underlying cause of the blowout (Montrer PTCH1 Anticorps) phenotype.
Zyxin (Montrer ZYX Anticorps) binding to Ptc2 is due to the interaction of Zyxin (Montrer ZYX Anticorps) 2nd LIM (Montrer PDLIM5 Anticorps)-domain (530-590 aa) with the under-membrane region of the cytoplasmic C-terminus of Ptc2 (1159-1412 aa).
This gene encodes a transmembrane receptor of the patched gene family. The encoded protein may function as a tumor suppressor in the hedgehog signaling pathway. Alterations in this gene have been associated with nevoid basal cell carcinoma syndrome, basal cell carcinoma, medulloblastoma, and susceptibility to congenital macrostomia. Alternatively spliced transcript variants have been described.
patched homolog 2
, protein patched homolog 2
, patched homolog 1
, xptc 2
, patched 1
, protein patched homolog 1