Results 11 to 20 of about 30,623 (153)

Nevoid Basal Cell Carcinoma Syndrome: PTCH1 Mutation Profile and Expression of Genes Involved in the Hedgehog Pathway in Argentinian Patients

Cells, 2019
Nevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominant disorder characterized by multiple basal cell carcinomas (BCC), mainly caused by PTCH1 gene mutations.
Maria Florencia Martinez, Maria Vanesa Romano, Alfredo Pedro Martinez, Abel González, Carolina Muchnik, Fernando Miguel Stengel, Luis Daniel Mazzuoccolo, Pablo Javier Azurmendi   +7 more
doaj   +2 more sources

Immunohistochemical Expression of PTCH1 and Laminin in Oral Hyperplastic, Premalignant, Squamous Cell Carcinoma and Recurrence Lesions Samples [PDF]

Sulaimani Dental Journal, 2019
Objective: Laminin is a basal membrane glycoprotein that showed progressive loss of continuity from dysplasia to invasive carcinoma. The membranous receptor Patched (PTCH1) promotes the nuclear translocation and activation of the Gli family proteins.
Kanar Hamaamin, Falah Hussein, Dena Mohammad   +2 more
doaj   +3 more sources

Nos2 inactivation promotes the development of medulloblastoma in Ptch1(+/-) mice by deregulation of Gap43-dependent granule cell precursor migration. [PDF]

PLoS Genetics, 2012
Medulloblastoma is the most common malignant brain tumor in children. A subset of medulloblastoma originates from granule cell precursors (GCPs) of the developing cerebellum and demonstrates aberrant hedgehog signaling, typically due to inactivating ...
Daniel Haag, Petra Zipper, Viola Westrich, Daniela Karra, Karin Pfleger, Grischa Toedt, Frederik Blond, Nicolas Delhomme, Meinhard Hahn, Julia Reifenberger, Guido Reifenberger, Peter Lichter   +11 more
doaj   +1 more source

Integral Membrane Protein 2A Is a Negative Regulator of Canonical and Non-Canonical Hedgehog Signalling

Cells, 2021
The Hedgehog (Hh) receptor PTCH1 and the integral membrane protein 2A (ITM2A) inhibit autophagy by reducing autolysosome formation. In this study, we demonstrate that ITM2A physically interacts with PTCH1; however, the two proteins inhibit autophagic ...
Cintli C. Morales-Alcala, Ioanna Ch. Georgiou, Alex J. Timmis, Natalia A. Riobo-Del Galdo   +3 more
doaj   +1 more source

Generation of a homozygous CRISPR/Cas9-mediated knockout human iPSC line for PTCH1 gene

Stem Cell Research, 2021
PTCH1 is the receptor protein of Hedgehog signaling pathway, and Hedgehog pathway plays a vital role in mammalian embryonic development. However, the specific biological role of PTCH1 is incompletely understood for embryonic development.
Bailing Zu, Xiaoqing Zhang, Guoling You, Qihua Fu   +3 more
doaj   +1 more source

Identification of rare PTCH1 nonsense variant causing orofacial cleft in a Chinese family and an up-to-date genotype-phenotype analysis

Genes and Diseases, 2021
The Patched 1 (PTCH1) gene encodes a membrane receptor involved in the Hedgehog (Hh) signaling pathway, an abnormal state of which may result in congenital defects or human tumors.
Wenjie Zhong, Huaxiang Zhao, Wenbin Huang, Mengqi Zhang, Qian Zhang, Yue Zhang, Chong Chen, Zulihumaer Nueraihemaiti, Dilifeire Tuerhong, Huizhe Huang, Gulibaha Maimaitili, Feng Chen, Jiuxiang Lin   +12 more
doaj   +1 more source

Tumor Growth in the High Frequency Medulloblastoma Mouse Model Ptch1+/−/Tis21KO Has a Specific Activation Signature of the PI3K/AKT/mTOR Pathway and Is Counteracted by the PI3K Inhibitor MEN1611

Frontiers in Oncology, 2021
We have previously generated a mouse model (Ptch1+/−/Tis21KO), which displays high frequency spontaneous medulloblastoma, a pediatric tumor of the cerebellum. Early postnatal cerebellar granule cell precursors (GCPs) of this model show, in consequence of
Manuela Ceccarelli, Giorgio D’Andrea, Laura Micheli, Giulia Gentile, Sebastiano Cavallaro, Giuseppe Merlino, Giuliana Papoff, Felice Tirone   +7 more
doaj   +1 more source

Evasion of Cell Senescence Leads to Medulloblastoma Progression

Cell Reports, 2016
How brain tumors progress from precancerous lesions to advanced cancers is not well understood. Using Ptch1+/− mice to study medulloblastoma progression, we found that Ptch1 loss of heterozygosity (LOH) is an early event that is associated with high ...
Lukas Tamayo-Orrego, Chia-Lun Wu, Nicolas Bouchard, Ahmed Khedher, Shannon M. Swikert, Marc Remke, Patryk Skowron, Michael D. Taylor, Frédéric Charron   +8 more
doaj   +1 more source

Reconstruction of the gene regulatory network involved in the sonic hedgehog pathway with a potential role in early development of the mouse brain. [PDF]

PLoS Computational Biology, 2014
The Sonic hedgehog (Shh) signaling pathway is crucial for pattern formation in early central nervous system development. By systematically analyzing high-throughput in situ hybridization data of E11.5 mouse brain, we found that Shh and its receptor Ptch1
Jinhua Liu, Xuelong Wang, Juan Li, Haifang Wang, Gang Wei, Jun Yan   +5 more
doaj   +1 more source

Regulation of Cholesterol Binding to the Receptor Patched1 by its interactions With the Ligand Sonic Hedgehog (Shh)

Frontiers in Molecular Biosciences, 2022
The Hedgehog (Hh) signaling pathway is essential in cell development and regeneration, which is activated by the ligand Sonic hedgehog (Shh). The binding of Shh to its receptor Patched1 (PTCH1) releases the inhibitory effect on the downstream protein ...
Changqing Zhong, Beibei Wang
doaj   +1 more source