Results 51 to 60 of about 30,623 (153)

Differential expression of PTCH1 in amyotrophic lateral sclerosis.

, 2022
Neurodegenerative diseases that affect the motor neurons, including amyotrophic lateral sclerosis (ALS), have little treatment options and are generally rapidly fatal (1, 2).
Shahan Mamoor
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Patched1 and Patched2 inhibit Smoothened non-cell autonomously

eLife, 2016
Smoothened (Smo) inhibition by Patched (Ptch) is central to Hedgehog (Hh) signaling. Ptch, a proton driven antiporter, is required for Smo inhibition via an unknown mechanism. Hh ligand binding to Ptch reverses this inhibition and activated Smo initiates
Brock Roberts, Catalina Casillas, Astrid C Alfaro, Carina Jägers, Henk Roelink   +4 more
doaj   +1 more source

Multi-layered mutation in hedgehog-related genes in Gorlin syndrome may affect the phenotype. [PDF]

PLoS ONE, 2017
Gorlin syndrome is a genetic disorder of autosomal dominant inheritance that predisposes the affected individual to a variety of disorders that are attributed largely to heterozygous germline patched1 (PTCH1) mutations.
Shoko Onodera, Akiko Saito, Daigo Hasegawa, Nana Morita, Katsuhito Watanabe, Takeshi Nomura, Takahiko Shibahara, Shinsuke Ohba, Akira Yamaguchi, Toshifumi Azuma   +9 more
doaj   +1 more source

Genetic ablation of Gpr37l1 delays tumor occurrence in Ptch1+/- mouse models of medulloblastoma

, 2019
The G-protein coupled receptor 37-like 1 (Gpr37l1) is specifically expressed in most astrocytic glial cells, in- cluding cerebellar Bergmann astrocytes and interacts with patched 1 (Ptch1), a co-receptor of the sonic hedgehog (Shh)-smoothened (Smo ...
Rafaele Matteoni, Glauco P TocchiniValentini, Chiara Di Pietro, Gina La Sala, Daniela Marazziti   +4 more
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Contribution of Genetic Background to the Radiation Risk for Cancer and Non-Cancer Diseases in Ptch1+/- Mice

, 2022
Experimental mouse studies are important to gain a comprehensive, quantitative and mechanistic understanding of the biological factors that modify individual risk of radiation-induced health effects, including age at exposure, dose, dose rate, organ ...
Tanori, M, Novelli, F, Pazzaglia, S, Saran, A, Giardullo, P, De Stefano, I, Leonardi, S, Pasquali, E, Babini, G, Tanno, B, Mancusoa, M, Casciati, A, Antonelli, F   +12 more
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Comparison of PTCH1, COX-2, p53, and Ki-67 protein expression in basal cell carcinomas of nodular and superficial subtypes arising on the head and trunk

, 2016
Background: There is some evidence that basal cell carcinomas (BCCs) arising on different anatomic sites and developing to different histological subtypes differ in their pathophysiology.
Rachel E. Neale, Khalesi, Mohammad, Kimlin, Michael, Neale, Rachel, Cliff Rosendahl, Thomas Pollak, Kimlin, Michael G, Rosendahl, Cliff, Mary Waterhouse, Johns, Richard, Hackett, Timothy, David C. Whiteman, Michael G. Kimlin, Hacker, Elke, Hackett, Tim, Elke Hacker, Neale, Rachel E, Waterhouse, Mary, Timothy Hackett, Pollak, Thomas, Whiteman, David C, Mohammad Khalesi, Richard Johns, Whiteman, David   +23 more
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Review on significance of GDNF, PTCH1 and RNF213 in chromophobe renal cell carcinoma illustrated by the case of 71-years-old man

Polish Journal of Pathology, 2020
Here we review the role of GDNF, PTCH1, RNF213 illustrated by a case of renal cell carcinoma, chromophobe type (pT2a 8th pTNM edition) of the left kidney of 71-year-old man.
Artur Kowalik, Andrzej Wincewicz, Krzysztof Ossoliński, Sebastian Zięba, Janusz Kopczyński, Tadeusz Ossoliński, Stanisław Góźdź, Mariusz Koda, Stanisław Sulkowski   +8 more
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Understanding autism: structural and functional characterization of PTCHD1 [PDF]

Structural Dynamics
Autism (MIM 209850) is a neurodevelopmental condition with heterogeneous aetiology, characterised by restricted interests, repetitive behaviour, and atypical social interaction.
Adrian Goldman, Mimmu K Hiltunen, Orquidea Ribeiro, Natalia Riobo-del Galdo   +3 more
doaj   +1 more source

Intronic splicing mutations in PTCH1 cause Gorlin syndrome

, 2014
© 2014 Springer Science+Business Media Dordrecht.Gorlin syndrome is an autosomal dominant disorder characterized by multiple early-onset basal cell carcinoma, odontogenic keratocysts and skeletal abnormalities.
Bholah, Zaynab, Miles, Emma K., Smith, Miriam J; id_orcid, Evans, D. Gareth; id_orcid, Smith, Miriam J., Byers, Helen J., Newman, William G.; id_orcid   +6 more
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Expression of Gli3 and PTCH1 in gastric tumors compared with normal tissues examined by qRT-PCR.

, 2013
While some tumors expressed higher levels of Gli3 and PTCH1 than normal tissues, the overall expression levels of Gli3 and PTCH1 in tumor tissues, with or without SMO or PTCH1 mutations, are not markedly different from the normal tissues.
Han Chang (101808), Hector Inzunza (101800), Zhenhao Qi (101818), Daniel Malone (101835), John Cogswell (101846), Beihong Hu (101825), Xi-De Wang (42216)   +6 more
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