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   Articles with "ptch1" as a keyword



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Unexpected phenotype in a frameshift mutation of PTCH1

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recommendations! Published in 2019 at "Molecular Genetics & Genomic Medicine"

DOI: 10.1002/mgg3.987

Abstract: Gorlin syndrome, also known as basal cell nevus syndrome (BCNS), is a rare autosomal dominant genetic condition, characterized by the presence of multiple basal cell carcinomas at a young age, odontogenic keratocysts, skeletal anomalies, macrocephaly,… read more here.

Keywords: phenotype; ptch1; unexpected phenotype; mutation ptch1 ... See more keywords
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Structural basis for catalyzed assembly of the Sonic hedgehog-Patched1 signaling complex.

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recommendations! Published in 2022 at "Developmental cell"

DOI: 10.1016/j.devcel.2022.02.008

Abstract: The dually lipidated Sonic hedgehog (SHH) morphogen signals through the tumor suppressor membrane protein Patched1 (PTCH1) to activate the Hedgehog pathway, which is fundamental in development and cancer. SHH engagement with PTCH1 requires the GAS1… read more here.

Keywords: ptch1; patched1; shh ptch1; sonic hedgehog ... See more keywords
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Heterozygous mutation of sonic hedgehog receptor (Ptch1) drives cerebellar overgrowth and sex-specifically alters hippocampal and cortical layer structure, activity, and social behavior in female mice.

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recommendations! Published in 2020 at "Neurotoxicology and teratology"

DOI: 10.1016/j.ntt.2020.106866

Abstract: Sonic hedgehog (SHH) signaling is essential for the differentiation and migration of early stem cell populations during cerebellar development. Dysregulation of SHH-signaling can result in cerebellar overgrowth and the formation of the brain tumor medulloblastoma.… read more here.

Keywords: ptch1; shh; social behavior; cerebellar overgrowth ... See more keywords
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Generation of a homozygous CRISPR/Cas9-mediated knockout human iPSC line for PTCH1 gene.

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recommendations! Published in 2021 at "Stem cell research"

DOI: 10.1016/j.scr.2021.102517

Abstract: 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. Here, we… read more here.

Keywords: ptch1; ipsc line; crispr cas9;
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Induced MiR‐1249 expression by aberrant activation of Hedegehog signaling pathway in hepatocellular carcinoma

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recommendations! Published in 2017 at "Experimental Cell Research"

DOI: 10.1016/j.yexcr.2017.03.010

Abstract: ABSTRACT Aberrant activations of Hedegehog (Hh) signaling were found in hepatocellular carcinoma (HCC) and some other cancer types. However, the details have not been completely understood and the underlying mechanism remains unclear. Here we reported… read more here.

Keywords: hcc; hedegehog signaling; ptch1; signaling pathway ... See more keywords
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Autophagic Flux Is Regulated by Interaction Between the C-terminal Domain of PATCHED1 and ATG101

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recommendations! Published in 2018 at "Molecular Cancer Research"

DOI: 10.1158/1541-7786.mcr-17-0597

Abstract: The Hedgehog (Hh) receptor Patched1 (PTCH1) is a well-known tumor suppressor that in its active form represses Smoothened (SMO) activity, inhibits proliferation, and induces apoptosis. The cytoplasmic C-terminal domain (CTD) regulates PTCH1 turnover and nucleates… read more here.

Keywords: ptch1; autophagic flux; flux; terminal domain ... See more keywords
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Targeting APP/AICD in Down syndrome.

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recommendations! Published in 2017 at "Oncotarget"

DOI: 10.18632/oncotarget.18860

Abstract: Down syndrome (DS), a genetic disorder caused by triplication of chromosome 21, is unavoidably associated with intellectual disability due to earlyoccurring alterations of brain development. No therapies currently exist for intellectual disability in DS. Although… read more here.

Keywords: app aicd; ptch1; dentate gyrus; targeting app ... See more keywords
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Co-expression analysis revealed PTCH1-3'UTR promoted cell migration and invasion by activating miR-101-3p/SLC39A6 axis in non-small cell lung cancer: implicating the novel function of PTCH1

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recommendations! Published in 2018 at "Oncotarget"

DOI: 10.18632/oncotarget.23219

Abstract: Metastasis is the most common cause of mortality for non-small cell lung cancer (NSCLC). PTCH1, a receptor of Hedgehog (Hh) pathway, is reported to suppress cell proliferation. Interestingly, our previous study showed PTCH1 silencing promoted… read more here.

Keywords: mir 101; ptch1; cell migration; ptch1 utr ... See more keywords
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Partial Truncation of the C-Terminal Domain of PTCH1 in Cancer Enhances Autophagy and Metabolic Adaptability

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recommendations! Published in 2023 at "Cancers"

DOI: 10.3390/cancers15020369

Abstract: Simple Summary We have recently reported that the cytosolic C-terminal domain (CTD) of the tumour suppressor PTCH1, the Hedgehog proteins receptor, interacts with the autophagy-related protein ATG101 and impairs autophagic flux. In this study, we… read more here.

Keywords: interaction; terminal domain; autophagic flux; ptch1 cancer ... See more keywords