Results 81 to 90 of about 30,623 (153)
CellsMedulloblastoma (MB) is a common primary brain cancer in children. The sonic hedgehog (SHH) pathway is indispensable for the normal development of the cerebellum, and MB is often caused by persistent SHH activation owing to mutations in pathway ...
Barbara Tanno +6 more
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Differentially Modulated Ptch1 Action in Dhcr7 –/– and Sc5d –/– MEFs
, 2013 (A) Basal Gli reporter activity measured in MEFs either deficient for Sc5d or Dhcr7 shows that the stacking of 7-DHC (in the Dhcr7–/– MEFs) lowers Gli activity in the mutant cells compared with lathosterol stacking in the Sc5d–/– MEFs.
Sandra van de Water (5654098) +5 more
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, 2014 International audienceInsertions are rare chromosomal rearrangements resulting from a three breaks mechanism. The risk of chromosomal imbalance in the offspring is estimated to be 15-50%.
Belaud-Rotureau, Marc-Antoine +11 more
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Gorlin's Syndrome: Case Report and Management Protocol
Balkan Journal of Medical Genetics, 2009 Rosti R, Irem A, Kayserili H, Yalcin S
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Expression of Gli3 and PTCH1 mRNA in gastric tumors with SMO mutations.
, 2013 Scatter plots for Gli3 and PTCH1, two hedgehog pathway down-stream genes expressed at relatively higher levels are shown according to their SMO mutations. Expression values have been RMA normalized and presented as log value.
Han Chang (101808) +6 more
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Functional Analysis of the 5' Untranslated Region of the PTCH1 gene, transcript variant 1b [PDF]
, 2013 PTCH1 gene is one of the main members of the Hedgehog-Gli signaling pathway. In the 5' untranslated region (5' UTR) of PTCH1 transcript 1b, a CGG-repeat polymorphism was found close to the translation initiation site.
Ozretić, Petar
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PTCH1-mutant human cerebellar organoids exhibit altered neural development and recapitulate early medulloblastoma tumorigenesis [PDF]
Patched 1 (PTCH1) is the primary receptor for the sonic hedgehog (SHH) ligand and negatively regulates SHH signalling, an essential pathway in human embryogenesis.
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A simple and scalable zebrafish model of Sonic hedgehog medulloblastoma
Cell ReportsSummary: Medulloblastoma (MB) is the most common malignant brain tumor in children and is stratified into three major subgroups. The Sonic hedgehog (SHH) subgroup represents ∼30% of all MB cases and has significant survival disparity depending upon TP53 ...
Mattie J. Casey +7 more
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Characterizing the Structure and Function of the Cytoplasmic Domains of Ptch1 [PDF]
, 2016 The Hedgehog (Hh)-pathway is a critical signalling cascade that determines cell fate and is required for embryonic and postnatal development. A central component of this molecular-genetic pathway is the receptor for the Hh-ligands, Patched-1 (Ptch1), a ...
Lee, Jennifer PY
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Ptch1 and Gli regulate Shh signalling dynamics via multiple mechanisms
, 2020 In the vertebrate neural tube, the morphogen Sonic Hedgehog (Shh) establishes a characteristic pattern of gene expression. Here we quantify the Shh gradient in the developing mouse neural tube and show that while the amplitude of the gradient increases ...
Karen M Page (8344737) +6 more
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