Identification ofPATCHED mutations in medulloblastomas by direct sequencing

Role of the Hedgehog/Patched Signaling Pathway in Oncogenesis: A New Polymorphism in the PTCH Gene in Ovarian Fibroma

“…Generally, the most frequent polymorphisms of the PTCH gene are observed on exon 12, in particular 1686C→T 13. This form was also most often detected in our samples: in 1F in both alleles, then in 2F, 6F, 7F and 1D, 6D, 10D, 14 D. The second polymorphism by frequency in the general population14–16 is 1665T→C; it was found in three of our samples: 5F, 9F, and 3D. The third most frequent polymorphism,15 1641C→T, was found in our sample 5D.…”

Role of the Hedgehog/Patched Signaling Pathway in Oncogenesis: A New Polymorphism in the PTCH Gene in Ovarian Fibroma

“…Generally, the most frequent polymorphisms of the PTCH gene are observed on exon 12, in particular 1686C→T 13. This form was also most often detected in our samples: in 1F in both alleles, then in 2F, 6F, 7F and 1D, 6D, 10D, 14 D. The second polymorphism by frequency in the general population14–16 is 1665T→C; it was found in three of our samples: 5F, 9F, and 3D. The third most frequent polymorphism,15 1641C→T, was found in our sample 5D.…”

PTCH1 gene variants rs357564, rs2236405, rs2297086 and rs41313327, mRNA and tissue expression in basal cell carcinoma patients from Western Mexico

“…The rs357564 variant has been broadly analyzed in several clinical conditions 14,15,22,41 . Although no statistical significance was found regarding allele and genotype frequency distribution, the G/A genotype was representative in both study groups (BCC and CG).…”

Multifaceted Functions of Rab23 on Primary Cilium-Mediated and Hedgehog Signaling-Mediated Cerebellar Granule Cell Proliferation

“…Mutations of Shh pathway repressor genes, including Ptch1, Gpr161, and Sufu, commonly lead to the development of medulloblastoma (Dong et al, 2000;Zurawel et al, 2000; Taylor et al, Rab23 also promotes the maintenance of primary cilium on granule cell progenitor. Upon Shh ligand stimulation on the primary cilium, Smo translocates to cilia axoneme, Gli1 expression increased, and Hh signaling is elevated.…”

Role of the Hedgehog/Patched Signaling Pathway in Oncogenesis: A New Polymorphism in the PTCH Gene in Ovarian Fibroma

“…Generally, the most frequent polymorphisms of the PTCH gene are observed on exon 12, in particular 1686C→T 13. This form was also most often detected in our samples: in 1F in both alleles, then in 2F, 6F, 7F and 1D, 6D, 10D, 14 D. The second polymorphism by frequency in the general population14–16 is 1665T→C; it was found in three of our samples: 5F, 9F, and 3D. The third most frequent polymorphism,15 1641C→T, was found in our sample 5D.…”

PTCH1 gene variants rs357564, rs2236405, rs2297086 and rs41313327, mRNA and tissue expression in basal cell carcinoma patients from Western Mexico

“…The rs357564 variant has been broadly analyzed in several clinical conditions 14,15,22,41 . Although no statistical significance was found regarding allele and genotype frequency distribution, the G/A genotype was representative in both study groups (BCC and CG).…”

Multifaceted Functions of Rab23 on Primary Cilium-Mediated and Hedgehog Signaling-Mediated Cerebellar Granule Cell Proliferation

“…Mutations of Shh pathway repressor genes, including Ptch1, Gpr161, and Sufu, commonly lead to the development of medulloblastoma (Dong et al, 2000;Zurawel et al, 2000; Taylor et al, Rab23 also promotes the maintenance of primary cilium on granule cell progenitor. Upon Shh ligand stimulation on the primary cilium, Smo translocates to cilia axoneme, Gli1 expression increased, and Hh signaling is elevated.…”

Role of the Hedgehog/Patched Signaling Pathway in Oncogenesis: A New Polymorphism in the PTCH Gene in Ovarian Fibroma

“…Generally, the most frequent polymorphisms of the PTCH gene are observed on exon 12, in particular 1686C→T 13. This form was also most often detected in our samples: in 1F in both alleles, then in 2F, 6F, 7F and 1D, 6D, 10D, 14 D. The second polymorphism by frequency in the general population14–16 is 1665T→C; it was found in three of our samples: 5F, 9F, and 3D. The third most frequent polymorphism,15 1641C→T, was found in our sample 5D.…”

PTCH1 gene variants rs357564, rs2236405, rs2297086 and rs41313327, mRNA and tissue expression in basal cell carcinoma patients from Western Mexico

“…The rs357564 variant has been broadly analyzed in several clinical conditions 14,15,22,41 . Although no statistical significance was found regarding allele and genotype frequency distribution, the G/A genotype was representative in both study groups (BCC and CG).…”

Multifaceted Functions of Rab23 on Primary Cilium-Mediated and Hedgehog Signaling-Mediated Cerebellar Granule Cell Proliferation

“…Mutations of Shh pathway repressor genes, including Ptch1, Gpr161, and Sufu, commonly lead to the development of medulloblastoma (Dong et al, 2000;Zurawel et al, 2000; Taylor et al, Rab23 also promotes the maintenance of primary cilium on granule cell progenitor. Upon Shh ligand stimulation on the primary cilium, Smo translocates to cilia axoneme, Gli1 expression increased, and Hh signaling is elevated.…”