Varaico: Literature-Extracted Genetic Variants

Gene:PTCH1
Variant:p.C727delFs
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PTCH1

NM_000264.5:p.C727delFs

Associated Papers

GDC-0449 suppresses odontogenic keratocyst aggressiveness in fibroblasts by upregulating SPARC via Hedgehog pathway inhibition.

Qu J et al.

Archives of Oral Biology, 2025

Gorlin-Goltz syndrome with familial manifestation.

Pazdera J et al.

Biomedical Papers of the Medical Faculty of the University Palacky, Olomouc, Czechoslovakia, 2022

Gorlin Syndrome: Recent Advances in Genetic Testing and Molecular and Cellular Biological Research.

Onodera S et al.

International Journal of Molecular Sciences, 2020

33066274 (PubMed )
Supplement: ijms-21-07559-s001.pdf

New mutations and an updated database for the patched-1 (PTCH1) gene.

Reinders MG et al.

Molecular Genetics & Genomic Medicine, 2018

Heterozygous PTCH1 Mutations Impact the Bone Metabolism in Patients With Nevoid Basal Cell Carcinoma Syndrome Likely by Regulating SPARC Expression.

Hong Y et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2016

The large intracellular loop of ptch1 mediates the non-canonical Hedgehog pathway through cyclin B1 in nevoid basal cell carcinoma syndrome.

Yu FY et al.

International Journal of Molecular Medicine, 2014

PTCH1 gene mutations in Keratocystic odontogenic tumors: a study of 43 Chinese patients and a systematic review.

Guo YY et al.

Plos One, 2013

24204797 (PubMed )
Supplement: pone.0077305.s001.docx

Mechanisms of inactivation of PTCH1 gene in nevoid basal cell carcinoma syndrome: modification of the two-hit hypothesis.

Pan S et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2010

Identification of known and novel PTCH mutations in both syndromic and non-syndromic keratocystic odontogenic tumors.

Pan S et al.

International Journal of Oral Science, 2009

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