Varaico: Literature-Extracted Genetic Variants

Gene:SMO
Variant:p.D473H
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SMO

NM_005631.5:p.D473H

Associated Papers

Phase II Study of Vismodegib in Patients With SMO- or PTCH1-Mutated Tumors: Results From the National Cancer Institute Molecular Analysis for Therapy Choice Eastern Cooperative Oncology Group-American College of Radiology Imaging Network Trial (EAY131) Subprotocol T.

Tsao AS et al.

Jco Precision Oncology, 2025

41066729 (PubMed )
Supplement: protocol2_PO-25-00119.pdf

Hedgehog signalling pathway inhibitors in the treatment of basal cell carcinoma: an updated review.

Markota Cagalj A et al.

Journal of Drug Targeting, 2025

Imperatorin Suppresses Aberrant Hedgehog Pathway and Overcomes Smoothened Antagonist Resistance via STAT3 Inhibition.

Wang J et al.

Drug Design, Development and Therapy, 2024

Molecular Mechanisms and Targeted Therapies of Advanced Basal Cell Carcinoma.

Hoashi T et al.

International Journal of Molecular Sciences, 2022

Towards Precision Oncology: The Role of Smoothened and Its Variants in Cancer.

Nicheperovich A et al.

Journal of Personalized Medicine, 2022

Sonic Hedgehog Signaling in Cerebellar Development and Cancer.

Wang W et al.

Frontiers in Cell and Developmental Biology, 2022

Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.

Hescheler DA et al.

Frontiers in Endocrinology, 2021

34630336 (PubMed )
Supplement: Table_1.xlsx › Tab2

Secondary Resistant Mutations to Small Molecule Inhibitors in Cancer Cells.

Hamid AB et al.

Cancers, 2020

32283832 (PubMed )
Supplement: cancers-12-00927-s001.pdf

Molecular basis of drug resistance in smoothened receptor: An in silico study of protein resistivity and specificity.

Sinha N et al.

Proteins, 2020

The Immunogenic Potential of Recurrent Cancer Drug Resistance Mutations: An In Silico Study.

Punta M et al.

Frontiers in Immunology, 2020

33133066 (PubMed )
Supplement: Table_1.xlsx › Resistance-no-BCR-ABL1

Principles of tumorigenesis and emerging molecular drivers of SHH-activated medulloblastomas.

Menyhárt O et al.

Annals of Clinical and Translational Neurology, 2019

Integrative omics analyses broaden treatment targets in human cancer.

Sengupta S et al.

Genome Medicine, 2018

30053901 (PubMed )
Supplement: 13073_2018_564_MOESM2_ESM.xlsx › 3

A computational study of hedgehog signalling involved in basal cell carcinoma reveals the potential and limitation of combination therapy.

Buetti-Dinh A et al.

Bmc Cancer, 2018

Improved EGFR mutation detection using combined exosomal RNA and circulating tumor DNA in NSCLC patient plasma.

Krug AK et al.

Annals of Oncology : Official Journal of the European Society for Medical Oncology, 2018

29216356 (PubMed )
Supplement: mdx765_suppl_data.zip › mdx765_supp_s2.pdf

Recurrent extraneural sonic hedgehog medulloblastoma exhibiting sustained response to vismodegib and temozolomide monotherapies and inter-metastatic molecular heterogeneity at progression.

Petrirena GJ et al.

Oncotarget, 2018

Crystal structure of a multi-domain human smoothened receptor in complex with a super stabilizing ligand.

Zhang X et al.

Nature Communications, 2017

28513578 (PubMed )
Supplement: ncomms15383-s1.pdf

Shh and p50/Bcl3 signaling crosstalk drives pathogenesis of BCCs in Gorlin syndrome.

Chaudhary SC et al.

Oncotarget, 2015

Gorlin syndrome and desmoplastic medulloblastoma: Report of 3 cases with unfavorable clinical course and novel mutations.

Gururangan S et al.

Pediatric Blood & Cancer, 2015

Genomic analysis of smoothened inhibitor resistance in basal cell carcinoma.

Sharpe HJ et al.

Cancer Cell, 2015

Smoothened variants explain the majority of drug resistance in basal cell carcinoma.

Atwood SX et al.

Cancer Cell, 2015

Smoothened (SMO) receptor mutations dictate resistance to vismodegib in basal cell carcinoma.

Pricl S et al.

Molecular Oncology, 2015

Akt kinase-interacting protein1, a novel therapeutic target for lung cancer with EGFR-activating and gatekeeper mutations.

Yamada T et al.

Oncogene, 2013

Matching mice to malignancy: molecular subgroups and models of medulloblastoma.

Lau J et al.

Child's Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery, 2012

Small molecule antagonists in distinct binding modes inhibit drug-resistant mutant of smoothened.

Tao H et al.

Chemistry & Biology, 2011

Small molecule inhibition of GDC-0449 refractory smoothened mutants and downstream mechanisms of drug resistance.

Dijkgraaf GJ et al.

Cancer Research, 2011

Smoothened mutation confers resistance to a Hedgehog pathway inhibitor in medulloblastoma.

Yauch RL et al.

Science (new York, N.y.), 2009

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."