Varaico: Literature-Extracted Genetic Variants

Gene:SIX1
Variant:p.Q177R
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SIX1

NM_005982.4:p.Q177R

Associated Papers

Integrative Multiomics and Drug Sensitivity Profiling Reveal Potential Biomarkers and Therapeutic Strategies in Pediatric Solid Tumors.

ElHarouni D et al.

Cancer Research, 2026

Distinct pathways for genetic and epigenetic predisposition in familial and bilateral Wilms tumor.

Wegert J et al.

Genome Medicine, 2025

40340749 (PubMed )
Supplement: 13073_2025_1482_MOESM1_ESM.xlsx › Table_S3

Wilms tumor primary cultures capture phenotypic heterogeneity and facilitate preclinical screening.

Götz L et al.

Translational Oncology, 2025

39740515 (PubMed )
Supplement: mmc6.xlsx › Wilms_tumor_cultures

Phosphorylation determines the glucose metabolism reprogramming and tumor-promoting activity of sine oculis homeobox 1.

Lin Y et al.

Signal Transduction and Targeted Therapy, 2024

Genetic and epigenetic features of bilateral Wilms tumor predisposition in patients from the Children's Oncology Group AREN18B5-Q.

Murphy AJ et al.

Nature Communications, 2023

38110397 (PubMed )
Supplement: 41467_2023_43730_MOESM5_ESM.xlsx › COG

Altered binding affinity of SIX1-Q177R correlates with enhanced WNT5A and WNT pathway effector expression in Wilms tumor.

Stevenson MJ et al.

Disease Models & Mechanisms, 2023

A biobank of pediatric patient-derived-xenograft models in cancer precision medicine trial MAPPYACTS for relapsed and refractory tumors.

Marques Da Costa ME et al.

Communications Biology, 2023

37723198 (PubMed )
Supplement: 42003_2023_5320_MOESM4_ESM.xlsx › Suppl._Data_1

Genomics-Driven Precision Medicine in Pediatric Solid Tumors.

Suthapot P et al.

Cancers, 2023

WILMS TUMOR MUTATIONAL SUBCLASSES CONVERGE TO DRIVE CCND2 OVEREXPRESSION.

Xu L et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

36778325 (PubMed )
Supplement: media-4.xlsx › Sheet1

Genetic changes associated with relapse in favorable histology Wilms tumor: A Children's Oncology Group AREN03B2 study.

Gadd S et al.

Cell Reports. Medicine, 2022

Feasibility of whole genome and transcriptome profiling in pediatric and young adult cancers.

Shukla N et al.

Nature Communications, 2022

MYCN and MAX alterations in Wilms tumor and identification of novel N-MYC interaction partners as biomarker candidates.

Jiménez Martín O et al.

Cancer Cell International, 2021

34689785 (PubMed )
Supplement: 12935_2021_2259_MOESM6_ESM.xlsx › Table_S1

DEVOLUTION-A method for phylogenetic reconstruction of aneuploid cancers based on multiregional genotyping data.

Andersson N et al.

Communications Biology, 2021

34545199 (PubMed )
Supplement: 42003_2021_2637_MOESM4_ESM.zip › Supplementary_data_1_Segment_files.xlsx › WT

Analysis of the mutational status of SIX1/2 and microRNA processing genes in paired primary and relapsed Wilms tumors and association with relapse.

Ciceri S et al.

Cancer Gene Therapy, 2021

Embryonic Kidney Development, Stem Cells and the Origin of Wilms Tumor.

Li H et al.

Genes, 2021

Forty-five patient-derived xenografts capture the clinical and biological heterogeneity of Wilms tumor.

Murphy AJ et al.

Nature Communications, 2019

MYC gene associated polymorphisms and Wilms tumor risk in Chinese children: a four-center case-control study.

Liu J et al.

Annals of Translational Medicine, 2019

Chromosomal anomalies at 1q, 3, 16q, and mutations of SIX1 and DROSHA genes underlie Wilms tumor recurrences.

Spreafico F et al.

Oncotarget, 2016

The yin and yang of kidney development and Wilms' tumors.

Hohenstein P et al.

Genes & Development, 2015

Mutations in the SIX1/2 pathway and the DROSHA/DGCR8 miRNA microprocessor complex underlie high-risk blastemal type Wilms tumors.

Wegert J et al.

Cancer Cell, 2015

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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."