Varaico: Literature-Extracted Genetic Variants

Gene:DROSHA
Variant:p.E1147K
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DROSHA

NM_001382508.1:p.E1147K

Associated Papers

DICER1 Syndrome: What Do We Know of the Pathogenetic Mechanisms?

Jansen FA et al.

Cancers, 2025

Assessing Microprocessor complex mutations with a Microsensor system.

Bao S et al.

Rna (new York, N.y.), 2025

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_S2

Stratified Medicine Pediatrics: Cell-Free DNA and Serial Tumor Sequencing Identifies Subtype-Specific Cancer Evolution and Epigenetic States.

George SL et al.

Cancer Discovery, 2025

39693475 (PubMed )
Supplement: cd-24-0916_supplementary_table_2_suppst2.xlsx › Sheet1

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

DROSHA Regulates Mesenchymal Gene Expression in Wilms Tumor.

Tiburcio PDB et al.

Molecular Cancer Research : Mcr, 2024

Targeting TRIP13 in favorable histology Wilms tumor with nuclear export inhibitors synergizes with doxorubicin.

Mittal K et al.

Communications Biology, 2024

38589567 (PubMed )
Supplement: 42003_2024_6140_MOESM1_ESM.pdf

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

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

Case Report: Two clinical cases of Wilms tumor comorbid to gingival fibromatosis in young children with constitutionally mutated REST.

Salomatina AS et al.

Frontiers in Oncology, 2023

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

Shukla N et al.

Nature Communications, 2022

35585047 (PubMed )
Supplement: 41467_2022_30233_MOESM7_ESM.xlsx › Supplementary_Data_4

MicroRNAs in kidney development and disease.

Cerqueira DM et al.

Jci Insight, 2022

The DGCR8 E518K mutation found in Wilms tumors leads to a partial miRNA processing defect that alters gene expression patterns and biological processes.

Vardapour R et al.

Carcinogenesis, 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

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

Clinically and biologically relevant subgroups of Wilms tumour defined by genomic and epigenomic analyses.

Brzezinski J et al.

British Journal of Cancer, 2021

33012783 (PubMed )
Supplement: 41416_2020_1102_MOESM7_ESM.xlsx › Sheet1

Structural Basis for pri-miRNA Recognition by Drosha.

Jin W et al.

Molecular Cell, 2020

Regulatory Mechanism of MicroRNA Expression in Cancer.

Ali Syeda Z et al.

International Journal of Molecular Sciences, 2020

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

Murphy AJ et al.

Nature Communications, 2019

Deregulation of Drosha in the pathogenesis of hereditary hemorrhagic telangiectasia.

Hata A et al.

Current Opinion in Hematology, 2019

Loss or oncogenic mutation of DROSHA impairs kidney development and function, but is not sufficient for Wilms tumor formation.

Kruber P et al.

International Journal of Cancer, 2019

The COSMIC Cancer Gene Census: describing genetic dysfunction across all human cancers.

Sondka Z et al.

Nature Reviews. Cancer, 2018

Germline mutations and somatic inactivation of TRIM28 in Wilms tumour.

Halliday BJ et al.

Plos Genetics, 2018

29912901 (PubMed )
Supplement: pgen.1007399.s002.xlsx › Sheet2

The genetic factors contributing to the development of Wilm's tumor and their clinical utility in its diagnosis and prognosis.

Bahrami A et al.

Journal of Cellular Physiology, 2018

Pan-cancer genome and transcriptome analyses of 1,699 paediatric leukaemias and solid tumours.

Ma X et al.

Nature, 2018

29489755 (PubMed )
Supplement: NIHMS939556-supplement-Table_2-7.xlsx › TableS5

A Children's Oncology Group and TARGET initiative exploring the genetic landscape of Wilms tumor.

Gadd S et al.

Nature Genetics, 2017

Genomic imbalances pinpoint potential oncogenes and tumor suppressors in Wilms tumors.

Krepischi ACV et al.

Molecular Cytogenetics, 2016

MLLT1 YEATS domain mutations in clinically distinctive Favourable Histology Wilms tumours.

Perlman EJ et al.

Nature Communications, 2015

26635203 (PubMed )
Supplement: ncomms10013-s1.pdf

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

Hohenstein P et al.

Genes & Development, 2015

Recurrent DGCR8, DROSHA, and SIX homeodomain mutations in favorable histology Wilms tumors.

Walz AL et al.

Cancer Cell, 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

Somatic mutations in DROSHA and DICER1 impair microRNA biogenesis through distinct mechanisms in Wilms tumours.

Rakheja D et al.

Nature Communications, 2014

Recurrent somatic mutation in DROSHA induces microRNA profile changes in Wilms tumour.

Torrezan GT et al.

Nature Communications, 2014

Dysregulation of microRNA biogenesis machinery in cancer.

Hata A et al.

Critical Reviews in Biochemistry and Molecular Biology, 0

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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."