Varaico: Literature-Extracted Genetic Variants

Gene:MYCN
Variant:p.T58M
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MYCN

NM_005378.6:p.T58M

Associated Papers

Somatic DICER1 pathogenic variants detected in a well-differentiated fetal lung adenocarcinoma diagnosed in a man with familial adenomatous polyposis.

Ahmed A et al.

Bjc Reports, 2025

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

Glioblastoma-instructed microglia transition to heterogeneous phenotypic states with phagocytic and dendritic cell-like features in patient tumors and patient-derived orthotopic xenografts.

Yabo YA et al.

Genome Medicine, 2024

38566128 (PubMed )
Supplement: 13073_2024_1321_MOESM1_ESM.xlsx › Table_S1

A recurrent de novo MAX p.Arg60Gln variant causes a syndromic overgrowth disorder through differential expression of c-Myc target genes.

Harris EL et al.

American Journal of Human Genetics, 2024

38141607 (PubMed )
Supplement: mmc3.pdf

MYCN in human development and diseases.

Nishio Y et al.

Frontiers in Oncology, 2024

Glioblastoma-instructed microglia transition to heterogeneous phenotypic states with phagocytic and dendritic cell-like features in patient tumors and patient-derived orthotopic xenografts.

Yabo YA et al.

Biorxiv : the Preprint Server for Biology, 2023

36945572 (PubMed )
Supplement: media-2.pdf

Gain-of-function MYCN causes a megalencephaly-polydactyly syndrome manifesting mirror phenotypes of Feingold syndrome.

Nishio Y et al.

Hgg Advances, 2023

Morphological and Molecular Characteristics in Low Grade Fetal Adenocarcinoma of the Lung: Two Case Reports and Literature Review.

Yanagawa N et al.

International Journal of Surgical Pathology, 2022

Novel genetic characteristics in low-grade fetal adenocarcinoma of the lung.

Zhang S et al.

Thoracic Cancer, 2021

Proximal variants in CCND2 associated with microcephaly, short stature, and developmental delay: A case series and review of inverse brain growth phenotypes.

Pirozzi F et al.

American Journal of Medical Genetics. Part A, 2021

The transcriptional landscape of Shh medulloblastoma.

Skowron P et al.

Nature Communications, 2021

33741928 (PubMed )
Supplement: 41467_2021_21883_MOESM5_ESM.xlsx › _B__Functional_Mutations

MYO5B mutations in pheochromocytoma/paraganglioma promote cancer progression.

Tomić TT et al.

Plos Genetics, 2020

32511227 (PubMed )
Supplement: pgen.1008803.s005.pdf

High-risk blastemal Wilms tumor can be modeled by 3D spheroid cultures in vitro.

Wegert J et al.

Oncogene, 2020

MYCN de novo gain-of-function mutation in a patient with a novel megalencephaly syndrome.

Kato K et al.

Journal of Medical Genetics, 2019

Malignant pheochromocytomas/paragangliomas harbor mutations in transport and cell adhesion genes.

Wilzén A et al.

International Journal of Cancer, 2016

Genetic and chromosomal alterations in Kenyan Wilms Tumor.

Lovvorn HN et al.

Genes, Chromosomes & Cancer, 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."