Concept
Germline mutation
Publications associées (103)
The role of LRRK2 in lung adenocarcinoma
Lung cancer is the leading cause of cancer-related deaths worldwide and the most commonlung cancer subtype is lung adenocarcinoma (LUAD). Frequently mutated genes involveactivating mutations in KRAS and loss of function mutations in TP53. LUADs primarily a ...
EPFL2024Inheritance of H3K9 methylation regulates genome architecture in Drosophila early embryos
Constitutive heterochromatin is essential for transcriptional silencing and genome integrity. The establishment of constitutive heterochromatin in early embryos and its role in early fruitfly development are unknown. Lysine 9 trimethylation of histone H3 ( ...
Springernature2024Mutation-Attention (MuAt): deep representation learning of somatic mutations for tumour typing and subtyping
Background: Cancer genome sequencing enables accurate classification of tumours and tumour subtypes. However, prediction performance is still limited using exome-only sequencing and for tumour types with low somatic mutation burden such as many paediatri ...
2023Reanalysis of mtDNA mutations of human primordial germ cells (PGCs) reveals NUMT contamination and suggests that selection in PGCs may be positive
The resilience of the mitochondrial genome (mtDNA) to a high mutational pressure depends, in part, on negative purifying selection in the germline. A paradigm in the field has been that such selection, at least in part, takes place in primordial germ cells ...
London2023The integrated stress response contributes to tRNA synthetase-associated peripheral neuropathy
Dominant mutations in ubiquitously expressed transfer RNA (tRNA) synthetase genes cause axonal peripheral neuropathy, accounting for at least six forms of Charcot-Marie-Tooth (CMT) disease. Genetic evidence in mouse and Drosophila models suggests a gain-of ...
AMER ASSOC ADVANCEMENT SCIENCE2021Somatic Mitochondrial DNA Point Mutations Used as Biomarkers to Demonstrate Genomic Heterogeneity in Primary Prostate Cancer
Paul Refinetti, Per Olaf Ekstrom
Primary prostate tumor heterogeneity is poorly understood, leaving research efforts with challenges regarding the initiation and advancement of the disease. The growth of tumor cells is accompanied by mutations in nuclear and in mitochondrial genomes. Thus ...
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