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Comprehensive molecular characterisation of epilepsy-associated glioneuronal tumours.
(SPRINGER, 2018-01-01)
Glioneuronal tumours are an important cause of treatment-resistant epilepsy. Subtypes of tumour are often poorly discriminated by histological features and may be difficult to diagnose due to a lack of robust diagnostic ...
The role of RAS mutations in MLL-rearranged leukaemia: A path to intervention?
(ELSEVIER, 2017-12-01)
Childhood acute lymphoblastic leukaemia (ALL) with MLL rearrangement (MLL-r) is an aggressive disease still associated with a high mortality rate. Recent investigations have identified co-operating mutations in the RAS ...
Possible role of pandemic AH1N1 swine flu virus in a childhood leukemia cluster
(Springer Science and Business Media LLC, 2017-08-01)
Immuno-PET in Pontine Glioma: More Than Meets the Eye?
(SOC NUCLEAR MEDICINE INC, 2018-04-01)
Targeting the Vulnerability of RB Tumor Suppressor Loss in Triple-Negative Breast Cancer.
(CELL PRESS, 2018-01-30)
Approximately 30% of triple-negative breast cancers (TNBCs) exhibit functional loss of the RB tumor suppressor, suggesting a target for precision intervention. Here, we use drug screens to identify agents specifically ...
Glycogen synthase kinase 3 controls migration of the neural crest lineage in mouse and Xenopus.
(NATURE PUBLISHING GROUP, 2018-03-19)
Neural crest migration is critical to its physiological function. Mechanisms controlling mammalian neural crest migration are comparatively unknown, due to difficulties accessing this cell population in vivo. Here we report ...
Whole-genome sequencing of multiple myeloma reveals oncogenic pathways are targeted somatically through multiple mechanisms.
(NATURE PUBLISHING GROUP, 2018-11-01)
Multiple myeloma (MM) is a biologically heterogeneous malignancy, however, the mechanisms underlying this complexity are incompletely understood. We report an analysis of the whole-genome sequencing of 765 MM patients from ...
Three-dimensional cardiovascular imaging-genetics: a mass univariate framework.
(OXFORD UNIV PRESS, 2018-01-01)
MOTIVATION: Left ventricular (LV) hypertrophy is a strong predictor of cardiovascular outcomes, but its genetic regulation remains largely unexplained. Conventional phenotyping relies on manual calculation of LV mass and ...
Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen's Inherited Cardiomyopathy Expert Panel.
(NATURE PUBLISHING GROUP, 2018-03-01)
PurposeIntegrating genomic sequencing in clinical care requires standardization of variant interpretation practices. The Clinical Genome Resource has established expert panels to adapt the American College of Medical ...
CardioClassifier: disease- and gene-specific computational decision support for clinical genome interpretation.
(NATURE PUBLISHING GROUP, 2018-10-01)
PURPOSE: Internationally adopted variant interpretation guidelines from the American College of Medical Genetics and Genomics (ACMG) are generic and require disease-specific refinement. Here we developed CardioClassifier ...