A woman in her late 20s presented with a 5-year history of progressive fatigue and generalised weakness. Examination revealed signs of premature ageing, anaemia, neuropathy and hepatosplenomegaly.
Being invited to present research at an international academic conference is an honor for any seasoned professional. But for ...
An international team of scientists headed by researchers at the University of Edinburgh, has created a complete map showing how hundreds of possible mutations in a key cancer gene, CTNNB1, influence ...
In mantle cell lymphoma (MCL), an aggressive form of B-cell non-Hodgkin lymphoma, TP53 mutations are known to affect patients’ prognosis—but questions remain. What does the heterogeneity of TP53 ...
Background: There is growing evidence that genetic factors may play a crucial role in the development of ventricular fibrillation (VF) following acute ST-segment elevation myocardial infarction (STEMI ...
Functional and structural impacts of oncogenic missense variants on human polo-like kinase 1 protein
Introduction: The polo-like kinase 1 (PLK1), a master key mitotic regulator, is frequently expressed in various types of cancers and associated with poor prognosis. The missense mutations in PLK1 may ...
Introduction Marfan syndrome (MFS) is an autosomal dominant condition characterised by a wide array of pleiotropic manifestations that affect the cardiovascular, skeletal, ocular and pulmonary systems ...
Revised: This Reviewed Preprint has been revised by the authors in response to the previous round of peer review; the eLife assessment and the public reviews have been updated where necessary by the ...
This paper is part of our larger focus of identifying genetic causes of male infertility. The gene we have studied, DMC1, is known to be important for meiosis, and by extension male and female ...
ABSTRACT: We report the case of a male patient in his early thirties presenting with persistent hypercalcemia and a notable family history of hypercalcemia. Both his mother and brother were diagnosed ...
Relationship Among DNA Damage Response Gene Alterations, Molecular Subtypes, and Survival Outcomes in Patients With Metastatic Bladder Cancer Treated on CALGB 90601 Sequencing data from 56,965 ...
MOE Key Laboratory of Geriatric Diseases and Immunology, Suzhou Key Laboratory of Pathogen Bioscience and Anti-infective Medicine, Department of Bioinformatics and Computational Biology, School of ...
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