Germline RUNX1 variants in paediatric patients in a French specialised centre
eJHaem, 2023 Familial platelet disorder with associated myeloid malignancy (FPD‐MM; OMIM 601399) is related to germline RUNX1 mutation. The pathogenicity of RUNX1 variants was initially linked to FPD‐MM phenotype, but the discovery of new variants through the ...
Cécile Liu +10 more
doaj +1 more source
Apolipoprotein E gene polymorphisms as risk factors for carotid atherosclerosis [PDF]
Vojnosanitetski Pregled, 2014 Background/Aim. Atherosclerosis is still the leading cause of death in Western world. Development of atherosclerotic plaque involves accumulation of inflammatory cells, lipids, smooth muscle cells and extracellular matrix proteins in the intima ...
Zurnić Irena +5 more
doaj +1 more source
Ethnic differences in adiposity and diabetes risk – insights from genetic studies [PDF]
, 2020 Type 2 diabetes is more common in non-Europeans and starts at a younger age and at lower BMI cut-offs. This review discusses the insights from genetic studies about pathophysiological mechanisms which determine risk of disease with a focus on the role of
Bell, J.D. +7 more
core +2 more sources
A PDCD1 Role in the Genetic Predisposition to NAFLD-HCC?
Cancers, 2021 Simple Summary Many more people are dying each year from primary liver cancers arising in obesity-related fatty liver disease. Often these cancers are a consequence of fatty liver disease progression, with inflammation, scarring and cirrhosis. Less often,
Nardeen Eldafashi +19 more
semanticscholar +1 more source
Unique Features of Germline Variation in Five Egyptian Familial Breast Cancer Families Revealed by Exome Sequencing. [PDF]
PLoS ONE, 2017 Genetic predisposition increases the risk of familial breast cancer. Recent studies indicate that genetic predisposition for familial breast cancer can be ethnic-specific.
Yeong C Kim +10 more
doaj +1 more source
Modifier genes and Lynch syndrome: some considerations
Hereditary Cancer in Clinical Practice, 2022 Lynch Syndrome (LS) is a highly variable entity with some patients presenting at very young ages with malignancy whereas others may never develop a malignancy yet carry an unequivocal genetic predisposition to disease.
Rodney J. Scott
doaj +1 more source
Genetic markers of children asthma: predisposition to disease course variants
Вавиловский журнал генетики и селекции, 2023 Asthma is a heterogeneous and often difficult to treat condition that results in a disproportionate cost to healthcare systems. Children with severe asthma are at increased risk for adverse outcomes including medication-related side effects, life ...
M. V. Smolnikova +3 more
doaj +1 more source
Self-reported cancer family history is a useful tool for identification of individuals at risk of hereditary cancer predisposition syndrome at primary care centers in middle-income settings: a longitudinal study [PDF]
Genetics and Molecular Biology, 2016 Analysis of cancer family history (CFH) offers a low-cost genetic tool to identify familial cancer predisposition. In middle-income settings, the scarcity of individual records and database-linked records hinders the assessment of self-reported CFH ...
Milena Flória-Santos +6 more
doaj +3 more sources
Venous Thromboembolism in Kidney Diseases and Genetic Predisposition
Kidney Diseases, 2022 <b><i>Background:</i></b> Many renal diseases have been associated with profound clinical effects on thrombosis. To our knowledge, patients with nephrotic syndrome (NS) and chronic kidney disease (CKD) display an elevated risk of vein thrombosis, which is among the common causes of mortality in patients with renal diseases.
Tingting Wu, Liang V. Tang, Yu Hu
openaire +3 more sources
Genetic Predisposition and its Heredity in the Context of Increased Prevalence of Dermatophytoses
Mycopathologia, 2021 Dermatophytosis is a widespread disease with high prevalence and a substantial economic burden associated with costs of treatment. The pattern of this infectious disease covers a wide spectrum from exposed individuals without symptoms to those with ...
S. Gnat +2 more
semanticscholar +1 more source