Results 1 to 10 of about 88,056,303 (299)

Genetic predisposition to Behcet's disease mediated by a IL10RA enhancer polymorphism

Heliyon
Background: Several studies suggested the genetic association between IL10RA variants and susceptibility to Behcet's disease (BD). However, the precise mechanism of the association is still unknown.
Handan Tan, Zhenyu Zhong, Xiaojie Feng, Xiang Luo, Qingfeng Cao, Peizeng Yang   +5 more
doaj   +3 more sources

Physical activity, genetic predisposition, and incident cardiovascular disease: Prospective analyses of the UK Biobank [PDF]

Journal of Sport and Health Science
Background: It is unclear whether physical activity can benefit participants with high genetic predisposition to cardiovascular disease. We examined the joint associations of intensity-specific physical activity and genetic predisposition (based on ...
Matthew N. Ahmadi, Hamish D. Mundell, Greg T. Sutherland, Mark Hamer, Elina Sillanpää, Joanna M. Blodgett, Borja del Pozo Cruz, Emmanuel Stamatakis   +7 more
doaj   +5 more sources

Recent Advances in Diagnostic and Surveillance Strategies for Childhood Cancer Predisposition Syndromes

Clinical Pediatric Hematology-Oncology, 2023
Cancer predisposition syndromes (CPS) are a group of genetic disorders that increase the risk of developing various types of cancer. The prevalence of CPS in children has been known to be up to 18-20% based on recent reports.
Jae Won Yoo
doaj   +1 more source

OBESITY AND DYSLIPIDEMIA IN CHILDREN WITH CHRONIC HEPATITIS [PDF]

Romanian Journal of Pediatrics, 2016
Chronic hepatitis association with various types of dyslipidemia is a reality not only for the obese pediatric patient, in which we expect to find hypercholesterolemia and / or hypertriglyceridemias, but also for normal weight children with hepatitis ...
Alice N. Azoicai, Bogdan A. Stana, Paula Popovici, Ileana K. Ioniuc, Monica M. Alexoae, Irina Criscov, Alina M. Murgu, Evelina Moraru   +7 more
doaj   +1 more source

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, Paola Ballerini, Guillaume Nguyen, Zoia Mincheva, Bruno Copin, Boutheina Bouslama, Guy Leverger, Arnaud Petit, Rémi Favier, Hélène Lapillonne, Hélène Boutroux   +10 more
doaj   +1 more source

Genetic risk variants in intestinal inflammatory disorders [PDF]

, 2010
PhDThis thesis includes work on the genetics of intestinal inflammatory disorders, concentrating on coeliac disease and Crohn’s disease. It explores how common genetic variants influence risk of complex phenotypes including immunological intolerance to
Dubois, Patrick Charles Alexander
core   +4 more sources

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, Đurić Tamara, Končar Igor, Stanković Aleksandra, Dinčić Dragan, Živković Maja   +5 more
doaj   +1 more source

Genetic Predisposition to Thrombophilia in Inflammatory Bowel Disease [PDF]

Journal of Clinical Gastroenterology, 2011
Inflammatory bowel disease (IBD) is linked to a definite risk of thromboembolic events (TE), but data on the role of prothrombotic genetic mutations are conflicting.Fourteen genetic factors involved in TE pathogenesis were investigated in a homogeneous cohort of Sicilian patients with IBD with and without history of TE and in healthy controls.
Cappello, M, GRIMAUDO, Stefania, BRAVATA', Ivana, RANDAZZO, Claudia, PIPITONE, Rosaria Maria, LICATA, Anna, CAMMA', Calogero, CRAXI, Antonio   +7 more
openaire   +3 more sources

Genetic Predisposition to Infectious Disease [PDF]

Cureus, 2018
In contemporary medical practice, approaches to infectious disease management have been primarily rooted in a pathogen-centered model. However, host genetics also contribute significantly to infectious disease burden. The fast expansion of bioinformatics techniques and the popularization of the genome-wide association study (GWAS) in recent decades ...
openaire   +2 more sources

Observing Huntington's disease: the European Huntington's Disease Network's REGISTRY. [PDF]

, 2010
The unparalleled collection of clinical data and biomaterials within the EHDN's REGISTRY can expedite the search for disease modifiers (genetic and environmental) of age at onset and disease progression that could be harnessed for the development of ...
Handley, Olivia J, Landwehrmeyer, G Bernhard, Aileen K Ho, Bisson, Jonathan Ian, Schwenke C, David Craufurd, Dunnett, Stephen B., Handley, Olivia, Investigators of the European Huntington's Disease Network, The, DI MARIA, EMILIO, Craufurd D, Dunnett, SB, Carsten Schwenke, the investigators of the European Huntington's Disease Network, Craufurd, David, Edward Wild, Landwehrmeyer, GB, Busse, Monica, Rosser, Anne Elizabeth, Olivia J Handley, Romano Silvia., Tabrizi SJ, Ho, Aileen K., Wild, E, Landwehrmeyer GB, Craufurd, D, Tabrizi, SJ, Tabrizi, Sarah J., Handley, OJ, Rickards, Hugh, Dunnett, Stephen, Ho, Aileen K, Orth, Michael, Ho, AK, Wild, Edward, Stephen B. Dunnett, Sarah J Tabrizi, Wild, EJ, Landwehrmeyer, G. Bernhard, Naji, Jenny, Landwehrmeyer, G. Bernhard, Wild E, Investigators of the European Huntington's Disease Network, Handley, Olivia J., Orth, M, Ellison-Rose, Lynda, Tabrizi, Sarah J, Price, Kathleen, Ho AK, ABBRUZZESE, GIOVANNI, Schwenke, C, Ho, A, Orth M, Handley OJ, Schwenke, Carsten, Dunnett SB, Dunnett, Stephen B, Michael Orth, G. Bernhard Landwehrmeyer   +59 more
core   +1 more source