Search results for "Genetic Predisposition to Disease"
showing 10 items of 690 documents
Long-term effects of the home literacy environment on reading development: Familial risk for dyslexia as a moderator.
2021
This study aimed to gain better understanding of the associations between literacy activities at home and long-term language and literacy development. We extended the home literacy environment (HLE) model of Sénéchal and LeFevre (Child Development [2002], Vol. 73, pp. 445–460) by including repeated assessments of shared reading, oral language, and reading comprehension development, including examination of familial risk for dyslexia as a moderator, and following development over time from ages 2 to 15 years. Of the 198 Finnish participants, 106 have familial risk for dyslexia due to parental dyslexia. Our path models include development in vocabulary (2–5.5 years), emerging literacy (5.5 ye…
Identification and diagnosis of patients with familial chylomicronaemia syndrome (FCS): Expert panel recommendations and proposal of an "FCS score".
2018
Familial chylomicronaemia syndrome (FCS) is a rare, inherited disorder characterised by impaired clearance of triglyceride (TG)-rich lipoproteins from plasma, leading to severe hypertriglyceridaemia (HTG) and a markedly increased risk of acute pancreatitis. It is due to the lack of lipoprotein lipase (LPL) function, resulting from recessive loss of function mutations in the genes coding LPL or its modulators. A large overlap in the phenotype between FCS and multifactorial chylomicronaemia syndrome (MCS) contributes to the inconsistency in how patients are diagnosed and managed worldwide, whereas the incidence of acute hypertriglyceridaemic pancreatitis is more frequent in FCS. A panel of Eu…
Type 1 Diabetes and Autoimmune Thyroid Disease—The Genetic Link
2021
Type 1 diabetes (T1D) and autoimmune thyroid disease (AITD) are the most frequent chronic autoimmune diseases worldwide. Several autoimmune endocrine and non-endocrine disorders tend to occur together. T1D and AITD often cluster in individuals and families, seen in the formation of autoimmune polyendocrinopathy (AP). The close relationship between these two diseases is largely explained by sharing a common genetic background. The HLA antigens DQ2 (DQA1*0501-DQB1*0201) and DQ8 (DQA1*0301-DQB1*0302), tightly linked with DR3 and DR4, are the major common genetic predisposition. Moreover, functional single nucleotide polymorphisms (or rare variants) of various genes, such as the cytotoxic T-lym…
Comparative evolution of P–M system and infection by the sigma virus in French and Spanish populations ofDrosophila melanogaster
1992
SummaryIn 1983, an extensive survey of populations ofD. melanogasterwas started in a southern French region (Languedoc) in two non-Mendelian systems: the P–M system of transposable elements and the hereditary Rhabdovirus sigma. Unexpectedly fast-evolving phenomena were observed and interesting correlations were noted, giving similar geographical pattern to the region in both systems. For these reasons, the analysis was continued and extended towards the north (Rhône Valley) and the south (Spain). In the P–M system, all the Languedoc populations evolved from 1983 to 1991 towards the Q type which is characteristic of the Rhône Valley populations. In contrast, M′ strains are currently observed…
Genetic and Molecular Characterization of The Human Osteosarcoma 3AB-OS Cancer Stem Cell Line: A Possible Model For Studying Osteosarcoma Origin and …
2013
Finding new treatments targeting cancer stem cells (CSCs) within a tumor seems to be critical to halt cancer and improve patient survival. Osteosarcoma is an aggressive tumor affecting adolescents, for which there is no second-line chemotherapy. Uncovering new molecular mechanisms underlying the development of osteosarcoma and origin of CSCs is crucial to identify new possible therapeutic strategies. Here, we aimed to characterize genetically and molecularly the human osteosarcoma 3AB-OS CSC line, previously selected from MG63 cells and which proved to have both in vitro and in vivo features of CSCs. Classic cytogenetic studies demonstrated that 3AB-OS cells have hypertriploid karyotype wit…
Role of genetic polymorphisms in myocardial infarction at young age
2010
Acute myocardial infarction (AMI) in young adult presents a typical pattern of risk factors, clinical, angiographic and prognostic characteristics. In the last years we demonstrated that hemorheological profile is altered in these patients in a persistent way and independently of the number of risk factors and of the extent of coronary lesions. Thus, the hyperviscosity syndrome following AMI could be considered an intrinsic characteristic of these patients. Consequently it is possible to hypothesise the presence of a genetic background at the origin of this predisposition. If this background is able to influence the risk of ischemic heart disease, this should be particularly evident in youn…
European Panel on Low Density Lipoprotein (LDL) Subclasses: A Statement on the Pathophysiology, Atherogenicity and Clinical Significance of LDL Subcl…
2011
Item does not contain fulltext Aim of the present Consensus Statement is to provide a comprehensive and up to-date document on the pathophysiology, atherogenicity and clinical significance of low density liproproteins (LDL) subclasses. We sub-divided our statement in 2 sections. section I discusses the pathophysiology, atherogenicity and measurement issues, while section II is focused on the effects of drug and lifestyle modifications. Suggestions for future research in the field are highlighted at the end of section II. Each section includes Conclusions.
SULT1A1 gene deletion in BRCA2-associated male breast cancer: a link between genes and environmental exposures?
2013
SULT1A1, a member of sulfotransferase superfamily, is a drug and hormone metabolizing enzyme involved in the metabolism of a variety of potential mammary carcinogens of endogenous and exogenous origin. Interestingly, the metabolic activity of SULT1A1 can be affected by varia- tions in gene copy number. Male Breast Cancer (MBC) is a rare disease and less investigated disease compared to female BC (FBC). As in FBC, the concurrent effects of genetic risk factors, particularly BRCA2 mutations, increased exposure to estrogens and environmental carcinogens play a relevant role in MBC. By quantitative real-time PCR with TaqMan probes, we investigated the presence of SULT1A1 gene copy number variat…
Cannabis Use and the Risk for Psychosis and Affective Disorders.
2019
Objective: This review discusses the relationship between cannabis use and psychotic, bipolar, depressive, and anxiety disorders, as well as suicide. It summarizes epidemiological evidence from cross-sectional and long-term prospective studies and considers possible etiological mechanisms. Methods: Systematic reviews and methodologically robust studies in the field (from inception to February 2019) were identified using a comprehensive search of Medline, PsychINFO, and Embase and summarized using a narrative synthesis. Results: Consistent evidence, both from observational and experimental studies, has confirmed the important role of cannabis use in the initiation and persistence of psychoti…
Impact of
2018
Drosophila melanogaster has been for over a century the model of choice of several neurobiologists to decipher the formation and development of the nervous system as well as to mirror the pathophysiological conditions of many human neurodegenerative diseases. The rare disease Friedreich’s ataxia (FRDA) is not an exception. Since the isolation of the responsible gene more than two decades ago, the analysis of the fly orthologue has proven to be an excellent avenue to understand the development and progression of the disease, to unravel pivotal mechanisms underpinning the pathology and to identify genes and molecules that might well be either disease biomarkers or promising targets for therap…