Results 51 to 60 of about 875,037 (313)

Understanding Disease Susceptibility through Population Genomics [PDF]

open access: yesGenomics & Informatics, 2012
Genetic epidemiology studies have established that the natural variation of gene expression profiles is heritable and has genetic bases. A number of proximal and remote DNA variations, known as expression quantitative trait loci (eQTLs), that are ...
Seonggyun Han, Junnam Lee, Sangsoo Kim
doaj   +1 more source

Genetic susceptibility in Parkinson's disease

open access: yesBiochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 2009
It is hoped that an understanding of the genetic basis of Parkinson's disease (PD) will lead to an appreciation of the molecular pathogenesis of disease, which in turn will highlight potential points of therapeutic intervention. It is also hoped that such an understanding will allow identification of individuals at risk for disease prior to the onset ...
Bras, Jose Miguel, Singleton, Andrew
openaire   +2 more sources

Natural Killer Cells in Paediatric Soft Tissue Sarcomas: A Systematic Review

open access: yesPediatric Blood &Cancer, EarlyView.
ABSTRACT Paediatric soft tissue sarcomas (pSTS) are a rare and heterogeneous group of malignant tumours arising in tissues of mesenchymal origin. The role of natural killer (NK) cells in pSTS remains poorly understood, with evidence fragmented across small preclinical studies and early‐phase clinical trials.
Raya Dean   +7 more
wiley   +1 more source

X-linked Toll-like receptor 7 polymorphism associated with susceptibility to Chikungunya Fever

open access: yesAsian Pacific Journal of Tropical Medicine, 2019
Objective: To investigate the association between TLR3 and TLR7 polymorphisms with susceptibility and clinical manifestations of Chikungunya Fever. Methods: A total of 177 individuals were studied: 73 patients with a confirmed diagnosis for Chikungunya ...
Daniela M Rauseo   +1 more
doaj   +1 more source

Acute Neurological Events in Children With Hemoglobin SC Disease: A Multicenter Retrospective Study

open access: yesPediatric Blood &Cancer, EarlyView.
ABSTRACT Introduction Neurological manifestations in children with hemoglobin SC (HbSC) disease remain insufficiently characterized, particularly regarding acute events. The aim of this study was to describe the spectrum and frequency of acute neurological events in a multicenter cohort of children with HbSC disease.
Célia Paulmin   +11 more
wiley   +1 more source

Prenatal hormone stress triggers embryonic cardiac hypertrophy outcome by ubiquitin-dependent degradation of mitochondrial mitofusin 2

open access: yesiScience
Summary: Prenatal stress has been extensively documented as a contributing factor to adverse cardiac development and function in fetuses and infants. The release of glucocorticoids (GCs), identified as a significant stressor, may be a potential factor ...
Chang-Yu Yan   +15 more
doaj   +1 more source

Aspartame exposure impairs bone formation in zebrafish larvae through ferroptosis-associated redox dysregulation, accompanied by an NRF2-related antioxidant response

open access: yesJournal of Agriculture and Food Research
Aspartame (ASP), a widely used artificial sweetener, has been reported to exert potential neurotoxic, hepatotoxic, nephrotoxic, and genotoxic effects; however, its impact on bone formation and skeletal homeostasis remains poorly understood. In this study,
Chang-Yu Yan   +9 more
doaj   +1 more source

Pollutants and Their Interaction with Diseases of Social Hymenoptera

open access: yesInsects, 2020
Many insect species, including social insects, are currently declining in abundance and diversity. Pollutants such as pesticides, heavy metals, or airborne fine particulate matter from agricultural and industrial sources are among the factors driving ...
Heike Feldhaar, Oliver Otti
doaj   +1 more source

Organoids in pediatric cancer research

open access: yesFEBS Letters, EarlyView.
Organoid technology has revolutionized cancer research, yet its application in pediatric oncology remains limited. Recent advances have enabled the development of pediatric tumor organoids, offering new insights into disease biology, treatment response, and interactions with the tumor microenvironment.
Carla Ríos Arceo, Jarno Drost
wiley   +1 more source

Medulloblastoma, macrocephaly, and a pathogenic germline PTEN variant: Cause or coincidence?

open access: yesMolecular Genetics & Genomic Medicine, 2020
Background Medulloblastomas (MBs) are a heterogeneous group of childhood brain tumors with four consensus subgroups, namely MBSHH, MBWNT, MBGroup 3, and MBGroup 4, representing the second most common type of pediatric brain cancer after high‐grade ...
Jussi‐Pekka Tolonen   +6 more
doaj   +1 more source

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