Results 51 to 60 of about 198,180 (264)

Genetic predisposition to Parkinson's disease: CYP2D6 and HFE in the Faroe Islands

Pharmacogenetics and Genomics, 2008
To investigate whether the genetic variants of CYP2D6 and HFE are more frequent in Parkinson's disease (PD) patients compared with controls in a population where the prevalence of these variants and PD are increased.Blood samples were collected from 79 PD patients and 154 controls in the Faroe Islands.
Halling, Jónrit, Petersen, Maria Skaalum, Grandjean, Philippe; id_orcid 0000-0003-4046-9658, Weihe, Pál, Brøsen, Kim   +4 more
openaire   +3 more sources

Single‐cell DNA methylation profiling: Technologies, computation, and applications in precision oncology

Molecular Oncology, EarlyView.
Single‐cell DNA methylation (scDNAme) profiling maps epimutational clonal evolution, revealing mechanisms of malignancy and therapeutic resistance across diverse cancer types. By providing a high‐resolution landscape of intratumoral heterogeneity, these technologies empower precise patient stratification, guide the development of enhanced ...
Ik Soo Kim
wiley   +1 more source

CLINICAL AND GENETIC PARALLELS ALONG CELIAC DISEASE AMONG TOMSK CHILDREN

Педиатрическая фармакология, 2007
The article is devoted to the analysis of the genetic predisposition to celiac disease. The authors studied the associations of the HLA genes and modifier genes of the immune response (interleukine 1, inter leukine 1 receptor antagonist, inter leukine 4,
E.I. Kondrat’eva, V.P. Puzyrev, L.P. Nazarenko, A.A. Rudko, G.N. Yankina, E.V. Loshkova   +5 more
doaj   +2 more sources

PANoptosis in the pathogenesis of myelodysplastic syndromes

Molecular Oncology, EarlyView.
PANoptosis, a combination of three types of programmed cell death, is mediated by a large protein complex called a PANoptosome. In healthy bone marrow hematopoietic cells, PANoptosis is restricted by inhibitory signaling. In MDS, bone marrow cells become sensitive to the PANoptotic stimuli due to the aberrant inactivation of inhibitory signaling or ...
Rohit Thalla, Jyoti Lamichhane, Cameron Lewis, Peter Breslin, Jiwang Zhang   +4 more
wiley   +1 more source

An exploratory mixed-methods study using the ELICIT framework to identify stakeholder-informed implementation strategies for a population health platform

BMC Health Services Research
Background GARDE is an open-source software platform that supports population health management interventions including hereditary cancer cohort identification, patient engagement, education, and access to genetic testing services.
Anne C. Madeo, Jarrod Marable, Polina Kukhareva, Wendy K. Kohlmann, Richard L. Bradshaw, Whitney Maxwell, Che Martin, Lauren Davis-Rivera, Muhammad Danyal Ahsan, Emerson P. Borsato, Elena B. Elkin, Kimberly A. Kaphingst, Melissa K. Frey, Ravi N. Sharaf, Kensaku Kawamoto, Guilherme Del Fiol, Chelsey Schlechter, Caitlin G. Allen   +17 more
doaj   +1 more source

Early‐life high‐fat diet exposure increases Achilles tendon stiffness and induces transcriptomic alterations

FEBS Open Bio, EarlyView.
Early‐life exposure to a high‐fat diet altered intact Achilles tendons in rat offspring, making them thinner, stiffer, and molecularly distinct even without injury. These findings suggest that developmental high‐fat diet exposure may impair tendon quality and increase susceptibility to mechanical overload or tendon injury later in life.
Heyong Yin, Ziyang Yuan, Wenli Jiang, Ai Guo   +3 more
wiley   +1 more source

Pilot GWAS of caries in African-Americans shows genetic heterogeneity

BMC Oral Health, 2019
Background Dental caries is the most common chronic disease in the US and disproportionately affects racial/ethnic minorities. Caries is heritable, and though genetic heterogeneity exists between ancestries for a substantial portion of loci associated ...
E. Orlova, J. C. Carlson, M. K. Lee, E. Feingold, D. W. McNeil, R. J. Crout, R. J. Weyant, M. L. Marazita, J. R. Shaffer   +8 more
doaj   +1 more source

Aging Is a Key Driver for Adult Acute Myeloid Leukemia

Aging and Cancer, EarlyView.
Acute myeloid leukemia (AML) is a classical age‐related hematologic malignancy, and a key driver of AML is aging, which profoundly regulates intrinsic factors such as genomic instability, epigenetic reprogramming, and metabolic dysregulation, and alters bone marrow microenvironment.
Rong Yin, Haojian Zhang
wiley   +1 more source

Chronobiology of Cancer: How Aging Fuels Oncogenesis at the Molecular Level

Aging and Cancer, EarlyView.
This graphical abstract illustrates the key biological pathways linking aging with cancer development and progression. In the upper left, cumulative exposure to ultraviolet radiation, toxins, and reactive oxygen species (ROS) causes DNA damage and genomic instability, whereas age‐related decline in repair mechanisms, such as ATM/ATR, BER, and NER ...
Anu Singh, Aroonima Misra, Sufian Zaheer
wiley   +1 more source

Super‐Refractory Status Epilepticus (SRSE) in a Patient With Compound Heterozygous OPA1 Variants: Case Report and Literature Review

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Super‐Refractory Status Epilepticus (SRSE) is a rare, life‐threatening neurological emergency with unclear etiology in many cases. Mitochondrial dysfunction, often due to disease‐causing genetic variants, is increasingly recognized as a cause, with each gene producing distinct pathophysiological mechanisms.
Pouria Mohammadi, Lara Basovic, Christopher Michael McGraw   +2 more
wiley   +1 more source