Suchergebnisse - "Pankratz, Nathan"
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Genetic and nongenetic risk factors for childhood cancer
ISSN: 1557-8240, 1557-8240Veröffentlicht: United States 01.02.2015Veröffentlicht in The Pediatric clinics of North America (01.02.2015)“… The causes of childhood cancer have been systematically studied for decades, but apart from high-dose radiation and prior chemotherapy there are few strong …”
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Discovering genetic interactions bridging pathways in genome-wide association studies
ISSN: 2041-1723, 2041-1723Veröffentlicht: London Nature Publishing Group UK 19.09.2019Veröffentlicht in Nature communications (19.09.2019)“… Genetic interactions have been reported to underlie phenotypes in a variety of systems, but the extent to which they contribute to complex disease in humans …”
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Evaluation of mitochondrial DNA copy number estimation techniques
ISSN: 1932-6203, 1932-6203Veröffentlicht: United States Public Library of Science 31.01.2020Veröffentlicht in PloS one (31.01.2020)“… Mitochondrial DNA copy number (mtDNA-CN), a measure of the number of mitochondrial genomes per cell, is a minimally invasive proxy measure for mitochondrial …”
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Genome-Wide Association of Familial Late-Onset Alzheimer's Disease Replicates BIN1 and CLU and Nominates CUGBP2 in Interaction with APOE
ISSN: 1553-7404, 1553-7390, 1553-7404Veröffentlicht: United States Public Library of Science 01.02.2011Veröffentlicht in PLoS genetics (01.02.2011)“… Late-onset Alzheimer's disease (LOAD) is the most common form of dementia in the elderly. The National Institute of Aging-Late Onset Alzheimer's Disease Family …”
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Association between Mitochondrial DNA Copy Number in Peripheral Blood and Incident CKD in the Atherosclerosis Risk in Communities Study
ISSN: 1533-3450, 1533-3450Veröffentlicht: United States 01.08.2016Veröffentlicht in Journal of the American Society of Nephrology (01.08.2016)“… Mitochondrial dysfunction in kidney cells has been implicated in the pathogenesis of CKD. Mitochondrial DNA (mtDNA) copy number is a surrogate measure of …”
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Deleterious heteroplasmic mitochondrial mutations are associated with an increased risk of overall and cancer-specific mortality
ISSN: 2041-1723, 2041-1723Veröffentlicht: London Nature Publishing Group UK 30.09.2023Veröffentlicht in Nature communications (30.09.2023)“… Mitochondria carry their own circular genome and disruption of the mitochondrial genome is associated with various aging-related diseases. Unlike the nuclear …”
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Mitochondrial DNA copy number can influence mortality and cardiovascular disease via methylation of nuclear DNA CpGs
ISSN: 1756-994X, 1756-994XVeröffentlicht: London BioMed Central 28.09.2020Veröffentlicht in Genome medicine (28.09.2020)“… Background Mitochondrial DNA copy number (mtDNA-CN) has been associated with a variety of aging-related diseases, including all-cause mortality. However, the …”
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Copy number variations and cognitive phenotypes in unselected populations
ISSN: 1538-3598, 1538-3598Veröffentlicht: United States 26.05.2015Veröffentlicht in JAMA : the journal of the American Medical Association (26.05.2015)“… The association of copy number variations (CNVs), differing numbers of copies of genetic sequence at locations in the genome, with phenotypes such as …”
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Prediction of venous thromboembolism incidence in the general adult population using two published genetic risk scores
ISSN: 1932-6203, 1932-6203Veröffentlicht: United States Public Library of Science 30.01.2023Veröffentlicht in PloS one (30.01.2023)“… Most strategies for prevention of venous thromboembolism focus on preventing recurrent events. Yet, primary prevention might be possible through approaches …”
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Whole genome association study of brain-wide imaging phenotypes for identifying quantitative trait loci in MCI and AD: A study of the ADNI cohort
ISSN: 1053-8119, 1095-9572, 1095-9572Veröffentlicht: United States Elsevier Inc 15.11.2010Veröffentlicht in NeuroImage (Orlando, Fla.) (15.11.2010)“… A genome-wide, whole brain approach to investigate genetic effects on neuroimaging phenotypes for identifying quantitative trait loci is described. The …”
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Loss-of-function mutations in the CABLES1 gene are a novel cause of Cushing's disease
ISSN: 1479-6821, 1479-6821Veröffentlicht: England 01.08.2017Veröffentlicht in Endocrine-related cancer (01.08.2017)“… The cell cycle regulator participates in the adrenal-pituitary negative feedback, and its expression is reduced in corticotropinomas, pituitary tumors with a …”
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Genomewide association study for susceptibility genes contributing to familial Parkinson disease
ISSN: 0340-6717, 1432-1203, 1432-1203Veröffentlicht: Berlin/Heidelberg Berlin/Heidelberg : Springer-Verlag 01.01.2009Veröffentlicht in Human genetics (01.01.2009)“… Five genes have been identified that contribute to Mendelian forms of Parkinson disease (PD); however, mutations have been found in fewer than 5% of patients, …”
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Evaluation of the relationship between plasma lipids and abdominal aortic aneurysm: A Mendelian randomization study
ISSN: 1932-6203, 1932-6203Veröffentlicht: United States Public Library of Science 12.04.2018Veröffentlicht in PloS one (12.04.2018)“… Studies have reported that higher circulating levels of total cholesterol (TC), low-density lipoprotein (LDL) cholesterol and lower of high-density lipoprotein …”
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Associations of Midlife Leukocyte Telomere Length With Measures of Left Atrial Function in Community‐Dwelling Older Adults: The ARIC Study
ISSN: 2047-9980, 2047-9980Veröffentlicht: England Wiley 19.08.2025Veröffentlicht in Journal of the American Heart Association (19.08.2025)“… It is unknown whether atrial myopathy, ascertained by poor left atrial (LA) function, is associated with biological aging independent of chronological age …”
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Mitochondrial DNA copy number and incident atrial fibrillation
ISSN: 1741-7015, 1741-7015Veröffentlicht: London BioMed Central 16.09.2020Veröffentlicht in BMC medicine (16.09.2020)“… Background Mechanistic studies suggest that mitochondria DNA (mtDNA) dysfunction may be associated with increased risk of atrial fibrillation (AF). The …”
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Association between MICA polymorphisms, s-MICA levels, and pancreatic cancer risk in a population-based case-control study
ISSN: 1932-6203, 1932-6203Veröffentlicht: United States Public Library of Science 05.06.2019Veröffentlicht in PloS one (05.06.2019)“… Pancreatic tumor cells may avoid immune surveillance by releasing the transmembrane major histocompatibility complex class I chain-related A (MICA) protein in …”
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Whole-exome sequencing in 415,422 individuals identifies rare variants associated with mitochondrial DNA copy number
ISSN: 2666-2477, 2666-2477Veröffentlicht: United States Elsevier Inc 12.01.2023Veröffentlicht in HGG advances (12.01.2023)“… Inter-individual variation in the number of copies of the mitochondrial genome, called mitochondrial DNA copy number (mtDNA-CN), reflects mitochondrial …”
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Gene Expression Profiles in Parkinson Disease Prefrontal Cortex Implicate FOXO1 and Genes under Its Transcriptional Regulation
ISSN: 1553-7404, 1553-7390, 1553-7404Veröffentlicht: United States Public Library of Science 01.06.2012Veröffentlicht in PLoS genetics (01.06.2012)“… Parkinson disease (PD) is a complex neurodegenerative disorder with largely unknown genetic mechanisms. While the degeneration of dopaminergic neurons in PD …”
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Exome sequencing findings in children with annular pancreas
ISSN: 2324-9269, 2324-9269Veröffentlicht: United States John Wiley & Sons, Inc 01.10.2023Veröffentlicht in Molecular genetics & genomic medicine (01.10.2023)“… Annular pancreas (AP) is a congenital defect of unknown cause in which the pancreas encircles the duodenum. Theories include abnormal migration and rotation of …”
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Genetic analysis of hsCRP in American Indians: The Strong Heart Family Study
ISSN: 1932-6203, 1932-6203Veröffentlicht: United States Public Library of Science 17.10.2019Veröffentlicht in PloS one (17.10.2019)“… Increased serum levels of C-reactive protein (CRP), an important component of the innate immune response, are associated with increased risk of cardiovascular …”
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