Browsing Harvard Medical School by Title
Now showing items 7003-7022 of 18424
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Genetic fine-mapping and genomic annotation defines causal mechanisms at type 2 diabetes susceptibility loci
(2015)We performed fine-mapping of 39 established type 2 diabetes (T2D) loci in 27,206 cases and 57,574 controls of European ancestry. We identified 49 distinct association signals at these loci, including five mapping in/near ... -
Genetic Fixity in the Human Major Histocompatibility Complex and Block Size Diversity in the Class I Region Including HLA-E
(BioMed Central, 2007)Background: The definition of human MHC class I haplotypes through association of HLA-A, HLA-Cw and HLA-B has been used to analyze ethnicity, population migrations and disease association. Results: Here, we present HLA-E ... -
The genetic heterogeneity and mutational burden of engineered melanomas in zebrafish models
(BioMed Central, 2013)Background: Melanoma is the most deadly form of skin cancer. Expression of oncogenic BRAF or NRAS, which are frequently mutated in human melanomas, promote the formation of nevi but are not sufficient for tumorigenesis. ... -
The Genetic History of Ice Age Europe
(Springer Science and Business Media LLC, 2016-05-02)Modern humans arrived in Europe ~45,000 years ago, but little is known about their genetic composition before the start of farming ~8,500 years ago. We analyze genomewide data from 51 Eurasians from ~45,000-7,000 years ... -
A Genetic History of the Pre-Contact Caribbean
(Springer Nature, 2020-12-23)Humans settled the Caribbean ~6,000 years ago, with ceramic use and intensified agriculture marking a shift from the Archaic to the Ceramic Age ~2,500 years ago. We report genome-wide data from 174 individuals from The ... -
Genetic Inactivation of COPI Coatomer Separately Inhibits Vesicular Stomatitis Virus Entry and Gene Expression
(American Society for Microbiology, 2012)Viruses coopt cellular membrane transport to invade cells, establish intracellular sites of replication, and release progeny virions. Recent genome-wide RNA interference (RNAi) screens revealed that genetically divergent ... -
Genetic Inactivation of Pyruvate Dehydrogenase Kinases Improves Hepatic Insulin Resistance Induced Diabetes
(Public Library of Science, 2013)Pyruvate dehydrogenase kinases (PDK1-4) play a critical role in the inhibition of the mitochondrial pyruvate dehydrogenase complex especially when blood glucose levels are low and pyruvate can be conserved for gluconeogenesis. ... -
Genetic influences on schizophrenia and subcortical brain volumes: large-scale proof-of-concept and roadmap for future studies
(2016)Schizophrenia is a devastating psychiatric illness with high heritability. Brain structure and function differ, on average, between schizophrenia cases and healthy individuals. As common genetic associations are emerging ... -
Genetic inhibition of hepatic acetyl-CoA carboxylase activity increases liver fat and alters global protein acetylationa
(Elsevier, 2014)Lipid deposition in the liver is associated with metabolic disorders including fatty liver disease, type II diabetes, and hepatocellular cancer. The enzymes acetyl-CoA carboxylase 1 (ACC1) and ACC2 are powerful regulators ... -
Genetic Interaction between Tmprss2-ERG Gene Fusion and Nkx3.1-Loss Does Not Enhance Prostate Tumorigenesis in Mouse Models
(Public Library of Science, 2015)Gene fusions involving ETS family transcription factors (mainly TMPRSS2-ERG and TMPRSS2-ETV1 fusions) have been found in ~50% of human prostate cancer cases. Although expression of TMPRSS2-ERG or TMPRSS2-ETV1 fusion alone ... -
Genetic interactions between a phospholipase A2 and the Rim101 pathway components in S. cerevisiae reveal a role for this pathway in response to changes in membrane composition and shape
(Springer-Verlag, 2010)Modulating composition and shape of biological membranes is an emerging mode of regulation of cellular processes. We investigated the global effects that such perturbations have on a model eukaryotic cell. Phospholipases ... -
The genetic landscape of high-risk neuroblastoma
(2013)Neuroblastoma is a malignancy of the developing sympathetic nervous system that often presents with widespread metastatic disease, resulting in survival rates of less than 50%1. To determine the spectrum of somatic mutation ... -
The genetic landscape of X-linked adrenoleukodystrophy: inheritance, mutations, modifier genes, and diagnosis
(Dove Medical Press, 2015)X-linked adrenoleukodystrophy (X-ALD) is caused by mutations in the ABCD1 gene encoding a peroxisomal ABC transporter. In this review, we compare estimates of incidence derived from different populations in order to provide ... -
Genetic Loci Associated With Atrial Fibrillation: Relation to Left Atrial Structure in the Framingham Heart Study
(Blackwell Publishing Ltd, 2014)Background: Atrial fibrillation (AF) results in significant morbidity and mortality. Genome‐wide association studies (GWAS) have identified genetic variants associated with AF. Whether genetic variants associated with AF ... -
The genetic map of goldfish (Carassius auratus) provided insights to the divergent genome evolutions in the Cyprinidae family
(Nature Publishing Group, 2016)A high-density linkage map of goldfish (Carassius auratus) was constructed using RNA-sequencing. This map consists of 50 linkage groups with 8,521 SNP markers and an average resolution of 0.62 cM. Approximately 84% of ... -
Genetic Marking and Characterization of Tac2-expressing Neurons in the Central and Peripheral Nervous System
(BioMed Central, 2012)Background: The neurocircuits that process somatic sensory information in the dorsal horn of the spinal cord are still poorly understood, with one reason being the lack of Cre lines for genetically marking or manipulating ... -
Genetic Mechanisms in Apc-Mediated Mammary Tumorigenesis
(Public Library of Science, 2009)Many components of Wnt/\(\beta\)-catenin signaling pathway also play critical roles in mammary tumor development, yet the role of the tumor suppressor gene APC (adenomatous polyposis coli) in breast oncongenesis is unclear. ... -
Genetic Meta-Analysis of Diagnosed Alzheimer’s Disease Identifies New Risk Loci and Implicates Aβ, Tau, Immunity and Lipid Processing
(Springer Science and Business Media LLC, 2019-02-28)Risk for late-onset Alzheimer’s disease (LOAD), the most prevalent dementia, is partially driven by genetics. To identify LOAD risk loci, we performed the largest genome-wide association meta-analysis of clinically diagnosed ... -
Genetic modification of hypertension by sGCa1
(Elsevier BV, 2013)Hypertension is an important modifiable risk factor for coronary heart disease, congestive heart failure, stroke, end-stage renal disease, and peripheral vascular disease, but many of the molecular mechanisms and genetic ... -
Genetic Modification of the Association between Peripubertal Dioxin Exposure and Pubertal Onset in a Cohort of Russian Boys
(National Institute of Environmental Health Sciences, 2013)Background: Exposure to dioxins has been associated with delayed pubertal onset in both epidemiologic and animal studies. Whether genetic polymorphisms may modify this association is currently unknown. Identifying such ...