Results 91 to 100 of about 12,192,107 (344)

Human hepatic organoids for the analysis of human genetic diseases.

open access: yesJCI Insight, 2017
We developed an in vitro model system where induced pluripotent stem cells (iPSCs) differentiate into 3-dimensional human hepatic organoids (HOs) through stages that resemble human liver during its embryonic development.
Y. Guan   +11 more
semanticscholar   +1 more source

Modifications in FLAP's second cytosolic loop influence 5‐LOX interaction, inhibitor binding, and leukotriene formation

open access: yesFEBS Letters, EarlyView.
The enzyme 5‐lipoxygenase (5‐LOX) catalyzes the first step in the biosynthesis of leukotrienes (LTs) involved in inflammatory pathophysiology. After cellular stimulation, 5‐LOX translocates to the nucleus, interacting with the 5‐LOX‐activating protein (FLAP) to form LTA4 from arachidonic acid (AA).
Erik Romp   +5 more
wiley   +1 more source

Genome-wide Causation Studies of Complex Diseases [PDF]

open access: yesarXiv, 2019
Despite significant progress in dissecting the genetic architecture of complex diseases by genome-wide association studies (GWAS), the signals identified by association analysis may not have specific pathological relevance to diseases so that a large fraction of disease causing genetic variants is still hidden. Association is used to measure dependence
arxiv  

Mapping the Genetic-Imaging-Clinical Pathway with Applications to Alzheimer's Disease [PDF]

open access: yesarXiv, 2020
Alzheimer's disease is a progressive form of dementia that results in problems with memory, thinking, and behavior. It often starts with abnormal aggregation and deposition of beta amyloid and tau, followed by neuronal damage such as atrophy of the hippocampi, leading to Alzheimer's Disease (AD).
arxiv  

CRISPR/Cas9 in zebrafish: an efficient combination for human genetic diseases modeling

open access: yesHuman Genetics, 2016
The next-generation sequencing identifies a growing number of candidate genes associated with human genetic diseases, which inevitably requires efficient methods to validate the causal links between genotype and phenotype.
Jiaqi Liu   +7 more
semanticscholar   +1 more source

Unlocking the potential of tumor‐derived DNA in urine for cancer detection: methodological challenges and opportunities

open access: yesMolecular Oncology, EarlyView.
Urine is a rich source of biomarkers for cancer detection. Tumor‐derived material is released into the bloodstream and transported to the urine. Urine can easily be collected from individuals, allowing non‐invasive cancer detection. This review discusses the rationale behind urine‐based cancer detection and its potential for cancer diagnostics ...
Birgit M. M. Wever   +1 more
wiley   +1 more source

CRISPR/Cas9 therapeutics: a cure for cancer and other genetic diseases

open access: yesOncoTarget, 2016
Cancer is caused by a series of alterations in genome and epigenome mostly resulting in activation of oncogenes or inactivation of cancer suppressor genes.
F. A. Khan   +8 more
semanticscholar   +1 more source

Identification of functional and diverse circulating cancer‐associated fibroblasts in metastatic castration‐naïve prostate cancer patients

open access: yesMolecular Oncology, EarlyView.
Cancer‐associated fibroblasts (CAFs) promote cancer growth, invasion (metastasis), and drug resistance. Here, we identified functional and diverse circulating CAFs (cCAFs) in patients with metastatic prostate cancer (mPCa). cCAFs were found in higher numbers and were functional and diverse in mPCa patients versus healthy individuals, suggesting their ...
Richell Booijink   +6 more
wiley   +1 more source

Disentangling genetic and environmental risk factors for individual diseases from multiplex comorbidity networks [PDF]

open access: yesarXiv, 2016
Most disorders are caused by a combination of multiple genetic and/or environmental factors. If two diseases are caused by the same molecular mechanism, they tend to co-occur in patients. Here we provide a quantitative method to disentangle how much genetic or environmental risk factors contribute to the pathogenesis of 358 individual diseases ...
arxiv  

Clinical applications of next‐generation sequencing‐based ctDNA analyses in breast cancer: defining treatment targets and dynamic changes during disease progression

open access: yesMolecular Oncology, EarlyView.
Circulating tumor DNA (ctDNA) offers a possibility for different applications in early and late stage breast cancer management. In early breast cancer tumor informed approaches are increasingly used for detecting molecular residual disease (MRD) and early recurrence. In advanced stage, ctDNA provides a possibility for monitoring disease progression and
Eva Valentina Klocker   +14 more
wiley   +1 more source

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