Results 91 to 100 of about 649,887 (338)

Robust instrumental variable methods using multiple candidate instruments with application to Mendelian randomization [PDF]

arXiv, 2016
Mendelian randomization is the use of genetic variants to make causal inferences from observational data. The field is currently undergoing a revolution fuelled by increasing numbers of genetic variants demonstrated to be associated with exposures in genome-wide association studies, and the public availability of summarized data on genetic associations
arxiv  

Challenges in constructing genetic instruments for pharmacologic therapies [PDF]

arXiv, 2020
The genes that encode the targets of most therapies do not have rare variants with large-effect or common variants with moderate effects on the biomarker reflecting the pharmacologic action of the corresponding therapy. Therefore, providing genetic target validation for most therapies is challenging.
arxiv  

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

Molecular 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, Leon W. M. M. Terstappen, Eshwari Dathathri, Khrystany Isebia, Jaco Kraan, John Martens, Ruchi Bansal   +6 more
wiley   +1 more source

CRY2 Genetic Variants Associate with Dysthymia

PLoS ONE, 2013
People with mood disorders often have disruptions in their circadian rhythms. Recent molecular genetics has linked circadian clock genes to mood disorders. Our objective was to study two core circadian clock genes, CRY1 and CRY2 as well as TTC1 that interacts with CRY2, in relation to depressive and anxiety disorders.
Kovanen, Leena, Kaunisto, Mari, Donner, Kati, Saarikoski, Sirkku T., Partonen, Timo   +4 more
openaire   +6 more sources

Surfaceome: a new era in the discovery of immune evasion mechanisms of circulating tumor cells

Molecular Oncology, EarlyView.
In the era of immunotherapies, many patients either do not respond or eventually develop resistance. We propose to pave the way for proteomic analysis of surface‐expressed proteins called surfaceome, of circulating tumor cells. This approach seeks to identify immune evasion mechanisms and discover potential therapeutic targets. Circulating tumor cells (
Doryan Masmoudi, Jérome Vialaret, Christophe Hirtz, Catherine Alix‐Panabières   +3 more
wiley   +1 more source

Genetic Variants Associated with Hypertension Risk: Progress and Implications

Pulse
Background: Genetic variants causing diseases with hypertension as a secondary feature have previously been identified. Studies focussing on primary hypertension have utilised common and latterly rare genetic variants in attempts to elucidate the genetic
David Curtis
doaj   +1 more source

Genetic Landscape and Clinical Manifestations of Multiple Endocrine Neoplasia Type 1 in a Korean Cohort: A Multicenter Retrospective Analysis [PDF]

Endocrinology and Metabolism
Background Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder characterized by tumors in multiple endocrine organs, caused by variants in the MEN1 gene.
Boram Kim, Seung Hun Lee, Chang Ho Ahn, Han Na Jang, Sung Im Cho, Jee-Soo Lee, Yu-Mi Lee, Su-Jin Kim, Tae-Yon Sung, Kyu Eun Lee, Woochang Lee, Jung-Min Koh, Moon-Woo Seong, Jung Hee Kim   +13 more
doaj   +1 more source

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

Molecular 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, Samantha Hasenleithner, Rupert Bartsch, Simon P. Gampenrieder, Daniel Egle, Christian F. Singer, Gabriel Rinnerthaler, Michael Hubalek, Katja Schmitz, Zsuzsanna Bago‐Horvath, Andreas Petzer, Sonja Heibl, Ellen Heitzer, Marija Balic, Michael Gnant   +14 more
wiley   +1 more source

Wavelet-based genetic association analysis of functional phenotypes arising from high-throughput sequencing assays [PDF]

arXiv, 2013
Understanding how genetic variants influence cellular-level processes is an important step towards understanding how they influence important organismal-level traits, or "phenotypes", including human disease susceptibility. To this end scientists are undertaking large-scale genetic association studies that aim to identify genetic variants associated ...
arxiv  

Circulating tumor cells in metastatic breast cancer patients treated with immune checkpoint inhibitors – a biomarker analysis of the ALICE and ICON trials

Molecular Oncology, EarlyView.
In this explorative biomarker analysis, we assessed serial sampling of circulating tumor cells (CTCs) with CellSearch in two randomized trials testing immune checkpoint inhibitors (ICIs) in metastatic breast cancer. Our data demonstrate a prognostic potential of CTCs, most apparent 4 weeks into ICI therapy.
Nikolai Kragøe Andresen, Andreas Hagen Røssevold, Elin Borgen, Cecilie Bendigtsen Schirmer, Bjørnar Gilje, Øystein Garred, Jon Lømo, Marius Stensland, Oddmund Nordgård, Ragnhild Sørum Falk, Randi R. Mathiesen, Hege G. Russnes, Jon Amund Kyte, Bjørn Naume   +13 more
wiley   +1 more source