Results 121 to 130 of about 922,149 (303)

Interpreting the effects of DNA polymerase variants at the structural level

Molecular Oncology, EarlyView.
Using MAVISp and molecular dynamics simulations, we analyzed over 60 000 missense variants in POLE and POLD1 from ClinVar, COSMIC, cBioPortal, and saturation mutagenesis. Identified mechanistic indicators, including stability, binding, and long‐range, enable structural interpretation, providing ACMG‐like evidence for possible reclassification of VUS ...
Matteo Arnaudi, Karolina Krzesińska, Ludovica Beltrame, Pablo Sánchez‐Izquierdo Besora, Matteo Tiberti, Mef Nilbert, Anna Rohlin, Elena Papaleo   +7 more
wiley   +1 more source

Gene-Environment Interaction in Psychological Traits and Disorders

, 2011
There has been an explosion of interest in studying gene-environment interactions (GxE) as they relate to the development of psychopathology. In this article, I review different methodologies to study gene-environment interaction, providing an overview ...
Danielle M. Dick
core   +1 more source

Metastasis on pause: How dormant tumor cells stay hidden within the tumor microenvironment and evade immune surveillance

Molecular Oncology, EarlyView.
Dormant cancer cells can hide in distant organs for years, evading treatment and the immune system. This review highlights how signals from the surrounding tissue and immune environment keep these cells inactive or trigger their reawakening. Understanding these mechanisms may help develop therapies to eliminate or control dormant cells and prevent ...
Kanishka Tiwary, Jose Javier Bravo‐Cordero   +1 more
wiley   +1 more source

DNA methylation and expression of MAPRE3 affect overall survival of early‐stage non‐small cell lung cancer patients

Molecular Oncology, EarlyView.
Both cg12821679MAPRE3 methylation and MAPRE3 expression are significantly associated with overall survival (OS) of non‐small cell lung cancer. Meanwhile, MAPRE3 expression significantly modified the effect of smoking cessation on OS. Smoking cessation benefits OS merely for patients with high MAPRE3 expression.
Chao Chen, Jiancheng Cheng, Ruili Hou, Xiaoyuan Zheng, Li Su, Maria Moksnes Bjaanæs, Anna Karlsson, Maria Planck, Johan Staaf, Åslaug Helland, Manel Esteller, David C. Christiani, Feng Chen, Xiaofei Cao, Ruyang Zhang   +14 more
wiley   +1 more source

Robust Tests for Additive Gene-Environment Interaction in Case-Control Studies Using Gene-Environment Independence

, 2017
There have been recent proposals advocating the use of additive gene-environment interaction instead of the widely used multiplicative scale, as a more relevant public health measure.
Consortium, for the Ovarian Cancer Association, Kiemeney, Lambertus, Joellen M Schildkraut, Susanne K Kjaer, Jonathan P Tyrer, Rossing, Mary Anne, Ness, Roberta B, Argyrios Ziogas, Anton-Culver, Hoda, Elisa V Bandera, Simon A Gayther, Mukherjee, Bhramar, Celeste Leigh Pearce, Schildkraut, Joellen M, Kirsten B Moysich, Pearce, Celeste Leigh, Cramer, Daniel W, Seunggeun Lee, Alice W Lee, Francesmary Modugno, Lee, Alice W, Bandera, Elisa V, Moysich, Kirsten B, Gentry-Maharaj, Aleksandra, Gang Liu, Tyrer, Jonathan P, Pharoah, Paul D, Brooke L Fridley, Usha Menon, Fridley, Brooke L, null null, Modugno, Francesmary, Ramus, Susan J, Lambertus Kiemeney, Roberta B Ness, Wu, Anna H, Jenny Chang-Claude, Leon Massuger, Menon, Usha, Jensen, Allan, Lee, Seunggeun, Liu, Gang, Paul D Pharoah, Harvey Risch, Daniel W Cramer, Kjaer, Susanne K, Kathryn L Terry, Risch, Harvey, Anna H Wu, Chang-Claude, Jenny, Penelope M Webb, Jennifer A Doherty, Ziogas, Argyrios, Bhramar Mukherjee, Mary Anne Rossing, Webb, Penelope M, Aleksandra Gentry-Maharaj, Susan J Ramus, Hoda Anton-Culver, Massuger, Leon, Allan Jensen, Terry, Kathryn L, Gayther, Simon A, Goode, Ellen L, Ellen L Goode, Andrew Berchuck, Berchuck, Andrew, Doherty, Jennifer A   +67 more
core   +1 more source

Gene–environment interactions [PDF]

Genetics in Medicine, 2015
openaire   +2 more sources

USP29‐regulated noncanonical stabilization of the hypoxia‐inducible factor‐α in aggressive prostate cancer

Molecular Oncology, EarlyView.
We identify USP29 as the only DUB mirroring CA9 expression, a marker of hypoxia and HIF pathway activation associated with PCA aggressiveness. USP29 stabilizes HIF‐1α and HIF‐2α via a noncanonical mechanism that is independent of PHD/pVHL activity yet relies on proteasomal regulation, establishing USP29 as a previously unrecognized regulator of hypoxic
Amelie S Schober, Leire Moreno‐Cugnon, Laura Martínez‐Pérez, Amaia Ercilla, Amaia Zabala‐Letona, Adrián Vicente‐Barrueco, Maider Fagoaga‐Eugui, Saioa Garcia‐Longarte, Blanca Calle‐Ciborro, Encarnación Pérez‐Andrés, Onintza Carlevaris, Sara Pozo, Isabel Mendizabal, Ugo Mayor, Arkaitz Carracedo, Violaine Sée, Edurne Berra   +16 more
wiley   +1 more source

Study on the Interaction Between C3 Gene Polymorphism and Environment in Patients with Type 2 Diabetes Combined with Coronary Artery Disease

Diabetes, Metabolic Syndrome and Obesity
Haitang Qiu,1,* Shajidan Abudureyimu,1,* Mengjia Liu,1 Fen Liu,2 Ying Gao1 1Department of Comprehensive Internal Medicine, The First Affiliated Hospital of Xinjiang Medical University, Urumqi, Xinjiang, People’s Republic of China; 2State Key ...
Qiu H, Abudureyimu S, Liu M, Liu F, Gao Y   +4 more
doaj  

Polymorphism in Genes Encoding HSP40 Family Proteins is Associated with Ischemic Stroke Risk and Brain Infarct Size: A Pilot Study

Journal of Integrative Neuroscience
Background: Heat shock proteins (HSPs) play a critical role in the molecular mechanisms of ischemic stroke (IS). A possible role for HSP40 family proteins in atherosclerosis progression has already been revealed; however, to date ...
Ksenia A. Kobzeva, Denis E. Gurtovoy, Alexey V. Polonikov, Vladimir M. Pokrovsky, Evgeny A. Patrakhanov, Olga Y. Bushueva   +5 more
doaj   +1 more source

Finding novel vulnerabilities of hypomorphic BRCA1 alleles

Molecular Oncology, EarlyView.
Synthetic lethality screens performed to identify novel vulnerabilities often model complete gene loss, thereby overlooking patient‐derived hypomorphic mutations. In this study, we have performed genome‐wide CRISPR screens on BRCA1 hypomorphic mutations, showing BRCA1I26A behaves like wild‐type, while BRCA1R1699Q mimics deficiency. Furthermore, we have
Anne Schreuder, Klaas de Lint, Hồ Mỹ Phúc Võ, Mariana M. Góis, Rosalie A. Kampen, Marta San Martin Alonso, Ilse Nootenboom, Veronica Garzero, Tiemen J. Wendel, Rob M. F. Wolthuis, Sylvie M. Noordermeer   +10 more
wiley   +1 more source