Results 61 to 70 of about 314,978 (365)

Pathogenic Neurofibromatosis type 1 gene variants in tumors of non‐NF1 patients and role of R1276

FEBS Open Bio, EarlyView.
Somatic variants of the neurofibromatosis type 1 (NF1) gene occur across neoplasms without clinical manifestation of the disease NF1. We identified emerging somatic pathogenic NF1 variants and hotspots, for example, at the arginine finger 1276. Those missense variants provide fundamental information about neurofibromin's role in cancer.
Mareike Selig, Swanhild Lohse, Sara Elahi, Nils Hartmann, Stefanie Deckert, Shutian Si, Alexander Desuki, Anja Harder   +7 more
wiley   +1 more source

A machine learning algorithm for the detection of paroxysmal nocturnal haemoglobinuria (PNH) in UK primary care electronic health records

Orphanet Journal of Rare Diseases
Background Paroxysmal Nocturnal Haemoglobinuria (PNH) is an ultra-rare, acquired disorder that is challenging to diagnose due to varied symptoms, heterogeneous patient presentations, and lack of awareness among healthcare professionals.
Amanda Worker, Hadley Mahon, Jack Sams, Freya Boardman-Pretty, Elena Marchini, Rand Dubis, Alan Warren, Jez Stockdale, Jyothika Kumar, Elizabeth Varones, Daniel Ollerenshaw, Calum Grant, Peter Fish, Richard J. Kelly   +13 more
doaj   +1 more source

Copy Number Variants and Their Association With Intracerebral Hemorrhage Risk: A Case–Control Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Introduction Intracerebral Hemorrhage (ICH) is a leading cause of morbidity and mortality worldwide and lacks effective therapeutic interventions. Despite previous studies, the genetic underpinnings of ICH remain poorly understood. We sought to investigate the role of copy number variants (CNVs) in ICH pathophysiology to identify novel ...
Savvina Prapiadou, Carl D. Langefeld, Padmini Sekar, Mary Comeau, Timothy Howard, Tamara N. Kimball, Chen Bowang, Hyacinth I. Hyacinth, Jonathan Rosand, Christopher D. Anderson, Caspar Grond‐Ginsbach, Daniel Woo, Stacie L. Demel   +12 more
wiley   +1 more source

Causal effects of physical activity on the risk of overall ovarian cancer: A Mendelian randomization study

Digital Health, 2023
Objective Inconsistent results were reported on the association of physical activity with ovarian cancer. However, given the limitations of confounders and inverse causation, the validity of the association remained unclear. Therefore, we conducted a two-
Jing Wang, Huanling Zhao, Jiahao Zhu, Minmin Jiang   +3 more
doaj   +1 more source

An alternative to Kitcher's theory of conceptual progress and his account of the change of the gene concept [PDF]

, 2004
The present paper discusses Kitcher’s framework for studying conceptual change and progress. Kitcher’s core notion of reference potential is hard to apply to concrete cases.
Brigandt, Ingo
core   +1 more source

Spatially explicit non-Mendelian diploid model

, 2009
We introduce a spatially explicit model for the competition between type $a$ and type $b$ alleles. Each vertex of the $d$-dimensional integer lattice is occupied by a diploid individual, which is in one of three possible states or genotypes: $aa$, $ab ...
Lanchier, N., Neuhauser, C.
core   +1 more source

Construction of a Multitissue Cell Atlas Reveals Cell‐Type‐Specific Regulation of Molecular and Complex Phenotypes in Pigs

Advanced Science, EarlyView.
This research conducts an in‐depth investigation of cell‐type‐specific regulatory mechanisms underlying molecular and complex phenotypes through integrative analysis of multitissue single‐nucleus RNA sequencing, bulk RNA‐seq, and genome‐wide association study (GWAS) data in pigs.
Lijuan Chen, Houcheng Li, Jinyan Teng, Zhen Wang, Xiaolu Qu, Zhe Chen, Xiaodian Cai, Haonan Zeng, Zhonghao Bai, Jinghui Li, Xiangchun Pan, Leyan Yan, Fei Wang, Lin Lin, Yonglun Luo, Goutam Sahana, Mogens Sandø Lund, Maria Ballester, Daniel Crespo‐Piazuelo, Peter Karlskov‐Mortensen, Merete Fredholm, Alex Clop, Marcel Amills, Crystal Loving, Christopher K. Tuggle, Ole Madsen, Jiaqi Li, Zhe Zhang, George E. Liu, Jicai Jiang, Lingzhao Fang, Guoqiang Yi   +31 more
wiley   +1 more source

Relationship between NAFLD and coronary artery disease: A Mendelian randomization study

Hepatology, EarlyView., 2022
Abstract Background and Aims There is an ongoing debate on whether NAFLD is an active contributor or an innocent bystander in the pathogenesis of coronary artery disease (CAD). The aim of the present study was to assess the causal relationship between NAFLD and CAD.
Zhewen Ren, Pomme I. H. G. Simons, Anke Wesselius, Coen D. A. Stehouwer, Martijn C. G. J. Brouwers   +4 more
wiley   +1 more source

Vitamin D supplementation in the prevention and management of major chronic diseases not related to mineral homeostasis in adults : research for evidence and a scientific statement from the European society for clinical and economic aspects of osteoporosis and osteoarthritis (ESCEO) [PDF]

, 2017
Introduction: Optimal vitamin D status promotes skeletal health and is recommended with specific treatment in individuals at high risk for fragility fractures.
Bertoldo, Francesco, Bischoff-Ferrari, Heike A, Brandi, Maria Luisa, Bruyere, Olivier, Cianferotti, Luisella, Cooper, Cyrus, Cutolo, Maurizio, Kanis, John A, Kaufman, Jean, Reginster, Jean-Yves, Rizzoli, Rene   +10 more
core   +6 more sources

Testing and correcting for weak and pleiotropic instruments in two‐sample multivariable Mendelian randomization

bioRxiv, 2020
Multivariable Mendelian Randomisation (MVMR) is a form of instrumental variable analysis which estimates the direct effect of multiple exposures on an outcome using genetic variants as instruments.
E. Sanderson, Wes Spiller, J. Bowden
semanticscholar   +1 more source