Results 121 to 130 of about 12,192,107 (344)

Supervised Heterogeneous Multiview Learning for Joint Association Study and Disease Diagnosis [PDF]

arXiv, 2013
Given genetic variations and various phenotypical traits, such as Magnetic Resonance Imaging (MRI) features, we consider two important and related tasks in biomedical research: i)to select genetic and phenotypical markers for disease diagnosis and ii) to identify associations between genetic and phenotypical data.
arxiv  

UK Biobank: An Open Access Resource for Identifying the Causes of a Wide Range of Complex Diseases of Middle and Old Age

PLoS Medicine, 2015
Cathie Sudlow and colleagues describe the UK Biobank, a large population-based prospective study, established to allow investigation of the genetic and non-genetic determinants of the diseases of middle and old age.
C. Sudlow, J. Gallacher, N. Allen, V. Beral, P. Burton, J. Danesh, P. Downey, P. Elliott, J. Green, M. Landray, Bette Liu, P. Matthews, G. Ong, J. Pell, A. Silman, A. Young, Tim Sprosen, T. Peakman, R. Collins   +18 more
semanticscholar   +1 more source

Cellular liquid biopsy provides unique chances for disease monitoring, preclinical model generation and therapy adjustment in rare salivary gland cancer patients

Molecular Oncology, EarlyView.
We quantified and cultured circulating tumor cells (CTCs) of 62 patients with various cancer types and generated CTC‐derived tumoroid models from two salivary gland cancer patients. Cellular liquid biopsy‐derived information enabled molecular genetic assessment of systemic disease heterogeneity and functional testing for therapy selection in both ...
Nataša Stojanović Gužvić, Florian Lüke, Steffi Treitschke, Andrea Coluccio, Martin Hoffmann, Giancarlo Feliciello, Adithi Ravikumar Varadarajan, Xin Lu, Kathrin Weidele, Catherine Botteron, Silvia Materna–Reichelt, Felix Keil, Katja Evert, Florian Weber, Thomas Schamberger, Michael Althammer, Jirka Grosse, Dirk Hellwig, Christian Schulz, Stephan Seitz, Peter Ugocsai, Anke Schlenska‐Lange, Roman Mayr, Ulrich Kaiser, Wolfgang Dietmaier, Bernhard Polzer, Jens Warfsmann, Kamran Honarnejad, Tobias Pukrop, Daniel Heudobler, Christoph A. Klein, Christian Werno   +31 more
wiley   +1 more source

Mitochondrial response to nutrient availability and its role in metabolic disease

EMBO Molecular Medicine, 2014
Metabolic inflexibility is defined as an impaired capacity to switch between different energy substrates and is a hallmark of insulin resistance and type 2 diabetes mellitus (T2DM).
Arwen W Gao, Carles Cantó, Riekelt H Houtkooper   +2 more
doaj   +1 more source

THE “HOST FACTOR” IN DISEASE: GENETIC AND ENVIRONMENTAL INTERACTION [PDF]

, 1961
Richard H. Osborne
openalex   +1 more source

PhenomeCentral: A Portal for Phenotypic and Genotypic Matchmaking of Patients with Rare Genetic Diseases

Human Mutation, 2015
The discovery of disease‐causing mutations typically requires confirmation of the variant or gene in multiple unrelated individuals, and a large number of rare genetic diseases remain unsolved due to difficulty identifying second families.
Orion J. Buske, M. Gîrdea, Sergiu Dumitriu, Bailey Gallinger, T. Hartley, Heather P Trang, A. Misyura, Tal Friedman, C. Beaulieu, W. Bone, Amanda E Links, N. Washington, M. Haendel, Peter N. Robinson, C. Boerkoel, D. Adams, W. Gahl, K. Boycott, M. Brudno   +18 more
semanticscholar   +1 more source

Targeting rapid TKI‐induced AXL upregulation overcomes adaptive ERK reactivation and exerts antileukemic effects in FLT3/ITD acute myeloid leukemia

Molecular Oncology, EarlyView.
Adaptive ERK reactivation hinders FLT3 tyrosine kinase inhibitor (TKI) treatment in FLT3/ITD acute myeloid leukemia. Here, we report that FLT3 TKI treatment rapidly induces AXL expression and upregulation that is temporally associated with the adaptive ERK reactivation.
Tessa S. Seale, Li Li, J. Kyle Bruner, Melody Chou, Bao Nguyen, Jaesung Seo, Ruiqi Zhu, Mark J. Levis, Christine A. Pratilas, Donald Small   +9 more
wiley   +1 more source

The Genetic Disease, Hypoascorbemia: A Fresh Approach to an Ancient Disease and Some of its Medical Implications [PDF]

, 1967
Irwin Stone
openalex   +1 more source

Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios

Genetics in Medicine, 2015
Purpose:Despite the recognized clinical value of exome-based diagnostics, methods for comprehensive genomic interpretation remain immature. Diagnoses are based on known or presumed pathogenic variants in genes already associated with a similar phenotype.
Xiaoling Zhu, S. Petrovski, S. Petrovski, Pingxing Xie, Pingxing Xie, E. Ruzzo, Yi-Fan Lu, K. M. McSweeney, B. Ben-Zeev, B. Ben-Zeev, A. Nissenkorn, A. Nissenkorn, Y. Anikster, Y. Anikster, D. Oz-Levi, R. Dhindsa, Y. Hitomi, Y. Hitomi, K. Schoch, Rebecca C. Spillmann, G. Heimer, D. Marek‐Yagel, M. Tzadok, M. Tzadok, Yujun Han, G. Worley, J. Goldstein, Yong-hui Jiang, D. Lancet, E. Pras, V. Shashi, D. Mchale, A. Need, A. Need, D. Goldstein   +34 more
semanticscholar   +1 more source

Combined spatially resolved metabolomics and spatial transcriptomics reveal the mechanism of RACK1‐mediated fatty acid synthesis

Molecular Oncology, EarlyView.
The authors analyzed the spatial distributions of gene and metabolite profiles in cervical cancer through spatial transcriptomic and spatially resolved metabolomic techniques. Pivotal genes and metabolites within these cases were then identified and validated.
Lixiu Xu, Jinqiu Li, Junqi Ma, Ayshamgul Hasim   +3 more
wiley   +1 more source