Results 81 to 90 of about 591,252 (334)

Analysis of genetic differences between psychiatric disorders: Exploring pathways and cell-types/tissues involved and ability to differentiate the disorders by polygenic scores [PDF]

arXiv, 2020
Although displaying genetic correlations, psychiatric disorders are clinically defined as categorical entities as they each have distinguishing clinical features and may involve different treatments. Identifying differential genetic variations between these disorders may reveal how the disorders differ biologically and help to guide more personalized ...
arxiv  

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

Advances in Clinical Genetics of the Ehlers-Danlos Syndromes

罕见病研究
The Ehlers-Danlos syndromes (EDS) are a group of rare hereditary connective tissue disorders characterized by joint hypermobility, skin hyperextensibility, and tissue fragility.
XU Kexin, LI Guozhuang, LI Qing, YIN Xiangjie, FANG Kun, WU Zhihong, ZHANG Jianguo, DISCO (Deciphering Disorders Involving Scoliosis ＆ COmorbidities) Study Group, WU Nan   +8 more
doaj   +1 more source

LitGen: Genetic Literature Recommendation Guided by Human Explanations [PDF]

arXiv, 2019
As genetic sequencing costs decrease, the lack of clinical interpretation of variants has become the bottleneck in using genetics data. A major rate limiting step in clinical interpretation is the manual curation of evidence in the genetic literature by highly trained biocurators.
arxiv  

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

Mapping the use of cardiovascular genetic services in pediatric clinical care: challenges and opportunities for improvement

Frontiers in Genetics
PurposeClinical genetic testing is increasingly integrated in managing and diagnosing cardiac conditions and disease. It is important to identify ongoing challenges.
Kerstin Hundal, Courtney L. Scherr, Hoda Fakhari, Sanjana Ramesh, Lisa Dellefave-Castillo, Deb Duquette, Sara Cherny, Elizabeth M. McNally, Gregory Webster, Laura J. Rasmussen-Torvik, Laura J. Rasmussen-Torvik   +10 more
doaj   +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

Rare Genetic Diseases: Nature's Experiments on Human Development

iScience, 2020
Rare genetic diseases are the result of a continuous forward genetic screen that nature is conducting on humans. Here, we present epistemological and systems biology arguments highlighting the importance of studying these rare genetic diseases.
Chelsea E. Lee, Kaela S. Singleton, Melissa Wallin, Victor Faundez   +3 more
doaj  

Clinical Genetics of Alzheimer’s Disease

BioMed Research International, 2014
Alzheimer’s disease (AD) is the most common progressive neurodegenerative disease and the most common form of dementia in the elderly. It is a complex disorder with environmental and genetic components. There are two major types of AD, early onset and the more common late onset.
Huapin Huang, Zhang-Yu Zou, Chang-Yun Liu, Chun-Hui Che   +3 more
openaire   +2 more sources

Circulating tumor DNA (ctDNA) trajectories predict survival in trifluridine/tipiracil‐treated metastatic colorectal cancer patients

Molecular Oncology, EarlyView.
The authors applied joint/mixed models that predict mortality of trifluridine/tipiracil‐treated metastatic colorectal cancer patients based on circulating tumor DNA (ctDNA) trajectories. Patients at high risk of death could be spared aggressive therapy with the prospect of a higher quality of life in their remaining lifetime, whereas patients with a ...
Matthias Unseld, Stefan Kühberger, Ricarda Graf, Christine Beichler, Markus Braun, Nadia Dandachi, Ellen Heitzer, Gerald W. Prager   +7 more
wiley   +1 more source