Results 91 to 100 of about 3,191,200 (316)

Reducing the exome search space for Mendelian diseases using genetic linkage analysis of exome genotypes

Genome Biology, 2011
Many exome sequencing studies of Mendelian disorders fail to optimally exploit family information. Classical genetic linkage analysis is an effective method for eliminating a large fraction of the candidate causal variants discovered, even in small ...
Katherine R. Smith, C. Bromhead, M. Hildebrand, A. Shearer, P. Lockhart, H. Najmabadi, R. Leventer, G. McGillivray, D. Amor, Richard J. H. Smith, M. Bahlo   +10 more
semanticscholar   +1 more source

Cell‐free and extracellular vesicle microRNAs with clinical utility for solid tumors

Molecular Oncology, EarlyView.
Cell‐free microRNAs (cfmiRs) are small‐RNA circulating molecules detectable in almost all body biofluids. Innovative technologies have improved the application of cfmiRs to oncology, with a focus on clinical needs for different solid tumors, but with emphasis on diagnosis, prognosis, cancer recurrence, as well as treatment monitoring.
Yoshinori Hayashi, Janelle‐Cheri Millen, Romela Irene Ramos, Jennifer A. Linehan, Timothy G. Wilson, Dave S. B. Hoon, Matias A. Bustos   +6 more
wiley   +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

Linkage and related analyses of Barrett's esophagus and its associated adenocarcinomas [PDF]

, 2016
BACKGROUND: Familial aggregation and segregation analysis studies have provided evidence of a genetic basis for esophageal adenocarcinoma (EAC) and its premalignant precursor, Barrett's esophagus (BE).
Abrams, Julian A., Barnholtz-Sloan, Jill S., Brock, Wendy, Canto, Marcia I., Chak, Amitabh, Chandar, Apoorva, Elston, Robert, Falk, Gary W., Faulx, Ashley, Grady, William M., Guda, Kishore, Iyer, Prasad G., Markowitz, Sanford, Mittal, Sumeet K., Shaheen, Nicholas J., Sun, Xiangqing, Wang, Jean S., Willis, Joseph E.   +17 more
core   +2 more sources

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

De novo construction of polyploid linkage maps using discrete graphical models [PDF]

arXiv, 2017
Linkage maps are used to identify the location of genes responsible for traits and diseases. New sequencing techniques have created opportunities to substantially increase the density of genetic markers. Such revolutionary advances in technology have given rise to new challenges, such as creating high-density linkage maps.
arxiv  

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

De novo SNP discovery and genetic linkage mapping in poplar using restriction site associated DNA and whole-genome sequencing technologies [PDF]

, 2016
Detailed information on genetic distance and linkage phase between adjacent SNP markers on the genetic linkage map of the female P. deltoides ‘I-69’. The corresponding identical SNPs identified based on the P.
Chunfa Tong, Fenxiang Liu, Huogen Li, Jisen Shi, Jiyan Wu, Mohaddeseh Mousavi, Shentong Tao   +6 more
core   +4 more sources

Integrative systems‐level analysis reveals a contextual crosstalk between hypoxia and global metabolism in human breast tumors

Molecular Oncology, EarlyView.
Breast tumor samples scored for metabolic deregulation (M1 to M3) were given a hypoxia score (HS). The highest HS occurred in patients with strongest metabolic deregulation (M3), supporting tumor aggressiveness. HS correlated with the highest number of metabolic pathways in M1. This suggests hypoxia to be an early event in metabolic deregulation.
Raefa Abou Khouzam, Salem Chouaib, Mohammad Askandar Iqbal   +2 more
wiley   +1 more source

Stable cycling in quasi-linkage equilibrium: fluctuating dynamics under gene conversion and selection [PDF]

arXiv, 2019
Genetic systems with multiple loci can have complex dynamics. For example, mean fitness need not always increase and stable cycling is possible. Here, we study the dynamics of a genetic system inspired by the molecular biology of recognition-dependent double strand breaks and repair as it happens in recombination hotspots.
arxiv