Results 91 to 100 of about 127,509 (268)

Genomic analysis of pancreatic juice DNA assesses malignant risk of intraductal papillary mucinous neoplasm of pancreas

Cancer Medicine, 2019
Intraductal papillary mucinous neoplasm (IPMN) of pancreas has a high risk to develop into invasive cancer or co‐occur with malignant lesion. Therefore, it is important to assess its malignant risk by less‐invasive approach.
Raúl N. Mateos, Hidewaki Nakagawa, Seiko Hirono, Shinichi Takano, Mitsuharu Fukasawa, Akio Yanagisawa, Satoru Yasukawa, Kazuhiro Maejima, Aya Oku‐Sasaki, Kaoru Nakano, Munmee Dutta, Hiroko Tanaka, Satoru Miyano, Nobuyuki Enomoto, Hiroki Yamaue, Kenta Nakai, Masashi Fujita   +16 more
doaj   +1 more source

Agent‐Based Simulations of Lung Tumor Evolution Suggest That Ongoing Cell Competition Drives Realistic Clonal Expansions

Advanced Science, EarlyView.
Computational simulations of tumor evolution are increasingly used to infer the rules underlying cancer growth, with the goal of one day recommending tailored treatments. Here we show that the properties of lung cancer sequencing data are best replicated by a model which assumes that cells compete both to proliferate and survive. ABSTRACT Computational
Helena Coggan, James R. M. Black, Carlos Martínez‐Ruiz, Kristiana Grigoriadis, Jasmin Fisher, Nicholas McGranahan   +5 more
wiley   +1 more source

OXidative Stress PREDictor: A Supervised Learning Approach for Annotating Cellular Oxidative Stress States in Inflammatory Cells

Advanced Intelligent Systems, Volume 7, Issue 3, March 2025.
OxSpred, an eXtreme‐Gradient‐Boosting‐‐based supervised learning model, accurately annotates oxidative stress in innate immune cells at the single‐cell level, providing interpretable embeddings with significant biological relevance. This innovative tool revolutionizes the understanding of innate immune cell functions during inflammation and enhances ...
Po‐Yuan Chen, Tai‐Ming Ko
wiley   +1 more source

Establishment and molecular profiling of a PDX model of a metachronous brain tumor in a patient with constitutional mismatch repair deficiency with biallelic MSH6 variant

Animal Models and Experimental Medicine
Background Constitutional mismatch repair deficiency (CMMRD) is a rare disorder resulting from biallelic germline pathogenic variants in mismatch repair genes.
Daniel Antunes Moreno, Bruna Minniti Mançano, Mirella Baroni, Eric Allison Philot, Felipe Antonio deOliveira Garcia, Murilo Bonatelli, Flávia Escremim dePaula, Iara Viana Vidigal Santana, Gustavo Ramos Teixeira, Mauricio Yamanari, Luciane Sussuchi daSilva, André Escremim dePaula, Augusto Perazzolo Antoniazzi, Adrian Willig, Xiaobin Xing, Zhenyu Xu, Lucas Lourenço, Carlos Almeida Junior, Silvia Aparecida Teixeira, Rui Manuel Reis   +19 more
doaj   +1 more source

Exome Sequencing: Current and Future Perspectives

G3 Genes|Genomes|Genetics, 2015
The falling cost of DNA sequencing has made the technology af fordable to many research groups, enabling researchers to link genomic variants to observed phenotypes in a range of species. This review focusses on whole exome sequencing and its applications in humans and other species.
Warr, Amanda, Robert, Christelle, Hume, David, Archibald, Alan, Deeb, Nader, Watson, Mick   +5 more
openaire   +6 more sources

The Homozygous p.(Arg215Ter) Variant in XRCC2 Is Associated With Atypical Fanconi Anemia Without Major Hematological Abnormalities in Childhood

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Fanconi Anemia (FA) is the most frequent inherited bone marrow failure syndrome. A role for the XRCC2 gene in FA was suspected in 2012 and confirmed in 2016, but only two affected individuals have been described thus far, and no long‐term follow‐up is available.
Sabina Cenciarelli, Giulia Bruna Marchetti, Maria Iascone, Maria Grazia Patricelli, Sara Giangiobbe, Gabriella Cinzia Pozzobon, Miriam Nella Savini, Fabio Giglio, Alessandro Aiuti, Paola Carrera, Francesca Ferrua, Angela Peron   +11 more
wiley   +1 more source

Case Report: Concurrent de novo pathogenic variants in the LMNA gene as a cause of sporadic partial lipodystrophy

Frontiers in Genetics
IntroductionInherited lipodystrophies are a group of rare diseases defined by severe reduction in adipose tissue mass and classified as generalized or partial.
José L. Santos, José L. Santos, José Patricio Miranda, José Patricio Miranda, Carlos F. Lagos, Carlos F. Lagos, Víctor A. Cortés   +6 more
doaj   +1 more source

Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
wiley   +1 more source

Favoriser l'autonomie du patient face aux données additionnelles en médecine génomique

Canadian Journal of Bioethics, 2019
Depuis ces dernières années, nous assistons à une révolution technologique en génétique moléculaire avec l’avènement du séquençage de nouvelle génération (NGS).
Guillaume Durand, Manon Guillet, Sandra Mercier   +2 more
doaj   +1 more source

Expressed exome capture sequencing: A method for cost‐effective exome sequencing for all organisms

Molecular Ecology Resources, 2018
Abstract Exome capture is an effective tool for surveying the genome for loci under selection. However, traditional methods require annotated genomic resources. Here, we present a method for creating cDNA probes from expressed mRNA ...
Jonathan B. Puritz, Katie E. Lotterhos
openaire   +4 more sources