Results 51 to 60 of about 3,646,381 (383)
Pathogenic POGZ mutation causes impaired cortical development and reversible autism-like phenotypes
Nature Communications, 2020 Pogo transposable element derived with ZNF domain (POGZ) has been identified as one of the most recurrently de novo mutated genes in patients with neurodevelopmental disorders (NDDs), including autism spectrum disorder (ASD), intellectual disability and ...
Kensuke Matsumura +37 more
semanticscholar +1 more source
Correcting the apparent mutation rate acceleration at shorter time scales under a Jukes-Cantor model [PDF]
Molecular Biology and Evolution, Volume 29, Issue 12, December
2012, Pages 3703-3709, 2011 At macroevolutionary time scales, and for a constant mutation rate, there is an expected linear relationship between time and the number of inferred neutral mutations (the "molecular clock"). However, at shorter time scales a number of recent studies have observed an apparent acceleration in the rate of molecular evolution.
arxiv +1 more source
Mutation as a Toxicological Endpoint for Regulatory Decision‐Making
Environmental and Molecular Mutagenesis, 2019 Mutations induced in somatic cells and germ cells are responsible for a variety of human diseases, and mutation per se has been considered an adverse health concern since the early part of the 20th Century.
R. Heflich +7 more
semanticscholar +1 more source
BMC Genomics, 2020 Background Gang goose is a native species with gray plumage in Sichuan, China. As a result of overhunting, the number of gray Gang geese has decreased dramatically. To keep the species from extinction, conservation work for Gang geese was undertaken.
Yang Xi +10 more
doaj +1 more source
Widespread occurrence of the JAK2 V617F mutation in chronic myeloproliferative disorders.
Blood, 2005 The analysis of rare chromosomal translocations in myeloproliferative disorders has highlighted the importance of aberrant tyrosine kinase signaling in the pathogenesis of these diseases.
A. Jones +24 more
semanticscholar +1 more source
International Journal of Cancer, 2020 This study aimed to compare the differences in characteristics and prognoses between Asian and white patients receiving immunotherapy for nonsmall cell lung cancer (NSCLC).
J. Qian +17 more
semanticscholar +1 more source
D-Score: A White-Box Diagnosis Score for CNNs Based on Mutation Operators [PDF]
arXiv, 2023 Convolutional neural networks (CNNs) have been widely applied in many safety-critical domains, such as autonomous driving and medical diagnosis. However, concerns have been raised with respect to the trustworthiness of these models: The standard testing method evaluates the performance of a model on a test set, while low-quality and insufficient test ...
arxiv
A machine learning approach for somatic mutation discovery
Science Translational Medicine, 2018 A machine learning approach to detect somatic mutations in cancer patients outperforms existing methods and may improve clinical outcome. Calling it like the algorithm sees it Somatic mutation calling is essential for the proper diagnosis and treatment ...
Derrick E. Wood +17 more
semanticscholar +1 more source
Somatic mutations of esophageal adenocarcinoma: a comparison between Black and White patients
Scientific Reports, 2023 Abstract Esophageal adenocarcinoma is the most common histological subtype of esophageal cancer in Western countries and shows poor prognosis with rapid growth. EAC is characterized by a strong male predominance and racial disparity. EAC is up to five-fold more common among Whites than Blacks, yet Black patients with EAC have poorer survival ...
Hyeyeun Lim +12 more
openaire +3 more sources
Annals of Neurology, 2016 White matter hyperintensities (WMHs) are areas of increased signal on T2‐weighted magnetic resonance imaging (MRI) scans that most commonly reflect small vessel cerebrovascular disease.
Seonjoo Lee +31 more
semanticscholar +1 more source