Results 141 to 150 of about 3,646,381 (383)

Knot Floer homology, genus bounds, and mutation [PDF]

, 2003
In an earlier paper, we introduced a collection of graded Abelian groups $\HFKa(Y,K)$ associated to knots in a three-manifold. The aim of the present paper is to investigate these groups for several specific families of knots, including the Kinoshita ...
Ozsvath, Peter, Szabo, Zolta
core   +4 more sources

Risks of Lynch syndrome cancers for MSH6 mutation carriers.

Journal of the National Cancer Institute, 2010
BACKGROUND Germline mutations in MSH6 account for 10%-20% of Lynch syndrome colorectal cancers caused by hereditary DNA mismatch repair gene mutations.
L. Baglietto, N. Lindor, J. Dowty, Darren M White, A. Wagner, E. G. Gómez Garcia, A. Vriends, Nicola Cartwright, R. Barnetson, S. Farrington, A. Tenesa, H. Hampel, D. Buchanan, S. Arnold, Joanne P Young, M. Walsh, J. Jass, F. Macrae, Y. Antill, I. Winship, G. Giles, J. Goldblatt, S. Parry, G. Suthers, B. Leggett, Malinda L. Butz, M. Aronson, J. Poynter, J. Baron, L. Le Marchand, R. Haile, S. Gallinger, J. Hopper, J. Potter, A. de la Chapelle, H. Vasen, M. Dunlop, S. Thibodeau, M. Jenkins   +38 more
semanticscholar   +1 more source

Germline variants in CDKN2A wild‐type melanoma prone families

Molecular Oncology, EarlyView.
Among melanoma‐prone families, wild‐type for CDKN2A and CDK4, some have pathogenic variants in genes not usually linked to melanoma. Furthermore, rare XP‐related variants and variants in MC1R are enriched in such families. Germline pathogenic variants in CDKN2A are well established as an underlying cause of familial malignant melanoma. While pathogenic
Gjertrud T. Iversen, Marie Loeng, Amalie Lund Holth, Per E. Lønning, Jürgen Geisler, Stian Knappskog   +5 more
wiley   +1 more source

Fitness Estimation for Genetic Evolution of Bacterial Populations [PDF]

arXiv, 2018
In this paper we develop and test algorithmic techniques to estimate genotypes fitnesses by analysis of observed daily frequency data monitoring the long-term evolution of bacterial populations. In particular, we develop a non-linear least squares approach to estimate selective advantages of emerging new mutant strains in locked-box stochastic models ...
arxiv  

Exome sequencing identifies a spectrum of mutation frequencies in advanced and lethal prostate cancers

Proceedings of the National Academy of Sciences of the United States of America, 2011
To catalog protein-altering mutations that may drive the development of prostate cancers and their progression to metastatic disease systematically, we performed whole-exome sequencing of 23 prostate cancers derived from 16 different lethal metastatic ...
Akash Kumar, Thomas A. White, Alexandra P. MacKenzie, Nigel Clegg, Choli Lee, R. Dumpit, Ilsa M Coleman, Sarah B. H. Ng, S. Salipante, M. Rieder, D. Nickerson, E. Corey, P. Lange, C. Morrissey, R. Vessella, P. Nelson, J. Shendure   +16 more
semanticscholar   +1 more source

Targeting the AKT/mTOR pathway attenuates the metastatic potential of colorectal carcinoma circulating tumor cells in a murine xenotransplantation model

Molecular Oncology, EarlyView.
Dual targeting of AKT and mTOR using MK2206 and RAD001 reduces tumor burden in an intracardiac colon cancer circulating tumor cell xenotransplantation model. Analysis of AKT isoform‐specific knockdowns in CTC‐MCC‐41 reveals differentially regulated proteins and phospho‐proteins by liquid chromatography coupled mass spectrometry. Circulating tumor cells
Daniel J. Smit, Thais Pereira‐Veiga, Helena Brauer, Michael Horn, Paula Nissen, Thomas Mair, Bente Siebels, Hannah Voß, Ruimeng Zhuang, Marie‐Therese Haider, Desiree Loreth, Margarita Iskhakova, Bele Lindemann, Julian Kött, Laure Cayrefourcq, Jasmin Wellbrock, Hartmut Schlüter, Klaus Pantel, Catherine Alix‐Panabières, Manfred Jücker   +19 more
wiley   +1 more source

TP53 mutations in de novo acute myeloid leukemia patients: longitudinal follow-ups show the mutation is stable during disease evolution

Blood Cancer Journal, 2015
The TP53 mutation is frequently detected in acute myeloid leukemia (AML) patients with complex karyotype (CK), but the stability of this mutation during the clinical course remains unclear.
H. Hou, W. Chou, Yuan-Yeh Kuo, Liu Cy, L-I Lin, Mei‐Hsuan Tseng, Chiang Yc, Ming‐Chih Liu, Chia‐Wen Liu, Jih-Luh Tang, M. Yao, C. Li, Shang‐Yi Huang, B. Ko, Hsu Sc, Chien-Yuan Chen, Chad Lin, Shang-Ju Wu, W. Tsay, Chen Yc, H. Tien   +20 more
semanticscholar   +1 more source

Tonic signaling of the B‐cell antigen‐specific receptor is a common functional hallmark in chronic lymphocytic leukemia cell phosphoproteomes at early disease stages

Molecular Oncology, EarlyView.
B‐cell chronic lymphocytic leukemia (B‐CLL) and monoclonal B‐cell lymphocytosis (MBL) show altered proteomes and phosphoproteomes, analyzed using mass spectrometry, protein microarrays, and western blotting. Identifying 2970 proteins and 316 phosphoproteins, including 55 novel phosphopeptides, we reveal BCR and NF‐kβ/STAT3 signaling in disease ...
Paula Díez, Pablo Juanes‐Velasco, Marina L. García‐Vaquero, Conrad Droste, Alicia Landeira‐Viñuela, Miguel Alcoceba, Helena Fidalgo‐Gómez, Sara Misiego‐Herrero, Almudena Navarro‐Bailón, Mónica Baile, José M. Bastida, Jose Manuel Sanchez‐Santos, Rafael Góngora, Julia Almeida, Marcos Gonzalez‐Diaz, Alberto Orfao, Javier De Las Rivas, Manuel Fuentes   +17 more
wiley   +1 more source

De novo mutation in the NOTCH3 gene causing CADASIL

Biomolecules & Biomedicine, 2014
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) is one of the most common hereditary forms of stroke, and migraine with aura, mood disorders and dementia.
Dragan Stojanov, Danijela Grozdanović, Sladjana Petrović, Daniela Benedeto-Stojanov, Ivan Stefanović, Nebojša Stojanović, Dušica N. Ilić   +6 more
doaj   +1 more source

Mutation prevalence tables for hereditary cancer derived from multigene panel testing

Human Mutation, 2019
Multigene panel testing for cancer predisposition mutations is becoming routine in clinical care. However, the gene content of panels offered by testing laboratories vary significantly, and data on mutation detection rates by gene and by the panel is ...
S. Hart, E. Polley, A. Yussuf, S. Yadav, D. Goldgar, Chunling Hu, H. LaDuca, L. P. Smith, J. Fujimoto, Shuwei Li, F. Couch, Jill S. Dolinsky   +11 more
semanticscholar   +1 more source