Results 71 to 80 of about 119,997 (335)

Increased RPA1 gene dosage affects genomic stability potentially contributing to 17p13.3 duplication syndrome [PDF]

, 2011
A novel microduplication syndrome involving various-sized contiguous duplications in 17p13.3 has recently been described, suggesting that increased copy number of genes in 17p13.3, particularly PAFAH1B1, is associated with clinical features including ...
A Slupianek, A Slupianek, AZ Al-Minawi, BC O'Connell, C Cardoso, C Cardoso, C Cardoso, C Kerzendorfer, C Richardson, D Bruno, D Jackson, D Ray, D Ray, E Fanning, EI Golub, Emily Outwin, F Daboussi, F Liang, Gillian Carpenter, H Yan, HL Klein, J-i Nakayama, James R. Lupski, K Toyo-oka, KM Sleeth, L Roos, L Zou, L Zou, M Kato, M O'Driscoll, MA Shammas, Marjorie A. Withers, Mark O'Driscoll, ME Moynahan, MLG Dronkert, MS Wold, N Zhang, Nancy B. Spinner, PM Kim, R Sotillo, S Nagamani, SJ Haring, SK Binz, T Sugiyama, T Yoshihara, W Bi, W Niu, Weimin Bi, X Deng, Y Wang, Y Wang   +50 more
core   +8 more sources

Frequency and Spectrum of Chromosomal Aberrations, Acrocentric Chromosome Associations Among Long Livers with Arterial Hypertension and Osteoarthritis Residing in the Carpathian Region

Galician Medical Journal, 2017
The frequency and spectrum of chromosomal aberrations, acrocentric chromosome associations among 264 long livers with arterial hypertension and osteoarthritis residing in the Carpathian region were analyzed.
Ruslan Kozoviy
doaj   +1 more source

Chromosomal Aberrations and Schizophrenia [PDF]

British Journal of Psychiatry, 1992
Chromosomal aberrations associated with schizophrenic disorders may suggest regions in which to focus a search for genes predisposing to schizophrenia by a linkage strategy. As for other genetic illnesses, chromosomal abnormalities may also provide useful tools for subsequent physical mapping, fine localisation, and isolation of important ...
openaire   +3 more sources

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

Detecting homologous recombination deficiency for breast cancer through integrative analysis of genomic data

Molecular Oncology, EarlyView.
This study develops a semi‐supervised classifier integrating multi‐genomic data (1404 training/5893 validation samples) to improve homologous recombination deficiency (HRD) detection in breast cancer. Our method demonstrates prognostic value and predicts chemotherapy/PARP inhibitor sensitivity in HRD+ tumours.
Rong Zhu, Katherine Eason, Suet‐Feung Chin, Paul A. W. Edwards, Raquel Manzano Garcia, Richard Moulange, Jia Wern Pan, Soo Hwang Teo, Sach Mukherjee, Maurizio Callari, Carlos Caldas, Stephen‐John Sammut, Oscar M. Rueda   +12 more
wiley   +1 more source

Multicolour interphase cytogenetics: 24 chromosome probes, 6 colours, 4 layers [PDF]

, 2011
From the late 1980s onwards, the use of DNA probes to visualise sequences on individual chromosomes (fluorescent in-situ hybridisation - FISH) revolutionised the study of cytogenetics.
A.R. Thornhill, Abruzzo, Arnold, Camps, Celeda, Cremer, D. Ioannou, D.K. Griffin, Dauwerse, DeSilva, E.J. Meershoek, Egozcue, Emmerich, Ersfeld, Fiegler, Finch, Finch, Foster, Gabriel, Griffin, Griffin, Griffin, Griffin, Griffin, Handyside, Harper, Harper, Harton, Jauch, Julien, Kallioniemi, Kearns, Kolluri, Langer, Lichter, M. Ellis, Mann, Matsuzaki, Muller, Munne, Munne, Munne, Munne, Nederlof, Nordgren, Olszewska, O’Keefe, Pinkel, Quilter, Rennstam, Roberts, Rodriguez, Rottger, Sbracia, Schardin, Schrock, Speicher, Syvanen, Tempest, Tsuchiya, Walling, Wienberg   +61 more
core   +1 more source

Evaluation of the individual radiosensitivity of a person on the basis of differentiated coloring of chromosomes in peripheral blood lymphocytes

Доповiдi Нацiональної академiї наук України, 2019
A determination and a prediction of the individual radiation sensitivity (IRS) of a person remains an actual problem in the field of radiobiology.
E.A. Domina, J.V.Gontar, L.A. Illyuchok, О.O. Grynchenko   +3 more
doaj   +1 more source

Data‐driven discovery of gene expression markers distinguishing pediatric acute lymphoblastic leukemia subtypes

Molecular Oncology, EarlyView.
This study investigates gene expression differences between two major pediatric acute lymphoblastic leukemia (ALL) subtypes, B‐cell precursor ALL, and T‐cell ALL, using a data‐driven approach consisting of biostatistics and machine learning methods. Following analysis of a discovery dataset, we find a set of 14 expression markers differentiating the ...
Mona Nourbakhsh, Nikola Tom, Anna Schrøder Lassen, Helene Brasch Lind Petersen, Ulrik Kristoffer Stoltze, Karin Wadt, Kjeld Schmiegelow, Matteo Tiberti, Elena Papaleo   +8 more
wiley   +1 more source

The level of chromosome aberrations and the activity of chromosomes' kernel-forming areas in the Kursk region

RUDN Journal of Ecology and Life Safety, 2009
The aim of the research is the study of the regularity of the phenotypic manifestation of the level of chromosome aberrations and of the transcriptional activity of chromosomes' kernel-forming areas on the example of arterial hypertension development ...
I N Medvedev, I V Amelina
doaj  

Comprehensive omics‐based classification system in adult patients with B‐cell acute lymphoblastic leukemia

Molecular Oncology, EarlyView.
The COMBAT classification system, developed through multi‐omics integration, stratifies adult patients with B‐cell acute lymphoblastic leukemia(B‐ALL) into three molecular subtypes with distinct surface antigen patterns, immune landscape, methylation patterns, biological pathways and prognosis.
Yang Song, Ting Liu, Qishan Hao, Qiuyun Fang, Xiaoyuan Gong, Yan Li, Zheng Tian, Hui Wei, Min Wang, Jianxiang Wang, Tao Cheng, Yingchang Mi   +11 more
wiley   +1 more source