Results 71 to 80 of about 964,345 (336)

The X chromosome and sex-specific effects in infectious disease susceptibility

Human Genomics, 2019
The X chromosome and X-linked variants have largely been ignored in genome-wide and candidate association studies of infectious diseases due to the complexity of statistical analysis of the X chromosome.
Haiko Schurz, Muneeb Salie, Gerard Tromp, Eileen G. Hoal, Craig J. Kinnear, Marlo Möller   +5 more
doaj   +1 more source

Detection of circulating tumor DNA in colorectal cancer patients using a methylation‐specific droplet digital PCR multiplex

Molecular Oncology, EarlyView.
We developed a cost‐effective methylation‐specific droplet digital PCR multiplex assay containing tissue‐conserved and tumor‐specific methylation markers. The assay can detect circulating tumor DNA with high accuracy in patients with localized and metastatic colorectal cancer.
Luisa Matos do Canto, Louise Raunkilde, Jan Lindebjerg, Mads Malik Aagaard, Christina Therkildsen, Jakob Kleif, Lars Henrik Jensen, Torben Frøstrup Hansen, Rikke Fredslund Andersen   +8 more
wiley   +1 more source

X-Chromosome dosage compensation [PDF]

WormBook, 2005
In mammals, flies, and worms, sex is determined by distinctive regulatory mechanisms that cause males (XO or XY) and females (XX) to differ in their dose of X chromosomes. In each species, an essential X chromosome-wide process called dosage compensation ensures that somatic cells of either sex express equal levels of X-linked gene products.
openaire   +2 more sources

Complex Evolutionary History of the Y Chromosome in Flies of the Drosophila obscura Species Group. [PDF]

, 2020
The Drosophila obscura species group shows dramatic variation in karyotype, including transitions among sex chromosomes. Members of the affinis and pseudoobscura subgroups contain a neo-X chromosome (a fusion of the X with an autosome), and ancestral Y ...
Bachtrog, Doris, Bracewell, Ryan
core  

Effects of sex chromosome dosage on corpus callosum morphology in supernumerary sex chromosome aneuploidies. [PDF]

, 2014
BackgroundSupernumerary sex chromosome aneuploidies (sSCA) are characterized by the presence of one or more additional sex chromosomes in an individual's karyotype; they affect around 1 in 400 individuals.
Blumenthal, Jonathan D, Giedd, Jay N, Joshi, Shantanu H, Reuter, Martin, Thompson, Paul M, Toga, Arthur W, Wade, Benjamin SC   +6 more
core   +3 more sources

Transcriptional network analysis of PTEN‐protein‐deficient prostate tumors reveals robust stromal reprogramming and signs of senescent paracrine communication

Molecular Oncology, EarlyView.
Combining PTEN protein assessment and transcriptomic profiling of prostate tumors, we uncovered a network enriched in senescence and extracellular matrix (ECM) programs associated with PTEN loss and conserved in a mouse model. We show that PTEN‐deficient cells trigger paracrine remodeling of the surrounding stroma and this information could help ...
Ivana Rondon‐Lorefice, Jose I. Lopez, Aitziber Ugalde‐Olano, Maite Zufiaurre, Ianire Astobiza, Natalia Martin‐Martin, Laura Bozal‐Basterra, Saioa Garcia‐Longarte, Amaia Zabala‐Letona, Sofia Rey, Aida Santos‐Martin, Miguel Unda, Ana Loizaga‐Iriarte, Mariona Graupera, Paolo Nuciforo, Arkaitz Carracedo, Isabel Mendizabal   +16 more
wiley   +1 more source

Inferring the three-dimensional structures of the X-chromosome during X-inactivation

Mathematical Biosciences and Engineering, 2019
The Hi-C experiment can capture the genome-wide spatial proximities of the DNA, based on which it is possible to computationally reconstruct the three-dimensional (3D) structures of chromosomes.
Hao Zhu, Nan Wang, Jonathan Z. Sun, Ras B. Pandey, Zheng Wang   +4 more
doaj   +1 more source

Complex X chromosome rearrangement associated with multiorgan autoimmunity [PDF]

, 2015
BACKGROUND: Turner syndrome, a congenital condition that affects 1/2,500 births, results from absence or structural alteration of the second sex chromosome.
A Franzese, A Grossi, Anikó Somogyi, Antónia Völgyi, Artúr Beke, C Hernando, CC Wong, CH Gravholt, CM Powell, D Chang, D Wechsler, Dezső David, EJ Verver, Eszter Kiss, F Rousseau, F Schmidt, FS Grass, G Horváth, G Koumbaris, GS Letteire, György Fekete, H Pamjav, Henriett Pikó, Horolma Pamjav, I Bianchi, Irén Haltrich, J Auger, KT Jørgensen, ME Ochalski, MJ Schoemaker, MK Kim, N Morimoto, OA Shchelochkov, P Invernizzi, RT Hamza, T Eggermann, T Terano, Veronika Karcagi, VK Bakalov, VK Bakalov, W Gawron, Zoltán Garamvölgyi   +41 more
core   +2 more sources

Crucial parameters for precise copy number variation detection in formalin‐fixed paraffin‐embedded solid cancer samples

Molecular Oncology, EarlyView.
This study shows that copy number variations (CNVs) can be reliably detected in formalin‐fixed paraffin‐embedded (FFPE) solid cancer samples using ultra‐low‐pass whole‐genome sequencing, provided that key (pre)‐analytical parameters are optimized.
Hanne Goris, Vasiliki Siozopoulou, Léon C van Kempen, Anne Sieben, Ella Roelant, Stig Hellemans, Elyne Backx, Laure Sorber, Koen De Winne, Senada Koljenović, Karen Zwaenepoel   +10 more
wiley   +1 more source

Sex-specific Trans-regulatory Variation on the Drosophila melanogaster X Chromosome [PDF]

, 2015
The X chromosome constitutes a unique genomic environment because it is present in one copy in males, but two copies in females. This simple fact has motivated several theoretical predictions with respect to how standing genetic variation on the X ...
A Catalan, AD Cutter, AE Christiansen, AE Wright, AM Lopes, AP Arnold, AP Arnold, B Charlesworth, B Charlesworth, B Charlesworth, B Charlesworth, B Charlesworth, B Lemos, B Reinius, B Vicoso, B Vicoso, Björn Rogell, C Langley, CD Meiklejohn, CD Meiklejohn, CD Meiklejohn, D Bachtrog, D Rearick, DE Cowley, DE Cowley, DJ Fairbairn, E Ladewig, EH Morrow, EJ Gardner, ET Massouras, F Yang, G St Laurent, H Ellegren, H Ellegren, HA Orr, HA Orr, J Bryois, J Haldane, J Parsch, JD Coolon, JD Fry, JE Mank, JE Mank, JE Mank, JF Ayroles, JF Kidwell, JG Ruby, JH Park, Jianzhi Zhang, JM Ranz, JR Gibson, JW Erickson, K Thornton, KV Morris, L Carrel, M Kirkpatrick, M Parisi, M Schvarzstein, M Turelli, Michael Stocks, MJ Simmons, NG Starostina, P Innocenti, PJ Avery, PJ Wijchers, PL Chang, R Dean, R Dean, RA Fisher, RA Irizarry, Rebecca Dean, RM Griffin, RP Meisel, RP Meisel, SF Chenoweth, SP Vensko, T Bedford, T Connallon, T Connallon, T Conrad, T Prout, T Straub, TD Goldman, TFC Mackay, TM Williams, TT Hu, Urban Friberg, VR Chintapalli, W Davies, W Rice, WG Hill, WJ Chung, WR Rice, X Yang, Y Itoh, Y Zhang, YK Kim, ZP Huang   +97 more
core   +4 more sources