Results 71 to 80 of about 2,151,922 (308)

Clinical Impact of MGMT Promoter Methylation in IDH‐Mutant Gliomas: Influence of Threshold Selection and Clinical Confounding

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background The clinical relevance of MGMT promoter methylation in IDH‐mutant gliomas remains controversial in the era of molecular classification. We aimed to systematically evaluate its clinical relevance by integrating quantitative assessment, cutoff exploration, and adjustment for clinical confounding.
Haihui Jiang, Linxi Cao, Xiaodong Chen, Siqi Tong, Qinghui Zhu, Jun Yang, Song Lin, Yong Cui   +7 more
wiley   +1 more source

Evidence-based recommendations for delivering the diagnosis of X & Y chromosome multisomies in children, adolescents, and young adults: an integrative review

BMC Pediatrics
Background The diagnosis of supernumerary X & Y chromosome variations has increased following the implementation of genetic testing in pediatric practice. Empirical evidence suggests that the delivery of the diagnosis has a lasting impact on how affected
Kirsten A. Riggan, Kelly E. Ormond, Megan A. Allyse, Sharron Close   +3 more
doaj   +1 more source

The Staurotypus turtles and aves share the same origin of sex chromosomes but evolved different types of heterogametic sex determination.

PLoS ONE, 2014
Reptiles have a wide diversity of sex-determining mechanisms and types of sex chromosomes. Turtles exhibit temperature-dependent sex determination and genotypic sex determination, with male heterogametic (XX/XY) and female heterogametic (ZZ/ZW) sex ...
Taiki Kawagoshi, Yoshinobu Uno, Chizuko Nishida, Yoichi Matsuda   +3 more
doaj   +1 more source

LG24 and sex chromosomes

Oncotarget, 2015
The grass carp (Ctenopharyngodon idella) is one of the most important freshwater fish species in China and the world; grass carp production accounts for about 16% of the world's total freshwater aquaculture [1]. In 2015, Wang et al. performed whole-genome sequencing and de novo assembly for a female (0.9 Gb) and male grass carp (1.07 Gb) by using the ...
Rong, Huang, Zuoyan, Zhu, Yaping, Wang
openaire   +2 more sources

Autoimmune Comorbidities as Modifiers of Phenotypic Heterogeneity in Facioscapulohumeral Dystrophy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Facioscapulohumeral dystrophy type 1 (FSHD1) shows clinical heterogeneity that is only partly explained by D4Z4 repeat unit (RU) size. Although immune and inflammatory mechanisms may contribute to disease variability, the prevalence and clinical impact of autoimmune diseases in FSHD remain unclear.
Jonathan Pini, Giulia Tammam, Andra Ezaru, Manuela Gambella, Benoît Sanson, Luisa Villa, Michele Cavalli, Mihai‐Bogdan Ioncea, Angela Puma, Sabrina Sacconi   +9 more
wiley   +1 more source

The Methylome of Vertebrate Sex Chromosomes [PDF]

Genes, 2018
DNA methylation is a key epigenetic modification in vertebrate genomes known to be involved in the regulation of gene expression, X chromosome inactivation, genomic imprinting, chromatin structure, and control of transposable elements. DNA methylation is common to all eukaryote genomes, but we still lack a complete understanding of the variation in DNA
Waters, SA, Capraro, A, McIntyre, KL, Graves, JAM, Waters, PD   +4 more
openaire   +3 more sources

A genetic basis for a postmeiotic X versus Y chromosome intragenomic conflict in the mouse. [PDF]

, 2012
Intragenomic conflicts arise when a genetic element favours its own transmission to the detriment of others. Conflicts over sex chromosome transmission are expected to have influenced genome structure, gene regulation, and speciation.
Shantha K. Mahadevaiah (94714), Nabeel A. Affara (135531), Vaiman, Daniel, Julie Cocquet, Nabeel A Affara, Burgoyne, Paul S., Daniel Vaiman, Cocquet, Julie, Affara, Nabeel A., Julie Cocquet (135523), Mahadevaiah, Shantha K., Ellis, Peter J.I., Peter J I Ellis, Shantha K Mahadevaiah, Daniel Vaiman (83223), Paul S. Burgoyne (94717), Peter J. I. Ellis (135526), Paul S Burgoyne, Ellis Peter J. I., Cocquet Julie, Affara Nabeel A., Mahadevaiah Shantha K., Burgoyne Paul S., Vaiman Daniel   +23 more
core   +1 more source

Myostatin/Smad3 in Spinal Muscular Atrophy: Biomarkers of Disease Severity and Treatment Response

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Given the role of Myostatin (MSTN) in muscle homeostasis and its modulation by current spinal muscular atrophy (SMA) therapies, we investigated serum MSTN and, for the first time, its downstream effector Smad3 as candidate non‐invasive biomarkers in SMA patients undergoing disease‐modifying therapies (DMTs).
Giorgia Riolo, Claudia Dosi, Stefano Parravicini, Riccardo Zanin, Marta Cheli, Eleonora Giacopuzzi Grigoli, Amalia Canciello, Francesca Andreetta, Riccardo Masson, Silvia Bonanno, Stefania Marcuzzo, Lorenzo Maggi   +11 more
wiley   +1 more source

Turnover of sex chromosomes in the Lake Tanganyika cichlid tribe Tropheini (Teleostei: Cichlidae)

Scientific Reports
Sex chromosome replacement is frequent in many vertebrate clades, including fish, frogs, and lizards. In order to understand the mechanisms responsible for sex chromosome turnover and the early stages of sex chromosome divergence, it is necessary to ...
Kristen A. Behrens, Holger Zimmermann, Radim Blažek, Martin Reichard, Stephan Koblmüller, Thomas D. Kocher   +5 more
doaj   +1 more source

Use of laser microdissection for the construction of Humulus japonicus Siebold et Zuccarini, 1846 (Cannabaceae) sex chromosome-specific DNA library and cytogenetics analysis

Comparative Cytogenetics, 2014
Dioecy is relatively rare among plant species, and distinguishable sex chromosomes have been reported in few dioecious species. The multiple sex chromosome system (XX/XY1Y2) of Humulus japonicus Siebold et Zuccarini, 1846 differs from that of other ...
Nickolay Yakovin, Mikhail Divashuk, Nikolay Yakovin, Olga Razumova, Alexander Soloviev, Gennady Karlov   +5 more
doaj   +1 more source