Results 201 to 210 of about 317,261 (329)

The Impact of Genetic Polymorphisms on Genotoxicity (DNA Damage) Among Children Exposed to Environmental Mutagens: A Systematic Review

Journal of Applied Toxicology, EarlyView.
ABSTRACT Children, as a particularly vulnerable group, are more susceptible to these mutagens due to their developing immune systems, higher physiological vulnerability, and increased exposure through behaviors like outdoor play and hand‐to‐mouth activities. This review aims to investigate the relationship between these environmental exposures, genetic
Thiago Guedes Pinto, Daniel Vitor de Souza, Gabriel Carvalhal de Aguiar, Ana Claudia Muniz Renno, Patricia Ramos Cury, Jean Nunes dos Santos, Rogerio Aparecido Dedivitis, Daniel Araki Ribeiro   +7 more
wiley   +1 more source

Genetic analysis of an asymptomatic female with a large Xp deletion revealed insights into the X chromosome inactivation pattern: a case report. [PDF]

Mol Cytogenet
Zhang LJ, Liu WL, Shao SY, Xu Y, Zhou L.
europepmc   +1 more source

Trisomy X conferring moderate hemophilia A by extremely skewed X-chromosome inactivation. [PDF]

Res Pract Thromb Haemost, 2023
Shinozawa K, Niiya K, Fujimoto S, Bingo M, Fukutake K, Kinai E.   +5 more
europepmc   +1 more source

Mechanistic insights in X-chromosome inactivation

Philosophical Transactions of the Royal Society B: Biological Sciences, 2017
Zhipeng Lu, Ava C. Carter, Howard Y. Chang   +2 more
semanticscholar   +1 more source

On‐site pilot‐scale advanced oxidation pretreatment of hospital wastewater: assessment of pharmaceuticals, pathogens, antibiotic resistance genes and acute ecotoxicity

Journal of Chemical Technology &Biotechnology, EarlyView.
Abstract BACKGROUND Hospital premises generate wastewater containing a wide spectrum of contaminants, such as pharmaceutically active compounds (PhACs), antibiotic resistance genes (ARGs) and pathogenic microorganisms, whilst plenty of them are classified under the antibiotic resistant bacteria (ΑRΒ) category.
Andreas Kaliakatsos, Iosifina Gounaki, Spyros Dokianakis, Georgios Gkotsis, Maria‐Christina Nika, Eleni Aleiferi, Athanasios S Stasinakis, Nikos Katsarakis, Nikolaos S Thomaidis, Thrassyvoulos Manios, Michalis S Fountoulakis, Danae Venieri   +11 more
wiley   +1 more source

Targeting microRNA-dependent control of X chromosome inactivation improves the Rett Syndrome phenotype. [PDF]

Nat Commun
Lou S, DJiake Tihagam R, Wasko UN, Equbal Z, Venkatesan S, Braczyk K, Przanowski P, Il Koo B, Saltani I, Singh AT, Likhite S, Powers S, Souza GMPR, Maxwell RA, Yu J, Zhu LJ, Beenhakker M, Abbott SBG, Lu Z, Green MR, Meyer KC, Tushir-Singh J, Bhatnagar S.   +22 more
europepmc   +1 more source

TLR8 escapes X chromosome inactivation in human monocytes and CD4⁺ T cells. [PDF]

Biol Sex Differ, 2023
Youness A, Cenac C, Faz-López B, Grunenwald S, Barrat FJ, Chaumeil J, Mejía JE, Guéry JC.   +7 more
europepmc   +1 more source

Demographic and Clinical Characteristics of Early‐Onset Colorectal Cancer in Sweden and Finland: A Multicentre Retrospective Cohort Study Over Three Decades

Journal of Surgical Oncology, EarlyView.
ABSTRACT Colorectal cancer is the third most common cancer worldwide, and the proportion of individuals diagnosed under the age of 50 years, referred to as early‐onset colorectal cancer (EOCRC), is increasing. The aim of this study was to evaluate how the demographic and clinical features of EOCR in northern Sweden and Finland have changed over time ...
Melina Charalambidi, Tanja Hukkinen, Tuomas Kaprio, Sofia Edin, Mats Hjortborg, Cecilia Williams, Jaana Hagström, Caj Haglund, Richard Palmqvist, Karin Strigård, Camilla Böckelman, Ioannis Gkekas   +11 more
wiley   +1 more source

X-linked Deficiency in ELF4 in Females with Skewed X Chromosome Inactivation. [PDF]

J Clin Immunol
Zhao R, Zhang Z, Mei S, Sun L, Zhang Q, Lv Q, Zhou F, Sun G, Zhou L, Tang X, An Y, Liu Z, Zhao X, Du H.   +13 more
europepmc   +1 more source

Airway Involvement in Conradi–Hünermann–Happle Syndrome: A Novel Clinical Manifestation

The Laryngoscope, EarlyView.
We report the first documented case of airway involvement in Conradi–Hünermann–Happle syndrome (CDPX2), an X‐linked dominant form of chondrodysplasia punctata caused by pathogenic variants in EBP. A 2‐month‐old female with genetically confirmed CDPX2 developed severe subglottic stenosis and persistent respiratory distress requiring CPAP; cross ...
Enrique G. Villarreal, Jackie Chiang, Evan J. Propst, Nikolaus E. Wolter   +3 more
wiley   +1 more source