Results 81 to 90 of about 2,310,607 (369)

Analysis of Treacher Collins syndrome 4‐associated mutations in Schizosaccharomyces pombe

FEBS Open Bio, EarlyView.
Fission yeast models carrying Treacher Collins syndrome type 4‐associated mutations reveal that impaired processivity of RNA polymerase I leads to defective rRNA transcription. This study highlights the essential role of a conserved arginine residue in Pol I elongation and provides mechanistic insight into the pathogenesis of ribosomopathies.
Kei Kawakami, Hiroaki Kato
wiley   +1 more source

Chromosomal Abnormalities Associated with Neural Tube Defects (I): Full Aneuploidy

Taiwanese Journal of Obstetrics & Gynecology, 2007
Fetuses with neural tube defects (NTDs) carry a risk of chromosomal abnormalities. The risk varies with maternal age, gestational age at diagnosis, association with other structural abnormalities, and family history of chromosome aberrations.
Chih-Ping Chen
doaj   +1 more source

Application value of NIPT for uncommon fetal chromosomal abnormalities

Molecular Cytogenetics, 2020
Objective To investigate the clinical value of noninvasive prenatal testing (NIPT) for fetal chromosomal deletion, duplication, and sex chromosome abnormalities.
Lianli Yin, Yinghua Tang, Qing Lu, Aiping Pan, Mingfang Shi   +4 more
doaj   +1 more source

Polymorphism in glutathione S-transferase P1 is associated with susceptibility to chemotherapyinduced leukemia [PDF]

, 2001
Glutathione S-transferases (GSTs) detoxify potentially mutagenic and toxic DNA-reactive electrophiles, including metabolites of several chemotherapeutic agents, some of which are suspected human carcinogens.
Allan, J.M., Wild, C.P., Rollinson, S., Willett, E.V., Moorman, A.V., Dovey, G.J., Roddam, P.L., Roman, E., Cartwright, R.A., Morgan, G.J.   +9 more
core   +4 more sources

Study on the Clinical Value of Noninvasive Prenatal Testing in Screening the Chromosomal Abnormalities of the Fetus in the Elderly Pregnant Women [PDF]

, 2022
Zhiping Gu, Mengmeng Du, Tianhui Xu, Chunyan Jin   +3 more
openalex   +1 more source

dUTPase is essential in zebrafish development and possesses several single‐nucleotide variants with pronounced structural and functional consequences

FEBS Open Bio, EarlyView.
dUTPases are involved in balancing the appropriate nucleotide pools. We showed that dUTPase is essential for normal development in zebrafish. The different zebrafish genomes contain several single‐nucleotide variations (SNPs) of the dut gene. One of the dUTPase variants displayed drastically lower protein stability and catalytic efficiency as compared ...
Viktória Perey‐Simon, Angéla Békesi, Latifa Kazzazy, Jázmin Mihály, Máté Varga, Beáta G. Vértessy, Kinga Nyíri   +6 more
wiley   +1 more source

Population-Based Study of Epilepsy in Infants

Pediatric Neurology Briefs, 2013
Investigators at the Paediatric Neurology Department, Great Ormond Street Hospital for Children, London, and other centers in the UK and USA carried out a population-based study of children, 1-24 months of age, with new-onset epilepsy, ascertained over ...
J Gordon Millichap
doaj   +1 more source

Dynamic clonal progression in xenografts of acute lymphoblastic leukemia with intrachromosomal amplification of chromosome 21 [PDF]

, 2018
Intrachromosomal amplification of chromosome 21 is a heterogeneous chromosomal rearrangement occurring in 2% of childhood precursor B-cell acute lymphoblastic leukemia.
Bashton, Matthew, Blair, Helen H., Buechler, Lars, Carey, Peter, Cheng, Joanna, Clayton, Jake, Halsey, Christina, Hanna, Rebecca, Harrison, Christine J., Hawking, Zoe, Heidenreich, Olaf, Hollern, Shaun, Jones, Lisa, Marr, Helen, Moorman, Anthony V., Russell, Lisa J., Ryan, Sarra L., Schwab, Claire J., Sinclair, Paul B.   +18 more
core   +3 more sources

Single-cell DNA sequencing reveals a high incidence of chromosomal abnormalities in human blastocysts [PDF]

J Clin Invest
Effrosyni A. Chavli, Sjoerd J. Klaasen, Diane Van Opstal, Joop S.E. Laven, Geert J.P.L. Kops, Esther B. Baart   +5 more
openalex   +2 more sources

Interleukin‐6 as a Key Biomarker in Facioscapulohumeral Dystrophy: Evidence From Longitudinal Analyses

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Facioscapulohumeral muscular dystrophy type 1 (FSHD1) is a progressive neuromuscular disorder with no approved treatments. Identifying reliable biomarkers is critical to monitor disease severity, activity, and progression. Interleukin‐6 (IL‐6) has been proposed as a candidate biomarker, but longitudinal validation is limited ...
Jonathan Pini, Emanuela Martinuzzi, Sandra Dhifallah, Abderhmane Slioui, Angela Puma, Luisa Villa, Michele Cavalli, Andra Ezaru, Jérémy Garcia, Manuela Gambella, Federico Torre, Luca Jacopo Pavan, Nicolas Glaichenhaus, Sabrina Sacconi   +13 more
wiley   +1 more source