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Results 121 to 130 of about 100,877 (263)

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen +13 more
wiley +1 more source

Chromosome-level genome assembly of trypanosomatid parasite Lotmaria passim links chromosome duplication and divergence with infection of honey bees. [PDF]

BMC Genomics
Nearman A, Butenko A, Evans JD, Palmer-Young EC. +3 more
europepmc +1 more source

Genome‐wide network analysis identifies the lncRNA‐92467/miR‐205‐5p/PTPRM/CAMs axis in a rat model of hypoxic pulmonary hypertension

Animal Models and Experimental Medicine, EarlyView.
The pathogenesis of hypoxic pulmonary hypertension (HPH) remains unclear. In this study, we explored its key regulatory mechanisms using animal models, RNA sequencing, and cellular assays. We found that lncRNA‐92467 functions as a ceRNA, binding miR‐205‐5p, and thereby upregulating PTPRM, inhibiting abnormal proliferation and migration of endothelial ...
Yan‐Ying Shen +7 more
wiley +1 more source

Genomic Structural Variations Provide Insights Into Litter Size and Teat Number Traits in Hu Sheep

Animal Research and One Health, EarlyView.
Here, we conducted whole genome sequencing on 300 Hu sheep with an average depth of 16.51X. Two candidate genes associated with litter size and teat number traits were identified, namely MAST2 and AFDN. ABSTRACT Litter size and the teat number are important economic indicators in sheep production.
Xin Xiang, Wei Dai, Jiqiang Liu, Zhengguang Wang +3 more
wiley +1 more source

Sheep Horn Development Revealed by Multi‐Tissue and Cross‐Species Transcriptomic Analysis

Animal Research and One Health, EarlyView.
Multi‐tissue and cross‐species transcriptomics with allele‐specific expression show sheep horns are a composite organ integrating epidermal and osteogenic programs. Conserved horn gene modules and cis‐regulatory variation fine‐tune expression networks underlying horn development and size (small scurs vs. large spiral horns).
Hao Li +10 more
wiley +1 more source

Higher Complement C4 Gene Copy Number Constitutes a Shared Genetic Risk Factor for Giant Cell Arteritis and IgA Vasculitis

Arthritis &Rheumatology, EarlyView.
Objective Low copy number (CN) of complement C4 isoforms and high CN of retroviral HERV‐K elements are known risk factors for many immune‐mediated inflammatory diseases (IMIDs), often showing sex‐biased effects. Here, we assessed whether CN variation within the C4 gene contributes to giant cell arteritis (GCA) and IgA vasculitis (IgAV), two complex ...
Laura Martínez‐Gutiérrez +295 more
wiley +1 more source

Immunoinformatics‐Based Design of a Multi‐Epitope Vaccine Targeting a Conserved Copper–Associated Protein in Neisseria gonorrhoeae

Biotechnology and Applied Biochemistry, EarlyView.
ABSTRACT Neisseria gonorrhoeae poses an urgent public health challenge due to rapidly increasing antimicrobial resistance and the absence of an effective vaccine. Targeting conserved bacterial pathways involved in essential physiological processes may provide new opportunities for vaccine antigen discovery.
Sinethemba H. Yakobi, Uchechukwu U. Nwodo +1 more
wiley +1 more source

Pharmacokinetic profiling of imatinib in relation to CYP3A4 activity in leukaemia patients

British Journal of Clinical Pharmacology, EarlyView.
Aim Imatinib pharmacokinetics exhibit large interindividual variability because of differences in CYP3A4 activity—the main imatinib‐metabolizing enzyme. While therapeutic drug monitoring is effective, it requires steady‐state conditions and frequent sampling.
Anna Sofie Buhl Rasmussen +14 more
wiley +1 more source

Genetic analysis of three familial cases of pure terminal 19p13.3 duplication caused by maternal balanced translocation t(19;21) (p13.3;p12). [PDF]

Front Genet
Chen JY, Cai MJ, Chen XL, Ge YS.
europepmc +1 more source

What Makes an “Ideal” Cell Line for Recombinant Adeno‐Associated Virus Production?

Biotechnology and Bioengineering, EarlyView.
Several host cell types have been used to produce rAAVs to date. Cell line‐specific traits that are beneficial in the context of rAAV manufacturing are reviewed here, with the goal of developing a consensus on the ‘ideal’ characteristics that an rAAV production host should possess (created with Biorender.com).
James Conheady +6 more
wiley +1 more source

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