Intron - Open Access .click

Results 111 to 120 of about 245,400 (261)

Characterization and Analysis of PHEX Variants in Patients With Hypophosphatemia in Argentina

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Confirming the underlying molecular etiology of hereditary hypophosphatemia (HH) to provide recurrence risk counseling is highly important. Our aims were to describe the detected variants and their distribution across Argentina and to contrast them with published data.
Silvia Ávila +3 more
wiley +1 more source

Establishing Sensory Neurons as Therapeutic Targets in Peripheral Neuropathy Driven by Polyglutamine Expanded Murine ATXN3

Annals of Neurology, EarlyView.
Repeat expansion disorders frequently involve peripheral neuropathy, yet mechanisms remain unclear. Using a spinocerebellar ataxia type 3 (SCA3) Knock‐In Atxn3Q300/Q6, we identify progressive sensorimotor deficits, peripheral nerve pathology, and dorsal root ganglia RNA splicing dysregulation.
Juan P. Mato +7 more
wiley +1 more source

Development of EPIC-PCR Markers for Lutjanus purpureus (Lutjanidae-Perciformes) and their Potential Applicability in Population Analyses

Anais da Academia Brasileira de Ciências
In the present study, a novel set of eight EPIC primers were developed for Lutjanus purpureus and assayed in five other marine teleosts including three lutjanids, one scianid and one anablepid.
RAIMUNDO DA SILVA +5 more
doaj +1 more source

Evolutionäre, funktionelle und mechanistische Charakterisierung mikrobieller Terpensynthase‐ähnlicher Gene aus Springschwänzen

Angewandte Chemie, EarlyView.
Eine Genomanalyse zeigte das Vorkommen zahlreicher Terpensynthasen des bakteriellen Typs in Springschwänzen. Vier Enzyme aus Sinella curviseta wurden funktionell charakterisiert, was zur Isolierung mehrerer Verbindungen führte, darunter Sinellenether, der erste identifizierte Diterpenether einer Terpensynthase mit einem neuartigen Grundgerüst.
Min Wang +5 more
wiley +1 more source

Evolutionary, Functional and Mechanistic Characterisation of Microbial Terpene Synthase‐Like Genes From Springtails

Angewandte Chemie International Edition, EarlyView.
A genome analysis revealed the presence of many bacterial‐type terpene synthases in springtails. Four enzymes from Sinella curviseta were functionally characterised, resulting in the isolation of several compounds including sinellene ether, the first diterpene ether identified from a terpene synthase that represents a novel skeleton.
Min Wang +5 more
wiley +1 more source

The Role of miRNAs in Chicken Immune Regulation and Prospects for Disease‐Resistant Breeding

Animal Research and One Health, EarlyView.
A schematic workflow illustrating the screening of disease‐resistant miRNAs and the generation of miRNA‐based disease‐resistant chickens via PGC‐mediated germline genome editing. ABSTRACT MicroRNAs (miRNAs) are emerging as pivotal regulators of the immune system, playing a decisive role in shaping disease resistance in chicken.
Qiangzhou Wang +10 more
wiley +1 more source

Cross‐Species Single‐Cell Comparative Analysis Reveals Gluconeogenic Features of Hepatocytes in Ruminants

Animal Research and One Health, EarlyView.
In this study, we used cross‐species comparisons to identify ruminant hepatocyte features. We also identified potential genes and TFs involved in coordinating gluconeogenesis in ruminant hepatocytes. By integrating single‐cell data with population genetic analyses, we further identified candidate genetic variation in glucose metabolism and ...
Yaqi Zhou +6 more
wiley +1 more source

Tissue Damage in Rheumatoid Arthritis Is Genetically Linked to Low Peptidylglycine Alpha‐Amidating Monooxygenase Activity in Synovial Fibroblasts

Arthritis &Rheumatology, EarlyView.
Objective Both susceptibility to, and severity of, rheumatoid arthritis (RA) is associated with the rs26232 C allele. Our primary aim was to identify the biologic mechanism underlying this association. Methods Expression of surrounding genes was compared among rs26232 genotypes.
Kevin J. Sheridan +12 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

From Interferon Signature to the Clinical Landscape: Type I Interferonopathies

Arthritis &Rheumatology, EarlyView.
Objective TypeI interferonopathies are heterogeneous diseases driven by dysregulated type I interferon (IFN‐I) signaling. Diagnosis is challenging due to clinical/molecular variability and the need for IFN‐I quantification. The aim of this study was to characterize the clinical, immunologic, genetic, molecular profiles of patients with suspected ...
Ismail Yaz +13 more
wiley +1 more source

splicing
transcription
evolution

mitochondrial genome
exon
promoter

gene regulation