Results 301 to 310 of about 454,876 (378)

Compound Heterozygous Variants in ZSWIM7 Gene Linked to Infertility and Its Role in Gonadal Development

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT This study aims to elucidate the role of the ZSWIM7 gene in the etiology of infertility, focusing on its potential association with premature ovarian insufficiency and azoospermia. We investigated an 18‐year‐old female patient who presented with primary amenorrhea, hypoplasia of the uterus and ovaries, Tanner stage II breast and pubic hair ...
Denise M. Christofolini   +8 more
wiley   +1 more source

Deficiency of DEK proto‐oncogene alleviates allergic rhinitis by inhibiting RhoA/Ezrin‐mediated mitochondrial fission

open access: yesAnimal Models and Experimental Medicine, EarlyView.
Schematic diagram of the mechanism of DEK regulating RhoA activation Ezrin. Upon house dust mite (HDM) stimulation, HDM‐specific immunoglobulin E (IgE) and inflammatory factors such as interleukin 4 (IL‐4), IL‐5, IL‐13, and eosinophils increased in the nasal mucosa.
Longzhu Dai   +8 more
wiley   +1 more source

Effects of Dictyophora polysaccharide on cerebellar Purkinje cell degeneration in a chronic alcohol mouse model

open access: yesAnimal Models and Experimental Medicine, EarlyView.
In an ethanol (EtOH)‐treated mouse model, increases in the NLRP3 inflammasome proteins, PC degeneration, and motor coordination disorders were observed. DIP suppressed the NLRP3‐ASC‐caspase‐1 signaling pathway, and alleviated the motor deficits and cerebellar pathological changes in chronic EtOH‐treated mice.
Jian Zhang   +5 more
wiley   +1 more source

Green‐to‐red spectral labeling: A novel polysynaptic retrograde tracing strategy in the marker footprint mouse model

open access: yesAnimal Models and Experimental Medicine, EarlyView.
To compensate for the fluorescence loss in rabies virus–derived neuronal tracing tools caused by non‐cytolytic immune clearance (NCLIC) in retrograde tracing, we developed a novel green‐to‐red spectral labeling (GTR) strategy based on the NCLIC phenomenon and developed a novel marker footprints mouse to support the strategy.
Yige Song   +4 more
wiley   +1 more source

Multiple and Alternative Sites Make Tau Protein an Adaptable Sticky Surface for the SH3 Domain of Fyn Kinase

open access: yesAngewandte Chemie, EarlyView.
An NMR‐based study, combined with computational, calorimetric and in‐cell FRET methods, sheds light on the complex recognition mechanism between the intrinsically disordered protein Tau and the SH3 domain of Fyn kinase, highlighting how the multiple binding sites present in Tau make the protein an adaptable recognition surface that can function even ...
Roberto Tira   +8 more
wiley   +2 more sources

Establishment of a humanized SCA2 mouse model carrying a CAA disruption preventing CAG repeat expansion in pathogenic genes

open access: yesAnimal Models and Experimental Medicine, EarlyView.
In this study, we established a mouse model in which CAG repeats do not undergo microsatellite instability (MSI) across generations. A humanized ATXN2 cDNA with four CAA interruptions within 73 CAG expansions was inserted into the Rosa26 locus of C57BL/6J mice. At the same time, a 23 CAG control mouse model was also generated.
Yao Zhang   +9 more
wiley   +1 more source

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