Results 151 to 160 of about 352,015 (307)

Breaking boundaries of hybrid photodetector: A novel approach for high-speed TCSPC with minimal distortion

open access: yesAPL Photonics
Time-Correlated Single-Photon Counting (TCSPC) enables the measurement of low-intensity optical signals with sub-picosecond timing resolution. Its performance has long been limited by pile-up distortion, which restricts acquisition rates to a small ...
P. Daniele   +4 more
doaj   +1 more source

Genome Sequencing in 19 Families With Bladder Exstrophy and Epispadias Complex Indicates Involvement of the ADGR‐Gene Family

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Bladder exstrophy and epispadias complex (BEEC) is one of the most severe congenital malformations of the urogenital tract, significantly impacting continence, sexual function, and renal function. To date, the only recurrent genetic aberration identified is the 22q.11.2 microduplication, but several candidate regions and genes including ...
Agneta Nordenskjöld   +9 more
wiley   +1 more source

Unveiling a New Link: Cholesterol Deficiency in Smith–Lemli–Opitz and Niemann–Pick C as a Driver of Ciliopathies

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The ciliopathies are a group of genetic disorders caused by defective function of either the primary cilia (a large number) or the motile cilia (a much smaller number). These have been defined as diseases with mutations in genes encoding individual ciliary or cilia‐associated proteins.
Robert P. Erickson   +1 more
wiley   +1 more source

Construction of pathogenic Sec16a mutation mouse model using CRISPR/Cas9

open access: yesAnimal Models and Experimental Medicine, EarlyView.
Yaqiang Hu et al. engineered a pathogenic Sec16a mutant mouse model using CRISPR/Cas9 technology. They observed that the Sec16a mutant mice displayed diminished learning and memory capabilities, along with a limb‐clasping phenotype upon tail suspension.
Yaqiang Hu   +6 more
wiley   +1 more source

Overexpression of mitofusin 2 ameliorates inflammation and oxidative stress in lipopolysaccharide‐induced mastitis model by regulating phosphofurin acidic cluster sorting protein 2

open access: yesAnimal Models and Experimental Medicine, EarlyView.
The interaction between mitofusin 2 (MFN2) and phosphofurin acidic cluster sorting protein 2 regulates the formation of mitochondria‐associated endoplasmic reticulum membranes (MAM). Overexpression of MFN2 can promote the formation of MAMs and inhibit inflammation and oxidative stress response in mammary epithelial cells.
Xiechen Zhou   +7 more
wiley   +1 more source

Non‐Synaptic Function and Localization of Syntaxin‐Binding Protein 1 in a Mouse Model of STXBP1‐Related Epileptic Encephalopathy

open access: yesAnnals of Neurology, EarlyView.
Objective De novo mutations in the syntaxin‐binding protein 1 (STXBP1), encoded by STXBP1, are among the most prevalent causes of variable neurodevelopmental disorders, including epileptic encephalopathy, developmental delay, and movement disorders.
Tao Yang   +7 more
wiley   +1 more source

Gonadal development in scorpion mud‐turtles, Kinosternon scorpioides, in a controlled environment

open access: yesThe Anatomical Record, EarlyView.
Stage 20 was identified as the critical point for gonadal differentiation in Kinosternon scorpioides, providing key insights into sex determination. These findings enhance conservation strategies by supporting reproductive management and population viability in both in situ and ex situ programs. Abstract Research on gonadal development including sexual
Brenda Braga   +4 more
wiley   +1 more source

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

open access: yesAnimal 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

Synthesis and assembly of mitochondrial proteins [PDF]

open access: yes, 1988
Das, Rathindra C.   +3 more
core   +1 more source

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