Results 171 to 180 of about 526,044 (282)

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

Electrocatalytic C─N Coupling in Aqueous Solutions for High‐Value Product Synthesis

open access: yesAngewandte Chemie, EarlyView.
Electrocatalytic C–N coupling offers a sustainable route to synthesize crucial organic nitrogen compounds from abundant feedstocks under mild conditions. This review examines recent progress in overcoming key challenges, like slow kinetics and competing reactions through advanced catalysts and novel mechanisms, paving the way for transforming chemical ...
Yunpeng Zuo   +3 more
wiley   +2 more sources

Peripheral lysosome levels dictate mTORC1 inactivation even when catabolically impaired. [PDF]

open access: yesCell Commun Signal
Dang HQ   +7 more
europepmc   +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

The Role of Chemistry Across Disciplines From Humanities to Life Sciences in Understanding Complexity and Emergence

open access: yesAngewandte Chemie, EarlyView.
This study explores the origins of life by linking prebiotic chemistry, the emergence of information‐carrying molecules such as RNA and proteins, and philosophical questions about consciousness. The study emphasizes the role of molecular evolution in the Central Dogma and provides insights into the chemical origins of biology and the basis of life's ...
Harald Schwalbe   +5 more
wiley   +2 more sources

The Age at Onset of LRRK2 p.Gly2019Ser Parkinson's Disease Across Ancestries and Countries of Origin

open access: yesAnnals of Neurology, EarlyView.
Objectives The objective of this study was to elucidate differences in the cumulative incidence of Leucine‐rich repeat kinase 2 (LRRK2) p.Gly2019Ser‐related Parkinson's disease (PD; LRRK2‐PD) between ancestries and countries. Methods We included 922 unrelated p.Gly2019Ser variant carriers (affected = 762 and unaffected = 160) from the Global Parkinson ...
Theresa Lüth   +14 more
wiley   +1 more source

Direct Selection of Functional De Novo Macrocycles for Activation of On‐Cellulo Insulin Receptor

open access: yesAngewandte Chemie, EarlyView.
A live‐cell screening platform, RaPID‐ExCells, integrates mRNA display‐derived macrocyclic peptide libraries with functional selection against native cell‐surface receptors. Application to the insulin receptor enabled de novo discovery of a macrocyclic agonist that activates endogenous signaling despite weak in vitro binding, highlighting the power of ...
Yun‐Hsuan Kuo   +3 more
wiley   +2 more sources

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