Phenotypic Expansion of Knobloch Syndrome Type 2 in an Individual With a De Novo PAK2 Variant.

P21-activated kinase 2 (PAK2) is a serine/threonine kinase essential for a variety of cellular processes including signal transduction, cellular survival, proliferation, and migration. A recent report proposed monoallelic PAK2 variants cause Knobloch syndrome type 2 (KNO2)-a developmental disorder primarily characterized by ocular anomalies. Here, we identified a novel de novo heterozygous missense variant in PAK2, NM_002577.

The inhibition of anammox system under Cu stress and mechanisms of biochar-mediated recovery.

Copper (Cu)-containing wastewater has proven difficult to effectively treat using the anammox process. In this study, the nitrogen removal efficiency (NRE), sludge characteristics, microbial community and recovery mechanisms of biochar-mediated anammox under Cu stress were elucidated. At a Custress of 5 mg/L, a 73.

Structural and Kinetic Characterization of an Acetoacetyl-Coenzyme A: Acetate Coenzyme A Transferase from the Extreme Thermophile Thermosipho melanesiensis.

CtfAB from the extremely thermophilic bacterium, Thermosipho melanesiensis, has been used for in vivo acetone production up to 70°C. This enzyme has tentatively been identified as the rate-limiting step, due to its relatively low binding affinity for acetate. However, existing kinetic and mechanistic studies on this enzyme are insufficient to evaluate this hypothesis.

Living Donor Liver Transplantation for Young Biliary Atresia Recipients Is Associated With Improved Outcomes in the Modern Era.

Introduction: Biliary atresia (BA) is the most common indication for liver transplantation (LT) in children. We aimed to identify risk factors associated with survival in young patients with BA in the modern era.

Methods: We performed a retrospective analysis of BA patients aged < 2 years who received their first isolated LT with available data from the United Network for Organ Sharing database (01/2013-12/2022).