Results 111 to 120 of about 337,814 (260)

The 9th International RASopathies Symposium

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The RASopathies are a group of congenital disorders with overlapping clinical manifestations that are caused by pathogenic germline or early somatic variants that result in the hyperactivation of the RAS/mitogen‐activated protein kinase (MAPK) signaling pathway.
Pau Castel   +41 more
wiley   +1 more source

Positive Electrochemical Potentials Induce Enhanced Chemoselectivity and Activity in the Thermocatalytic Hydrogenation of 3‐Nitrostyrene

open access: yesAngewandte Chemie, EarlyView.
Induced by positive electrochemical potentials, thermocatalytic hydrogenation (TCH) of 3‐nitrostyrene with H2 delivers one single product with six‐fold enhanced yield. The enhanced selectivity and activity originate from changes in the adsorption geometry of 3‐nitrostyrene and in the surface concentration of 3‐nitrostyrene and hydrogen via a concurrent
Yunfei Jiao   +2 more
wiley   +2 more sources

Diagnostic Odyssey of Atypical Long‐Chain 3‐Hydroxyacyl‐CoA Dehydrogenase Deficiency (LCHADD) Explained by Three Allelic Products From Two Pathogenic Variants

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency (LCHADD) is an autosomal recessive mitochondrial defect of long‐chain fatty acid β‐oxidation, caused by biallelic pathogenic variants in HADHA or HADHB. We report a 22‐year‐old male with an atypically mild presentation of LCHADD who was referred to the Undiagnosed Diseases Network (UDN ...
Yutaka Furuta   +9 more
wiley   +1 more source

The regulatory framework of trade finance: from BASEL I to BASEL III

open access: yesAnnals of Spiru Haret University Economic Series, 2011
The global crisis revealed several weaknesses in the international framework of banking regulation. Consequently, the Basel Committee on Banking Supervision (BCBS) proposed a package of measures to strengthen the resilience of the banking sector. Besides
Claudia BAICU
doaj  

Response of an Infant With Presumed Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) to Ketone Supplementation

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) is an autosomal recessive inborn error of metabolism caused by biallelic pathogenic variants in one of three known genes: ETFA, ETFB, and ETFDH. It can cause multisystem dysfunction, including cardiomyopathy in severe cases.
Yutaka Furuta   +17 more
wiley   +1 more source

Leptin May Promote Eosinophilic CRSwNP Progression by Enhancing Eosinophil Chemotaxis and Angiogenesis Under a Type 2 Inflammatory Milieu

open access: yesInternational Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Chronic rhinosinusitis with nasal polyp (CRSwNP) is a heterogeneous Type 2 inflammatory disease characterized by enhanced eosinophilic infiltration. Both innate and adaptive immunity are involved in the onset and progression of CRSwNP.
Yuki Sonoda   +4 more
wiley   +1 more source

Recent advances in the construction of humanized animal models and applications in translational medicine

open access: yesAnimal Models and Experimental Medicine, EarlyView.
Substantial advances have been achieved in the development of humanized mouse models, which have proven highly valuable in evaluating cancer immunotherapies and elucidating the mechanisms of infectious diseases. There is now a growing shift in research toward larger animal models—such as pigs—that offer greater physiological similarity to humans ...
Yanan Lyu, Yong‐Guang Yang, Zheng Hu
wiley   +1 more source

Proinflammatory Epstein–Barr Virus Antibody Functions Track with Disease Activity in Multiple Sclerosis

open access: yesAnnals of Neurology, EarlyView.
Objective Epstein–Barr virus (EBV) has been implicated in the pathogenesis of multiple sclerosis (MS). Elevated immunoglobulin G (IgG) titers against EBV nuclear antigen 1 (EBNA1) represent the most consistent serological marker of MS risk, with levels remaining persistently elevated following disease onset.
Malina Behrens   +9 more
wiley   +1 more source

Lysyl Oxidase Reduces Neutrophil Extravasation in Response to P. aeruginosa in an Infection‐on‐a‐Chip Model

open access: yesAdvanced NanoBiomed Research, EarlyView.
Lysyl oxidase crosslinking of type I collagen decreases neutrophil extravasation through an endothelium during the initial response to P. aeruginosa. This decrease in extravasation is likely due to the increase in VE‐cadherin expression between endothelial cells seeded on LOX‐crosslinked collagen hydrogels.
Christopher J. Calo   +7 more
wiley   +1 more source

Evaluation of dnDSA risk stratification using the updated PIRCHE-T2 model in two kidney transplant cohorts. [PDF]

open access: yesFront Immunol
Tian Y   +8 more
europepmc   +1 more source

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