Results 151 to 160 of about 408,194 (307)

Noonan Syndrome Spectrum Disorders Predispose to Systemic Lupus Erythematosus: Case Report and Critical Review of the Literature

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT RASopathies are clinically overlapping neurodevelopmental syndromes resulting from germline mutations in genes involved in the rat sarcoma/mitogen‐activated protein kinases (RAS/MAPK) pathway. Historically, RASopathies have been described by clinical phenotypes, such as Noonan syndrome and Neurofibromatosis type I.
Anastasia‐Vasiliki Madenidou   +6 more
wiley   +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

Polydatin alleviates mitochondrial damage and apoptosis of lung epithelial cells by inhibiting toll‐like receptor 4‐dependent macrophage activation in asthma

open access: yesAnimal Models and Experimental Medicine, EarlyView.
The alleviation of asthma by polydatin is dependent on the blockage of the toll‐like receptor 4 (TLR4)/P2X7R synergy in macrophages. The blockage of the TLR4/P2X7R synergy results in decreased release and secretion of interleukin‐1β (IL‐1β) and IL‐18. In epithelial cells, low IL‐1β and IL‐18 levels inhibit mitochondrial damage and apoptosis.
Guangxing Li   +9 more
wiley   +1 more source

Chronic high‐fat diet induces multi‐organ dysfunction and metabolic homeostasis disruption in Macaca fascicularis

open access: yesAnimal Models and Experimental Medicine, EarlyView.
An 18‐month HFD successfully established a translational Macaca fascicularis model replicating key metabolic disorders (MASH, diabetes, cardiac hypertrophy). MASH was determined by liver biopsy histology, the presence steatosis, inflammatory infiltration, hepatocytic ballooning, and fibrosis were considered as MASH; diabetes was diagnosed according to ...
Hongyi Chen   +12 more
wiley   +1 more source

Excessive expression of miR-1a by statin causes skeletal injury through targeting mitogen-activated protein kinase kinase kinase 1. [PDF]

open access: yesAging (Albany NY), 2021
Fu CN   +9 more
europepmc   +1 more source

Trametinib in Adults with Neurofibromatosis Type 1‐Related Symptomatic Plexiform Neurofibromas

open access: yesAnnals of Neurology, EarlyView.
Objective Mitogen‐activated protein kinase kinase inhibitors have shown promising results in treatment of plexiform neurofibromas in neurofibromatosis type 1 patients, but data in adults are limited. The aim of this phase 2 study was to investigate the efficacy and safety of trametinib in adults with neurofibromatosis type 1.
D. Christine Noordhoek   +7 more
wiley   +1 more source

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