Results 171 to 180 of about 1,128,571 (299)

Therapy for Myhre Syndrome: Goals, Misconceptions, and Current Agents

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre Syndrome (MYHRS, MIM #139210) is a rare, multisystem connective tissue disorder caused by recurrent heterozygous gain‐of‐function pathogenic variants in the SMAD4 gene, a key player in TGF‐β signaling and a regulator of extracellular matrix homeostasis.
Alessandro De Falco   +2 more
wiley   +1 more source

Review of the Molecular and Developmental Basis of Myhre Syndrome, Bench Research

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MS) is a connective‐tissue disorder within the acromelic dysplasia spectrum. It is characterized by congenital craniofacial, skeletal, cutaneous anomalies, respiratory, cardiovascular along with intellectual disability, deafness, and progressive fibrosis.
Camille Viaut, Valerie Cormier‐Daire
wiley   +1 more source

Association of DPP4 with esophageal stricture progression and the Hippo‐YAP pathway

open access: yesAnimal Models and Experimental Medicine, EarlyView.
This study establishes a comprehensive translational platform for esophageal stricture (ES) research by integrating a novel rat model with clinically relevant porcine validation. This study identifies DPP4 as a gene of interest associated with ES following endoscopic submucosal dissection, demonstrating that prophylactic DPP4 inhibition attenuates ...
Rui Wu   +5 more
wiley   +1 more source

Refining a preclinical model of viral myocarditis in accordance with biotech standards

open access: yesAnimal Models and Experimental Medicine, EarlyView.
This study aimed to refine a murine model of Coxsackievirus B3‐induced myocarditis by integrating dietary and imaging innovations to improve animal welfare, data quality, and clinical applicability. The refined diet significantly reduced animal health burden, reduced weight loss, and stabilized blood glucose during development of cardiac inflammation ...
Jonas Stewen   +9 more
wiley   +1 more source

Genome‐wide network analysis identifies the lncRNA‐92467/miR‐205‐5p/PTPRM/CAMs axis in a rat model of hypoxic pulmonary hypertension

open access: yesAnimal Models and Experimental Medicine, EarlyView.
The pathogenesis of hypoxic pulmonary hypertension (HPH) remains unclear. In this study, we explored its key regulatory mechanisms using animal models, RNA sequencing, and cellular assays. We found that lncRNA‐92467 functions as a ceRNA, binding miR‐205‐5p, and thereby upregulating PTPRM, inhibiting abnormal proliferation and migration of endothelial ...
Yan‐Ying Shen   +7 more
wiley   +1 more source

Optimization of the in vitro Model of Cardiac Fibrosis. [PDF]

open access: yesBraz J Cardiovasc Surg
Neshati Z, Esmaeili Z, Arzi F.
europepmc   +1 more source

Ac‐SDKP modulates apoptosis via HSP27 and the FAS/FASL and mitochondrial axes

open access: yesAnimal Models and Experimental Medicine, EarlyView.
Schematic diagram of Ac‐SDKP regulating the FAS/FASL and mitochondrial apoptosis pathways via HSP27. Ac‐SDKP inhibits HSP27 expression, activates the FAS/FASL pathway and Caspase‐3 signaling, increases Caspase‐8 and Caspase‐3 expression, and induces cell apoptosis.
Wenxin Guo   +13 more
wiley   +1 more source

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