Results 161 to 170 of about 607,556 (305)

Lysine Oxidation by LOXL2 in Single Strands Versus Triple Helices: Implications for Collagen‐Related Diseases

open access: yesAngewandte Chemie, EarlyView.
The oxidation of Lys residues in proline‐rich single‐stranded collagen by LOXL2, a key enzyme for tissue maturation and linked to diseases, was revealed. Oxidation occurs at rates comparable to or higher than those of Lys in unstructured telopeptides, the well‐known native sites of Lysyl oxidase (LOX) activity.
Laura M. Poller   +2 more
wiley   +2 more sources

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

David-V Procedure Combined with Zone 2 Arch Replacement for Acute Stanford Type A Dissection. [PDF]

open access: yesMethodist Debakey Cardiovasc J
Gecse I   +5 more
europepmc   +1 more source

A Novel Splice Variant in ERGIC1 Causes Arthrogryposis Multiplex Congenita—Characterization Using Urine‐Derived Cells

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr   +7 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

Personalized external aortic root support: Implantation techniqueCentral Message

open access: yesJTCVS Techniques
Luca Conci, MD   +9 more
doaj   +1 more source

Silk Fibroin for Cardiovascular Medical Devices: Review of Material Properties, Applications, and Clinical Potential

open access: yesAdvanced NanoBiomed Research, EarlyView.
Silk fibroin is an attractive natural biomaterial that can be engineered into diverse cardiovascular constructs, including vascular grafts, cardiac patches, heart valves, and stent coatings. Its tunable biological and mechanical properties have driven substantial preclinical progress; however, widespread clinical translation in cardiovascular ...
Mahsa Haghighattalab   +8 more
wiley   +1 more source

Simple Renal Cysts and Aortic Aneurysms: From Imaging Markers to Prognostic Indicators of Postoperative Outcomes. [PDF]

open access: yesAnn Vasc Dis
Nishibe T   +7 more
europepmc   +1 more source

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