Results 51 to 60 of about 38,525 (259)

Intermittent Fasting Restores Cardiac Lipid Homeostasis in Diabetic Cardiomyopathy in Association With Akkermansia Muciniphila and 1‐methyl‐L‐histidine

open access: yesAdvanced Science, EarlyView.
Intermittent fasting reshapes the gut microbiota in diabetic cardiomyopathy, restoring Akkermansia muciniphila and the microbiota‐associated metabolite 1‐methyl‐L‐histidine. This shift is linked to improved cardiac lipid homeostasis, reduced lipid peroxidation, and attenuated myocardial injury, highlighting a gut microbiota–metabolite–lipid axis in ...
Kaiyuan Jiang   +7 more
wiley   +1 more source

Reversible cardiomyopathies

open access: yesJournal of the Indian Academy of Echocardiography & Cardiovascular Imaging, 2018
Cardiac muscle dysfunction resulting in heart failure can be reversed with appropriate diagnosis and therapy in nearly 25%8211;50% of all nonischemic cardiomyopathies.
Anjaneyulu V Anne
doaj   +1 more source

A Novel Pak1 Activator Ameliorates ER Stress for HFpEF Therapy

open access: yesAdvanced Science, EarlyView.
Chronic metabolic stress is a major contributor to HFpEF progression. Under prolonged metabolic stress, Pak1 activity becomes impaired, contributing to disrupted ER proteostasis, cardiomyocyte apoptosis, fibrosis, and diastolic dysfunction. Mechanistically, Pak1 overexpression activates the ERK1/2–MNK1–eIF4E signaling axis, promotes translational ...
Honglin Xu   +17 more
wiley   +1 more source

Cardiovascular Toxicity Associated With Bispecific Antibodies in Hematological Malignancies: A Comprehensive Pharmacovigilance Analysis

open access: yesAmerican Journal of Hematology, EarlyView.
ABSTRACT Cardiovascular adverse events (CVAEs) associated with bispecific T‐cell engaging antibodies (BsAbs) have not been systematically investigated across approved agents. In this disproportionality analysis of FAERS (December 2014–September 2025), reports listing BsAbs as the primary suspected drug (n = 7647) were compared with all other drugs in ...
Malak Munir   +9 more
wiley   +1 more source

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo   +3 more
wiley   +1 more source

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young   +6 more
wiley   +1 more source

Inherited Cardiomyopathies: Genetics and Clinical Genetic Testing

open access: yesCardiovascular Innovations and Applications, 2017
Inherited cardiomyopathies are major causes of morbidity and mortality and include a group of cardiac disorders such as hypertrophic cardiomyopathy (HCM), dilated cardiomyopathy, arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C), left ...
Guoliang Wang   +4 more
doaj   +1 more source

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

Unraveling the genetic tapestry of pediatric sarcomeric cardiomyopathies and masquerading phenocopies in Jordan

open access: yesScientific Reports
Pediatric cardiomyopathies are mostly attributed to variants in sarcomere-related genes. Unfortunately, the genetic architecture of pediatric cardiomyopathies has never been previously studied in Jordan.
Bilal Azab   +11 more
doaj   +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

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