Results 171 to 180 of about 276,615 (314)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Autosomal recessive loss‐of‐function variants in PPP1R13L cause an ultra‐rare cardiocutaneous syndrome characterized by rapidly progressive arrhythmogenic cardiomyopathy (ACM). PPP1R13L encodes iASPP, which has two potentially overlapping mechanisms driving ACM as both a regulator of NFκB‐mediated inflammation and a binding partner within the ...
Aaron Renberg +9 more
wiley +1 more source
American 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
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Arrhythmias affect approximately half of patients with Costello syndrome (CS, OMIM # 218040), with non‐reentrant atrial tachycardia being the most common. This case describes an infant with Costello syndrome carrying the pathogenic HRAS c.34G>A (p.G12S) variant who developed early‐onset, drug‐refractory multifocal atrial tachycardia (MAT ...
Vanina Taliercio +11 more
wiley +1 more source
Therapy for Myhre Syndrome: Goals, Misconceptions, and Current Agents
American 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
Animal Models and Experimental Medicine, EarlyView.In the compression suture group, a 5‐mm‐wide tail skin was removed, and then the defect was sutured to apply compressive force to the intervertebral disc. In the sham group, only the 5‐mm‐wide tail skin was removed without a compression suture. Compression suturing triggers apoptosis, inflammatory response, and imbalance of extracellular matrix ...
Xuening Liu +4 more
wiley +1 more source
The HCMV‐encoded miR‐UL36‐3p promotes angiogenesis of endothelial cells by downregulating FOXO3
Animal Models and Experimental Medicine, EarlyView.This illustration shows the role of hcmv‐miR‐UL36‐3p in endothelial cell angiogenesis. During productive infection, endothelial cells express HCMV‐encoded miRNAs. Viral hcmv‐miR‐UL36‐3p promotes endothelial cell proliferation, migration, and capillary tube formation by directly targeting and downregulating FOXO3. The pro‐angiogenic activity of hcmv‐miR‐
Chen Wang +5 more
wiley +1 more source
Cancer therapy‐induced ototoxicity: Current challenges and emerging management strategies
Animal Models and Experimental Medicine, EarlyView.This review comprehensively examines the key risk factors for cancer therapy‐induced ototoxicity, including cumulative drug dose, genetic susceptibility, and combined treatment regimens. It highlights current challenges in ototoxicity monitoring, such as insufficient timeliness and limited clinical adoption, and advocates for standardized auditory ...
Yuqi Huang +4 more
wiley +1 more source
The Anatomical Record, EarlyView.Abstract A recent debate has emerged between Caspar et al. (2024) and Herculano‐Houzel (2023) on inferring extinct dinosaur cognition by estimating brain neuron counts. While thought‐provoking, the discussion largely overlooks the function of cognition, as well as partly neglects the difficulties involved in estimating neuron numbers, which according ...
Thomas Rejsenhus Jensen +7 more
wiley +1 more source