Results 161 to 170 of about 7,749,428 (298)

Periostin‐CCL3 Feedforward Signaling Loop Promotes Cardiac Fibrosis and Cardiomyocyte Necroptosis in Arrhythmogenic Cardiomyopathy

open access: yesAdvanced Science, EarlyView.
POSTN‐CCL3 signaling forms a feed‐forward circuit between cardiomyocytes and cardiac myofibroblasts in arrhythmogenic cardiomyopathy. POSTN activates JNK/RIP3‐dependent necroptotic signaling and JNK/ETS2‐induced CCL3 expression in cardiomyocytes. In turn, CCL3‐CCR5 signaling in cardiac myofibroblasts activates NF‐κB/p65 and promotes POSTN expression ...
Tiantian Wu   +12 more
wiley   +1 more source

Proteogenomic Profiling of Idiopathic Pulmonary Arterial Hypertension Identifies Sex‐Differential Proteins and Candidate Therapeutic Targets

open access: yesAdvanced Science, EarlyView.
An integrated proteogenomic analysis of 44,137 predominantly European‐ancestry UK Biobank participants aged 40–69 years identifies 12 robust proteins associated with idiopathic pulmonary arterial hypertension. These proteins define a high‐mortality molecular endotype, support early detection and mortality prediction, reveal sex‐differential proteomic ...
Xinjie Lin   +18 more
wiley   +1 more source

Nuclear Translocation of PFKFB3 Promotes Disuse‐Induced Muscle Atrophy via Scaffolding Nedd4‐Mediated JunB Ubiquitination

open access: yesAdvanced Science, EarlyView.
Disuse‐induced muscle atrophy is driven by a non‐metabolic, nuclear function of the enzyme PFKFB3. Acting as a scaffold, PFKFB3 facilitates Nedd4‐mediated ubiquitination and degradation of the anti‐atrophy transcription factor JunB. Inhibiting this novel PFKFB3–Nedd4–JunB signaling axis stabilizes JunB and alleviates muscle wasting, revealing a highly ...
Mengjun Ma   +12 more
wiley   +1 more source

Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland   +4 more
wiley   +1 more source

A Case of Multiple Mitochondrial Dysfunctions Syndrome 1 and Review of the Literature

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Multiple mitochondrial dysfunctions syndrome 1 (MMDS1, MIM #605711) due to NFU1 gene defects is an ultra‐rare autosomal recessive inborn error of metabolism associated with reduced function of NFU1 iron–sulfur cluster (ISC) scaffold protein.
Charles R. DiFalco   +6 more
wiley   +1 more source

Home - About - Disclaimer - Privacy