Results 61 to 70 of about 2,873 (186)

Abcc6 deficiency causes increased infarct size and apoptosis in a mouse cardiac ischemia-reperfusion model. [PDF]

open access: yes, 2011
ABCC6 genetic deficiency underlies pseudoxanthoma elasticum (PXE) in humans, characterized by ectopic calcification, and early cardiac disease. The spectrum of PXE has been noted in Abcc6-deficient mice, including dystrophic cardiac calcification.
Yao, Yucheng   +43 more
core   +1 more source

Cyclosporine A Treatment Inhibits Abcc6-Dependent Cardiac Necrosis and Calcification following Coxsackievirus B3 Infection in Mice.

open access: yesPLoS ONE, 2015
Coxsackievirus type B3 (CVB3) is a cardiotropic enterovirus. Infection causes cardiomyocyte necrosis and myocardial inflammation. The damaged tissue that results is replaced with fibrotic or calcified tissue, which can lead to permanently altered cardiac
Jennifer Marton   +8 more
doaj   +1 more source

Atherogenic Diet Accelerates Ectopic Mineralization in a Mouse Model of Pseudoxanthoma Elasticum

open access: yesInternational Journal of Dermatology and Venerology, 2020
. Objective:. Pseudoxanthoma elasticum (PXE) is a multisystem heritable disorder caused by mutations in the Abcc6 gene. The disease is characterized by ectopic mineralization of the skin, eyes, and arterial blood vessels. Previous studies have suggested
Jing-Yi Zhao   +5 more
doaj   +1 more source

A Novel Idiopathic Atrial Calcification: Pathologic Manifestations and Potential Mechanism

open access: yesFrontiers in Cardiovascular Medicine, 2022
BackgroundCardiac calcification is a type of ectopic pathologic calcification of unknown etiology and mechanisms. Once diagnosed, the location, extent and morphology of the calcified lesions, as well as their functional significance in the heart, are ...
Bowen Li   +12 more
doaj   +1 more source

Generalized arterial calcification of infancy and pseudoxanthoma elasticum: two sides of the same coin

open access: yesFrontiers in Genetics, 2012
Generalized arterial calcification of infancy (GACI) is associated with biallelic mutations in ENPP1 in the majority of cases, whereas mutations in ABCC6 are known to cause pseudoxanthoma elasticum (PXE).
Yvonne eNitschke, Frank eRutsch
doaj   +1 more source

Abcc6 deficiency prevents rhabdomyolysis-induced acute kidney injury

open access: yesScientific Reports, 2023
Rhabdomyolysis is a risk factor for acute kidney injury, transition towards chronic kidney disease, and death. The role of calcium phosphate deposits in the mechanisms of rhabdomyolysis-induced acute kidney injury (RAKI) is still unclear.
Audrey Casemayou   +11 more
doaj   +1 more source

Copy Number Variants and Their Association With Intracerebral Hemorrhage Risk: A Case–Control Study

open access: yesAnnals of Clinical and Translational Neurology, Volume 13, Issue 3, Page 530-536, March 2026.
ABSTRACT Introduction Intracerebral Hemorrhage (ICH) is a leading cause of morbidity and mortality worldwide and lacks effective therapeutic interventions. Despite previous studies, the genetic underpinnings of ICH remain poorly understood. We sought to investigate the role of copy number variants (CNVs) in ICH pathophysiology to identify novel ...
Savvina Prapiadou   +12 more
wiley   +1 more source

Abcc6 deficiency in mice leads to altered ABC transporter gene expression in metabolic active tissues

open access: yesLipids in Health and Disease, 2019
Background ATP-binding cassette (ABC) transporters are involved in a huge range of physiological processes. Mutations in the ABCC6 gene cause pseudoxanthoma elasticum, a metabolic disease with progressive soft tissue calcification. Methods The aim of the
Bettina Ibold   +6 more
doaj   +1 more source

Implementation of Drug‐Induced Rhabdomyolysis and Acute Kidney Injury in Microphysiological System

open access: yesAdvanced Functional Materials, Volume 36, Issue 25, 26 March 2026.
A modular Muscle–Kidney proximal tubule‐on‐a‐chip integrates 3D skeletal muscle and renal proximal tubule tissues to model drug‐induced rhabdomyolysis and acute kidney injury. The coculture system enables dynamic tissue interaction, functional contraction monitoring, and quantification of nephrotoxicity, revealing drug side effect‐induced metabolic ...
Jaesang Kim   +4 more
wiley   +1 more source

ABCC6 Gene Analysis in 20 Japanese Patients with Angioid Streaks Revealing Four Frequent and Two Novel Variants and Pseudodominant Inheritance

open access: yesJournal of Ophthalmology, 2017
Purpose. To report the spectrum of ABCC6 variants in Japanese patients with angioid streaks (AS). Patients and Methods. This was a single-center cohort study.
Satoshi Katagiri   +5 more
doaj   +1 more source

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