Why is "ABCC6" trending?

Search Interest Perspective

• ABCC6 pathogenic variants are associated with hemorrhagic phenotypes in Japanese patients with severe cerebral small vessel disease - Nature
• Identification of a Novel Pathogenic ABCC6 Mutation Through Familial Genetic Analysis in Pseudoxanthoma Elasticum: A Case Report - Cureus
• Boehringer spells out a $448M future for Rectify's ABC kidney disease program - Fierce Biotech
• Recurrent strokes and seizures in a young lady with thrombocytopenia: a new clinical face of ABCC6 mutation - Springer Nature Link
• Inozyme to run Phase III trial of INZ-701 in paediatric ABCC6 deficiency - Clinical Trials Arena
• Mutation spectrum in the ABCC6 gene and genotype–phenotype correlations in a French cohort with pseudoxanthoma elasticum - Nature
• Extracellular ATP Regulates CD73 and ABCC6 Expression in HepG2 Cells - Frontiers
• FDA Grants Fast Track Designation to Inozyme Pharma’s INZ-701, a Treatment for Patients with ABCC6 Deficiency - Pharmaceutical Executive
• New insights into the pathogenesis of pseudoxanthoma elasticum and related soft tissue calcification disorders by identifying genetic interactions and modifiers - Frontiers
• A novel ABCC6 variant causative of pseudoxanthoma elasticum - Nature
• Genetic deletion of Abcc6 disturbs cholesterol homeostasis in mice - Nature
• Persistence of the ABCC6 genes and the emergence of the bony skeleton in vertebrates - Nature
• Reassessment of causality of ABCC6 missense variants associated with pseudoxanthoma elasticum based on Sherloc - Nature
• Retinal findings in a patient with mutations in ABCC6 and ABCA4 - Nature
• Novel mutation in ABCC6 gene in a Japanese pedigree with pseudoxanthoma elasticum and retinitis pigmentosa - Nature
• Anticalcification effects of DS-1211 in pseudoxanthoma elasticum mouse models and the role of tissue-nonspecific alkaline phosphatase in ABCC6-deficient ectopic calcification - Nature
• Abcc6 deficiency prevents rhabdomyolysis-induced acute kidney injury - Nature
• Pseudoxanthoma elasticum: Wide phenotypic variation in homozygotes and no signs in heterozygotes for the c.3775delT mutation in ABCC6 - Nature
• MRP6 (ABCC6) Detection in Normal Human Tissues and Tumors - Laboratory Investigation - Nature
• Evidence of Cardiovascular Calcification and Fibrosis in Pseudoxanthoma Elasticum Mouse Models Subjected to DOCA-Salt Hypertension - Nature
• An update on the ocular phenotype in patients with pseudoxanthoma elasticum - Frontiers
• ABCC6/MRP6 mutations: further insight into the molecular pathology of pseudoxanthoma elasticum - Nature
• Angioid streaks with severe macular dysfunction and generalised retinal involvement due to a homozygous duplication in the ABCC6 gene - Nature
• Generalized arterial calcification of infancy and pseudoxanthoma elasticum: two sides of the same coin - Frontiers
• The Abcc6a Knockout Zebrafish Model as a Novel Tool for Drug Screening for Pseudoxanthoma Elasticum - Frontiers
• Mutations in ABCC6 cause pseudoxanthoma elasticum - Nature
• OBGYN - obgyn.onlinelibrary.wiley.com
• Genetic modulation of nephrocalcinosis in mouse models of ectopic mineralization: the Abcc6 - Nature
• Inside Lab Invest - Nature
• Case Report: A Novel Genetic Mutation Causes Idiopathic Infantile Arterial Calcification in Preterm Infants - Frontiers
• Case report: A rare homozygous variation in the ENPP1 gene, presenting with generalized arterial calcification of infancy in a Chinese infant - Frontiers
• Pseudoxanthoma Elasticum With Comedones in a 12-Year-Old Female Patient: A Case Report - Cureus
• Inozyme Pharma Announces Positive Interim Data for INZ-701 - GlobeNewswire
• Strange Image Shows Man, 27 With Rare, Mysterious ‘Elastic’ Skin Syndrome - Newsweek
• Inozyme Pharma to Host Virtual Investor and Analyst Event on Feb. 16, 2023 - GlobeNewswire
• Etidronate prevents dystrophic cardiac calcification by inhibiting macrophage aggregation - Nature