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Minimal Kidney Disease Phenotype in Heterozygous Null Mice.
Can J Kidney Health Dis
June 2023
Department of Pathology and Molecular Medicine, Faculty of Health Sciences, McMaster University, Hamilton, Ontario, Canada.
Background: Shroom family member 3 (SHROOM3) encodes an actin-associated protein that regulates epithelial morphology during development. Several genome-wide association studies (GWAS) have identified genetic variances primarily in the 5' region of SHROOM3, associated with chronic kidney disease (CKD) and poor transplant outcomes. These genetic variants are associated with alterations in Shroom3 expression.
View Article and Find Full Text PDFShroom3, a Gene Associated with CKD, Modulates Epithelial Recovery after AKI.
Kidney360
January 2022
Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Canada.
Background: Ischemia-induced AKI resulting in tubular damage can often progress to CKD and is a common cause of nephrology consultation. After renal tubular epithelial damage, molecular and cellular mechanisms are activated to repair and regenerate the damaged epithelium. If these mechanisms are impaired, AKI can progress to CKD.
View Article and Find Full Text PDFBi-allelic Mutations in NADSYN1 Cause Multiple Organ Defects and Expand the Genotypic Spectrum of Congenital NAD Deficiency Disorders.
Am J Hum Genet
January 2020
Victor Chang Cardiac Research Institute, Darlinghurst, Sydney, NSW 2010, Australia; Faculty of Medicine, University of New South Wales, Sydney, NSW 2052, Australia; Faculty of Science, University of New South Wales, Sydney, NSW 2052, Australia. Electronic address:
Birth defects occur in up to 3% of all live births and are the leading cause of infant death. Here we present five individuals from four unrelated families, individuals who share similar phenotypes with disease-causal bi-allelic variants in NADSYN1, encoding NAD synthetase 1, the final enzyme of the nicotinamide adenine dinucleotide (NAD) de novo synthesis pathway. Defects range from the isolated absence of both kidneys to multiple malformations of the vertebrae, heart, limbs, and kidney, and no affected individual survived for more than three months postnatally.
View Article and Find Full Text PDFSapropterin Treatment Prevents Congenital Heart Defects Induced by Pregestational Diabetes Mellitus in Mice.
J Am Heart Assoc
November 2018
Background Tetrahydrobiopterin is a cofactor of endothelial NO synthase ( eNOS ), which is critical to embryonic heart development. We aimed to study the effects of sapropterin (Kuvan), an orally active synthetic form of tetrahydrobiopterin on eNOS uncoupling and congenital heart defects ( CHD s) induced by pregestational diabetes mellitus in mice. Methods and Results Adult female mice were induced to pregestational diabetes mellitus by streptozotocin and bred with normal male mice to produce offspring.
View Article and Find Full Text PDFUsing Large Datasets to Understand CKD.
J Am Soc Nephrol
May 2018
Departments of Paediatrics and Physiology and Pharmacology, University of Western Ontario, London, Ontario, Canada; and Children's Health Research Institute, London, Ontario, Canada
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