Zebrafish represent a powerful model system with which to study human biology and pathology. Recently developed CRISPR/Cas9 technology enables genetic manipulation with precision. Using CRISPR/Cas9 methodology, van Gils et al. generated knockout zebrafish for abcc6a, the orthologue of human ABCC6 that is mutated in pseudoxanthoma elasticum. Although similarities exist between this and other abcc6a zebrafish models, none fully recapitulate phenotypes of human pseudoxanthoma elasticum.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/j.jid.2018.07.007 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Base of Skull & Spinal Canal Narrowing in an Adolescent with Autosomal Recessive Hypophosphatemic Rickets Type 2.
Calcif Tissue Int
January 2025
Department of Paediatric Endocrinology, Alder Hey Children's Hospital, Liverpool, UK.
Autosomal recessive hypophosphatemic rickets type 2 (ARHR2) is an uncommon hereditary form of rickets characterised by chronic renal phosphate loss and impaired bone mineralisation. This results from compound heterozygous or homozygous pathogenic variants in ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1), a key producer of extracellular inorganic pyrophosphate (PPi) and an inhibitor of fibroblast growth factor23 (FGF23). ENPP1 deficiency impacts FGF23 and increases its activity.
View Article and Find Full Text PDFAtypical angioid streaks in a patient with a monoallelic mutation.
Ophthalmic Genet
December 2024
Department of Ophthalmology, Bascom Palmer Eye Institute, Miami, Florida, USA.
Background: Pseudoxanthoma elasticum (PXE) is characterized by aberrant calcification of elastic tissues throughout the body causing varying degrees of skin, cardiac, and ocular disease. Although PXE is classically regarded as an autosomal recessive disease, recent reports have demonstrated a haploinsufficiency phenotype, in which carriers of monoallelic ATP-binding cassette transporter () gene mutations demonstrate mild manifestations of PXE. In this case report, we describe a patient with a monoallelic mutation and atypical angioid streaks.
View Article and Find Full Text PDFLiquid Polycaprolactone (PCL) for Reversing PXE's Skin Laxity of Inner Thighs and Knees: A Case Report.
J Cosmet Dermatol
December 2024
Department of Biology and Nanomedicine, National and Kapodistrian University of Athens, Athens, Greece.
Background/aim: Pseudoxanthoma elasticum (PXE) is a genetic connective tissue disorder that affects the skin with limited treatment options. A recent technology employing particle-free polycaprolactone (PCL) has shown promising results in treating inner thighs and kness of a 27-year-old female patient. This article provides a case report along with our detailed treatment protocol based on the efficacy of PCL in reversing skin laxity that can be easily incorporated into the therapeutic approaches for patients with PXE.
View Article and Find Full Text PDFPseudoxanthoma elasticum-like papillary dermal elastolysis; A report of two cases and a literature review.
Dermatol Online J
October 2024
Division of Dermatology, Department of Medicine, School of Medicine, The University of Jordan, Amman, Jordan.
Pseudoxanthoma elasticum-like papillary dermal elastolysis is a rare, benign, acquired, gradually-developing chronic elastic tissue disorder that almost exclusively affects post-menopausal women. It is essential to recognize this disease as it mimics the inherited pseudoxanthoma clinically. The pathophysiology behind this disease is multifactorial; it includes intrinsic skin aging, ultraviolet radiation exposure, and genetic components.
View Article and Find Full Text PDFFibroelastolytic papulosis: two cases of disease spectrum variants.
Dermatol Online J
August 2024
Department of Dermatology, Donald and Barbara Zucker School of Medicine at Hofstra/Northwell, New Hyde Park, New York, New York, USA.
Fibroelastolytic papulosis (FEP) is an acquired cutaneous disorder of elastin that encompasses both white fibrous papulosis of the neck (WFPN) and pseudoxanthoma elasticum (PXE)-like papillary dermal elastolysis (PDE). Although FEP is a benign acquired disorder, it shares overlapping clinical features with pseudoxanthoma elasticum (PXE), a genetic disorder with systemic manifestations. We report two cases of FEP, including the WFPN and PXE-like PDE variants, in elderly women.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!