Dermatological and Skeletal Disorders

SCAMP - an open-source tool for the quantification of calcification in fish larvae

SCAMP quantifies calcification in fish larvae by straightening the notochord and generating standardized mineralization profiles, revealing genotype-specific differences and the effects of inorganic pyrophosphate and methylene blue.

Arterial Elastin Abundance, Rather Than Orthologue Origin, Modulates Medial Arterial Calcification in Matrix Gla Protein-Deficient Mice

The paper shows that arterial elastin abundance, not its origin, affects medial calcification in MGP-deficient mice, with reduced elastin delaying calcification and human elastin restoring it.

Phosphocitrate Is Superior to Pyrophosphate in Preventing Soft Connective Tissue Calcification in a Mouse Model of Pseudoxanthoma Elasticum

This study shows phosphocitrate is more effective than pyrophosphate in reducing calcification in PXE mice, with better oral bioavailability and fewer side effects.

Conserved transcriptional co-regulation of pyrophosphatehomeostasis genes governs systemic mineralization factorsin mice and humans

The paper identifies conserved transcription factors regulating PPi homeostasis genes in mice and humans, showing co-expression and functional links to mineralization factors.

A Multi-State Structural Genomics Approach Enables Large-Scale, Mechanistic, and Context-Specific Classification of ABCC6 Genetic Variants Implicated in Calcification Diseases

The paper classifies ABCC6 genetic variants using structural genomics to identify pathogenic mechanisms and reclassify variants of uncertain significance.

Osteochondrogenic Transdifferentiation of Vascular Smooth Muscle Cells and Microenvironmental Dynamics in Medial Arterial Calcification

This paper establishes an OTAC mouse model to study medial arterial calcification, identifying osteochondrogenic transdifferentiation of vascular smooth muscle cells and associated microenvironmental changes using scRNA-seq.

ABCC6 and ANK regulate extracellular homeostasis of pyrophosphate and citrate and affect mineral deposition in bones and soft connective tissues

This study identifies ABCC6 and ANK as regulators of extracellular pyrophosphate and citrate, showing their roles in mineral deposition and bone health, with ANK also preventing soft tissue calcification.

High-dose oral pyrophosphate inhibits connective tissue calcification in Abcc6 null mice but affects bone structure

This study shows that only very high oral doses of pyrophosphate inhibit ectopic calcification in Abcc6-/- mice, but these doses harm bone structure and are impractical for human use.

Rapamycin Reduces Arterial Mineral Density and Promotes Beneficial Vascular Remodeling in a Murine Model of Severe Medial Arterial Calcification

This study shows rapamycin reduces arterial mineral density and improves vascular structure in Mgp-/- mice with medial arterial calcification, though calcification volume remains unchanged.

The pathogenic p.(R391G) ABCC6 displays incomplete penetrance implying the necessity of an interacting partner for the development of pseudoxanthoma elasticum

The paper investigates incomplete penetrance of the p.R391G ABCC6 variant in pseudoxanthoma elasticum, suggesting the need for an interacting partner for disease development.