Vitamin K-dependent carboxylation of matrix Gla-protein: a crucial switch to control ectopic mineralization

LJ Schurgers, J Uitto, CP Reutelingsperger - Trends in molecular medicine, 2013 - cell.com
Vascular mineralization has recently emerged as a risk factor for cardiovascular morbidity
and mortality. Previously regarded as a passive end-stage process, vascular mineralization …

Pseudoxanthoma elasticum

DP Germain - Orphanet journal of rare diseases, 2017 - Springer
Pseudoxanthoma elasticum (PXE) is a genetic metabolic disease with autosomal recessive
inheritance caused by mutations in the ABCC6 gene. The lack of functional ABCC6 protein …

RAS Mutations Are Associated With the Development of Cutaneous Squamous Cell Tumors in Patients Treated With RAF Inhibitors

PA Oberholzer, D Kee, P Dziunycz, A Sucker… - Journal of clinical …, 2012 - ascopubs.org
Purpose RAF inhibitors are effective against melanomas with BRAF V600E mutations but
may induce keratoacanthomas (KAs) and cutaneous squamous cell carcinomas (cSCCs) …

[HTML][HTML] Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6

Y Nitschke, G Baujat, U Botschen, T Wittkampf… - The American Journal of …, 2012 - cell.com
Spontaneous pathologic arterial calcifications in childhood can occur in generalized arterial
calcification of infancy (GACI) or in pseudoxanthoma elasticum (PXE). GACI is associated …

Genetics in arterial calcification: pieces of a puzzle and cogs in a wheel

F Rutsch, Y Nitschke, R Terkeltaub - Circulation research, 2011 - Am Heart Assoc
Artery calcification reflects an admixture of factors such as ectopic osteochondral
differentiation with primary host pathological conditions. We review how genetic factors, as …

[HTML][HTML] Current advances on ABC drug transporters in fish

T Luckenbach, S Fischer, A Sturm - … and Physiology Part C: Toxicology & …, 2014 - Elsevier
Most members of the large ATP-binding cassette (ABC) gene family are transporters
involved in substrate translocation across biological membranes. In eukaryotes, ABC …

Proposal for updating the pseudoxanthoma elasticum classification system and a review of the clinical findings

AS Plomp, J Toonstra, AAB Bergen… - American journal of …, 2010 - Wiley Online Library
Pseudoxanthoma elasticum (PXE) is a systemic disorder affecting elastic tissues most
markedly in skin, retina, and blood vessels. It is caused by mutations in the ABCC6 gene …

Pseudoxanthoma elasticum and skin: Clinical manifestations, histopathology, pathomechanism, perspectives of treatment

B Marconi, I Bobyr, A Campanati, E Molinelli… - Intractable & rare …, 2015 - jstage.jst.go.jp
Pseudoxantoma elasticum (PXE), also known as Groenblad-Strandberg syndrome, is a rare
heritable disease with an estimated prevalence of 1: 50,000 in the general population. PXE …

Pseudoxanthoma elasticum: clinical phenotypes, molecular genetics and putative pathomechanisms

Q Li, Q Jiang, E Pfendner, A Váradi… - Experimental …, 2009 - Wiley Online Library
Pseudoxanthoma elasticum (PXE), a prototype of heritable multisystem disorders, is
characterised by pathologic mineralisation of connective tissues, with primary clinical …

Angioid streaks: a comprehensive review from pathophysiology to treatment

I Chatziralli, G Saitakis, E Dimitriou, A Chatzirallis… - Retina, 2019 - journals.lww.com
Purpose: To stratify the literature on angioid streaks, from pathophysiology to treatment.
Methods: Review of the current literature. Results: Angioid streaks are crack-like …