Vitamin K-dependent carboxylation of matrix Gla-protein: a crucial switch to control ectopic mineralization
Vascular mineralization has recently emerged as a risk factor for cardiovascular morbidity
and mortality. Previously regarded as a passive end-stage process, vascular mineralization …
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 …
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) …
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 …
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 …
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 …
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 …
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 …
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 …
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 …
Methods: Review of the current literature. Results: Angioid streaks are crack-like …