Clinical Pharmacogenetics Implementation Consortium Guidelines for CYP2C9 and VKORC1 Genotypes and Warfarin Dosing

JA Johnson, L Gong, M Whirl‐Carrillo… - Clinical …, 2011 - Wiley Online Library
Warfarin is a widely used anticoagulant with a narrow therapeutic index and large
interpatient variability in the dose required to achieve target anticoagulation. Common …

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 …

Guideline for the diagnosis and management of the rare coagulation disorders.

AD Mumford, S Ackroyd, R Alikhan… - British journal of …, 2014 - search.ebscohost.com
The article discusses the guidelines of the United Kingdom Haemophilia Centre Doctors'
Organization (UKHCDO) related to the diagnosis and management of patients with rare …

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) …

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 …

[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 …

Matrix Gla-protein: the calcification inhibitor in need of vitamin K

LJ Schurgers, ECM Cranenburg… - Thrombosis and …, 2008 - thieme-connect.com
Among the proteins involved in vascular calcium metabolism, the vitamin K-dependent
matrix Gla-protein (MGP) plays a dominant role. Although on a molecular level its …

Mechanisms of arterial remodeling: lessons from genetic diseases

BJ van Varik, RJMW Rennenberg… - Frontiers in …, 2012 - frontiersin.org
Vascular disease is still the leading cause of morbidity and mortality in the Western world,
and the primary cause of myocardial infarction, stroke, and ischemia. The biology of vascular …

Cutis laxa: a review

DR Berk, DD Bentley, SJ Bayliss, A Lind… - Journal of the American …, 2012 - Elsevier
Cutis laxa is a rare disorder of elastic tissue resulting in loose, redundant, hypoelastic skin.
Both acquired and inherited forms exist, some of which have significant systemic …

[HTML][HTML] Structural and functional insights into enzymes of the vitamin K cycle

JK Tie, DW Stafford - Journal of Thrombosis and Haemostasis, 2016 - Elsevier
Vitamin K‐dependent proteins require carboxylation of certain glutamates for their biological
functions. The enzymes involved in the vitamin K‐dependent carboxylation include: gamma …