Pseudoxanthoma elasticum-like phenotype with cutis laxa and multiple coagulation factor deficiency represents a separate genetic entity
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Autosomal recessive cutis laxa syndrome revisitedPseudoxanthoma elasticum: clinical phenotypes, molecular genetics and putative pathomechanismsPseudoxanthoma elasticum and skin: Clinical manifestations, histopathology, pathomechanism, perspectives of treatmentFrom variome to phenome: Pathogenesis, diagnosis and management of ectopic mineralization disordersEctopic mineralization disorders of the extracellular matrix of connective tissue: molecular genetics and pathomechanisms of aberrant calcificationStructural and functional insights into enzymes of the vitamin K cycleDetecting low frequent loss-of-function alleles in genome wide association studies with red hair color as examplePseudoxanthoma elasticumCalcification in dermal fibroblasts from a patient with GGCX syndrome accompanied by upregulation of osteogenic moleculesA single-nucleotide polymorphism in the Abcc6 gene associates with connective tissue mineralization in mice similar to targeted models for pseudoxanthoma elasticum.Elevated dietary magnesium prevents connective tissue mineralization in a mouse model of pseudoxanthoma elasticum (Abcc6(-/-)).Mutations in the GGCX and ABCC6 genes in a family with pseudoxanthoma elasticum-like phenotypes.Hereditary combined deficiency of the vitamin K-dependent clotting factors.Interstitial microduplication at 2p11.2 in a patient with syndromic intellectual disability: 30-year follow-up.Magnesium carbonate-containing phosphate binder prevents connective tissue mineralization in Abcc6(-/-) mice-potential for treatment of pseudoxanthoma elasticumGla-rich protein is a novel vitamin K-dependent protein present in serum that accumulates at sites of pathological calcifications.A hetero-dimer model for concerted action of vitamin K carboxylase and vitamin K reductase in vitamin K cycle.Vitamin K does not prevent soft tissue mineralization in a mouse model of pseudoxanthoma elasticum.Administration of vitamin K does not counteract the ectopic mineralization of connective tissues in Abcc6 (-/-) mice, a model for pseudoxanthoma elasticum.Efficiency of exome sequencing for the molecular diagnosis of pseudoxanthoma elasticumABCC6 does not transport vitamin K3-glutathione conjugate from the liver: relevance to pathomechanisms of pseudoxanthoma elasticum.The vitamin K-dependent carboxylase generates γ-carboxylated glutamates by using CO2 to facilitate glutamate deprotonation in a concerted mechanism that drives catalysis.Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6Pseudoxanthoma elasticum, the paradigm of heritable ectopic mineralization disorders - can diet help?Cutaneous features of pseudoxanthoma elasticum in a patient with generalized arterial calcification of infancy due to a homozygous missense mutation in the ENPP1 genePseudoxanthoma elasticum: molecular genetics and putative pathomechanismsAngioid streaks in Pseudoxanthoma Elasticum: role of the p.R1268Q mutation in the ABCC6 gene.A novel animal model for pseudoxanthoma elasticum: the KK/HlJ mouse.The molecular and physiological roles of ABCC6: more than meets the eye.Mechanisms of arterial remodeling: lessons from genetic diseases.The vascular phenotype in Pseudoxanthoma elasticum and related disorders: contribution of a genetic disease to the understanding of vascular calcificationCharacterization of vitamin K-dependent carboxylase mutations that cause bleeding and nonbleeding disorders.Vitamin K oxygenation, glutamate carboxylation, and processivity: defining the three critical facets of catalysis by the vitamin K-dependent carboxylaseMineralization/anti-mineralization networks in the skin and vascular connective tissuesCo-existent pseudoxanthoma elasticum and vitamin K-dependent coagulation factor deficiency: compound heterozygosity for mutations in the GGCX gene.Pseudoxanthoma elasticum: reduced gamma-glutamyl carboxylation of matrix gla protein in a mouse model (Abcc6-/-).Paediatric pseudoxanthoma elasticum with cardiovascular involvementHistopathology of pseudoxanthoma elasticum and related disorders: histological hallmarks and diagnostic cluesThe level of hepatic ABCC6 expression determines the severity of calcification after cardiac injury.ABCC6 as a target in pseudoxanthoma elasticum.
P2860
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P2860
Pseudoxanthoma elasticum-like phenotype with cutis laxa and multiple coagulation factor deficiency represents a separate genetic entity
description
2007 nî lūn-bûn
@nan
2007 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2007 թվականի մարտին հրատարակված գիտական հոդված
@hy
2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
name
Pseudoxanthoma elasticum-like ...... ents a separate genetic entity
@ast
Pseudoxanthoma elasticum-like ...... ents a separate genetic entity
@en
Pseudoxanthoma elasticum-like ...... ents a separate genetic entity
@nl
type
label
Pseudoxanthoma elasticum-like ...... ents a separate genetic entity
@ast
Pseudoxanthoma elasticum-like ...... ents a separate genetic entity
@en
Pseudoxanthoma elasticum-like ...... ents a separate genetic entity
@nl
prefLabel
Pseudoxanthoma elasticum-like ...... ents a separate genetic entity
@ast
Pseudoxanthoma elasticum-like ...... ents a separate genetic entity
@en
Pseudoxanthoma elasticum-like ...... ents a separate genetic entity
@nl
P2093
P50
P356
P1476
Pseudoxanthoma elasticum-like ...... ents a separate genetic entity
@en
P2093
Bart P Leroy
Dealba Gheduzzi
Dirk Matthys
Ivonne Pasquali-Ronchetti
Ludovic Martin
Olivier M Vanakker
Paul J Coucke
Veronica I Guerci
P2888
P356
10.1038/SJ.JID.5700610
P407
P577
2007-03-01T00:00:00Z
P5875
P6179
1051180666