Pseudoxanthoma elasticum-like phenotype with cutis laxa and multiple coagulation factor deficiency represents a separate genetic entity - Wikidata - awgldk - TriplyDB

Pseudoxanthoma elasticum-like phenotype with cutis laxa and multiple coagulation factor deficiency represents a separate genetic entity

Pseudoxanthoma elasticum-like phenotype with cutis laxa and multiple coagulation factor deficiency represents a separate genetic entity

http://www.wikidata.org/entity/Q28274568

about

Autosomal recessive cutis laxa syndrome revisited Pseudoxanthoma elasticum: clinical phenotypes, molecular genetics and putative pathomechanisms Pseudoxanthoma elasticum and skin: Clinical manifestations, histopathology, pathomechanism, perspectives of treatment From variome to phenome: Pathogenesis, diagnosis and management of ectopic mineralization disorders Ectopic mineralization disorders of the extracellular matrix of connective tissue: molecular genetics and pathomechanisms of aberrant calcification Structural and functional insights into enzymes of the vitamin K cycle Detecting low frequent loss-of-function alleles in genome wide association studies with red hair color as example Pseudoxanthoma elasticum Calcification in dermal fibroblasts from a patient with GGCX syndrome accompanied by upregulation of osteogenic molecules A 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 elasticum Gla-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 elasticum ABCC6 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 ABCC6 Pseudoxanthoma 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 gene Pseudoxanthoma elasticum: molecular genetics and putative pathomechanisms Angioid 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 calcification Characterization 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 carboxylase Mineralization/anti-mineralization networks in the skin and vascular connective tissues Co-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 involvement Histopathology of pseudoxanthoma elasticum and related disorders: histological hallmarks and diagnostic clues The level of hepatic ABCC6 expression determines the severity of calcification after cardiac injury.ABCC6 as a target in pseudoxanthoma elasticum.

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P2860

Pseudoxanthoma elasticum-like phenotype with cutis laxa and multiple coagulation factor deficiency represents a separate genetic entity

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description

2007 nî lūn-bûn

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2007 թուականի Մարտին հրատարակուած գիտական յօդուած

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2007 թվականի մարտին հրատարակված գիտական հոդված

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Pseudoxanthoma elasticum-like ...... ents a separate genetic entity

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Pseudoxanthoma elasticum-like ...... ents a separate genetic entity

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Pseudoxanthoma elasticum-like ...... ents a separate genetic entity

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Dealba Gheduzzi

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Ivonne Pasquali-Ronchetti

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Ludovic Martin

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Olivier M Vanakker

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