Uniparental disomy causes deficiencies of vitamin K-dependent proteins

scientific article published on 28 September 2016

Uniparental disomy causes deficiencies of vitamin K-dependent proteins is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1111/JTH.13517
P698PubMed publication ID27681307

P50authorJuan Luis GarcíaQ58254697
Jesus Maria Hernandez RivasQ71045084
José Padilla RuizQ83206876
Jesus M HernándezQ87263492
María Eugenia de la Morena BarrioQ43087415
Javier CorralQ51190477
P2093author name stringV Vicente
S Izquierdo
B Argilés
M A Dasi
N Garcia-Barberá
R Gonzalez-Conejero
P2860cites workIdentification of two novel transmembrane gamma-carboxyglutamic acid proteins expressed broadly in fetal and adult tissuesQ24290813
Vitamin K-dependent Gas6 activates ERK kinase and stimulates growth of cardiac fibroblastsQ24295256
Structural and functional insights into enzymes of the vitamin K cycleQ28086880
VKORC1L1, an enzyme rescuing the vitamin K 2,3-epoxide reductase activity in some extrahepatic tissues during anticoagulation therapyQ28114887
Mutations in VKORC1 cause warfarin resistance and multiple coagulation factor deficiency type 2Q28242581
The vitamin K cycleQ28274345
Hereditary combined deficiency of the vitamin K-dependent clotting factorsQ34035983
Novel associations of VKORC1 variants with higher acenocoumarol requirementsQ34731671
Human Splicing Finder: an online bioinformatics tool to predict splicing signalsQ34973311
A fascination with chromosome rescue in uniparental disomy: Mendelian recessive outlaws and imprinting copyrights infringementsQ36488731
Tissue factor pathway inhibitor: then and now.Q38265878
Exon 2 deletion splice variant of gamma-glutamyl carboxylase causes des-gamma-carboxy prothrombin production in hepatocellular carcinoma cell linesQ41129811
Increased bone formation in osteocalcin-deficient mice.Q41182577
RNA splicing. The human splicing code reveals new insights into the genetic determinants of diseaseQ42558500
Retinitis pigmentosa, cutis laxa, and pseudoxanthoma elasticum-like skin manifestations associated with GGCX mutations.Q49075014
Bleeding and non-bleeding phenotypes in patients with GGCX gene mutations.Q50354481
P433issue12
P921main subjectvitamin KQ182338
vitamin B12 deficiencyQ3234995
P304page(s)2410-2418
P577publication date2016-09-28
P1433published inJournal of Thrombosis and HaemostasisQ6296004
P1476titleUniparental disomy causes deficiencies of vitamin K-dependent proteins
P478volume14

Reverse relations

cites work (P2860)
Q90146992Exon 2 skipping eliminates γ-glutamyl carboxylase activity, indicating a partial splicing defect in a patient with vitamin K clotting factor deficiency
Q39104527GGCX-Associated Phenotypes: An Overview in Search of Genotype-Phenotype Correlations

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