Plasminogen Deficiency, Type I
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.
|
31064749 |
2019 |
Plasminogen Deficiency, Type I
|
0.800 |
Biomarker
|
disease |
CLINGEN |
Plasminogen replacement therapy for the treatment of children and adults with congenital plasminogen deficiency.
|
29321155 |
2018 |
Plasminogen Deficiency, Type I
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A race-specific A620T mutation in Plg, also known as Plg-Tochigi, originally identified in a patient with recurrent venous thromboembolism, causes dysplasminogenemia with reduced plasmin activity.
|
28686706 |
2017 |
Plasminogen Deficiency, Type I
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Novel plasminogen gene mutations in Turkish patients with type I plasminogen deficiency.
|
26340456 |
2016 |
Plasminogen Deficiency, Type I
|
0.800 |
Biomarker
|
disease |
BEFREE |
Molecular pathogenesis of plasminogen Hakodate: the second Japanese family case of severe type I plasminogen deficiency manifested late-onset multi-organic chronic pseudomembranous mucositis.
|
27193180 |
2016 |
Plasminogen Deficiency, Type I
|
0.800 |
Biomarker
|
disease |
BEFREE |
Plasminogen (plg) deficiency has been classified as (i) hypoplasminogenemia or 'true' type I plg deficiency, and (ii) dysplasminogenemia, also called type II plg deficiency.
|
17900274 |
2007 |
Plasminogen Deficiency, Type I
|
0.800 |
Biomarker
|
disease |
CLINGEN |
Molecular and clinical spectrum of type I plasminogen deficiency: A series of 50 patients.
|
16849641 |
2006 |
Plasminogen Deficiency, Type I
|
0.800 |
GermlineCausalMutation
|
disease |
ORPHANET |
Molecular and clinical spectrum of type I plasminogen deficiency: A series of 50 patients.
|
16849641 |
2006 |
Plasminogen Deficiency, Type I
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In this study, we measured the plasminogen activity in patients with deep vein thrombosis and analyzed the DNA sequence to detect three point mutations (Ala601Thr, Val355Phe and Asp676Asn) in patients with hypo/dysplasminogenemia.
|
12692411 |
2003 |
Plasminogen Deficiency, Type I
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Having previously identified 28 unrelated subjects with familial plasminogen deficiency from a cohort of 9611 blood donors, we have now reviewed 19 of these 28 subjects and screened the plasminogen gene in 15 subjects with hypoplasminogenaemia (plus five relatives) and four subjects with dysplasminogenaemia for mutations and polymorphisms.
|
12945885 |
2003 |
Plasminogen Deficiency, Type I
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Gene analysis revealed a homozygous missense mutation (Ala601-->Thr) at exon 15 of the plasminogen gene in the patient and a heterozygous mutation in his three daughters, suggesting that the patient has dysplasminogenaemia, which was reported as "plasminogen Tochigi."
|
12091052 |
2002 |
Plasminogen Deficiency, Type I
|
0.800 |
Biomarker
|
disease |
CLINGEN |
Pulmonary involvement in a child with ligneous conjunctivitis and homozygous type I plasminogen deficiency.
|
11477736 |
2001 |
Plasminogen Deficiency, Type I
|
0.800 |
Biomarker
|
disease |
CLINGEN |
Compound-heterozygous mutations in the plasminogen gene predispose to the development of ligneous conjunctivitis.
|
10233898 |
1999 |
Plasminogen Deficiency, Type I
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Compound-heterozygous mutations in the plasminogen gene predispose to the development of ligneous conjunctivitis.
|
10233898 |
1999 |
Plasminogen Deficiency, Type I
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Compound-heterozygous mutations in the plasminogen gene predispose to the development of ligneous conjunctivitis.
|
10233898 |
1999 |
Plasminogen Deficiency, Type I
|
0.800 |
Biomarker
|
disease |
CLINGEN |
Extrahepatic synthesis of plasminogen in the human cornea is up-regulated by interleukins-1alpha and -1beta.
|
10215610 |
1999 |
Plasminogen Deficiency, Type I
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
Plasminogen levels were severely reduced in all six patients; five patients were homozygous, and one patient was double heterozygous for type I plasminogen deficiency.
|
10066157 |
1998 |
Plasminogen Deficiency, Type I
|
0.800 |
Biomarker
|
disease |
CLINGEN |
Therapy with a purified plasminogen concentrate in an infant with ligneous conjunctivitis and homozygous plasminogen deficiency.
|
9834305 |
1998 |
Plasminogen Deficiency, Type I
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Plasminogen Kanagawa-I, a novel missense mutation, is caused by the amino acid substitution G732R.
|
9858247 |
1998 |
Plasminogen Deficiency, Type I
|
0.800 |
Biomarker
|
disease |
CLINGEN |
Ligneous conjunctivitis in plasminogen-deficient mice.
|
9473227 |
1998 |
Plasminogen Deficiency, Type I
|
0.800 |
Biomarker
|
disease |
CLINGEN |
Healing of corneal epithelial defects in plasminogen- and fibrinogen-deficient mice.
|
9501859 |
1998 |
Plasminogen Deficiency, Type I
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Homozygous mutations in the plasminogen gene of two unrelated girls with ligneous conjunctivitis.
|
9242524 |
1997 |
Plasminogen Deficiency, Type I
|
0.800 |
Biomarker
|
disease |
CLINGEN |
Homozygous mutations in the plasminogen gene of two unrelated girls with ligneous conjunctivitis.
|
9242524 |
1997 |
Plasminogen Deficiency, Type I
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
This is also true for the PLG gene of a case with dysplasminogenemia.
|
9020027 |
1997 |
Plasminogen Deficiency, Type I
|
0.800 |
Biomarker
|
disease |
CLINGEN |
Ala601-Thr type dysplasminogenaemia genetically diagnosed in patients with retinochoroidal vascular disorders.
|
9375744 |
1997 |