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Absence of Linkage Between Type III Protein S Deficiency and the PROS1 and C4BP Genes in Families Carrying the Protein S Heerlen Allele

Data up to Jan 2025

Published1997
Citations27
References54

Total Citations Per Year

Abstract

References (54)

A simple salting out procedure for extracting DNA from human nucleated cells

1988 • 20,341 citations

Faster sequential genetic linkage computations.

1993 • 1,378 citations

Familial protein S deficiency is associated with recurrent thrombosis.

1984 • 614 citations

Plasma protein S deficiency in familial thrombotic disease

1984 • 516 citations

Regulation of activated protein C by protein S. The role of phospholipid in factor Va inactivation.

1981 • 397 citations

High molecular weight complex in human plasma between vitamin K-dependent protein S and complement component C4b-binding protein.

1981 • 373 citations

Protein S and C4b-Binding Protein: Components Involved in the Regulation of the Protein C Anticoagulant System

1991 • 357 citations

Inhibition of protein Ca cofactor function of human and bovine protein S by C4b-binding protein.

1986 • 296 citations

Binding of protein S to factor Va associated with inhibition of prothrombinase that is independent of activated protein C.

1993 • 220 citations

Evaluation of the relationship between protein S and C4b-binding protein isoforms in hereditary protein S deficiency demonstrating type I and type III deficiencies to be phenotypic variants of the same genetic disease

1995 • 168 citations

Protein S binds to and inhibits factor Xa.

1994 • 167 citations

Novel subunit in C4b-binding protein required for protein S binding.

1988 • 151 citations

Organization of the human protein S genes

1990 • 143 citations

Incidence and clinical characteristics of hereditary disorders associated with venous thrombosis

1991 • 127 citations

Reevaluation of total, free, and bound protein S and C4b-binding protein levels in plasma anticoagulated with citrate or hirudin

1992 • 126 citations

Inactivation of factor VIII by activated protein C and protein S

1987 • 121 citations

Heerlen polymorphism of protein S, an immunologic polymorphism due to dimorphism of residue 460

1990 • 101 citations

Cloning and characterization of human liver cDNA encoding a protein S precursor.

1987 • 97 citations

Identification of 15 different candidate causal point mutations and three polymorphisms in 19 patients with protein S deficiency using a scanning method for the analysis of the protein S active gene

1995 • 94 citations

Inhibition of the intrinsic factor X activating complex by protein S: evidence for a specific binding of protein S to factor VIII

1995 • 85 citations

Intron-exon organization of the active human protein S gene PS.alpha. and its pseudogene PS.beta.: Duplication and silencing during primate evolution

1990 • 85 citations

Three novel mutations in five unrelated subjects with hereditary protein S deficiency type I.

1994 • 72 citations

The Ser 460 to Pro substitution of the protein S alpha (PROS1) gene is a frequent mutation associated with free protein S (type IIa) deficiency

1995 • 69 citations

High affinity interaction between C4b-binding protein and vitamin K-dependent protein S in the presence of calcium. Suggestion of a third component in blood regulating the interaction.

1990 • 69 citations

The gene for protein S maps near the centromere of human chromosome 3

1988 • 68 citations

Two Genes Homologous with Human Protein S cDNA Are Located on Chromosome 3

1987 • 65 citations

Reevaluation of total, free, and bound protein S and C4b-binding protein levels in plasma anticoagulated with citrate or hirudin

1992 • 63 citations

Laboratory Evaluation of Protein S Status

1990 • 59 citations

Molecular analysis of the gene for vitamin K dependent protein S and its pseudogene. Cloning and partial gene organization

1990 • 59 citations

Isoforms of human C4b-binding protein. II. Differential modulation of the C4BPA and C4BPB genes by acute phase cytokines.

1995 • 58 citations

Different Incidence of Venous Thrombosis in Patients with Inherited Deficiencies of Antithrombin III, Protein C and Protein S

1994 • 58 citations

Isoforms of human C4b-binding protein. I. Molecular basis for the C4BP isoform pattern and its variations in human plasma.

1995 • 55 citations

Partial protein S gene deletion in a family with hereditary thrombophilia

1989 • 55 citations

Congenital thrombophilia among patients with venous thromboembolism

1992 • 53 citations

Homzygous Protein S Deficiency due to a One Base Pair Deletion that Leads to a Stop Codon in Exon III of the Protein S Gene

1994 • 53 citations

A PCR-Based Linkage Map of Human Chromosome 1

1993 • 45 citations

Protein S deficiency type I: identification of point mutations in 9 of 10 families

1995 • 44 citations

Plasma protein S deficiency in familial thrombotic disease

1984 • 44 citations

The influence of low protein s plasma levels in young women, on the definition of normal range

1994 • 38 citations

Identification of Eight Point Mutations in Protein S Deficiency Type I – Analysis of 15 Pedigrees

1995 • 35 citations

A 5.3-kb deletion including exon XIII of the protein S alpha gene occurs in two protein S-deficient families [see comments]

1991 • 35 citations

A CCA/CCG neutral dimorphism in the codon for Pro 626 of the human protein S gene PSα (PROS1)

1991 • 34 citations

A 5.3-kb deletion including exon XIII of the protein S alpha gene occurs in two protein S-deficient families [see comments]

1991 • 33 citations

Familial protein S deficiency with a variant protein S molecule in plasma and platelets

1989 • 32 citations

Detection and characterization of seven novel protein S (PROS) gene lesions: evaluation of reverse transcript-polymerase chain reaction as a mutation screening strategy

1995 • 32 citations

Inherited protein S deficiency: Clinical manifestations and laboratory findings in 63 patients

1994 • 27 citations

A Novel Nonsense Mutation Associated with an Exon Skipping in a Patient with Hereditary Protein S Deficiency Type I

1996 • 21 citations

Study of a protein S gene polymorphism at DNA and mRNA level in a family with symptomatic protein S deficiency

1993 • 17 citations

Two Mutations in Exon XII of the Protein Sα Gene in Four Thrombophilic Families Resulting in Premature Stop Codons and Depressed Levels of Mutated mRNA

1996 • 15 citations

Five Novel Mutations of the Protein S Active Gene (PROS 1) in 8 Norman Families

1996 • 15 citations

First frameshift mutation in the active protein S gene associated with a quantitative hereditary deficiency.

1994 • 13 citations

First Case of Sporadic Protein S Deficiency due to a Novel Candidate Mutation, Ala 484 → Pro, in the Protein S Active Gene (PROSl)

1996 • 8 citations

Dinucleotide repeat polymorphism between the human C4BPA and C4BPB gene loci (1q32)

1992 • 4 citations

The gene for protein S maps near the centromere of human chromosome 3

1988 • 4 citations

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Absence of Linkage Between Type III Protein S Deficiency and the PROS1 and C4BP Genes in… (1997) – Blood | Metascience Observatory Explorer