Search Results - "Gandrille, S"

Platelet dysfunction associated with the novel Trp29Cys thromboxane A2 receptor variant by Mumford, A. D., Nisar, S., Darnige, L., Jones, M. L., Bachelot‐Loza, C., Gandrille, S., Zinzindohoue, F., Fischer, A.‐M., Mundell, S. J., Gaussem, P.

“…Summary Background Genetic variations that affect the structure of the thromboxane A2 receptor (TP receptor) provide insights into the function of this key…”
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Gross deletions/duplications in PROS1 are relatively common in point mutation-negative hereditary protein S deficiency by Pintao, Maria C, Garcia, A. A, Borgel, D, Alhenc-Gelas, M, Spek, C. A, de Visser, M. C. H, Gandrille, S, Reitsma, Pieter H

“…Hereditary protein S (PS) deficiency is an autosomal disorder caused by mutations in the PS gene (PROS1). Conventional PCR-based mutation detection identifies…”
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Late onset thrombosis in a case of severe protein S deficiency due to compound heterozygosity for PROS1 mutations by HEEB, M. J., GANDRILLE, S., FERNANDEZ, J. A., GRIFFIN, J. H., FEDULLO, P. F.

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Novel human pathological mutations. Gene symbol: PROS1. Disease: Protein S deficiency by Pintao, Maria, Garcia, A A, Borgel, D, Alhenc-Gelas, M, Spek, C A, de Visser, M C H, Gandrille, S, Reitsma, P H

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The protein S thrombin‐sensitive region modulates phospholipid binding and the γ‐carboxyglutamic acid‐rich (Gla) domain conformation in a non‐specific manner by SALLER, F., KAABACHE, T., AIACH, M., GANDRILLE, S., BORGEL, D.

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Incidence of Activated Protein C Resistance Caused by the ARG 506 GLN Mutation in Factor V in 113 Unrelated Symptomatic Protein C-Deficient Patients by Gandrille, S., Greengard, J.S., Alhenc-Gelas, M., Juhan-Vague, I., Abgrall, J.F., Jude, B., Griffin, J.H., Aiach, M.

“…Because multiple risk factors in one patient may increase the clinical expression of thrombophilia, we assessed the presence in protein C-deficient patients of…”
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A rapid screening method for the factor V Arg506-->Gln mutation by Gandrille, S, Alhenc-Gelas, M, Aiach, M

“…This study compared a rapid method to detect the nucleotide mutation 1691 G-->A, responsible for the factor V Arg506-->Gln substitution, with a previously…”
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Molecular bases of type II protein S deficiency: the I203‐D204 deletion in the EGF4 domain alters GLA domain function by BARONI, M., MAZZOLA, G., KAABACHE, T., BORGEL, D., GANDRILLE, S., D'ANGELO, S. VIGANO', MARCHETTI, G., DI IASIO, M. G., PINOTTI, M., D'ANGELO, A., BERNARDI, F.

“…Objective: To characterize the first type II protein S (PS) deficiency affecting the epidermal growth factor (EGF)4 domain, a calcium‐binding module with a…”
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Protein C and protein S deficiencies by Aiach, M, Borgel, D, Gaussem, P, Emmerich, J, Alhenc-Gelas, M, Gandrille, S

“…The protein C (PC) pathway, with its cofactor protein S (PS), is an important natural antithrombotic mechanism. Both PC and PS deficiencies have been…”
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A review of mutations causing deficiencies of antithrombin, protein C and protein S by Aiach, M, Gandrille, S, Emmerich, J

“…The mutations observed in patients with antithrombin and protein C deficiencies are mostly substitutions of one nucleotide, or deletions/insertions of fewer…”
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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 by Gandrille, S., Borgel, D., Eschwege-Gufflet, V., Aillaud, Mf, Dreyfus, M., Matheron, C., Gaussem, P., Abgrall, J.F., Jude, B., Sie, P., Toulon, P., Aiach, M.

“…To screen for point mutations causing protein S deficiency, we used a sequence of techniques specifically for the study of the protein S active gene, PSα. This…”
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A Mutation of the Active Protein S Gene Leading to an EGF1-Lacking Protein in a Family With Qualitative (Type II) Deficiency by Leroy-Matheron, C., Gouault-Heilmann, M., Aiach, M., Gandrille, S.

“…The genomic analysis of a 70-year-old man with recurrent deep venous thrombosis having a protein S (PS)-deficient phenotype corresponding to both type III and…”
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Implication of protein S thrombin-sensitive region with membrane binding via conformational changes in the gamma-carboxyglutamic acid-rich domain by Borgel, D, Gaussem, P, Garbay, C, Bachelot-Loza, C, Kaabache, T, Liu, W Q, Brohard-Bohn, B, Le Bonniec, B, Aiach, M, Gandrille, S

“…In the vitamin K-dependent protein family, only protein S (PS) contains a thrombin-sensitive region (TSR), located between the domain containing the…”
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The Ser 460 to Pro Substitution of the Protein S α (PROS1) Gene Is a Frequent Mutation Associated With Free Protein S (type IIa) Deficiency by Duchemin, J., Gandrille, S., Borgel, D., Feurgard, P., Alhenc-Gelas, M., Matheron, C., Dreyfus, M., Dupuy, E., Juhan-Vague, I., Aiach, M.

“…A Ser 460 to Pro mutation of protein S (PS), involving a T to C transition in exon XIII of the protein S α (PROS1) gene and known as the Heerlen polymorphism,…”
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PB0997 Utility of Thrombin Generation Assay for Inherited Thrombophilia Screening by Lecomte, M., Mauge, L., Gandrille, S., Quemeneur, T., Rousselin, C., Onraed, J., Feriel, J., Hémar, C.

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PB0994 Intronic Exploration of PROC in Patients with Unexplained Protein C Deficiencies by Rial, C., Gandrille, S., Helley, D., Presot, I., Bertil, S., De Mazancourt, P., Mauge, L.

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Identification of mutations in 90 of 121 consecutive symptomatic French patients with a type I protein C deficiency by GANDRILLE, S, AIACH, M

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Characterization of cleaved plasma protein S with a monoclonal antibody-based assay by Morboeuf, O, Borgel, D, Gaussem, P, Vincenot, A, Pittet, J L, Aiach, M, Gandrille, S

“…A monoclonal antibody (mAb 5A5G2) recognized cleaved plasma protein S (PS) but not uncleaved PS. Interestingly, mAb 5A5G2 did not recognize thrombin-cleaved…”
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Role of Fc gamma RIIA gene polymorphism in human platelet activation by monoclonal antibodies by Bachelot, C, Saffroy, R, Gandrille, S, Aiach, M, Rendu, F

“…The aim of this study was to determine if there is a correlation between the activity of a MoAb as an agonist and its ability to bind to the Fc platelet…”
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Adenosine diphosphate-induced platelet aggregation is associated with P2Y12 gene sequence variations in healthy subjects by FONTANA, Pierre, DUPONT, Annabelle, GANDRILLE, Sophie, BACHELOT-LOZA, Christilla, RENY, Jean-Luc, AIACH, Martine, GAUSSEM, Pascale

“…The adenosine diphosphate (ADP) receptor P2Y12 plays a pivotal role in platelet aggregation, as demonstrated by the benefit conferred by its blockade in…”
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