131 related articles for article (PubMed ID: 20022358)
1. A novel splice site mutation in intron C of PROS1 leads to markedly reduced mutant mRNA level, absence of thrombin-sensitive region, and impaired secretion and cofactor activity of mutant protein S.
Okada H; Kunishima S; Hamaguchi M; Takagi A; Yamamoto K; Takamatsu J; Matsushita T; Saito H; Kojima T; Yamazaki T
Thromb Res; 2010 May; 125(5):e246-50. PubMed ID: 20022358
[TBL] [Abstract][Full Text] [Related]
2. One novel and one recurrent mutation in the PROS1 gene cause type I protein S deficiency in patients with pulmonary embolism associated with deep vein thrombosis.
Mizukami K; Nakabayashi T; Naitoh S; Takeda M; Tarumi T; Mizoguchi I; Ieko M; Koike T
Am J Hematol; 2006 Oct; 81(10):787-97. PubMed ID: 16868938
[TBL] [Abstract][Full Text] [Related]
3. A novel G-to-A mutation in the intron-N of the protein S gene leading to abnormal RNA splicing in a patient with protein S deficiency.
D'Andrea G; Di Perna P; Brancaccio V; Faioni EM; Castaman G; Cibelli G; Di Minno G; Margaglione M;
Haematologica; 2003 Apr; 88(4):459-64. PubMed ID: 12681974
[TBL] [Abstract][Full Text] [Related]
4. Topological studies of the amino terminal modules of vitamin K-dependent protein S using monoclonal antibody epitope mapping and molecular modeling.
Giri TK; Villoutreix BO; Wallqvist A; Dahlbäck B; de Frutos PG
Thromb Haemost; 1998 Nov; 80(5):798-804. PubMed ID: 9843174
[TBL] [Abstract][Full Text] [Related]
5. Implication of protein S thrombin-sensitive region with membrane binding via conformational changes in the gamma-carboxyglutamic acid-rich domain.
Borgel D; Gaussem P; Garbay C; Bachelot-Loza C; Kaabache T; Liu WQ; Brohard-Bohn B; Le Bonniec B; Aiach M; Gandrille S
Biochem J; 2001 Dec; 360(Pt 2):499-506. PubMed ID: 11716779
[TBL] [Abstract][Full Text] [Related]
6. A novel nonsense mutation associated with an exon skipping in a patient with hereditary protein S deficiency type I.
Okamoto Y; Yamazaki T; Katsumi A; Kojima T; Takamatsu J; Nishida M; Saito H
Thromb Haemost; 1996 Jun; 75(6):877-82. PubMed ID: 8822579
[TBL] [Abstract][Full Text] [Related]
7. Functional consequences of mutations in amino acid residues that stabilize calcium binding to the first epidermal growth factor homology domain of human protein C.
Geng JP; Cheng CH; Castellino FJ
Thromb Haemost; 1996 Nov; 76(5):720-8. PubMed ID: 8950780
[TBL] [Abstract][Full Text] [Related]
8. Optimization of a simple and rapid single-strand conformation analysis for detection of mutations in the PROS1 gene: identification of seven novel mutations and three novel, apparently neutral, variants.
Espinosa-Parrilla Y; Morell M; Borrell M; Souto JC; Fontcuberta J; Estivill X; Sala N
Hum Mutat; 2000; 15(5):463-73. PubMed ID: 10790208
[TBL] [Abstract][Full Text] [Related]
9. Protein S Thr103Asn mutation associated with type II deficiency reproduced in vitro and functionally characterised.
Giri TK; García de Frutos P; Dahlbäck B
Thromb Haemost; 2000 Sep; 84(3):413-9. PubMed ID: 11019964
[TBL] [Abstract][Full Text] [Related]
10. A theoretical model for the Gla-TSR-EGF-1 region of the anticoagulant cofactor protein S: from biostructural pathology to species-specific cofactor activity.
Villoutreix BO; Teleman O; Dahlbäck B
J Comput Aided Mol Des; 1997 May; 11(3):293-304. PubMed ID: 9263856
[TBL] [Abstract][Full Text] [Related]
11. Compound heterozygous mutations identified in severe type I protein S deficiency impaired the secretion of protein S.
Zhou J; Shen W; Gu Y; Li M; Shen W
J Clin Pathol; 2020 Jan; 73(1):7-13. PubMed ID: 31422373
[TBL] [Abstract][Full Text] [Related]
12. Functional characterization of twelve natural PROS1 mutations associated with anticoagulant protein S deficiency.
Hurtado B; Muñoz X; Mulero MC; Navarro G; Domènech P; García de Frutos P; Pérez-Riba M; Sala N
Haematologica; 2008 Apr; 93(4):574-80. PubMed ID: 18322254
[TBL] [Abstract][Full Text] [Related]
13. In vitro characterisation of two naturally occurring mutations in the thrombin-sensitive region of anticoagulant protein S.
Giri TK; de Frutos PG; Yamazaki T; Villoutreix BO; Dahlbäck B
Thromb Haemost; 1999 Dec; 82(6):1627-33. PubMed ID: 10613646
[TBL] [Abstract][Full Text] [Related]
14. The gamma-carboxyglutamic acid domain of anticoagulant protein S is involved in activated protein C cofactor activity, independently of phospholipid binding.
Saller F; Villoutreix BO; Amelot A; Kaabache T; Le Bonniec BF; Aiach M; Gandrille S; Borgel D
Blood; 2005 Jan; 105(1):122-30. PubMed ID: 15308562
[TBL] [Abstract][Full Text] [Related]
15. PROS1 analysis in 87 pedigrees with hereditary protein S deficiency demonstrates striking genotype-phenotype associations.
Ten Kate MK; Platteel M; Mulder R; Terpstra P; Nicolaes GA; Reitsma PH; van der Steege G; van der Meer J
Hum Mutat; 2008 Jul; 29(7):939-47. PubMed ID: 18435454
[TBL] [Abstract][Full Text] [Related]
16. Contributions of Gla and EGF-like domains to the function of vitamin K-dependent coagulation factors.
Stenflo J
Crit Rev Eukaryot Gene Expr; 1999; 9(1):59-88. PubMed ID: 10200912
[TBL] [Abstract][Full Text] [Related]
17. Erosive vitreoretinopathy and wagner disease are caused by intronic mutations in CSPG2/Versican that result in an imbalance of splice variants.
Mukhopadhyay A; Nikopoulos K; Maugeri A; de Brouwer AP; van Nouhuys CE; Boon CJ; Perveen R; Zegers HA; Wittebol-Post D; van den Biesen PR; van der Velde-Visser SD; Brunner HG; Black GC; Hoyng CB; Cremers FP
Invest Ophthalmol Vis Sci; 2006 Aug; 47(8):3565-72. PubMed ID: 16877430
[TBL] [Abstract][Full Text] [Related]
18. Two distinct novel splice site mutations in a compound heterozygous patient with protein S deficiency.
Yamazaki T; Katsumi A; Okamoto Y; Takafuta T; Tsuzuki S; Kagami K; Sugiura I; Kojima T; Fujimura K; Saito H
Thromb Haemost; 1997 Jan; 77(1):14-20. PubMed ID: 9031442
[TBL] [Abstract][Full Text] [Related]
19. Homozygous protein C deficiency: identification of a novel missense mutation that causes impaired secretion of the mutant protein C.
Yamamoto K; Matsushita T; Sugiura I; Takamatsu J; Iwasaki E; Wada H; Deguchi K; Shirakawa S; Saito H
J Lab Clin Med; 1992 Jun; 119(6):682-9. PubMed ID: 1593215
[TBL] [Abstract][Full Text] [Related]
20. Chemical synthesis of human protein S thrombin-sensitive module and first epidermal growth factor module.
Hackeng TM; Dawson PE; Kent SB; Griffin JH
Biopolymers; 1998 Aug; 46(2):53-63. PubMed ID: 9664841
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
