506 related articles for article (PubMed ID: 16868938)
1. 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]
2. 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]
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. 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]
5. Identification of protein Salpha gene mutations including four novel mutations in eight unrelated patients with protein S deficiency.
Okada H; Takagi A; Murate T; Adachi T; Yamamoto K; Matsushita T; Takamatsu J; Sugita K; Sugimoto M; Yoshioka A; Yamazaki T; Saito H; Kojima T
Br J Haematol; 2004 Jul; 126(2):219-25. PubMed ID: 15238143
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. A novel nonsense mutation Tyr301* of PROS1 causing protein S deficiency.
Jang MA; Kim SH; Kim DK; Kim HJ
Blood Coagul Fibrinolysis; 2015 Mar; 26(2):223-4. PubMed ID: 25255242
[TBL] [Abstract][Full Text] [Related]
8. Two mutations in exon XII of the protein S alpha gene in four thrombophilic families resulting in premature stop codons and depressed levels of mutated mRNA.
Andersen BD; Lind B; Philips M; Hansen AB; Ingerslev J; Thorsen S
Thromb Haemost; 1996 Aug; 76(2):143-50. PubMed ID: 8865520
[TBL] [Abstract][Full Text] [Related]
9. Protein S gene analysis reveals the presence of a cosegregating mutation in most pedigrees with type I but not type III PS deficiency.
Espinosa-Parrilla Y; Morell M; Souto JC; Tirado I; Fontcuberta J; Estivill X; Sala N
Hum Mutat; 1999; 14(1):30-9. PubMed ID: 10447256
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. Characterization and structural impact of five novel PROS1 mutations in eleven protein S-deficient families.
Andersen BD; Bisgaard ML; Lind B; Philips M; Villoutreix B; Thorsen S
Thromb Haemost; 2001 Dec; 86(6):1392-9. PubMed ID: 11776305
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. Three novel mutations in five unrelated subjects with hereditary protein S deficiency type I.
Reitsma PH; Ploos van Amstel HK; Bertina RM
J Clin Invest; 1994 Feb; 93(2):486-92. PubMed ID: 8113388
[TBL] [Abstract][Full Text] [Related]
14. Clinical Manifestation and Mutation Spectrum of 53 Unrelated Pedigrees with Protein S Deficiency in China.
Li L; Wu X; Wu W; Ding Q; Cai X; Wang X
Thromb Haemost; 2019 Mar; 119(3):449-460. PubMed ID: 30669159
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. Identification of eight point mutations in protein S deficiency type I--analysis of 15 pedigrees.
Gómez E; Poort SR; Bertina RM; Reitsma PH
Thromb Haemost; 1995 May; 73(5):750-5. PubMed ID: 7482398
[TBL] [Abstract][Full Text] [Related]
17. Hereditary protein C deficiency associated with mutations in exon IX of the protein C gene.
Doig RG; Begley CG; McGrath KM
Thromb Haemost; 1994 Aug; 72(2):203-8. PubMed ID: 7831652
[TBL] [Abstract][Full Text] [Related]
18. A quantitative protein S deficiency associated with a novel nonsense mutation and markedly reduced levels of mutated mRNA.
Yamazaki T; Hamaguchi M; Katsumi A; Kagami K; Kojima T; Takamatsu J; Saito H
Thromb Haemost; 1995 Aug; 74(2):590-5. PubMed ID: 8584989
[TBL] [Abstract][Full Text] [Related]
19. [A point mutation at Arg169 (CGG-->TGG) in hereditary protein C deficiency].
Morishita E; Asakura H; Saito M; Yamazaki M; Ontachi Y; Mizutani T; Kato M; Nakao S
Rinsho Ketsueki; 2001 Feb; 42(2):104-9. PubMed ID: 11280915
[TBL] [Abstract][Full Text] [Related]
20. [Recurrent deep vein thrombosis caused by heterozygous missense mutation of the protein S gene: genetic analysis of a case].
Ye X; Liu XL; Feng Y; Zhou XH; Xing ZF
Nan Fang Yi Ke Da Xue Xue Bao; 2011 Jun; 31(7):1228-31. PubMed ID: 21764702
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]