Citations for
1AT3, SERPINC1
Detection and characterisation of large SERPINC1 deletions in type I inherited antithrombin deficiency.
Picard V, Chen JM, Tardy B, Aillaud MF, Boiteux-Vergnes C, Dreyfus M, Emmerich J, Lavenu-Bombled C, Nowak-Göttl U, Trillot N, Aiach M, Alhenc-Gelas M.
Hum Genet 127(1):45-53. Epub 2009 Sep 17.PMID: 19760264 2010
2AT3, SERPINC1
Antithrombin III suppresses ADP-induced platelet granule secretion: inhibition of HSP27 phosphorylation.
Doi T, Adachi S, Takai S, Matsushima-Nishiwaki R, Kato H, Enomoto Y, Minamitani C, Otsuka T, Tokuda H, Akamatsu S, Iwama T, Kozawa O, Ogura S.
Arch Biochem Biophys 489(1-2):62-7. Epub 2009 Jul 23.PMID: 19631608 2009
3SERPINC1
Functional consequences of the prothrombotic SERPINC1 rs2227589 polymorphism on antithrombin levels.
Antón AI, Teruel R, Corral J, Mińano A, Martínez-Martínez I, Ordóńez A, Vicente V, Sánchez-Vega B.
Haematologica 94(4):589-92. Epub 2009 Feb 19.PMID: 19229049 2009
4AT3, SERPINC1
Detection of large deletion mutations in the SERPINC1 gene causing hereditary antithrombin deficiency by multiplex ligation-dependent probe amplification (MLPA).
Lee ST, Kim HJ, Kim DK, Schuit RJ, Kim SH.
J Thromb Haemost 6(4):701-3. Epub 2008 Jan 15. No abstract available. PMID: 18208532 2008
5SERPINC1, AT3
Report of a novel kindred with antithrombin heparin-binding site variant (47 Arg to His): demand for an automated progressive antithrombin assay to detect molecular variants with low thrombotic risk.
Rossi E, Chiusolo P, Za T, Marietti S, Ciminello A, Leone G, De Stefano V.
Thromb Haemost 98(3):695-7. No abstract available. Erratum in: Thromb Haemost. 2007 Oct;98(4):915. 2007
6SERPINC1
Clinical review: molecular mechanisms underlying the role of antithrombin in sepsis.
Wiedermann CJ.
Crit Care 10(1):209. Review. 2006
7AT3, SERPINC1
Characterization of two novel mutations of the antithrombin gene observed in Japanese thrombophilic patients.
Kurihara M, Watanabe K, Inoue S, Wada Y, Ono M, Wakiyama M, Iida H, Kinoshita S, Hamasaki N.
Thromb Res 115(5):351-8. 2005
8AT3, SERPINC1
Renovascular hypertension due to antithrombin deficiency in childhood.
Miura K, Takahashi T, Takahashi I, Komatsu M, Tsuchida S, Mikami T, Suzuki T, Takahashi S, Takada G.
Pediatr Nephrol 19(11):1294-6. 2004
9SERPINC1, AT3
Mutations in the shutter region of antithrombin result in formation of disulfide-linked dimers and severe venous thrombosis.
Corral J, Huntington JA, Gonz‡lez-Conejero R, Mushunje A, Navarro M, Marco P, Vicente V, Carrell RW.
J Thromb Haemost 2(6):931-9. 2004
10SERPINC1, AT3
A novel and de novo spontaneous point mutation (Glu271STOP) of the antithrombin gene results in a type I deficiency and thrombophilia.
Tarantino MD, et al.
Am J Hematol 60(2):126-9. 1999
11SERPINC1, AT3
Antithrombin Morioka (Cys 95-Arg) : a novel missense mutation causing type I antithrombin deficiency.
Ozawa T, et al.
Thromb Haemost 77 : 403-407. 1997
12APOA2, AT3, DEL1QM, F5TPH, SERPINC1
Interstitial deletion of chromosome 1q [del(1)(q24q25.3)] identified by fluorescence in situ hybridization and gene dosage analysis of apolipoprotein A-II, coagulation factor V, and antithrombin III.
Takano T, Yamanouchi Y, Mori Y, Kudo S, Nakayama T, Sugiura M, Hashira S, Abe T.
Am J Med Genet 68(2):207-10. 1997
13SERPINC1, AT3
Type I antithrombin deficiency : five novel mutations associated with thrombosis.
Daly M, et al.
Blood Coagul Fibrinolysis 7 : 139-143. 1996
14SERPINC1, AT3
Molecular genetics of human antithrombin deficiency.
Perry DJ, et al.
Hum Mutat 7 : 7-22. 1996
15SERPINC1, AT3
A novel nonsense mutation in the antithrombin III gene (Cys-4-stop) causing recurrent venous thrombosis.
Saleun S, et al.
Blood Coagul Fibrinolysis 7 : 578-579. 1996
16SERPINC1, AT3
Nonsense mutation Arg197stop in a Dutch family with type 1 hereditary antithrombin (AT) deficiency causing thrombophilia.
Michiels JJ, et al.
Thromb Res 78 : 251-254. 1995
17SERPINC1, AT3
Antithrombin-Gly 424 Arg : a novel point mutation responsible for type 1 antithrombin deficiency and neonatal thrombosis.
Jochmans K, et al.
Blood 83 : 146-151. 1994
18SERPINC1
(ATT) trinucleotide repeats in the antithrombin gene and their use in determining the origin of repeated mutations.
Olds RJ, et al.
Hum Mutat 4 : 31-41. 1994
19SERPINC1, AT3
Three novel missense mutations in the antithrombin III (AT3) gene causing recurrent venous thrombosis.
Millar DS, et al.
Hum Genet 94 : 509-512. 1994
20SERPINC1
Thromboembolic disease due to thermolabile conformational changes of antithrombin Rouen-VI (187 Asn-Asp).
Bruce D, et al.
J Clin Invest 94 : 2265-2274. 1994
21SERPINC1, AT3
Molecular basis of antithrombin type I deficiency : the first large in-frame deletion and two novel mutations in exon 6.
Emmerich J, et al.
Thromb Haemost 72 : 534-539. 1994
22SERPINC1, AT3
Hereditary antithrombin deficiency : heterogeneity of the molecular basis and mortality in Dutch families.
Van Boven HH, et al.
Blood 84 : 4209-4213. 1994
23SERPINC1
Molecular basis for type 1 antithrombin deficiency: identification of two novel point mutations and evidence for a de novo splice site mutation.
Jochmans K, et al.
Blood 84 : 3742-3748. 1994
24SERPINC1
Complete nucleotide sequence of the antithrombin gene : evidence for homologous recombination causing thrombophilia.
Olds RJ, et al.
Biochemistry 32 : 4216-4224. 1993
25SERPINC1
A recurrent deletion in the antithrombin gene, AT106-108-(6 bp), identified by DNA heteroduplex detection.
Olds RJ, et al.
Genomics 16 : 298-299. 1993
26SERPINC1
Trinucleotide repeat polymorphism in the human antithrombin III (AT3) gene.
Perry DJ.
Hum Mol Genet 2 : 618. 1993
27SERPINC1
Screening for mutations in the antithrombin III gene causing recurrent venous thrombosis by single-strand conformation polymorphism analysis.
Millar DS, et al.
Hum Mutat 2 : 324-326. 1993
28SERPINC1
Antithrombin III Nagasaki (Ser 116-Pro) : a heterozygous variant with defective heparin binding associated with thrombosis.
Okajima K, et al.
Blood 81 : 1300-1305. 1993
29SERPINC1
Identification of nine novel mutations in type I antithrombin deficiency by heteroduplex screening.
Chowdhury V, et al.
Br J Haematol 84 : 656-661. 1993
30SERPINC1
Antithrombin III Budapest : a single amino acid substitution (429Pro to Leu) in a region highly conserved in the serpin family.
Olds RJ, et al.
Blood 79 : 1206-1212. 1992
31SERPINC1, AT3
A novel missense mutation in the antithrombin III gene (Ser349-Pro) causing recurrent venous thrombosis.
Grundy CB, et al.
Hum Genet 88 : 707-708. 1992
32SERPINC1
Antithrombin-III-Stockholm : a codon 392 (Gly-Asp) mutation with normal heparin binding and impaired serine protease reactivity.
Blajchman MA, et al.
Blood 79 : 1428-1434. 1992
33SERPINC1, AT3
De novo splice site mutation in the antithrombin III (AT3) gene causing recurrent venous thrombosis : demonstration of exon skipping by ectopic transcript analysis.
Berg LP, et al.
Genomics 13 : 1359-1361. 1992
34SERPINC1, AT3
A novel missense mutation in the antithrombin III gene (Ala387-->Val) causing recurrent venous thrombosis.
White D, et al.
Hum Genet 90 : 472-473. 1992
35SERPINC1
A Nhel RFLP in the human antithrombin III gene (1q23-q25) (AT3).
Bock SC, et al.
Nucleic Acids Res 19 : 2519. 1991
36SERPINC1
Antithrombin Cambridge II, 384 Ala to Ser. Further evidence of the role of the reactive centre loop in the inhibitory function of the serpins.
Perry DJ, et al.
FEBS Lett 285 : 248-250. 1991
37SERPINC1
Recurrent deletion in the human antithrombin III gene.
Grundy CB, et al.
Blood 78 : 1027-1032. 1991
38SERPINC1
Molecular basis for antithrombin III type I deficiency : three novel mutations located in exon IV.
Vidaud D, et al.
Blood 78 : 2305-2309. 1991
39SERPINC1, AT3
Novel point mutations leading to type 1 antithrombin deficiency and thrombosis.
Olds RJ, et al.
Br J Haematol 78 : 408-413. 1991
40SERPINC1, AT3
Molecular basis for hereditary antithrombin III quantitative deficiencies : a stop codon in exon IIIa and a frameshift in exon VI.
Gandrille S, et al.
Br J Haematol 78 : 414-420. 1991
41SERPINC1
Important role of arginine 129 in heparin-binding site of antithrombin III. Identification of a novel mutation arginine 129 to glutamine.
Gandrille S, et al.
J Biol Chem 265 : 18997-19001. 1990
42SERPINC1
Antithrombin III Kumamoto : identification of a point mutation and genotype analysis of the family
Ueyama H, et al.
Thromb Haemost 63 : 231-234. 1990
43SERPINC1
Ddel polymorphism in intron 5 of ATIII gene.
Daly ME, et al.
Nucleic Acids Res 18 : 5583. 1990
44SERPINC1
Antithrombin III Padua 2: a single base substitution in exon 2 detected with PCR and direct genomic sequencing.
Olds RJ, et al.
Nucleic Acids Res 18 : 1926. 1990
45SERPINC1, AT3
A frameshift mutation leading to type 1 antithrombin deficiency and thrombosis.
Olds RJ, et al.
Blood 76 : 2182-2186. 1990
46SERPINC1
Human antithrombin III (AT3) gene length polymorphism revealed by the polymerase chain reaction.
Wu S, et al.
Nucleic Acids Res 17 : 6433. 1989
47SERPINC1
Antithrombin III Milano 2: a single base substitution in the thrombin binding domain detected with PCR and direct genomic sequencing.
Olds RJ, et al.
Nucleic Acids Res 17 : 10511. 1989
48SERPINC1
Antithrombin III Utah: proline-407 to leucine mutation in a highly conserved region near the inhibitor reactive site.
Bock SC, et al.
Biochemistry 27 : 6171-6178. 1988
49SERPINC1, AT3
Molecular genetic survey of 16 kindreds with hereditary antithrombin III deficiency.
Bock SC, et al.
Blood 70 : 1273-1278. 1987
50SERPINC1
Assignment of the human antithrombin III structural gene to chromosome1q23-25.
Bock SC, et al.
Cytogenet Cell Genet 39 : 67-69. 1985
51SERPINC1
Molecular genetic mapping of the structural gene for human antithrombinIII (AT3) to chromosome 1, region 1p31.1-->qter.
Kao FT, et al.
(HGM7) Cytogenet Cell Genet 37 : 505. 1984
52SERPINC1
Genetic mapping of the structural gene for antithrombin III to humanchromosome 1.
Kao FT, et al.
Hum Genet 67 : 34-36. 1984
53SERPINC1
DNA polymorphisms in the human antithrombin III (ATIII) gene.
Bock SC, et al.
(HGM7) Cytogenet Cell Genet 37 : 422-423. 1984
54SERPINC1
Assignment of the structural gene for the human antithrombin III tochromosome 1q23.
Bock SC, et al.
(HGM7) Cytogenet Cell Genet 37 : 423. 1984
55SERPINC1
Refined mapping of AT3 on chromosome 1.
Cousineau AJ, et al.
(HGM7) Cytogenet Cell Genet 37 : 440. 1983
56SERPINC1
Confirmation of linkage between antithrombin III and Duffy blood group and assignment of AT3 to 1q22-q25.
Winter JH, Bennett B, Watt JL, Brown T, San Roman C, Schinzel A, King J, Cook PJ.
Ann Hum Genet 46 : 29-34. 1982
57SERPINC1
Linkage relationships of dominant antithrombin III deficiency and the heterochromatic region of chromosome 1.
Magenis RE, et al.
Cytogenet Cell Genet 22 : 327-329. 1978
58SERPINC1, AT3
Linkage of antithrombin III deficiency to Duffy blood group.
Bishop DT, et al.
Am J Hum Genet 30 : 48A. 1978
59SERPINC1
Linkage study of antithrombin III.
Lovrien EW, et al.
Cytogenet Cell Genet 22 : 319-323. 1978
60SERPINC1, AT3
Inherited antithrombin deficiency causing thrombophilia.
Egeberg O.
Thromb Diath Haemorrh 13 : 516-530. 1965