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