Citations for
1SERPINA1, SPINT1, SPINT2, TMPRSS11B
HATL5: a cell surface serine protease differentially expressed in epithelial cancers.
Miller GS, Zoratti GL, Murray AS, Bergum C, Tanabe LM, List K.
PLoS One 9(2):e87675. doi: 10.1371/journal.pone.0087675. eCollection 2014. 2014
2COPD1, SERPINA1
A Novel SERPINA1 Mutation Causing Serum Alpha(1)-Antitrypsin Deficiency.
Saunders DN, Tindall EA, Shearer RF, Roberson J, Decker A, Wilson JA, Hayes VM.
PLoS One 7(12):e51762. doi: 10.1371/journal.pone.0051762. Epub 2012 Dec 12. 2012
3SERPINA1
Alpha 1-antitrypsin: a novel tumor-associated antigen identified in patients with early-stage breast cancer.
López-Árias E, Aguilar-Lemarroy A, Felipe Jave-Suárez L, Morgan-Villela G, Mariscal-Ramírez I, Martínez-Velázquez M, Alvarez AH, Gutiérrez-Ortega A, Hernández-Gutiérrez R.
Electrophoresis 33(14):2130-7. doi: 10.1002/elps.201100491. 2012
4SERPINA1
Three new alpha1-antitrypsin deficiency variants help to define a C-terminal region regulating conformational change and polymerization.
Fra AM, Gooptu B, Ferrarotti I, Miranda E, Scabini R, Ronzoni R, Benini F, Corda L, Medicina D, Luisetti M, Schiaffonati L.
PLoS One 7(6):e38405. doi: 10.1371/journal.pone.0038405. Epub 2012 Jun 18. 2012
5SERPINA1
Increased expression of alpha 1-anti-trypsin in the synovial tissues of patients with ankylosing spondylitis.
Sun S, Fang K, Zhao Y, Yan X, Chang X.
Clin Exp Rheumatol 30(1):39-44. Epub 2012 Mar 6. 2012
6SERPINA1
α1-antitrypsin insufficiency is a possible contributor to preterm premature rupture of membranes.
Baron J, Sheiner E, Abecassis A, Ashkenazi E, Shahaf G, Salem SY, Madar T, Twina G, Wiznitzer A, Holcberg G, Lewis EC.
J Matern Fetal Neonatal Med 25(7):934-7. doi: 10.3109/14767058.2011.600369. Epub 2011 Aug 16. 2012
7COPD1, SERPINA1
Targeted gene correction of α1-antitrypsin deficiency in induced pluripotent stem cells.
Yusa K, Rashid ST, Strick-Marchand H, Varela I, Liu PQ, Paschon DE, Miranda E, Ordóñez A, Hannan NR, Rouhani FJ, Darche S, Alexander G, Marciniak SJ, Fusaki N, Hasegawa M, Holmes MC, Di Santo JP, Lomas DA, Bradley A, Vallier L.
Nature 478(7369):391-4. doi: 10.1038/nature10424. 2011
8COPD1, SERPINA1
The prevalence of alpha-1 antitrypsin deficiency in Ireland.
Carroll TP, O'Connor CA, Floyd O, McPartlin J, Kelleher DP, O'Brien G, Dimitrov BD, Morris VB, Taggart CC, McElvaney NG.
Respir Res 12:91. doi: 10.1186/1465-9921-12-91. 2011
9SERPINA1
The role of proteases, endoplasmic reticulum stress and SERPINA1 heterozygosity in lung disease and α-1 anti-trypsin deficiency.
Greene CM, Hassan T, Molloy K, McElvaney NG.
Expert Rev Respir Med 5(3):395-411. doi: 10.1586/ers.11.20. Review. 2011
10SERPINA1
Alpha-1-antitrypsin is produced by human neutrophil granulocytes and their precursors and liberated during granule exocytosis.
Clemmensen SN, Jacobsen LC, Rørvig S, Askaa B, Christenson K, Iversen M, Jørgensen MH, Larsen MT, van Deurs B, Ostergaard O, Heegaard NH, Cowland JB, Borregaard N.
Eur J Haematol 86(6):517-30. doi: 10.1111/j.1600-0609.2011.01601.x. 2011
11SERPINA1, WBS
Alpha 1 antitrypsin deficiency alleles are associated with joint dislocation and scoliosis in Williams syndrome.
Morris CA, Pani AM, Mervis CB, Rios CM, Kistler DJ, Gregg RG.
Am J Med Genet C Semin Med Genet 154C(2):299-306.PMID: 20425789 2010
12COPD1, SERPINA1
Cardiovascular and musculskeletal co-morbidities in patients with alpha 1 antitrypsin deficiency.
Duckers JM, Shale DJ, Stockley RA, Gale NS, Evans BA, Cockcroft JR, Bolton CE.
Respir Res 11:173. doi: 10.1186/1465-9921-11-173. 2010
13SERPINA1
α-1 Antitrypsin regulates human neutrophil chemotaxis induced by soluble immune complexes and IL-8.
Bergin DA, Reeves EP, Meleady P, Henry M, McElvaney OJ, Carroll TP, Condron C, Chotirmall SH, Clynes M, O'Neill SJ, McElvaney NG.
J Clin Invest 120(12):4236-50. doi: 10.1172/JCI41196. Epub 2010 Nov 8. 2010
14SERPINA1
Alpha₁-antitrypsin deficiency-related alleles Z and S and the risk of Wegener's granulomatosis.
Mahr AD, Edberg JC, Stone JH, Hoffman GS, St Clair EW, Specks U, Dellaripa PF, Seo P, Spiera RF, Rouhani FN, Brantly ML, Merkel PA.
Arthritis Rheum 62(12):3760-7. doi: 10.1002/art.27742. 2010
15SERPINA1
Cholesterol rich lipid raft microdomains are gateway for acute phase protein, SERPINA1.
Subramaniyam D, Zhou H, Liang M, Welte T, Mahadeva R, Janciauskiene S.
Int J Biochem Cell Biol 42(9):1562-70. doi: 10.1016/j.biocel.2010.06.009. Epub 2010 Jun 16. 2010
16LMAN2, SERPINA1
Role of the lectin VIP36 in post-ER quality control of human alpha1-antitrypsin.
Reiterer V, Nyfeler B, Hauri HP.
Traffic 11(8):1044-55. doi: 10.1111/j.1600-0854.2010.01078.x. Epub 2010 May 7. 2010
17SERPINA1
Alpha-1 antitrypsin binds preprohepcidin intracellularly and prohepcidin in the serum.
Pandur E, Nagy J, Poór VS, Sarnyai A, Huszár A, Miseta A, Sipos K.
FEBS J 276(7):2012-21. 2009
18SERPINA1
Alpha 1 antitrypsin activity is decreased in human amnion in premature rupture of the fetal membranes.
Izumi-Yoneda N, Toda A, Okabe M, Koike C, Takashima S, Yoshida T, Konishi I, Saito S, Nikaido T.
Mol Hum Reprod 15(1):49-57. Epub 2008 Dec 10. 2009
19SERPINA1
Alpha-1 antitrypsin (alpha1-AT) plasma levels in lung, prostate and breast cancer patients.
El-Akawi ZJ, Al-Hindawi FK, Bashir NA.
Neuro Endocrinol Lett 29(4):482-4. 2008
20SERPINA1
Alpha1-antitrypsin inhibits the activity of the matriptase catalytic domain in vitro.
Janciauskiene S, Nita I, Subramaniyam D, Li Q, Lancaster JR Jr, Matalon S.
Am J Respir Cell Mol Biol 39(6):631-7. Epub 2008 Aug 21. 2008
21LMAN1, SERPINA1
Identification of ERGIC-53 as an intracellular transport receptor of alpha1-antitrypsin.
Nyfeler B, Reiterer V, Wendeler MW, Stefan E, Zhang B, Michnick SW, Hauri HP.
J Cell Biol 180(4):705-12. Epub 2008 Feb 18.PMID: 18283111 2008
22SERPINA1
Cryptic haplotypes of SERPINA1 confer susceptibility to chronic obstructive pulmonary disease.
Chappell S, Daly L, Morgan K, Guetta Baranes T, Roca J, Rabinovich R, Millar A, Donnelly SC, Keatings V, MacNee W, Stolk J, Hiemstra P, Miniati M, Monti S, O'Connor CM, Kalsheker N.
Hum Mutat 27(1):103-9. 2006
23SERPINI2, SERPINA1, SERPINB1, SERPINB5, SERPINB8, SERPINB4, TMPRSS3
Correlation of serpin-protease expression by comparative analysis of real-time PCR profiling data.
Badola S, Spurling H, Robison K, Fedyk ER, Silverman GA, Strayle J, Kapeller R, Tsu CA.
Genomics 88(2):173-84. Epub 2006 May 18. 2006
24SERPINA1, SERPINA2, SERPINA3, SERPINA4, SERPINA5, SERPINA6, SERPINA9, SERPINA10, SERPINA11, SERPINA12, SERPINA13, OTUB2, RPSAP4
Sequence organization and matrix attachment regions of the human serine protease inhibitor gene cluster at 14q32.1.
Namciu SJ, Friedman RD, Marsden MD, Sarausad LM, Jasoni CL, Fournier RE.
Mamm Genome 15(3):162-78. 2004
25COPD1, SERPINA1
Linkage analysis of alpha 1-antitrypsin deficiency: lessons for complex diseases.
Silverman EK, Mosley JD, Rao DC, Palmer LJ, Province MA, Elston RC, Weiss ST, Campbell EJ.
Hum Hered 52(4):223-32. 2001
26COPD1, SERPINA1
A linkage disequilibrium between genes at the serine protease inhibitor gene cluster on chromosome 14q32.1 is associated with Wegener's granulomatosis.
Borgmann S, Endisch G, Urban S, Sitter T, Fricke H.
Clin Immunol 98(2):244-8. 2001
27FOXO3, SERPINA1
A member of Forkhead family transcription factor, FKHRL1, is one of the downstream molecules of phosphatidylinositol 3-kinase-Akt activation pathway in erythropoietin signal transduction.
Kashii Y, Uchida M, Kirito K, Tanaka M, Nishijima K, Toshima M, Ando T, Koizumi K, Endoh T, Sawada K, Momoi M, Miura Y, Ozawa K, Komatsu N.
Blood 96(3):941-9. 2000
28SERPINA6, SERPINA1, SERPINA2
Long-range chromatin reorganization of the human serpin gene cluster at 14q32.1 accompanies gene activation and extinction in microcell hybrids.
Rollini P, et al.
Genomics 56(1):22-30. 1999
29HNF4A, HNF1A, SERPINA1
The HNF-4/HNF-1alpha transactivation cascade regulates gene activity and chromatin structure of the human serine protease inhibitor gene cluster at 14q32.1.
Rollini P, et al.
Proc Natl Acad Sci U S A 96(18):10308-10313. 1999
30SERPINA1
Mutation in the 3' region of the alpha-1-antitrypsin gene and chronic obstructive pulmonary disease.
Sandford AJ, Spinelli JJ, Weir TD, Pare PD.
J Med Genet 34(10):874-5. 1997
31SERPINA1
A new alpha 1-antitrypsin mutation, Thr-Met 85, (PI ZBristol) associated with novel electrophoretic properties.
Lovegrove JU, Jeremiah S, Gillett GT, Temple IK, Povey S, Whitehouse DB.
Ann Hum Genet 61(Pt 5):385-91. 1997
32SERPINA3, SERPINA6, SERPINA5, SERPINA1, SERPINA4, SERPINA2
A 370-kb cosmid contig of the serpin gene cluster on human chromosome 14q32.1: molecular linkage of the genes encoding alpha 1-antichymotrypsin, protein C inhibitor, kallistatin, alpha 1-antitrypsin, and corticosteroid-binding globulin.
Rollini P, Fournier RE.
Genomics 46(3):409-15. 1997
33SERPINA3, SERPINA6, SERPINA1, SERPINA2
Molecular linkage of the human alpha1-antitrypsin and corticosteroid-binding globulin genes on chromosome 14q32.1.
Rollini P, Fournier RE.
Mamm Genome 8(12):913-6. 1997
34SERPINA1
Identification and DNA sequence analysis of 15 new alpha1-antitrypsin variants, including two PI*Qo alleles and one deficient PI*M allele.
Faber JP, et al.
Am J Hum Genet 55 : 1113-1121. 1994
35SERPINA1
Point mutation in a 3' flanking sequence of the alpha-1-antitrypsin gene associated with chronic respiratory disease occurs in a regulatory sequence.
Morgan K, et al.
Hum Mol Genet 2 : 253-257. 1993
36SERPINA1
Dinucleotide repeat polymorphism at the PI locus.
Worthington J, et al.
Hum Mol Genet 2 : 2203. 1993
37SERPINA1
Characterization of a human alpha1-antitrypsin nuII allele involving aberrant mRNA splicing.
Laubach VE, et al.
Hum Mol Genet 2 : 1001-1005. 1993
38SERPINA1
A (CA)n repeat polymorphism at the 5' end of the alpha 1-antitrypsin gene (PI).
Byth BC, et al.
Hum Mol Genet 2 : 1752. 1993
39SERPINA1, COPD1
Genetic diversity from a limited repertoire of mutations on different common allelic backgrounds: alpha 1-antitrypsin deficiency variant Pduarte.
Hildesheim J, Kinsley G, Bissell M, Pierce J, Brantly M.
Hum Mutat 2(3):221-8. 1993
40SERPINA1
De novo mutation within the intron-exon junction in the PiZ allele of the alpha-1-antitrypsin gene.
Schwarzman AL, et al.
Hum Genet 90 : 169-170. 1992
41SERPINA1
Prenatal diagnosis of alpha-1-antitrypsin deficiency by PCR of linked polymorphisms : a study of 17 cases.
Abbott CM, et al.
Prenat Diagn 12 : 235-240. 1992
42SERPINA1
Alpha-antitrypsin alleles in patients with pulmonary emphysema, detected by DNA amplification (PCR) and oligonucleotide probes.
Bruun-Petersen K, et al.
Eur Respir J 5 : 531-537. 1992
43SERPINA1
Molecular characterization of the P and I variants of alpha1-antitrypsin.
Seri M, et al.
Int J Clin Lab Res 22 : 119-121. 1992
44SERPINA1
Detection of alpha1-antitrypsin Z and S mutations by polymerase chain reaction-mediated site-directed mutagenesis.
Tazelaar JP, et al.
Clin Chem 38 : 1486-1488. 1992
45HBE1, MYH7, SERPINA1
Dinucleotide repeat polymorphisms at the P1, HBE1 and MYH7 loci.
Rogaev EI, et al.
Hum Mol Genet 1 : 285. 1992
46SERPINA1
Met 358 to Arg mutation of alpha 1-antitrypsin associated with protein C deficiency in a patient with mild bleeding tendency.
Vidaud D, Emmerich J, Alhenc-Gelas M, Yvart J, Fiessinger JN, Aiach M.
J Clin Invest 89(5):1537-43. 1992
47SERPINA1
Evaluation of denaturing gradient gel electrophoresis (DGGE) as a routine procedure for use in gene mapping: investigation of alpha-1-antitrypsin (PI).
Johnson PH, et al.
(HGM11) Cytogenet Cell Genet 58 : 1987. 1991
48SERPINA1
Rapid detection of alpha-1-antitrypsin deficiency by analysis of a PCR-induced TaqI restriction site.
Dry PJ.
Hum Genet 87 : 742-744. 1991
49SERPINA1
Characterization of the molecular basis of the alpha1-antitrypsin F allele.
Okayama H, et al.
Am J Hum Genet 48 : 1154-1158. 1991
50SERPINA1
Siiyama (serine 53 (TTC) to phenylalanine 53 (TTC)). A new alpha1-antitrypsin-deficient variant with mutation on a predicted conserved residue of the serine backbone.
Seyama K, et al.
J Biol Chem 266 : 12627-12632. 1991
51SERPINA1
DNA polymorphisms associated with a new alpha-1-antitrypsin PI Q0 variant (PI Q0 riedenburg).
Poller W, et al.
Hum Genet 86 : 522-524. 1991
52SERPINA1
Molecular characterization of two alpha-1-antitrypsin deficiency variants : proteinase inhibitor (Pi) Null (Newport)(Gly115-Ser) and (Pi) Z Wrexham (Ser19-Leu).
Graham A, et al.
Hum Genet 85 : 537-540. 1990
53SERPINA1, SERPINA3
A physical map of the human PI and AACT genes.
Sefton L, et al.
Genomics 7 : 382-388. 1990
54SERPINA1
A NulI deficiency allele of alpha1-antitrypsin, QOludwigshafen, with altered tertiary structure.
Fraizer GC, et al.
J Clin Invest 86 : 1878-1884. 1990
55SERPINA1
Alpha 1-antitrypsin W bethesda: molecular basis of an unusual alpha 1-antitrypsin deficiency variant.
Holmes MD, et al.
Biochem Biophys Res Commun 170 : 1013-1020. 1990
56SERPINA1
Alpha-I-antitrypsin Null(isola di procida) : an alpha-I-antitrypsin deficiency allele caused by deletion of AII alpha-I-antitrypsin coding exons.
Takahashi H, et al.
Am J Hum Genet 47 : 403-413. 1990
57SERPINA1, COPD1
Molecular characterisation of two alpha-1-antitrypsin deficiency variants: proteinase inhibitor (Pi) Null(Newport) (Gly115----Ser) and (Pi) Z Wrexham (Ser-19----Leu).
Graham A, Kalsheker NA, Bamforth FJ, Newton CR, Markham AF.
Hum Genet 85(5):537-40. 1990
58SERPINA1
Molecular characterization of a ring chromosome 14 showing that the PI locus is centromeric to the D14S1 and IGH loci.
Keyeux G, Gilgenkrantz S, Lefranc G, Lefranc MP.
Hum Genet 82 : 219-222. 1989
59SERPINA1
PstI polymorphism of the alpha1-antytrypsin-like gene.
Poller W, et al.
Nucleic Acids Res 17 : 2151. 1989
60SERPINA1
The alpha-1-antitrypsin gene and its deficiency states.
Crystal RG.
Trends Genet 5 : 411-417. 1989
61SERPINA1
Molecular characterisation of three alpha-1-antitrypsin deficiency variants : proteinase inhibitor (Pi) null(cardiff) (Asp256-Val); Pi M(malton) (Phe-deletion) and PiI (Arg-Cys).
Graham A, et al.
Hum Genet 84 : 55-58. 1989
62SERPINA1
In frame single codon deletion in the Mmalton deficiency allele of alpha-1-antitrypsin.
Fraizer GC, et al.
Am J Hum Genet 44 : 894-902. 1989
63SERPINA1
Molecular basis of the liver and lung disease associated with the alpha 1-antitrypsin deficiency allele Mmalton.
Curiel DT, et al.
J Biol Chem 264 : 13938-13945. 1989
64SERPINA1
A Pro->Leu substitution in codon 369 of the alpha-1-antitrypsin deficiency variant PI MHeerlen.
Hofker MH, et al.
Hum Genet 81 : 264-268. 1989
65SERPINA1
In vitro amplification of the alpha1-antitrypsin gene : application to prenatal diagnosis.
Hejtmancik JF, et al.
Prenat Diagn 9 : 177-186. 1989
66SERPINA1
Prenatal diagnosis of alpha-1-antitrypsin deficiency using polymerase chain reaction (PCR). Comparison of conventional RFLP methods with PCR used in combination with allele specific oligonucleotides or RFLP analysis.
Schwartz M, et al.
Clin Genet 36 : 419-426. 1989
67SERPINA1
Characterization of the gene and protein of the common alpha-1-antitrypsin normal M2 allele.
Nukiwa T, et al.
Am J Hum Genet 43 : 322-330. 1988
68SERPINA3, SERPINA1
Linkage relations of human antichymotrypsin.
Abeliovich D, et al.
(HGM9) Cytogenet Cell Genet 46 : 565. 1987
69SERPINA1, D14S1
Linkage analysis of PI and D14S1.
Doohan J, et al.
(HGM9) Cytogenet Cell Genet 46 : 607. 1987
70SERPINA1
Alpha1-antitrypsin null(granite falls), a nonexpressing alpha1-antitrypsin gene associated with a frameshift to stop mutation in a coding exon.
Nukiwa T, et al.
J Biol Chem 262 : 11909-12004. 1987
71SERPINA1, SERPINA2, SERPINA3, SERPINA@14
Physical linkage between members of the alpha-1-antitrypsin gene family.
Kearney P, et al.
(HGM9) Cytogenet Cell Genet 46 : 637. 1987
72SERPINA3, SERPINA1
Regional localization of alpha1-antichymotrypsin (AACT) to 14q32.1 and its proximity to alpha1-antitrypsin (PI) by pulsed field gel electrophoresis.
Cox DW, et al.
(HGM9) Cytogenet Cell Genet 46 : 600. 1987
73SERPINA1
Comparison of cytologic and genetic distances between long arm subtelomeric markers of human autosome 14 suggests uneven distribution of crossing-over.
Purrello M, et al.
Cytogenet Cell Genet 44 : 32-40. 1987
74SERPINA1
Alpha 1-antitrypsin-related gene (ATR) for prenatal diagnosis.
Abbott CM, et al.
Lancet I : 1425-1426. 1987
75SERPINA1
DNA restriction-site polymorphisms associated with the alpha-1-antitrypsin gene.
Cox DW, et al.
Am J Hum Genet 41 : 891-906. 1987
76SERPINA1
RFLP for a gene-related sequence of alpha 1-antitrypsin (AAT).
Hodgson I, Kalsheker N.
Nucleic Acids Res 14 : 6779. 1986
77SERPINA1
Risk of cirrhosis and primary liver cancer in alpha-1-antitrypsin deficiency.
Eriksson S, et al.
N Engl J Med 314 : 736-739. 1986
78SERPINA3, SERPINA1
Regional location of alpha-1-antichymotrypsin and alpha-1-antitrypsin genes on human chromosome 14.
Rabin M, et al.
Somat Cell Mol Genet 12 : 209-214. 1986
79SERPINA1, COPD1
Alpha 1-antitrypsin deficiency and emphysema caused by homozygous inheritance of non-expressing alpha 1-antitrypsin genes.
Garver RI Jr, Mornex JF, Nukiwa T, Brantly M, Courtney M, LeCocq JP, Crystal RG.
N Engl J Med 314(12):762-6. No abstract available. 1986
80SERPINA1
Chromosomal localization of the human alpha-1-antitrypsin gene (PI) to 14q31-32.
Schroeder WT, et al.
Am J Hum Genet 37 : 868-872. 1985
81SERPINA3, SERPINA1
Human alpha-1-antichymotrypsin (AACT) and alpha-1-antitrypsin (PI) genes map to the same region on chromosome 14.
Rabin M, et al.
(HGM8) Cytogenet Cell Genet 40 : 728. 1985
82SERPINA1
Two patients with interstitial del(14q), one with features of Holt-Oram syndrome. Exclusion mapping of PI (alpha-1-antitrypsin).
Turleau C, et al.
Ann Genet 27 : 237-240. 1984
83SERPINA1
Assignment of the alpha-1-antitrypsin gene and a sequence-related gene to human chromosome 14 by molecular hybridization.
Lai EC, et al.
Am J Hum Genet 35 : 385-392. 1983
84SERPINA1
Activation of human alpha-1-antitrypsin gene in rat hepatoma x human fetal liver cell hybrids depends on presence of human chromosome 14.
Pearson SJ, et al.
Somatic Cell Genet 9 : 567-592. 1983
85SERPINA1
Mutation of antitrypsin to antithrombin. Alpha 1-antitrypsin Pittsburgh (358 Met-Arg), a fatal bleeding disorder.
Owen MC, et al.
N Engl J Med 309 : 694-698. 1983
86SERPINA1
Assignment of human alpha-1 antitrypsin to chromosome 14 by somatic cell hybrid analysis.
Darlington GJ, et al.
Proc Natl Acad Sci U S A 79 : 870-873. 1982
87SERPINA1
The PI polymorphism. Genetic, biochemical, and clinical aspects of human alpha-1-antitrypsin.
Fagerhol MK, et al.
Adv Hum Genet 11 : 1-62. 1981
88SERPINA1, COPD1
Alpha 1-antitrypsin in patients with hepatocellular carcinoma and chronic active hepatitis.
Fargion S, Klasen EC, Lalatta F, Sangalli G, Tommasini M, Fiorelli G.
Clin Genet 19(2):134-9. 1981