-
2
-
-
0014530551
-
Cirrhosis associated with alpha-1-antitrypsin deficiency: A previously unrecognized inherited disorder
-
Sharp HL, Bridges RA, Krivit W, Freier EF. Cirrhosis associated with alpha-1-antitrypsin deficiency: a previously unrecognized inherited disorder. J Lab Clin Med. 1969;73(6):934-939.
-
(1969)
J Lab Clin Med
, vol.73
, Issue.6
, pp. 934-939
-
-
Sharp, H.L.1
Bridges, R.A.2
Krivit, W.3
Freier, E.F.4
-
3
-
-
0029963017
-
1-antitrypsin deficiency: Evaluation of bronchiectasis with CT
-
1-antitrypsin deficiency: evaluation of bronchiectasis with CT. Radiology. 1996;199(1):137-141.
-
(1996)
Radiology
, vol.199
, Issue.1
, pp. 137-141
-
-
King, M.A.1
Stone, J.A.2
Diaz, P.T.3
-
4
-
-
0030873292
-
Atopy, asthma, and emphysema in patients with severe alpha-1-antitrypsin deficiency
-
Eden E, Mitchell D, Mehlman B, et al. Atopy, asthma, and emphysema in patients with severe alpha-1-antitrypsin deficiency. Am J Respir Crit Care Med. 1997;156(1):68-74.
-
(1997)
Am J Respir Crit Care Med
, vol.156
, Issue.1
, pp. 68-74
-
-
Eden, E.1
Mitchell, D.2
Mehlman, B.3
-
5
-
-
0029925466
-
C-antineutrophil cytoplasmic antibody positivity in vasculitis patients is associated with the Z allele of alpha-1-antitrypsin, and the P-antineutrophil cytoplasmic antibody positivity with the S allele
-
Griffith ME, Lovegrove JU, Gaskin G, Whitehouse DB, Pusey CD. C-antineutrophil cytoplasmic antibody positivity in vasculitis patients is associated with the Z allele of alpha-1-antitrypsin, and the P-antineutrophil cytoplasmic antibody positivity with the S allele. Nephrol Dial Transplant. 1996;11(3):438-443.
-
(1996)
Nephrol Dial Transplant
, vol.11
, Issue.3
, pp. 438-443
-
-
Griffith, M.E.1
Lovegrove, J.U.2
Gaskin, G.3
Whitehouse, D.B.4
Pusey, C.D.5
-
6
-
-
0021920535
-
Relationship between Weber-Christian panniculitis and the ZZ phenotype of alpha1-antitrypsin
-
Bleumink E, Klokke AH. Relationship between Weber-Christian panniculitis and the ZZ phenotype of alpha1-antitrypsin. Arch Dermatol Res. 1985;277(4):328-329.
-
(1985)
Arch Dermatol Res
, vol.277
, Issue.4
, pp. 328-329
-
-
Bleumink, E.1
Klokke, A.H.2
-
7
-
-
0030610007
-
1-proteinase inhibitor by human-derived epithelial cells
-
1-proteinase inhibitor by human-derived epithelial cells. J Biol Chem. 1997;272(13): 8250-8255.
-
(1997)
J Biol Chem
, vol.272
, Issue.13
, pp. 8250-8255
-
-
Cichy, J.1
Potempa, J.2
Travis, J.3
-
8
-
-
0028178690
-
Secretion of alpha 1-antitrypsin by alveolar epithelial cells
-
Venembre P, Boutten A, Seta N, et al. Secretion of alpha 1-antitrypsin by alveolar epithelial cells. FEBS Lett. 1994;346(2-3):171-174.
-
(1994)
FEBS Lett
, vol.346
, Issue.2-3
, pp. 171-174
-
-
Venembre, P.1
Boutten, A.2
Seta, N.3
-
9
-
-
0020075782
-
Morphological identification of alpha-1-antitrypsin in the human small intestine
-
Geboes K, Ray MB, Rutgeerts P, Callea F, Desmet VJ, Vantrappen G. Morphological identification of alpha-1-antitrypsin in the human small intestine. Histopathology. 1982;6(1):55-60.
-
(1982)
Histopathology
, vol.6
, Issue.1
, pp. 55-60
-
-
Geboes, K.1
Ray, M.B.2
Rutgeerts, P.3
Callea, F.4
Desmet, V.J.5
Vantrappen, G.6
-
10
-
-
0030472563
-
Activated neutrophils secrete stored alpha-1 antitrypsin
-
Paakko P, Kirby M, du Bois RM, Gillissen A, Ferrans VJ, Crystal RG. Activated neutrophils secrete stored alpha-1 antitrypsin. Am J Respir Crit Care Med. 1996;154(6 pt 1):1829-1833.
-
(1996)
Am J Respir Crit Care Med
, vol.154
, Issue.6 PART. 1
, pp. 1829-1833
-
-
Paakko, P.1
Kirby, M.2
du Bois, R.M.3
Gillissen, A.4
Ferrans, V.J.5
Crystal, R.G.6
-
11
-
-
0015857329
-
Interrelationships between the human alveolar macrophage and alpha-1-antitrypsin
-
Cohen AB. Interrelationships between the human alveolar macrophage and alpha-1-antitrypsin. J Clin Invest. 1973;52(11):2793-2799.
-
(1973)
J Clin Invest
, vol.52
, Issue.11
, pp. 2793-2799
-
-
Cohen, A.B.1
-
12
-
-
0022257475
-
DNA restriction fragments associated with alpha 1-antitrypsin indicate a single origin for the deficiency allele PI Z
-
Cox DW, Woo SL, Mansfield T. DNA restriction fragments associated with alpha 1-antitrypsin indicate a single origin for the deficiency allele PI Z. Nature. 1985;316(6023):79-81.
-
(1985)
Nature
, vol.316
, Issue.6023
, pp. 79-81
-
-
Cox, D.W.1
Woo, S.L.2
Mansfield, T.3
-
14
-
-
0036433482
-
Worldwide racial and ethnic distribution of alpha1-antitrypsin deficiency: Summary of an analysis of published genetic epidemiologic surveys
-
de Serres FJ. Worldwide racial and ethnic distribution of alpha1-antitrypsin deficiency: summary of an analysis of published genetic epidemiologic surveys. Chest. 2002;122(5);1818-1829.
-
(2002)
Chest
, vol.122
, Issue.5
, pp. 1818-1829
-
-
de Serres, F.J.1
-
15
-
-
0028864726
-
Alpha 1-antitrypsin-deficient variant Siiyama (Ser53[TCC] to Phe53[TTC]) is prevalent in Japan. Status of alpha 1-antitrypsin deficiency in Japan
-
Seyama K, Nukiwa T, Souma S, Shimizu K, Kira S. Alpha 1-antitrypsin-deficient variant Siiyama (Ser53[TCC] to Phe53[TTC]) is prevalent in Japan. Status of alpha 1-antitrypsin deficiency in Japan. Am J Respir Crit Care Med. 1995;152(6 pt 1):2119-2126.
-
(1995)
Am J Respir Crit Care Med
, vol.152
, Issue.6 PART. 1
, pp. 2119-2126
-
-
Seyama, K.1
Nukiwa, T.2
Souma, S.3
Shimizu, K.4
Kira, S.5
-
16
-
-
20144377618
-
Prevalence and phenotype of subjects carrying rare variants in the Italian registry for alpha1-antitrypsin deficiency
-
Ferrarotti I, Baccheschi J, Zorzetto M, Tinelli C, Corda L, Balbi B, et al. Prevalence and phenotype of subjects carrying rare variants in the Italian registry for alpha1-antitrypsin deficiency. J Med Genet. 2005; 42(3):282-287.
-
(2005)
J Med Genet
, vol.42
, Issue.3
, pp. 282-287
-
-
Ferrarotti, I.1
Baccheschi, J.2
Zorzetto, M.3
Tinelli, C.4
Corda, L.5
Balbi, B.6
-
17
-
-
0033859938
-
Molecular mechanisms of alpha1-antitrypsin null alleles
-
Lee JH, Brantly M. Molecular mechanisms of alpha1-antitrypsin null alleles. Respir Med. 2000;94(Suppl C):S7-S11.
-
(2000)
Respir Med
, vol.94
, Issue.SUPPL. C
-
-
Lee, J.H.1
Brantly, M.2
-
19
-
-
0018128288
-
Natural history and life expectancy in severe alpha1-antitrypsin deficiency
-
Larsson C. Natural history and life expectancy in severe alpha1-antitrypsin deficiency, PiZ. Acta Med Scand. 1798;204(5):345-351.
-
(1798)
PiZ. Acta Med Scand
, vol.204
, Issue.5
, pp. 345-351
-
-
Larsson, C.1
-
20
-
-
0022638237
-
Alpha 1-antitrypsin Pi-types in 965 COPD patients
-
Lieberman J, Winter B, Sastre A. Alpha 1-antitrypsin Pi-types in 965 COPD patients. Chest. 1986;89(3):370-373.
-
(1986)
Chest
, vol.89
, Issue.3
, pp. 370-373
-
-
Lieberman, J.1
Winter, B.2
Sastre, A.3
-
21
-
-
0019787989
-
Replacement therapy of alpha 1-antitrypsin deficiency. Reversal of protease-antiprotease imbalance within the alveolar structures of PiZ subjects
-
Gadek JE, Klein HG, Holland, PV, Crystal RG. Replacement therapy of alpha 1-antitrypsin deficiency. Reversal of protease-antiprotease imbalance within the alveolar structures of PiZ subjects. J Clin Invest. 1981;68(5):1158-1165.
-
(1981)
J Clin Invest
, vol.68
, Issue.5
, pp. 1158-1165
-
-
Gadek, J.E.1
Klein, H.G.2
Holland, P.V.3
Crystal, R.G.4
-
22
-
-
77955487511
-
Intravenous alpha-1 antitrypsin augmentation therapy for treating patients with alpha-1 antitrypsin deficiency and lung disease
-
Gøtzsche PC, Johansen HK. Intravenous alpha-1 antitrypsin augmentation therapy for treating patients with alpha-1 antitrypsin deficiency and lung disease. Cochrane Database Syst Rev. 2010;7: CD007851.
-
(2010)
Cochrane Database Syst Rev
, vol.7
-
-
Gøtzsche, P.C.1
Johansen, H.K.2
-
23
-
-
0029048542
-
1-antitrypsin causes a protein folding defect
-
1-antitrypsin causes a protein folding defect. Nat Struct Biol. 1995;2(5):363-367.
-
(1995)
Nat Struct Biol
, vol.2
, Issue.5
, pp. 363-367
-
-
Yu, M.-H.1
Lee, K.N.2
Kim, J.3
-
26
-
-
69249104575
-
Endoplasmic reticulum-associated degradation (ERAD) and autophagy cooperate to degrade polymerogenic mutant serpins
-
Kroeger H, Miranda E, MacLeod I, et al. Endoplasmic reticulum-associated degradation (ERAD) and autophagy cooperate to degrade polymerogenic mutant serpins. J Biol Chem. 2009;284(34):22793-22802.
-
(2009)
J Biol Chem
, vol.284
, Issue.34
, pp. 22793-22802
-
-
Kroeger, H.1
Miranda, E.2
Macleod, I.3
-
27
-
-
0029788023
-
1-antitrypsin Z, in the endoplasmic reticulum requires proteasome activity
-
1-antitrypsin Z, in the endoplasmic reticulum requires proteasome activity. J Biol Chem. 1996;271(37):22791-22795.
-
(1996)
J Biol Chem
, vol.271
, Issue.37
, pp. 22791-22795
-
-
Qu, D.1
Teckman, J.H.2
Omura, S.3
Perlmutter, D.H.4
-
28
-
-
0026570248
-
Soluble aggregates of the human PiZ á1-antitrypsin variant are degraded within the endoplasmic reticulum by a mechanism sensitive to inhibitors of protein synthesis
-
Le A, Ferrell GA, Dishon DS, Le QQ, Sifer RN. Soluble aggregates of the human PiZ á1-antitrypsin variant are degraded within the endoplasmic reticulum by a mechanism sensitive to inhibitors of protein synthesis. J Biol Chem. 1992;267(2):1072-1080.
-
(1992)
J Biol Chem
, vol.267
, Issue.2
, pp. 1072-1080
-
-
Le, A.1
Ferrell, G.A.2
Dishon, D.S.3
Le, Q.Q.4
Sifer, R.N.5
-
29
-
-
0034602778
-
Inactive conformation of the serpin alpha(1)-antichymotrypsin indicates two-stage insertion of the reactive loop: Implications for inhibitory function and conformational disease
-
Gooptu B, Hazes B, Chang WS, et al. Inactive conformation of the serpin alpha(1)-antichymotrypsin indicates two-stage insertion of the reactive loop: implications for inhibitory function and conformational disease. Proc Natl Acad Sci U S A. 2000;97(1):67-72.
-
(2000)
Proc Natl Acad Sci U S A
, vol.97
, Issue.1
, pp. 67-72
-
-
Gooptu, B.1
Hazes, B.2
Chang, W.S.3
-
30
-
-
19944430698
-
1-antitrypsin co-localize with neutrophils in emphysematous alveoli and are chemo-tactic in vivo
-
1-antitrypsin co-localize with neutrophils in emphysematous alveoli and are chemo-tactic in vivo. Am J Path. 2005;166(2):377-386.
-
(2005)
Am J Path
, vol.166
, Issue.2
, pp. 377-386
-
-
Mahadeva, R.1
Atkinson, C.2
Li, Z.3
-
31
-
-
67651091349
-
New findings in PiZZ alpha1-antitrypsin deficiency-related panniculitis. Demonstration of skin polymers and high dosing requirements of intravenous augmentation therapy
-
Gross B, Grebe M, Wencker M, Stoller JK, Bjursten LM, Janciauskiene S. New findings in PiZZ alpha1-antitrypsin deficiency-related panniculitis. Demonstration of skin polymers and high dosing requirements of intravenous augmentation therapy. Dermatology. 2009;218(4):370-375.
-
(2009)
Dermatology
, vol.218
, Issue.4
, pp. 370-375
-
-
Gross, B.1
Grebe, M.2
Wencker, M.3
Stoller, J.K.4
Bjursten, L.M.5
Janciauskiene, S.6
-
33
-
-
34250899722
-
Signal integration in the endoplasmic reticulum unfolded protein response
-
Ron D, Walter P. Signal integration in the endoplasmic reticulum unfolded protein response. Nat Rev Mol Cell Biol. 2007;8(7):519-529.
-
(2007)
Nat Rev Mol Cell Biol
, vol.8
, Issue.7
, pp. 519-529
-
-
Ron, D.1
Walter, P.2
-
34
-
-
0030053047
-
Activation of transcription factor NF-kappaB by the adenvirus E3/19 K protein requires its ER retention
-
Pahl HL, Sester M, Burgert HG, Baeuerle PA. Activation of transcription factor NF-kappaB by the adenvirus E3/19 K protein requires its ER retention. J Cell Biol. 1996;132(4):511-522.
-
(1996)
J Cell Biol
, vol.132
, Issue.4
, pp. 511-522
-
-
Pahl, H.L.1
Sester, M.2
Burgert, H.G.3
Baeuerle, P.A.4
-
35
-
-
0025258970
-
1-antitrypsin within the hepatic endoplasmic reticulum does not elevate the steady-state level of grp78/BiP
-
1-antitrypsin within the hepatic endoplasmic reticulum does not elevate the steady-state level of grp78/BiP. J Biol Chem. 1990; 265(33):20463-20468.
-
(1990)
J Biol Chem
, vol.265
, Issue.33
, pp. 20463-20468
-
-
Graham, K.S.1
Le, A.2
Sifers, R.N.3
-
36
-
-
28244499949
-
1-antitrypsin Z in the endoplasmic reticulum activates caspases-4 and-12, NF-κB, and BAP31 but not the unfolded protein response
-
1-antitrypsin Z in the endoplasmic reticulum activates caspases-4 and-12, NF-κB, and BAP31 but not the unfolded protein response. J Biol Chem. 2005;280(47):39002-39015.
-
(2005)
J Biol Chem
, vol.280
, Issue.47
, pp. 39002-39015
-
-
Hidvegi, T.1
Schmidt, B.Z.2
Hale, P.3
Perlmutter, D.H.4
-
37
-
-
67650526104
-
Neuroserpin polymers activate NF-kappaB by a calcium signalling pathway that is independent of the unfolded protein response
-
Davies MJ, Miranda E, Roussel BD, Kaufman RJ, Marciniak SJ, Lomas DA. Neuroserpin polymers activate NF-kappaB by a calcium signalling pathway that is independent of the unfolded protein response. J Biol Chem. 2009;284(27):18202-18209.
-
(2009)
J Biol Chem
, vol.284
, Issue.27
, pp. 18202-18209
-
-
Davies, M.J.1
Miranda, E.2
Roussel, B.D.3
Kaufman, R.J.4
Marciniak, S.J.5
Lomas, D.A.6
-
39
-
-
1842532017
-
Analyses of hepatocellular proliferation in a mouse model of α-1-antitrypsin deficiency
-
Rudnick DA, Liao Y, An JK, Muglia LJ, Perlmutter DH, Teckman JH. Analyses of hepatocellular proliferation in a mouse model of α-1-antitrypsin deficiency. Hepatology. 2004;39(4):1048-1055.
-
(2004)
Hepatology
, vol.39
, Issue.4
, pp. 1048-1055
-
-
Rudnick, D.A.1
Liao, Y.2
An, J.K.3
Muglia, L.J.4
Perlmutter, D.H.5
Teckman, J.H.6
-
40
-
-
0017099344
-
Liver disease in alpha1-antitrypsin deficiency detected by screening of 200,000 infants
-
Sveger T. Liver disease in alpha1-antitrypsin deficiency detected by screening of 200,000 infants. N Engl J Med. 1976;294(24):1316-1321.
-
(1976)
N Engl J Med
, vol.294
, Issue.24
, pp. 1316-1321
-
-
Sveger, T.1
-
41
-
-
0022637178
-
Risk of cirrhosis and primary liver cancer in alpha1-antitrypsin deficiency
-
Eriksson S, Carlson J, Velez R. Risk of cirrhosis and primary liver cancer in alpha1-antitrypsin deficiency. N Engl J Med. 1986;314(12):736-739.
-
(1986)
N Engl J Med
, vol.314
, Issue.12
, pp. 736-739
-
-
Eriksson, S.1
Carlson, J.2
Velez, R.3
-
42
-
-
29144523100
-
High prevalence of alpha 1 antitrypsin phenotypes in viral hepatitis B infected patients in Iran
-
Hashemi M, Alavian SM, Ghavami S, et al. High prevalence of alpha 1 antitrypsin phenotypes in viral hepatitis B infected patients in Iran. Hepatol Res. 2005;33(4):292-297.
-
(2005)
Hepatol Res
, vol.33
, Issue.4
, pp. 292-297
-
-
Hashemi, M.1
Alavian, S.M.2
Ghavami, S.3
-
43
-
-
0141706635
-
American Thoracic Society/European Respiratory Society statement: Standards for the diagnosis and management of individuals with alpha-1 antitrypsin deficiency
-
American Thoracic Society, European Respiratory Society
-
American Thoracic Society, European Respiratory Society. American Thoracic Society/European Respiratory Society statement: standards for the diagnosis and management of individuals with alpha-1 antitrypsin deficiency. Am J Respir Crit Care Med. 2003;168(7):818-900.
-
(2003)
Am J Respir Crit Care Med
, vol.168
, Issue.7
, pp. 818-900
-
-
-
44
-
-
16844379095
-
Factors associated with advanced liver disease in adults with alpha-1-antitrypsin deficiency
-
Bowlus CL, Willner I, Zern MA, et al. Factors associated with advanced liver disease in adults with alpha-1-antitrypsin deficiency. Clin Gastroenterol Hepatol. 2005;3(4):390-396.
-
(2005)
Clin Gastroenterol Hepatol
, vol.3
, Issue.4
, pp. 390-396
-
-
Bowlus, C.L.1
Willner, I.2
Zern, M.A.3
-
45
-
-
45449084422
-
Alpha-1-antitrpysin deficiency: Outcomes after liver transplantation
-
Kemmer N, Kaiser T, Zacharias V, Neff GW. Alpha-1-antitrpysin deficiency: outcomes after liver transplantation. Transplant Proc. 2008; 40(5):1492-1494.
-
(2008)
Transplant Proc
, vol.40
, Issue.5
, pp. 1492-1494
-
-
Kemmer, N.1
Kaiser, T.2
Zacharias, V.3
Neff, G.W.4
-
46
-
-
0031027927
-
Baseline characteristics of enrollees in the National Heart, Lung and Blood Institute Registry of alpha 1-antitrypsin deficiency
-
Alpha 1-Antitrypsin Deficiency Registry Study Group
-
McElvaney NG, Stoller JK, Buist AS, et al. Baseline characteristics of enrollees in the National Heart, Lung and Blood Institute Registry of alpha 1-antitrypsin deficiency. Alpha 1-Antitrypsin Deficiency Registry Study Group. Chest. 1997;111(2):394-403.
-
(1997)
Chest
, vol.111
, Issue.2
, pp. 394-403
-
-
McElvaney, N.G.1
Stoller, J.K.2
Buist, A.S.3
-
47
-
-
0028543862
-
Physical and social impact of alpha 1-antitrypsin deficiency: Results of a survey
-
Stoller JK, Smith P, Yang P, Spray J. Physical and social impact of alpha 1-antitrypsin deficiency: results of a survey. Cleve Clin J Med. 1994;61(6):461-467.
-
(1994)
Cleve Clin J Med
, vol.61
, Issue.6
, pp. 461-467
-
-
Stoller, J.K.1
Smith, P.2
Yang, P.3
Spray, J.4
-
48
-
-
27144471656
-
Delay in diagnosis of alpha1-antitrypsin deficiency: A continuing problem
-
Stoller JK, Sandhaus RA, Turino G, Dickson R, Rodgers K, Strange C. Delay in diagnosis of alpha1-antitrypsin deficiency: a continuing problem. Chest. 2005;128(4):1989-1994.
-
(2005)
Chest
, vol.128
, Issue.4
, pp. 1989-1994
-
-
Stoller, J.K.1
Sandhaus, R.A.2
Turino, G.3
Dickson, R.4
Rodgers, K.5
Strange, C.6
-
49
-
-
0021960082
-
Smoking, lung function, and alpha 1-antitrypsin deficiency
-
Janus ED, Phillips NT, Carrell RW. Smoking, lung function, and alpha 1-antitrypsin deficiency. Lancet. 1985;1(8421):152-154.
-
(1985)
Lancet
, vol.1
, Issue.8421
, pp. 152-154
-
-
Janus, E.D.1
Phillips, N.T.2
Carrell, R.W.3
-
50
-
-
0035891572
-
Longitudinal changes in physiological, radiological, and health status measurements in alpha(1)-antitrypsin deficiency and factors associated with decline
-
Dowson LJ, Guest PJ, Stockley RA. Longitudinal changes in physiological, radiological, and health status measurements in alpha(1)-antitrypsin deficiency and factors associated with decline. Am J Respir Crit Care Med. 2001;164(10 pt 1):1805-1809.
-
(2001)
Am J Respir Crit Care Med
, vol.164
, Issue.10 PART. 1
, pp. 1805-1809
-
-
Dowson, L.J.1
Guest, P.J.2
Stockley, R.A.3
-
51
-
-
0033836981
-
Occupational exposure risks in individuals with PI*Z alpha(1)-antitrypsin deficiency
-
553-538
-
Mayer AS, Stoller JK, Bucher BB, et al. Occupational exposure risks in individuals with PI*Z alpha(1)-antitrypsin deficiency. Am J Respir Crit Care Med. 2000;162(2 pt 1):553-538.
-
(2000)
Am J Respir Crit Care Med
, vol.162
, Issue.2 PART. 1
-
-
Mayer, A.S.1
Stoller, J.K.2
Bucher, B.B.3
-
52
-
-
0023840570
-
Alpha 1 antitrypsin deficiency due to Pi null: Clinical presentation and evidence for molecular heterogeneity
-
Bamforth FJ, Kalsheker NA. Alpha 1 antitrypsin deficiency due to Pi null: clinical presentation and evidence for molecular heterogeneity. J Med Genet. 1988;25(2):83-87.
-
(1988)
J Med Genet
, vol.25
, Issue.2
, pp. 83-87
-
-
Bamforth, F.J.1
Kalsheker, N.A.2
-
53
-
-
0021361307
-
Measurement of soluble proteins in lung secretions
-
Stockley RA. Measurement of soluble proteins in lung secretions. Thorax. 1984;39(4):241-247.
-
(1984)
Thorax
, vol.39
, Issue.4
, pp. 241-247
-
-
Stockley, R.A.1
-
54
-
-
0032065494
-
Lung polymers in Z α-1-antitrypsin deficiency-related emphysema
-
Elliott PR, Bilton D, Lomas DA. Lung polymers in Z α-1-antitrypsin deficiency-related emphysema. Am J Respir Cell Mol Biol. 1998;18(5):670-674.
-
(1998)
Am J Respir Cell Mol Biol
, vol.18
, Issue.5
, pp. 670-674
-
-
Elliott, P.R.1
Bilton, D.2
Lomas, D.A.3
-
55
-
-
2442488539
-
Z α-1-antitrypsin polymerizes in the lung and acts as a neutrophil chemoattractant
-
Mulgrew AT, Taggart CC, Lawless MW, et al. Z α-1-antitrypsin polymerizes in the lung and acts as a neutrophil chemoattractant. Chest. 2004;125(5):1952-1957.
-
(2004)
Chest
, vol.125
, Issue.5
, pp. 1952-1957
-
-
Mulgrew, A.T.1
Taggart, C.C.2
Lawless, M.W.3
-
56
-
-
84859114529
-
Oxidation of Z{alpha}1-antitrypsin by cigarette smoke induces polymerisation: A novel mechanism of early-onset emphysema
-
Epub ahead of print
-
Alam S, Li Z, Janciauskiene S, Mahadeva R. Oxidation of Z{alpha}1-antitrypsin by cigarette smoke induces polymerisation: a novel mechanism of early-onset emphysema. Am J Respir Cell Mol Biol. 2010. [Epub ahead of print].
-
(2010)
Am J Respir Cell Mol Biol
-
-
Alam, S.1
Li, Z.2
Janciauskiene, S.3
Mahadeva, R.4
-
57
-
-
0036014834
-
Polymers of alpha(1)-antitrypsin are chemotactic for human neutrophils: A new paradigm for the pathogenesis of emphysema
-
Parmar JS, Mahadeva R, Reed BJ, et al. Polymers of alpha(1)-antitrypsin are chemotactic for human neutrophils: a new paradigm for the pathogenesis of emphysema. Am J Respir Cell Mol Biol. 2002;26(6):723-730.
-
(2002)
Am J Respir Cell Mol Biol
, vol.26
, Issue.6
, pp. 723-730
-
-
Parmar, J.S.1
Mahadeva, R.2
Reed, B.J.3
-
58
-
-
0036347640
-
Sputum chemotactic activity in chronic obstructive pulmonary disease: Effect of alpha(1)-antitrypsin deficiency and the role of leukotriene B(4) and interleukin 8
-
Woolhouse IS, Bayley DL, Stockley RA. Sputum chemotactic activity in chronic obstructive pulmonary disease: effect of alpha(1)-antitrypsin deficiency and the role of leukotriene B(4) and interleukin 8. Thorax. 2002;57(8):709-714.
-
(2002)
Thorax
, vol.57
, Issue.8
, pp. 709-714
-
-
Woolhouse, I.S.1
Bayley, D.L.2
Stockley, R.A.3
-
59
-
-
0026229834
-
Neutrophil accumulation in the lung in alpha 1-antitrypsin deficiency. Spontaneous release of leukotriene B4 by alveolar macrophages
-
Hubbard RC, Fells G, Gadek J, Pacholok S, Humes J, Crystal RG. Neutrophil accumulation in the lung in alpha 1-antitrypsin deficiency. Spontaneous release of leukotriene B4 by alveolar macrophages. J Clin Invest. 1991;88(3):891-897.
-
(1991)
J Clin Invest
, vol.88
, Issue.3
, pp. 891-897
-
-
Hubbard, R.C.1
Fells, G.2
Gadek, J.3
Pacholok, S.4
Humes, J.5
Crystal, R.G.6
-
60
-
-
0023546615
-
Z-type alpha 1-antitrypsin is less competent than M1-type alpha-1 antitrypsin as an inhibitor of neutrophil elastase
-
Ogushi F, Fells GA, Hubbard RC, Straus SD, Crystal RG. Z-type alpha 1-antitrypsin is less competent than M1-type alpha-1 antitrypsin as an inhibitor of neutrophil elastase. J Clin Invest. 1987;80(5):1366-1374.
-
(1987)
J Clin Invest
, vol.80
, Issue.5
, pp. 1366-1374
-
-
Ogushi, F.1
Fells, G.A.2
Hubbard, R.C.3
Straus, S.D.4
Crystal, R.G.5
-
61
-
-
0018800894
-
The oxidative inactivation of human alpha-1-proteinase inhibitor. Further evidence for methionine at the reactive center
-
Johnson D, Travis J. The oxidative inactivation of human alpha-1-proteinase inhibitor. Further evidence for methionine at the reactive center. J Biol Chem. 1979;254(10):4022-4026.
-
(1979)
J Biol Chem
, vol.254
, Issue.10
, pp. 4022-4026
-
-
Johnson, D.1
Travis, J.2
-
62
-
-
67651204310
-
Oxidized alpha1-antitrypsin stimulates the release of monocyte chemotactic protein-1 from lung epithelial cells: Potential role in emphysema
-
Li Z, Alam S, Wang J, Sandstrom CS, Janciauskiene S, Mahadeva R. Oxidized alpha1-antitrypsin stimulates the release of monocyte chemotactic protein-1 from lung epithelial cells: potential role in emphysema. Am J Physiol Lung Cell Mol Physiol. 2009;297(2):L388-L400.
-
(2009)
Am J Physiol Lung Cell Mol Physiol
, vol.297
, Issue.2
-
-
Li, Z.1
Alam, S.2
Wang, J.3
Sandstrom, C.S.4
Janciauskiene, S.5
Mahadeva, R.6
-
63
-
-
34248658381
-
Alpha-1 antitrypsin inhibits caspase-3 activity, preventing lung endothelial cell apoptosis
-
Petrache I, Fijalkowska I, Medler TR, et al. Alpha-1 antitrypsin inhibits caspase-3 activity, preventing lung endothelial cell apoptosis. Am J Pathol. 2006;169(4):1155-1166.
-
(2006)
Am J Pathol
, vol.169
, Issue.4
, pp. 1155-1166
-
-
Petrache, I.1
Fijalkowska, I.2
Medler, T.R.3
-
64
-
-
79953858686
-
Efficacy of alpha1-antitrypsin augmentation therapy in conditions other than pulmonary emphysema
-
Blanco I, Lara B, de Serres F. Efficacy of alpha1-antitrypsin augmentation therapy in conditions other than pulmonary emphysema. Orphanet J Rare Dis. 2011;6:14.
-
(2011)
Orphanet J Rare Dis
, vol.6
, pp. 14
-
-
Blanco, I.1
Lara, B.2
de Serres, F.3
-
65
-
-
0030928333
-
The effect of inhaled glucocorticosteroids in emphysema due to alpha1-antitrypsin deficiency
-
Wilcke JT, Dirksen A. The effect of inhaled glucocorticosteroids in emphysema due to alpha1-antitrypsin deficiency. Respir Med. 1997; 91(5):275-279.
-
(1997)
Respir Med
, vol.91
, Issue.5
, pp. 275-279
-
-
Wilcke, J.T.1
Dirksen, A.2
-
66
-
-
46249098198
-
Inhaled corticosteroids as additional treatment in alpha-1-antitrypsin-deficieny-related COPD
-
Corda L, Bertella E, La Piana GE, Boni E, Redolfi S, Tantucci C. Inhaled corticosteroids as additional treatment in alpha-1-antitrypsin-deficieny-related COPD. Respiration. 2008;76(1):61-68.
-
(2008)
Respiration
, vol.76
, Issue.1
, pp. 61-68
-
-
Corda, L.1
Bertella, E.2
la Piana, G.E.3
Boni, E.4
Redolfi, S.5
Tantucci, C.6
-
67
-
-
0038075468
-
A randomized trial comparing lung-volume-reduction surgery with medical therapy for severe emphysema
-
Fishman A, Martinez F, Naunheim, et al. A randomized trial comparing lung-volume-reduction surgery with medical therapy for severe emphysema. N Engl J Med. 2003;348(21):2059-2073.
-
(2003)
N Engl J Med
, vol.348
, Issue.21
, pp. 2059-2073
-
-
Fishman, A.1
Martinez, F.2
Naunheim3
-
68
-
-
39149086117
-
Functional results of unilateral lung volume reduction surgery in alpha1-antitrypsin deficient patients
-
Dauriat G, Mal H, Jebrak G, et al. Functional results of unilateral lung volume reduction surgery in alpha1-antitrypsin deficient patients. Int J Chron Obstruct Pulmon Dis. 2006;1(2):201-206.
-
(2006)
Int J Chron Obstruct Pulmon Dis
, vol.1
, Issue.2
, pp. 201-206
-
-
Dauriat, G.1
Mal, H.2
Jebrak, G.3
-
69
-
-
84859136062
-
Endobronchial valve treatment in patients with advanced emphysema and alpha-1-antitrypsin deficiency
-
Remund KF, Bartosik W, Wood AE, Egan JJ. Endobronchial valve treatment in patients with advanced emphysema and alpha-1-antitrypsin deficiency. Thorax. 2008;63(Suppl VII):A12.
-
(2008)
Thorax
, vol.63
, Issue.SUPPL. VII
-
-
Remund, K.F.1
Bartosik, W.2
Wood, A.E.3
Egan, J.J.4
-
70
-
-
84859117554
-
-
The International Society for Heart and Lung Transplantation. Available at, Accessed March 2
-
The International Society for Heart and Lung Transplantation. Available at: http://www.ishlt.org/registries. Accessed March 2, 2011.
-
(2011)
-
-
-
71
-
-
0023148995
-
Replacement therapy for alpha 1-antitrypsin deficiency associated with emphysema
-
Wewers MD, Casolaro MA, Sellers SE, et al. Replacement therapy for alpha 1-antitrypsin deficiency associated with emphysema. N Engl J Med. 1987;316(17):1055-1062.
-
(1987)
N Engl J Med
, vol.316
, Issue.17
, pp. 1055-1062
-
-
Wewers, M.D.1
Casolaro, M.A.2
Sellers, S.E.3
-
72
-
-
79951631719
-
The role of augmentation therapy in alpha-1 antitrypsin deficiency
-
Kueppers F. The role of augmentation therapy in alpha-1 antitrypsin deficiency. Curr Med Res Opin. 2011;27(3):579-588.
-
(2011)
Curr Med Res Opin
, vol.27
, Issue.3
, pp. 579-588
-
-
Kueppers, F.1
-
73
-
-
67649390890
-
Clinical Practice: Alpha1-antitrypsin deficiency
-
Silverman EK, Sandhaus RA. Clinical Practice: alpha1-antitrypsin deficiency. N Engl J Med. 2009;360(26):2749-2757.
-
(2009)
N Engl J Med
, vol.360
, Issue.26
, pp. 2749-2757
-
-
Silverman, E.K.1
Sandhaus, R.A.2
-
74
-
-
0038216603
-
Augmentation therapy with alpha1-antitrypsin: Patterns of use and adverse events
-
Stoller JK, Fallat R, Schluchter MD, et al. Augmentation therapy with alpha1-antitrypsin: patterns of use and adverse events. Chest. 2003; 123(5):1425-1434.
-
(2003)
Chest
, vol.123
, Issue.5
, pp. 1425-1434
-
-
Stoller, J.K.1
Fallat, R.2
Schluchter, M.D.3
-
75
-
-
0023925114
-
Replacement therapy for alpha-1-protease inhibitor deficiency in PiZ subjects with chronic obstructive disease
-
Schmidt EW, Rasche B, Ulmer WT, et al. Replacement therapy for alpha-1-protease inhibitor deficiency in PiZ subjects with chronic obstructive disease. Am J Med. 1988;84(6A):63-69.
-
(1988)
Am J Med
, vol.84
, Issue.6 A
, pp. 63-69
-
-
Schmidt, E.W.1
Rasche, B.2
Ulmer, W.T.3
-
77
-
-
84859146079
-
-
Accessed August 4
-
Feedback on Cochrane review; see ref 20. Available at: http://onlinelibrary.wiley.com/o/cochrane/clsysrev/articles/CD007851/frame.html. Accessed August 4, 2011.
-
(2011)
-
-
-
78
-
-
0030663669
-
Alpha-1-antitrypsin replacement therapy: Will its efficacy ever be proved?
-
Hutchinson DC, Hughes MD. Alpha-1-antitrypsin replacement therapy: will its efficacy ever be proved? Eur Respir J. 1997;10(10):2191-2193.
-
(1997)
Eur Respir J
, vol.10
, Issue.10
, pp. 2191-2193
-
-
Hutchinson, D.C.1
Hughes, M.D.2
-
80
-
-
0031242842
-
1-antitrypsin deficiency? Wissenschaftliche Arbeitsgemeinschaft zur Therapie von Lungenerkrankungen (WATL) alpha1-AT study group
-
1-antitrypsin deficiency? Wissenschaftliche Arbeitsgemeinschaft zur Therapie von Lungenerkrankungen (WATL) alpha1-AT study group. Eur Respir J. 1997;10(10):2260-2263.
-
(1997)
Eur Respir J
, vol.10
, Issue.10
, pp. 2260-2263
-
-
Seersholm, N.1
Wencker, M.2
Banik, N.3
-
81
-
-
0032110436
-
Survival and FEV1 decline in individuals with severe deficiency of alpha1-antitrypsin
-
The Alpha-1-Antitrypsin Deficiency Registry Study Group
-
The Alpha-1-Antitrypsin Deficiency Registry Study Group. Survival and FEV1 decline in individuals with severe deficiency of alpha1-antitrypsin. Am J Respir Crit Care Med. 1998;158(1):49-59.
-
(1998)
Am J Respir Crit Care Med
, vol.158
, Issue.1
, pp. 49-59
-
-
-
83
-
-
77949329900
-
Alpha-1-antitrypsin augmentation therapy in deficient individuals enrolled in the Alpha-1 Foundation DNA and Tissue Bank
-
Tonelli AR, Rouhani F, Li N, Schreck P, Brantly ML. Alpha-1-antitrypsin augmentation therapy in deficient individuals enrolled in the Alpha-1 Foundation DNA and Tissue Bank. Int J Chron Obstruct Pulmon Dis. 2009;4:443-452.
-
(2009)
Int J Chron Obstruct Pulmon Dis
, vol.4
, pp. 443-452
-
-
Tonelli, A.R.1
Rouhani, F.2
Li, N.3
Schreck, P.4
Brantly, M.L.5
-
85
-
-
0023784904
-
Biochemical efficacy and safety of monthly augmentation therapy for alpha 1-antitrypsin deficiency
-
Hubbard RC, Sellers S, Czerski D, Stephens L, Crystal RG. Biochemical efficacy and safety of monthly augmentation therapy for alpha 1-antitrypsin deficiency. JAMA. 1988;260(9):1259-1264.
-
(1988)
JAMA
, vol.260
, Issue.9
, pp. 1259-1264
-
-
Hubbard, R.C.1
Sellers, S.2
Czerski, D.3
Stephens, L.4
Crystal, R.G.5
-
88
-
-
33847713864
-
Slower lung function decline during augmentation therapy in patients with alpha 1-antitrypsin efficiency (A1ATD): Results from the Canadian AIR registry
-
Chapman KR, Bradi AC, Paterson D, et al. Slower lung function decline during augmentation therapy in patients with alpha 1-antitrypsin efficiency (A1ATD): results from the Canadian AIR registry. Proc Am Thorac Soc. 2005:A808.
-
(2005)
Proc Am Thorac Soc
-
-
Chapman, K.R.1
Bradi, A.C.2
Paterson, D.3
-
89
-
-
70350450961
-
Augmentation therapy for alpha1-antitrypsin deficiency: A meta-analysis
-
Chapman KR, Stockley RA, Dawkins C, et al. Augmentation therapy for alpha1-antitrypsin deficiency: a meta-analysis. COPD. 2009;6(3): 177-184.
-
(2009)
COPD
, vol.6
, Issue.3
, pp. 177-184
-
-
Chapman, K.R.1
Stockley, R.A.2
Dawkins, C.3
-
90
-
-
77957273246
-
Therapeutic efficacy of alpha-1 antitrypsin augmentation therapy on the loss of lung tissue: An integrated analysis of 2 randomised clinical trials using computed tomography densitometry
-
Stockley RA, Parr DG, Piitulainen E, et al. Therapeutic efficacy of alpha-1 antitrypsin augmentation therapy on the loss of lung tissue: an integrated analysis of 2 randomised clinical trials using computed tomography densitometry. Respir Res. 2010;11:136.
-
(2010)
Respir Res
, vol.11
, pp. 136
-
-
Stockley, R.A.1
Parr, D.G.2
Piitulainen, E.3
-
91
-
-
0033739182
-
Augmentation therapy reduces frequency of lung infections in antitrypsin deficiency: A new hypothesis with supporting data
-
Lieberman J. Augmentation therapy reduces frequency of lung infections in antitrypsin deficiency: a new hypothesis with supporting data. Chest. 2000;118(5):1480-1485.
-
(2000)
Chest
, vol.118
, Issue.5
, pp. 1480-1485
-
-
Lieberman, J.1
-
92
-
-
69349090395
-
Exacerbations in subjects with alpha-1 antitrypsin deficiency receiving augmentation therapy
-
Campos MA, Alazemi S, Zhang G, et al. Exacerbations in subjects with alpha-1 antitrypsin deficiency receiving augmentation therapy. Respir Med. 2009;103(10):1532-1539.
-
(2009)
Respir Med
, vol.103
, Issue.10
, pp. 1532-1539
-
-
Campos, M.A.1
Alazemi, S.2
Zhang, G.3
-
95
-
-
0019984864
-
Serum levels of acute phase and cardiac proteins after myocardial infarction, surgery and infection
-
Voulgari F, Cummins P, Gardecki TI, Beeching NJ, Stone PC, Stuart J. Serum levels of acute phase and cardiac proteins after myocardial infarction, surgery and infection. Br Heart J. 1982;48(4):352-356.
-
(1982)
Br Heart J
, vol.48
, Issue.4
, pp. 352-356
-
-
Voulgari, F.1
Cummins, P.2
Gardecki, T.I.3
Beeching, N.J.4
Stone, P.C.5
Stuart, J.6
-
96
-
-
0023229545
-
Hormonal regulation of serum alpha 1-antitrypsin and hepatic alpha 1-antitrypsin mRNA in rats
-
Schwarzenburg SJ, Sharp HL, Berry SA, Manthei RD, Seelig S. Hormonal regulation of serum alpha 1-antitrypsin and hepatic alpha 1-antitrypsin mRNA in rats. Biochem Biophys Res Commun. 1987; 147(3):936-941.
-
(1987)
Biochem Biophys Res Commun
, vol.147
, Issue.3
, pp. 936-941
-
-
Schwarzenburg, S.J.1
Sharp, H.L.2
Berry, S.A.3
Manthei, R.D.4
Seelig, S.5
-
97
-
-
35848929750
-
1-antitrypsin and increase the clearance of intracellular aggregates
-
1-antitrypsin and increase the clearance of intracellular aggregates. J Med Chem. 2007;50(22):5357-5363.
-
(2007)
J Med Chem
, vol.50
, Issue.22
, pp. 5357-5363
-
-
Mallya, M.1
Phillips, R.L.2
Saldanha, S.A.3
-
100
-
-
0032952611
-
Molecular characterization of the defective alpha 1-antitrypsin alleles PI Mwurzburg (Pro369Ser), Mheerlen (Pro369 Leu), and Q0lisbon (Thr68Ile)
-
Poller W, Merklein F, Schneider-Rasp S, et al. Molecular characterization of the defective alpha 1-antitrypsin alleles PI Mwurzburg (Pro369Ser), Mheerlen (Pro369 Leu), and Q0lisbon (Thr68Ile). Eur J Hum Genet. 1999;7(3):321-331.
-
(1999)
Eur J Hum Genet
, vol.7
, Issue.3
, pp. 321-331
-
-
Poller, W.1
Merklein, F.2
Schneider-Rasp, S.3
-
101
-
-
0024404992
-
In-frame single codon deletion in the Mmalton deficiency allele of a1-antitrypsin
-
Fraizer GC, Harrold TR, Hofker MH, Cox DW. In-frame single codon deletion in the Mmalton deficiency allele of a1-antitrypsin. Am J Hum Genet. 1989;44(6):894-902.
-
(1989)
Am J Hum Genet
, vol.44
, Issue.6
, pp. 894-902
-
-
Fraizer, G.C.1
Harrold, T.R.2
Hofker, M.H.3
Cox, D.W.4
-
102
-
-
0025022347
-
Molecular basis of alpha 1-antitrypsin deficiency and emphysema associated with the alpha 1-antitrypsin Mmineral springs allele
-
Curiel DT, Vogelmeier C, Hubbard RC, Stier LE, Crystal RG. Molecular basis of alpha 1-antitrypsin deficiency and emphysema associated with the alpha 1-antitrypsin Mmineral springs allele. Mol Cell Biol. 1990;10(1):47-56.
-
(1990)
Mol Cell Biol
, vol.10
, Issue.1
, pp. 47-56
-
-
Curiel, D.T.1
Vogelmeier, C.2
Hubbard, R.C.3
Stier, L.E.4
Crystal, R.G.5
-
103
-
-
0025344581
-
Molecular analysis of the gene of the alpha 1-antitrypsin deficiency variant, Mnichinan
-
Matsunaga E, Shiokawa S, Nakamura H, Maruyama T, Tsuda K, Fukumaki Y. Molecular analysis of the gene of the alpha 1-antitrypsin deficiency variant, Mnichinan. Am J Hum Gene. 1990;46(3):602-612.
-
(1990)
Am J Hum Gene
, vol.46
, Issue.3
, pp. 602-612
-
-
Matsunaga, E.1
Shiokawa, S.2
Nakamura, H.3
Maruyama, T.4
Tsuda, K.5
Fukumaki, Y.6
-
104
-
-
0028150714
-
Identification and DNA sequence analysis of 15 new alpha-1 antitrypsin variants, including 2 PiQO alleles and one deficient PiM allele
-
Faber J-P, Poller W, Weidinger S, et al. Identification and DNA sequence analysis of 15 new alpha-1 antitrypsin variants, including 2 PiQO alleles and one deficient PiM allele. Am J Hum Genet. 1994; 55(6):1113-1121.
-
(1994)
Am J Hum Genet
, vol.55
, Issue.6
, pp. 1113-1121
-
-
Faber, J.-P.1
Poller, W.2
Weidinger, S.3
-
105
-
-
0023771439
-
Characterization of the gene and protein of the alpha 1-antitrypsin "deficiency" allele Mprocida
-
Takahashi H, Nukiwa T, Satoh K, et al. Characterization of the gene and protein of the alpha 1-antitrypsin "deficiency" allele Mprocida. J Biol Chem. 1988;263(30):15528-15534.
-
(1988)
J Biol Chem
, vol.263
, Issue.30
, pp. 15528-15534
-
-
Takahashi, H.1
Nukiwa, T.2
Satoh, K.3
-
106
-
-
0034095860
-
Characterization of the new alpha-1-antitrypsin-deficient PI M-type allele, PI M(vall d'hebron) (Pro(369)--.Ser)
-
Jardi R, Rodriguez-Frias F, Lopez-Talavera JC, et al. Characterization of the new alpha-1-antitrypsin-deficient PI M-type allele, PI M(vall d'hebron) (Pro(369)--.Ser). Hum Hered. 2000;50(5):320-321.
-
(2000)
Hum Hered
, vol.50
, Issue.5
, pp. 320-321
-
-
Jardi, R.1
Rodriguez-Frias, F.2
Lopez-Talavera, J.C.3
-
107
-
-
0344851808
-
MVarallo: A new M(Like) alpha 1-antitrypsin-deficient allele
-
Coni P, Pili E, Convertino G, et al. MVarallo: a new M(Like) alpha 1-antitrypsin-deficient allele. Diagn Mol Pathol. 2003;12(4):237-239.
-
(2003)
Diagn Mol Pathol
, vol.12
, Issue.4
, pp. 237-239
-
-
Coni, P.1
Pili, E.2
Convertino, G.3
-
108
-
-
0020510606
-
Mutation of antitrypsin to antithrombin. Alpha 1-antitrypsin Pittsburgh (358 Met leads to Arg), a fatal bleeding disorder
-
Owen MC, Brennan SO, Lewis JH, Carrell RW. Mutation of antitrypsin to antithrombin. Alpha 1-antitrypsin Pittsburgh (358 Met leads to Arg), a fatal bleeding disorder. N Engl J Med. 1983;309(12):694-698.
-
(1983)
N Engl J Med
, vol.309
, Issue.12
, pp. 694-698
-
-
Owen, M.C.1
Brennan, S.O.2
Lewis, J.H.3
Carrell, R.W.4
-
109
-
-
0024707223
-
The deficient alpha-I-antitrypsin phenotype PI P is associated with an A-to-T transversion in exon III of the gene
-
Faber JP, Weidinger S, Goedde HW, Ole K. The deficient alpha-I-antitrypsin phenotype PI P is associated with an A-to-T transversion in exon III of the gene. Am J Hum Genet. 1989;45(1):161-163.
-
(1989)
Am J Hum Genet
, vol.45
, Issue.1
, pp. 161-163
-
-
Faber, J.P.1
Weidinger, S.2
Goedde, H.W.3
Ole, K.4
-
110
-
-
0024820821
-
Molecular characterisation of three alpha-1-antitrypsin deficiency variants: Proteinase inhibitor (Pi) nullcardiff (Asp256----Val); PiMmalton (Phe51----deletion) and PiI (Arg39----Cys)
-
Graham A, Kalsheker NA, Newton CR, Bamforth FJ, Powell SJ, Markham AF. Molecular characterisation of three alpha-1-antitrypsin deficiency variants: proteinase inhibitor (Pi) nullcardiff (Asp256----Val); PiMmalton (Phe51----deletion) and PiI (Arg39----Cys). Hum Genet. 1989;84(1):55-58.
-
(1989)
Hum Genet
, vol.84
, Issue.1
, pp. 55-58
-
-
Graham, A.1
Kalsheker, N.A.2
Newton, C.R.3
Bamforth, F.J.4
Powell, S.J.5
Markham, A.F.6
-
111
-
-
0027325825
-
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. Genetic diversity from a limited repertoire of mutations on different common allelic backgrounds: alpha 1-antitrypsin deficiency variant Pduarte. Hum Mutat. 1993;2(3):221-228.
-
(1993)
Hum Mutat
, vol.2
, Issue.3
, pp. 221-228
-
-
Hildesheim, J.1
Kinsley, G.2
Bissell, M.3
Pierce, J.4
Brantly, M.5
-
112
-
-
0024558042
-
Alpha-1-antitrypsin protease inhibitor SZ phenotype and liver cirrhosis
-
Coli A, Bigotti G. Alpha-1-antitrypsin protease inhibitor SZ phenotype and liver cirrhosis. Appl Pathol. 1989;7(1):54-60.
-
(1989)
Appl Pathol
, vol.7
, Issue.1
, pp. 54-60
-
-
Coli, A.1
Bigotti, G.2
-
113
-
-
70449434989
-
CT scan appearance, densitometry, and health status in protease inhibitor SZ alpha1-antitrypsin deficiency
-
Holme J, Stockley RA. CT scan appearance, densitometry, and health status in protease inhibitor SZ alpha1-antitrypsin deficiency. Chest. 2009;136(5):1284-1290.
-
(2009)
Chest
, vol.136
, Issue.5
, pp. 1284-1290
-
-
Holme, J.1
Stockley, R.A.2
-
114
-
-
0035544321
-
1-antitrypsin PI S and PI Z frequencies in countries outside Europe: A meta-analysis
-
1-antitrypsin PI S and PI Z frequencies in countries outside Europe: a meta-analysis. Clin Genet. 2001;60(6):431-441.
-
(2001)
Clin Genet
, vol.60
, Issue.6
, pp. 431-441
-
-
Blanco, I.1
Bustillo, E.F.2
Rodriguez, M.C.3
-
115
-
-
0027338101
-
PI*S(iiyama), a deficiency gene of alpha 1-antitrypsin: Evidence for the occurrence in western Japan
-
Yuasa I, Sugimoto Y, Ichinose M, et al. PI*S(iiyama), a deficiency gene of alpha 1-antitrypsin: evidence for the occurrence in western Japan. Jpn J Hum Genet. 1993;38(2):185-191.
-
(1993)
Jpn J Hum Genet
, vol.38
, Issue.2
, pp. 185-191
-
-
Yuasa, I.1
Sugimoto, Y.2
Ichinose, M.3
-
116
-
-
0025144367
-
Alpha 1-antitrypsin Wbethesda: Molecular basis of an unusual alpha 1-antitrypsin deficiency variant
-
Holmes MD, Brantly ML, Fells GA, Crystal RG. Alpha 1-antitrypsin Wbethesda: molecular basis of an unusual alpha 1-antitrypsin deficiency variant. Biochem Biophys Res Commun. 1990;170(3):1013-1020.
-
(1990)
Biochem Biophys Res Commun
, vol.170
, Issue.3
, pp. 1013-1020
-
-
Holmes, M.D.1
Brantly, M.L.2
Fells, G.A.3
Crystal, R.G.4
-
117
-
-
0032222881
-
Identification and molecular characterization of the new alpha-1-antitrypsin deficient allele PI Y barcelona (Asp256--.Val and Pro391--.His). Mutations in brief no.174. Online
-
Jardi R, Rodriguez F, Miravitlles M, et al. Identification and molecular characterization of the new alpha-1-antitrypsin deficient allele PI Y barcelona (Asp256--.Val and Pro391--.His). Mutations in brief no.174. Online. Hum Mutat. 1998;12(3):213.
-
(1998)
Hum Mutat
, vol.12
, Issue.3
, pp. 213
-
-
Jardi, R.1
Rodriguez, F.2
Miravitlles, M.3
-
118
-
-
78349265383
-
1-antitrypsin protease inhibitor MZ heterozygosity is associated with airflow obstruction in two large cohorts
-
1-antitrypsin protease inhibitor MZ heterozygosity is associated with airflow obstruction in two large cohorts. Chest. 2010;138(5):1125-1132.
-
(2010)
Chest
, vol.138
, Issue.5
, pp. 1125-1132
-
-
Sørheim, I.C.1
Bakke, P.2
-
119
-
-
0031682958
-
Increased risk of chronic liver failure in adults with heterozygous alpha1-antitrypsin deficiency
-
Graziadei IW, Joseph JJ, Wiesner RH, Therneau TM, Batts KP, Porayko MK. Increased risk of chronic liver failure in adults with heterozygous alpha1-antitrypsin deficiency. Hepatology. 1998;28(4):1058-1063.
-
(1998)
Hepatology
, vol.28
, Issue.4
, pp. 1058-1063
-
-
Graziadei, I.W.1
Joseph, J.J.2
Wiesner, R.H.3
Therneau, T.M.4
Batts, K.P.5
Porayko, M.K.6
-
120
-
-
0022195417
-
Alpha-1-antitrypsin: Evidence for a fifth PI M subtype and a new deficiency allele PI*Z augsburg
-
Weidinger S, Jahn W, Cujnik F, Schwarzfischer F. Alpha-1-antitrypsin: evidence for a fifth PI M subtype and a new deficiency allele PI*Z augsburg. Hum Genet. 1985;71(1):27-29.
-
(1985)
Hum Genet
, vol.71
, Issue.1
, pp. 27-29
-
-
Weidinger, S.1
Jahn, W.2
Cujnik, F.3
Schwarzfischer, F.4
-
121
-
-
0024388280
-
Genetic studies on a new deficiency gene (PI*Ztun) at the PI locus
-
Whitehouse DB, Abbott CM, Lovegrove JU, et al. Genetic studies on a new deficiency gene (PI*Ztun) at the PI locus. J Med Genet. 1989;26(12):744-749.
-
(1989)
J Med Genet
, vol.26
, Issue.12
, pp. 744-749
-
-
Whitehouse, D.B.1
Abbott, C.M.2
Lovegrove, J.U.3
-
122
-
-
0025153599
-
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. Molecular characterisation of two alpha-1-antitrypsin deficiency variants: proteinase inhibitor (Pi) Null(Newport) (Gly115----Ser) and (Pi) Z Wrexham (Ser-19----Leu). Hum Genet. 1990;85(5):537-540.
-
(1990)
Hum Genet
, vol.85
, Issue.5
, pp. 537-540
-
-
Graham, A.1
Kalsheker, N.A.2
Bamforth, F.J.3
Newton, C.R.4
Markham, A.F.5
-
123
-
-
0023877411
-
Emphysema associated with complete absence of alpha 1-antitrypsin in serum and the homozygous inheritance [corrected] of a stop codon in an alpha 1-antitrypsin-coding exon
-
Satoh K, Nukiwa T, Brantly M, et al. Emphysema associated with complete absence of alpha 1-antitrypsin in serum and the homozygous inheritance [corrected] of a stop codon in an alpha 1-antitrypsin-coding exon. Am J Hum Genet. 1988;42(1):77-83.
-
(1988)
Am J Hum Genet
, vol.42
, Issue.1
, pp. 77-83
-
-
Satoh, K.1
Nukiwa, T.2
Brantly, M.3
-
124
-
-
0024404992
-
In-frame single codon deletion in the Mmalton deficiency allele of alpha 1-antitrypsin
-
Fraizer GC, Harrold TR, Hofker MH, Cox DW. In-frame single codon deletion in the Mmalton deficiency allele of alpha 1-antitrypsin. Am J Hum Genet. 1989;44(6):894-902.
-
(1989)
Am J Hum Genet
, vol.44
, Issue.6
, pp. 894-902
-
-
Fraizer, G.C.1
Harrold, T.R.2
Hofker, M.H.3
Cox, D.W.4
-
125
-
-
19544393372
-
Identification of a novel alpha1-antitrypsin null variant (Q0Cairo)
-
Zorzetto M, Ferrarotti I, Campo I, et al. Identification of a novel alpha1-antitrypsin null variant (Q0Cairo). Diagn Mol Pathol. 2005;14(2):121-124.
-
(2005)
Diagn Mol Pathol
, vol.14
, Issue.2
, pp. 121-124
-
-
Zorzetto, M.1
Ferrarotti, I.2
Campo, I.3
-
126
-
-
0000840983
-
Alpha1-antitrypsin gene mutation hot spot associated with the formation of a retained and degraded null variant
-
Brantly M, Lee JH, Hildesheim J, et al. Alpha1-antitrypsin gene mutation hot spot associated with the formation of a retained and degraded null variant. Am J Respir Cell Mol Biol. 1997;16(3):225-231.
-
(1997)
Am J Respir Cell Mol Biol
, vol.16
, Issue.3
, pp. 225-231
-
-
Brantly, M.1
Lee, J.H.2
Hildesheim, J.3
-
127
-
-
0023645492
-
alpha 1-Antitrypsin nullGranite Falls, a nonexpressing alpha 1-antitrypsin gene associated with a frameshift to stop mutation in a coding exon
-
Nukiwa T, Takahashi H, Brantly M, Courtney M, Crystal RG. alpha 1-Antitrypsin nullGranite Falls, a nonexpressing alpha 1-antitrypsin gene associated with a frameshift to stop mutation in a coding exon. J Biol Chem. 1987;262(25):11999-12004.
-
(1987)
J Biol Chem
, vol.262
, Issue.25
, pp. 11999-12004
-
-
Nukiwa, T.1
Takahashi, H.2
Brantly, M.3
Courtney, M.4
Crystal, R.G.5
-
128
-
-
0023907965
-
A frameshift mutation results in a truncated alpha 1-antitrypsin that is retained within the rough endoplasmic reticulum
-
Sifers RN, Brashears-Macatee S, Kidd VJ, Muensch H, Woo SL. A frameshift mutation results in a truncated alpha 1-antitrypsin that is retained within the rough endoplasmic reticulum. J Biol Chem. 1988; 263(15):7330-7335.
-
(1988)
J Biol Chem
, vol.263
, Issue.15
, pp. 7330-7335
-
-
Sifers, R.N.1
Brashears-Macatee, S.2
Kidd, V.J.3
Muensch, H.4
Woo, S.L.5
-
129
-
-
0025193198
-
Alpha 1-antitrypsin Null (isola di procida): An alpha 1-antitrypsin deficiency allele caused by deletion of all alpha 1-antitrypsin coding exons
-
Takahashi H, Crystal RG. Alpha 1-antitrypsin Null (isola di procida): an alpha 1-antitrypsin deficiency allele caused by deletion of all alpha 1-antitrypsin coding exons. Am J Hum Genet. 1990;47(3):403-413.
-
(1990)
Am J Hum Genet
, vol.47
, Issue.3
, pp. 403-413
-
-
Takahashi, H.1
Crystal, R.G.2
-
130
-
-
0025639019
-
A null deficiency allele of alpha 1-antitrypsin, QOludwigshafen, with altered tertiary structure
-
Frazier GC, Siewertsen MA, Hofker MH, Brubacher MG, Cox DW. A null deficiency allele of alpha 1-antitrypsin, QOludwigshafen, with altered tertiary structure. J Clin Invest. 1990;86(6):1878-1884.
-
(1990)
J Clin Invest
, vol.86
, Issue.6
, pp. 1878-1884
-
-
Frazier, G.C.1
Siewertsen, M.A.2
Hofker, M.H.3
Brubacher, M.G.4
Cox, D.W.5
-
131
-
-
0024577597
-
Alpha-1-antitrypsin deficiency caused by the alpha-1-antitrypsin nullmattawa gene
-
Curiel D, Brantly M, Curiel E, Stier L, Crystal RG. Alpha-1-antitrypsin deficiency caused by the alpha-1-antitrypsin nullmattawa gene. J Clin Invest. 1989;83(4):1144-1152.
-
(1989)
J Clin Invest
, vol.83
, Issue.4
, pp. 1144-1152
-
-
Curiel, D.1
Brantly, M.2
Curiel, E.3
Stier, L.4
Crystal, R.G.5
-
132
-
-
84859131167
-
Severe α-1 antitrypsin deficiency caused by Q0(Ourém) allele: Clinical features, haplotype characterization and history
-
Epub ahead of print
-
Vaz Rodrigues L, Costa F, Marques P, Mendonça C, Rocha J, Seixas S. Severe α-1 antitrypsin deficiency caused by Q0(Ourém) allele: clinical features, haplotype characterization and history. Clin Genet. 2011. [Epub ahead of print].
-
(2011)
Clin Genet
-
-
Vaz Rodrigues, L.1
Costa, F.2
Marques, P.3
Mendonça, C.4
Rocha, J.5
Seixas, S.6
-
133
-
-
0025765720
-
DNA polymorphisms associated with a new alpha 1-antitrypsin PIQ0 variant (PIQ0riedenburg)
-
Poller W, Faber JP, Weidinger S, Olek K. DNA polymorphisms associated with a new alpha 1-antitrypsin PIQ0 variant (PIQ0riedenburg). Hum Genet. 1991;86(5):522-524.
-
(1991)
Hum Genet
, vol.86
, Issue.5
, pp. 522-524
-
-
Poller, W.1
Faber, J.P.2
Weidinger, S.3
Olek, K.4
-
134
-
-
0032051454
-
Alpha-1-antitrypsin nonsense mutation associated with retained truncated protein and reduced mRNA
-
Lee J, Novoradovskaya N, Rundquist B, Rewine J, Saltini C, Brantly M. Alpha-1-antitrypsin nonsense mutation associated with retained truncated protein and reduced mRNA. Mol Genet Metab. 1998;63(4):270-280.
-
(1998)
Mol Genet Metab
, vol.63
, Issue.4
, pp. 270-280
-
-
Lee, J.1
Novoradovskaya, N.2
Rundquist, B.3
Rewine, J.4
Saltini, C.5
Brantly, M.6
-
135
-
-
0027260319
-
Characterization of a human alpha 1-antitrypsin null allele involving aberrant mRNA splicing
-
Laubach VE, Ryan WJ, Brantly M. Characterization of a human alpha 1-antitrypsin null allele involving aberrant mRNA splicing. Hum Mol Genet. 1993;2(7):1001-1005.
-
(1993)
Hum Mol Genet
, vol.2
, Issue.7
, pp. 1001-1005
-
-
Laubach, V.E.1
Ryan, W.J.2
Brantly, M.3
-
136
-
-
20944443625
-
Molecular mousetraps and the serpinopathies
-
Lomas DA, Belorgey D, Mallya M, et al. Molecular mousetraps and the serpinopathies. Biochem Soc Trans. 2005;33(pt 2):321-330.
-
(2005)
Biochem Soc Trans
, vol.33
, Issue.PART 2
, pp. 321-330
-
-
Lomas, D.A.1
Belorgey, D.2
Mallya, M.3
-
137
-
-
0027295822
-
Alpha1-antitrypsin Siiyama (Ser53Phe). Further evidence for intracellular loop-sheet polymerization
-
Lomas DA, Finch JT, Seyama K, Nukiwa T, Carrell RW. Alpha1-antitrypsin Siiyama (Ser53Phe). Further evidence for intracellular loop-sheet polymerization. J Biol Chem. 1993;268(21):15333-15335.
-
(1993)
J Biol Chem
, vol.268
, Issue.21
, pp. 15333-15335
-
-
Lomas, D.A.1
Finch, J.T.2
Seyama, K.3
Nukiwa, T.4
Carrell, R.W.5
|