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For: Ferrarotti I, Carroll TP, Ottaviani S, Fra AM, O'Brien G, Molloy K, Corda L, Medicina D, Curran DR, McElvaney NG, Luisetti M. Identification and characterisation of eight novel SERPINA1 Null mutations. Orphanet J Rare Dis 2014;9:172. [PMID: 25425243 DOI: 10.1186/s13023-014-0172-y] [Cited by in Crossref: 35] [Cited by in F6Publishing: 28] [Article Influence: 5.0] [Reference Citation Analysis]
Number Citing Articles
1 Corley M, Solem A, Phillips G, Lackey L, Ziehr B, Vincent HA, Mustoe AM, Ramos SBV, Weeks KM, Moorman NJ, Laederach A. An RNA structure-mediated, posttranscriptional model of human α-1-antitrypsin expression. Proc Natl Acad Sci U S A 2017;114:E10244-53. [PMID: 29109288 DOI: 10.1073/pnas.1706539114] [Cited by in Crossref: 25] [Cited by in F6Publishing: 19] [Article Influence: 6.3] [Reference Citation Analysis]
2 Viglio S, Bak EG, Schouten IGM, Iadarola P, Stolk J. Protease-Specific Biomarkers to Analyse Protease Inhibitors for Emphysema Associated with Alpha 1-Antitrypsin Deficiency. An Overview of Current Approaches. Int J Mol Sci 2021;22:1065. [PMID: 33494436 DOI: 10.3390/ijms22031065] [Cited by in F6Publishing: 1] [Reference Citation Analysis]
3 Annunziata A, Ferrarotti I, Coppola A, Lanza M, Imitazione P, Spinelli S, Micco PD, Fiorentino G. Alpha-1 Antitrypsin Screening in a Selected Cohort of Patients Affected by Chronic Pulmonary Diseases in Naples, Italy. J Clin Med 2021;10:1546. [PMID: 33916947 DOI: 10.3390/jcm10081546] [Reference Citation Analysis]
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5 Ferrarotti I, Ottaviani S, De Silvestri A, Corsico AG. Update on α1-antitrypsin deficiency. Breathe (Sheff) 2018;14:e17-24. [PMID: 30131830 DOI: 10.1183/20734735.015018] [Cited by in Crossref: 5] [Cited by in F6Publishing: 4] [Article Influence: 1.7] [Reference Citation Analysis]
6 Reeves EP, O'Dwyer CA, Dunlea DM, Wormald MR, Hawkins P, Alfares M, Kotton DN, Rowe SM, Wilson AA, McElvaney NG. Ataluren, a New Therapeutic for Alpha-1 Antitrypsin-Deficient Individuals with Nonsense Mutations. Am J Respir Crit Care Med 2018;198:1099-102. [PMID: 30011228 DOI: 10.1164/rccm.201802-0338LE] [Cited by in Crossref: 6] [Cited by in F6Publishing: 3] [Article Influence: 3.0] [Reference Citation Analysis]
7 O’brien ME, Pennycooke K, Carroll TP, Shum J, Fee LT, O’connor C, Logan PM, Reeves EP, Mcelvaney NG. The Impact of Smoke Exposure on the Clinical Phenotype of Alpha-1 Antitrypsin Deficiency in Ireland: Exploiting a National Registry to Understand a Rare Disease. COPD: Journal of Chronic Obstructive Pulmonary Disease 2015;12:2-9. [DOI: 10.3109/15412555.2015.1021913] [Cited by in Crossref: 20] [Cited by in F6Publishing: 20] [Article Influence: 3.3] [Reference Citation Analysis]
8 Blanco I, Bueno P, Diego I, Pérez-Holanda S, Casas-Maldonado F, Esquinas C, Miravitlles M. Alpha-1 antitrypsin Pi*Z gene frequency and Pi*ZZ genotype numbers worldwide: an update. Int J Chron Obstruct Pulmon Dis 2017;12:561-9. [PMID: 28243076 DOI: 10.2147/COPD.S125389] [Cited by in Crossref: 59] [Cited by in F6Publishing: 27] [Article Influence: 14.8] [Reference Citation Analysis]
9 Silva D, Oliveira MJ, Guimarães M, Lima R, Gomes S, Seixas S. Alpha-1-antitrypsin (SERPINA1) mutation spectrum: Three novel variants and haplotype characterization of rare deficiency alleles identified in Portugal. Respiratory Medicine 2016;116:8-18. [DOI: 10.1016/j.rmed.2016.05.002] [Cited by in Crossref: 25] [Cited by in F6Publishing: 29] [Article Influence: 5.0] [Reference Citation Analysis]
10 Miravitlles M, Dirksen A, Ferrarotti I, Koblizek V, Lange P, Mahadeva R, Mcelvaney NG, Parr D, Piitulainen E, Roche N, Stolk J, Thabut G, Turner A, Vogelmeier C, Stockley RA. European Respiratory Society statement: diagnosis and treatment of pulmonary disease in α 1 -antitrypsin deficiency. Eur Respir J 2017;50:1700610. [DOI: 10.1183/13993003.00610-2017] [Cited by in Crossref: 123] [Cited by in F6Publishing: 91] [Article Influence: 30.8] [Reference Citation Analysis]
11 Greulich T, Rodríguez-Frias F, Belmonte I, Klemmer A, Vogelmeier CF, Miravitlles M. Real world evaluation of a novel lateral flow assay (AlphaKit® QuickScreen) for the detection of alpha-1-antitrypsin deficiency. Respir Res 2018;19:151. [PMID: 30103740 DOI: 10.1186/s12931-018-0826-8] [Cited by in Crossref: 9] [Cited by in F6Publishing: 8] [Article Influence: 3.0] [Reference Citation Analysis]
12 Hazari YM, Bashir A, Habib M, Bashir S, Habib H, Qasim MA, Shah NN, Haq E, Teckman J, Fazili KM. Alpha-1-antitrypsin deficiency: Genetic variations, clinical manifestations and therapeutic interventions. Mutat Res. 2017;773:14-25. [PMID: 28927525 DOI: 10.1016/j.mrrev.2017.03.001] [Cited by in Crossref: 33] [Cited by in F6Publishing: 29] [Article Influence: 8.3] [Reference Citation Analysis]
13 Fra A, D'Acunto E, Laffranchi M, Miranda E. Cellular Models for the Serpinopathies. Methods Mol Biol 2018;1826:109-21. [PMID: 30194596 DOI: 10.1007/978-1-4939-8645-3_7] [Cited by in Crossref: 5] [Cited by in F6Publishing: 4] [Article Influence: 2.5] [Reference Citation Analysis]
14 Jouhadi Z, Odou MF, Zerimech F, Bousfiha AA, Mikou N, Porchet N, Crepin M, Najib J, Balduyck M. Alpha1 antitrypsin deficiency due to an homozygous PI* Null Q0Cairo mutation: Early onset of pulmonary manifestations and variability of clinical expression. Respir Med Case Rep 2018;24:58-62. [PMID: 29977761 DOI: 10.1016/j.rmcr.2018.04.005] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 0.7] [Reference Citation Analysis]
15 Connolly B, Isaacs C, Cheng L, Asrani KH, Subramanian RR. SERPINA1 mRNA as a Treatment for Alpha-1 Antitrypsin Deficiency. J Nucleic Acids 2018;2018:8247935. [PMID: 30009048 DOI: 10.1155/2018/8247935] [Cited by in Crossref: 13] [Cited by in F6Publishing: 15] [Article Influence: 4.3] [Reference Citation Analysis]
16 Hersh CP. Pharmacogenomics of chronic obstructive pulmonary disease. Expert Rev Respir Med 2019;13:459-70. [PMID: 30925849 DOI: 10.1080/17476348.2019.1601559] [Cited by in Crossref: 2] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
17 Remih K, Amzou S, Strnad P. Alpha1-antitrypsin deficiency: New therapies on the horizon. Curr Opin Pharmacol 2021;59:149-56. [PMID: 34256305 DOI: 10.1016/j.coph.2021.06.001] [Reference Citation Analysis]
18 Foil KE. Variants of SERPINA1 and the increasing complexity of testing for alpha-1 antitrypsin deficiency. Ther Adv Chronic Dis 2021;12_suppl:20406223211015954. [PMID: 34408833 DOI: 10.1177/20406223211015954] [Cited by in F6Publishing: 2] [Reference Citation Analysis]
19 Greene CM, Marciniak SJ, Teckman J, Ferrarotti I, Brantly ML, Lomas DA, Stoller JK, McElvaney NG. α1-Antitrypsin deficiency. Nat Rev Dis Primers 2016;2:16051. [PMID: 27465791 DOI: 10.1038/nrdp.2016.51] [Cited by in Crossref: 103] [Cited by in F6Publishing: 98] [Article Influence: 20.6] [Reference Citation Analysis]
20 Reeves EP, Dunlea DM, McQuillan K, O'Dwyer CA, Carroll TP, Saldova R, Akepati PR, Wormald MR, McElvaney OJ, Shutchaidat V, Henry M, Meleady P, Keenan J, Liberti DC, Kotton DN, Rudd PM, Wilson AA, McElvaney NG. Circulating Truncated Alpha-1 Antitrypsin Glycoprotein in Patient Plasma Retains Anti-Inflammatory Capacity. J Immunol 2019;202:2240-53. [PMID: 30796179 DOI: 10.4049/jimmunol.1801045] [Cited by in Crossref: 6] [Cited by in F6Publishing: 8] [Article Influence: 3.0] [Reference Citation Analysis]
21 Seixas S, Marques PI. Known Mutations at the Cause of Alpha-1 Antitrypsin Deficiency an Updated Overview of SERPINA1 Variation Spectrum. Appl Clin Genet 2021;14:173-94. [PMID: 33790624 DOI: 10.2147/TACG.S257511] [Cited by in Crossref: 1] [Cited by in F6Publishing: 2] [Article Influence: 1.0] [Reference Citation Analysis]
22 Franciosi AN, Carroll TP, McElvaney NG. Pitfalls and caveats in α1-antitrypsin deficiency testing: a guide for clinicians. Lancet Respir Med 2019;7:1059-67. [PMID: 31324540 DOI: 10.1016/S2213-2600(19)30141-9] [Cited by in Crossref: 9] [Cited by in F6Publishing: 2] [Article Influence: 4.5] [Reference Citation Analysis]
23 Giacopuzzi E, Laffranchi M, Berardelli R, Ravasio V, Ferrarotti I, Gooptu B, Borsani G, Fra A. Real-world clinical applicability of pathogenicity predictors assessed on SERPINA1 mutations in alpha-1-antitrypsin deficiency. Human Mutation 2018;39:1203-13. [DOI: 10.1002/humu.23562] [Cited by in Crossref: 21] [Cited by in F6Publishing: 19] [Article Influence: 7.0] [Reference Citation Analysis]
24 Wang C, Zhao P, Sun S, Teckman J, Balch WE. Leveraging Population Genomics for Individualized Correction of the Hallmarks of Alpha-1 Antitrypsin Deficiency. Chronic Obstr Pulm Dis 2020;7:224-46. [PMID: 32726074 DOI: 10.15326/jcopdf.7.3.2019.0167] [Reference Citation Analysis]
25 Ottaviani S, Barzon V, Buxens A, Gorrini M, Larruskain A, El Hamss R, Balderacchi AM, Corsico AG, Ferrarotti I. Molecular diagnosis of alpha1-antitrypsin deficiency: A new method based on Luminex technology. J Clin Lab Anal 2020;34:e23279. [PMID: 32181528 DOI: 10.1002/jcla.23279] [Cited by in Crossref: 4] [Cited by in F6Publishing: 4] [Article Influence: 4.0] [Reference Citation Analysis]
26 Miranda E, Ferrarotti I, Berardelli R, Laffranchi M, Cerea M, Gangemi F, Haq I, Ottaviani S, Lomas DA, Irving JA, Fra A. The pathological Trento variant of alpha-1-antitrypsin (E75V) shows nonclassical behaviour during polymerization. FEBS J 2017;284:2110-26. [PMID: 28504839 DOI: 10.1111/febs.14111] [Cited by in Crossref: 16] [Cited by in F6Publishing: 16] [Article Influence: 4.0] [Reference Citation Analysis]
27 Hersh CP, Campbell EJ, Scott LR, Raby BA. Alpha-1 Antitrypsin Deficiency as an Incidental Finding in Clinical Genetic Testing. Am J Respir Crit Care Med 2019;199:246-8. [PMID: 30359090 DOI: 10.1164/rccm.201809-1679LE] [Cited by in Crossref: 6] [Cited by in F6Publishing: 2] [Article Influence: 3.0] [Reference Citation Analysis]
28 Ferrarotti I, Ottaviani S. Laboratory diagnosis of AATD. In: Strnad P, Brantly ML, Bals R, editors. α 1 -Antitrypsin Deficiency. Sheffield: European Respiratory Society; 2019. pp. 39-51. [DOI: 10.1183/2312508x.10032418] [Cited by in Crossref: 2] [Article Influence: 1.0] [Reference Citation Analysis]