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For: 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: 4.2] [Reference Citation Analysis]
Number Citing Articles
1 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: 17.2] [Reference Citation Analysis]
2 Gupta N, Gaudreault N, Thériault S, Li PZ, Henry C, Kirby M, Maltais F, Tan W, Bourbeau J, Bossé Y; Canadian Respiratory Research Network and the CanCOLD study group. Granularity of SERPINA1 alleles by DNA sequencing in CanCOLD. Eur Respir J 2020;56:2000958. [PMID: 32482783 DOI: 10.1183/13993003.00958-2020] [Cited by in Crossref: 4] [Cited by in F6Publishing: 3] [Article Influence: 2.0] [Reference Citation Analysis]
3 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: 11.8] [Reference Citation Analysis]
4 Bellemare J, Gaudreault N, Valette K, Belmonte I, Nuñez A, Miravitlles M, Maltais F, Bossé Y. The Clinical Utility of Determining the Allelic Background of Mutations Causing Alpha-1 Antitrypsin Deficiency: The Case with the Null Variant Q0(Mattawa)/Q0(Ourém). Chronic Obstr Pulm Dis 2021;8. [PMID: 33150777 DOI: 10.15326/jcopdf.8.1.2020.0168] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
5 Lopes AP, Mineiro MA, Costa F, Gomes J, Santos C, Antunes C, Maia D, Melo R, Canotilho M, Magalhães E, Vicente I, Valente C, Gonçalves BG, Conde B, Guimarães C, Sousa C, Amado J, Brandão ME, Sucena M, Oliveira MJ, Seixas S, Teixeira V, Telo L. Portuguese consensus document for the management of alpha-1-antitrypsin deficiency. Pulmonology 2018;24 Suppl 1:1-21. [PMID: 30473034 DOI: 10.1016/j.pulmoe.2018.09.004] [Cited by in Crossref: 10] [Cited by in F6Publishing: 12] [Article Influence: 3.3] [Reference Citation Analysis]
6 Renoux C, Odou MF, Tosato G, Teoli J, Abbou N, Lombard C, Zerimech F, Porchet N, Chapuis Cellier C, Balduyck M, Joly P. Description of 22 new alpha-1 antitrypsin genetic variants. Orphanet J Rare Dis 2018;13:161. [PMID: 30223862 DOI: 10.1186/s13023-018-0897-0] [Cited by in Crossref: 7] [Cited by in F6Publishing: 6] [Article Influence: 1.8] [Reference Citation Analysis]
7 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]
8 Sandford AJ. Alpha-1 Antitrypsin Mutations: Is One Too Many? Am J Respir Crit Care Med 2020;201:505-6. [PMID: 31810377 DOI: 10.1164/rccm.201911-2209ED] [Reference Citation Analysis]
9 Lechowicz U, Rudzinski S, Jezela-Stanek A, Janciauskiene S, Chorostowska-Wynimko J. Post-Translational Modifications of Circulating Alpha-1-Antitrypsin Protein. Int J Mol Sci 2020;21:E9187. [PMID: 33276468 DOI: 10.3390/ijms21239187] [Cited by in Crossref: 5] [Cited by in F6Publishing: 5] [Article Influence: 2.5] [Reference Citation Analysis]
10 Afonso M, Silva C, Pinho I, Vale A, Fernandes A. A rare mutation on alpha-1 antitrypsin deficit and lung fibrosis: case report. Sarcoidosis Vasc Diffuse Lung Dis 2020;37:e2020019. [PMID: 33597804 DOI: 10.36141/svdld.v37i4.9877] [Reference Citation Analysis]
11 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]
12 Miskoff JA, Khan B, Chaudhri M, Phan H, Carson MP. Identifying Alpha-1 Antitrypsin Deficiency Based on Computed Tomography Evidence of Emphysema. Cureus 2019;11:e3971. [PMID: 30956923 DOI: 10.7759/cureus.3971] [Cited by in Crossref: 1] [Article Influence: 0.3] [Reference Citation Analysis]
13 Sandhaus RA, Strange C, Zanichelli A, Skålvoll K, Koczulla AR, Stockley RA. Improving the Lives of Patients with Alpha-1 Antitrypsin Deficiency. Int J Chron Obstruct Pulmon Dis 2020;15:3313-22. [PMID: 33328731 DOI: 10.2147/COPD.S276773] [Cited by in Crossref: 1] [Cited by in F6Publishing: 2] [Article Influence: 0.5] [Reference Citation Analysis]
14 Cakir M, Sag E, Islek A, Baran M, Tumgor G, Aydogdu S. Liver Involvement in Children with Alpha-1 Antitrypsin Deficiency: A Multicenter Study. Pediatr Gastroenterol Hepatol Nutr 2020;23:146-53. [PMID: 32206627 DOI: 10.5223/pghn.2020.23.2.146] [Cited by in Crossref: 1] [Article Influence: 0.5] [Reference Citation Analysis]
15 Mcnulty MJ, Silberstein DZ, Kuhn BT, Padgett HS, Nandi S, Mcdonald KA, Cross CE. Alpha-1 antitrypsin deficiency and recombinant protein sources with focus on plant sources: Updates, challenges and perspectives. Free Radical Biology and Medicine 2021;163:10-30. [DOI: 10.1016/j.freeradbiomed.2020.11.030] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
16 Hernández-Pérez JM, Ramos-Díaz R, Fumero-García S, Pérez JA. Molecular characterization of PI*Q0la palma , a new alpha-1-antitrypsin null allele that combines two defective genetic variants. Clin Genet 2017;91:927-8. [PMID: 27882547 DOI: 10.1111/cge.12889] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 0.3] [Reference Citation Analysis]
17 Rabekova Z, Frankova S, Jirsa M, Neroldova M, Lunova M, Fabian O, Kveton M, Varys D, Chmelova K, Adamkova V, Hubacek JA, Spicak J, Merta D, Sperl J. Alpha-1 Antitrypsin and Hepatocellular Carcinoma in Liver Cirrhosis: SERPINA1 MZ or MS Genotype Carriage Decreases the Risk. Int J Mol Sci 2021;22:10560. [PMID: 34638908 DOI: 10.3390/ijms221910560] [Reference Citation Analysis]
18 Belmonte I, Barrecheguren M, Esquinas C, Rodríguez E, Miravitlles M, Rodríguez-Frías F. Genetic diagnosis of α1-antitrypsin deficiency using DNA from buccal swab and serum samples. Clin Chem Lab Med 2017;55:1276-83. [PMID: 28107169 DOI: 10.1515/cclm-2016-0842] [Cited by in Crossref: 5] [Cited by in F6Publishing: 3] [Article Influence: 1.0] [Reference Citation Analysis]
19 Meira L, Boaventura R, Seixas S, Sucena M. Alpha-1 Antitrypsin Deficiency Detection in a Portuguese Population. COPD 2018;15:4-9. [PMID: 29393705 DOI: 10.1080/15412555.2017.1414779] [Cited by in Crossref: 9] [Cited by in F6Publishing: 7] [Article Influence: 2.3] [Reference Citation Analysis]
20 Chorostowska-Wynimko J, Barrecheguren M, Ferrarotti I, Greulich T, Sandhaus RA, Campos M. New Patient-Centric Approaches to the Management of Alpha-1 Antitrypsin Deficiency. Int J Chron Obstruct Pulmon Dis 2020;15:345-55. [PMID: 32103933 DOI: 10.2147/COPD.S234646] [Cited by in Crossref: 5] [Cited by in F6Publishing: 2] [Article Influence: 2.5] [Reference Citation Analysis]
21 Kueppers F, Andrake MD, Xu Q, Dunbrack RL Jr, Kim J, Sanders CL. Protein modeling to assess the pathogenicity of rare variants of SERPINA1 in patients suspected of having Alpha 1 Antitrypsin Deficiency. BMC Med Genet 2019;20:125. [PMID: 31307431 DOI: 10.1186/s12881-019-0852-5] [Cited by in Crossref: 3] [Cited by in F6Publishing: 4] [Article Influence: 1.0] [Reference Citation Analysis]
22 Sucena M, Gomes J, Guimarães C, Miravitlles M. Implementation of European Alpha-1 Research Collaboration (EARCO) in Portugal: the future starts now. Pulmonology 2020;26:181-3. [DOI: 10.1016/j.pulmoe.2020.01.003] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.5] [Reference Citation Analysis]
23 Peng F, Zhong L, Zhang B, Zou R, Nie S, Tian X, Deng S, He X. Successful application of next-generation sequencing for pre-natal diagnosis in a pedigree with chronic granulomatosis disease. Exp Ther Med 2019;17:2931-6. [PMID: 30936962 DOI: 10.3892/etm.2019.7318] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 0.7] [Reference Citation Analysis]
24 Sousa CS, Teixeira V, Pereira V, Pinheiro RB, Seixas S, Martins N. A rare case of pulmonary disease combining alpha-1-antitrypsin deficiency and common variable immunodeficiency. Pulmonology 2020;26:406-9. [PMID: 32518030 DOI: 10.1016/j.pulmoe.2020.04.016] [Reference Citation Analysis]
25 Peppers BP, Zacharias J, Michaud CR, Frith JA, Varma P, Henning M, Quinn LM, Tcheurekdjian H, Craig T, Hostoffer RW. Association between α1-antitrypsin and bronchiectasis in patients with humoral immunodeficiency receiving gammaglobulin infusions. Ann Allergy Asthma Immunol 2018;120:200-6. [PMID: 29413345 DOI: 10.1016/j.anai.2017.11.014] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 0.7] [Reference Citation Analysis]
26 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]
27 Ronzoni R, Ferrarotti I, D'Acunto E, Balderacchi AM, Ottaviani S, Lomas DA, Irving JA, Miranda E, Fra A. The Importance of N186 in the Alpha-1-Antitrypsin Shutter Region Is Revealed by the Novel Bologna Deficiency Variant. Int J Mol Sci 2021;22:5668. [PMID: 34073489 DOI: 10.3390/ijms22115668] [Reference Citation Analysis]
28 Balderacchi AM, Barzon V, Ottaviani S, Corino A, Zorzetto M, Wencker M, Corsico AG, Ferrarotti I. Comparison of different algorithms in laboratory diagnosis of alpha1-antitrypsin deficiency. Clin Chem Lab Med 2021;59:1384-91. [PMID: 33675199 DOI: 10.1515/cclm-2020-1881] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
29 Ghosh AJ, Hobbs BD. Recent advancements in understanding the genetic involvement of alpha-1 antitrypsin deficiency associated lung disease: a look at future precision medicine approaches. Expert Rev Respir Med 2022;:1-10. [PMID: 35025710 DOI: 10.1080/17476348.2022.2027755] [Reference Citation Analysis]
30 Bidla G, Rosenblatt DS, Gilfix BM. Identification of Variants in Alpha-1-Antitrypsin by High Resolution Melting. J Appl Lab Med 2021;6:715-28. [PMID: 33331634 DOI: 10.1093/jalm/jfaa191] [Reference Citation Analysis]
31 Matamala N, Lara B, Gomez-Mariano G, Martínez S, Retana D, Fernandez T, Silvestre RA, Belmonte I, Rodriguez-Frias F, Vilar M, Sáez R, Iturbe I, Castillo S, Molina-Molina M, Texido A, Tirado-Conde G, Lopez-Campos JL, Posada M, Blanco I, Janciauskiene S, Martinez-Delgado B. Characterization of Novel Missense Variants of SERPINA1 Gene Causing Alpha-1 Antitrypsin Deficiency. Am J Respir Cell Mol Biol 2018;58:706-16. [PMID: 29232161 DOI: 10.1165/rcmb.2017-0179OC] [Cited by in Crossref: 13] [Cited by in F6Publishing: 10] [Article Influence: 4.3] [Reference Citation Analysis]