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For: 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: 5.3] [Reference Citation Analysis]
Number Citing Articles
1 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: 0.7] [Reference Citation Analysis]
2 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]
3 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: 3.0] [Reference Citation Analysis]
4 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: 2.0] [Reference Citation Analysis]
5 Laffranchi M, Elliston ELK, Gangemi F, Berardelli R, Lomas DA, Irving JA, Fra A. Characterisation of a type II functionally-deficient variant of alpha-1-antitrypsin discovered in the general population. PLoS One 2019;14:e0206955. [PMID: 30633749 DOI: 10.1371/journal.pone.0206955] [Cited by in Crossref: 8] [Cited by in F6Publishing: 7] [Article Influence: 2.7] [Reference Citation Analysis]
6 Milne S, Sin DD. Biomarkers in Chronic Obstructive Pulmonary Disease: The Gateway to Precision Medicine. Clin Chest Med 2020;41:383-94. [PMID: 32800193 DOI: 10.1016/j.ccm.2020.06.001] [Cited by in Crossref: 6] [Cited by in F6Publishing: 6] [Article Influence: 3.0] [Reference Citation Analysis]
7 Kueppers F. Clinical presentations of four patients with rare Alpha 1 Antitrypsin variants identified in a single US center. Respir Med Case Rep 2021;32:101345. [PMID: 33552892 DOI: 10.1016/j.rmcr.2021.101345] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
8 Gómez-Mariano G, Matamala N, Martínez S, Justo I, Marcacuzco A, Jimenez C, Monzón S, Cuesta I, Garfia C, Martínez MT, Huch M, Pérez de Castro I, Posada M, Janciauskiene S, Martínez-Delgado B. Liver organoids reproduce alpha-1 antitrypsin deficiency-related liver disease. Hepatol Int 2020;14:127-37. [PMID: 31832977 DOI: 10.1007/s12072-019-10007-y] [Cited by in Crossref: 11] [Cited by in F6Publishing: 10] [Article Influence: 3.7] [Reference Citation Analysis]
9 Martínez-Martínez I. Trehalose: is it a potential inhibitor of antithrombin polymerization? Biosci Rep 2019;39:BSR20190567. [PMID: 31147454 DOI: 10.1042/BSR20190567] [Cited by in Crossref: 1] [Article Influence: 0.3] [Reference Citation Analysis]
10 D'Acunto E, Fra A, Visentin C, Manno M, Ricagno S, Galliciotti G, Miranda E. Neuroserpin: structure, function, physiology and pathology. Cell Mol Life Sci 2021;78:6409-30. [PMID: 34405255 DOI: 10.1007/s00018-021-03907-6] [Reference Citation Analysis]
11 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]
12 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]
13 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]
14 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]
15 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]
16 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]
17 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]
18 Trinh HN, Jang SH, Lee C. Functional characterization of a SNP (F51S) found in human alpha 1-antitrypsin. Mol Genet Genomic Med 2019;7:e819. [PMID: 31251477 DOI: 10.1002/mgg3.819] [Cited by in Crossref: 1] [Cited by in F6Publishing: 2] [Article Influence: 0.3] [Reference Citation Analysis]
19 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]