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Journal Abstract Search

308 related items for PubMed ID: 26141700

  • 1. Alternative transcripts of the SERPINA1 gene in alpha-1 antitrypsin deficiency.
    Matamala N, Martínez MT, Lara B, Pérez L, Vázquez I, Jimenez A, Barquín M, Ferrarotti I, Blanco I, Janciauskiene S, Martinez-Delgado B.
    J Transl Med; 2015 Jul 04; 13():211. PubMed ID: 26141700
    [Abstract] [Full Text] [Related]

  • 2. Severe alpha-1 antitrypsin deficiency in composite heterozygotes inheriting a new splicing mutation QOMadrid.
    Lara B, Martínez MT, Blanco I, Hernández-Moro C, Velasco EA, Ferrarotti I, Rodriguez-Frias F, Perez L, Vazquez I, Alonso J, Posada M, Martínez-Delgado B.
    Respir Res; 2014 Oct 07; 15(1):125. PubMed ID: 25287719
    [Abstract] [Full Text] [Related]

  • 3. Identification and characterisation of eight novel SERPINA1 Null mutations.
    Ferrarotti I, Carroll TP, Ottaviani S, Fra AM, O'Brien G, Molloy K, Corda L, Medicina D, Curran DR, McElvaney NG, Luisetti M.
    Orphanet J Rare Dis; 2014 Nov 26; 9():172. PubMed ID: 25425243
    [Abstract] [Full Text] [Related]

  • 4. Alpha-1 antitrypsin Null mutations and severity of emphysema.
    Fregonese L, Stolk J, Frants RR, Veldhuisen B.
    Respir Med; 2008 Jun 26; 102(6):876-84. PubMed ID: 18353624
    [Abstract] [Full Text] [Related]

  • 5. SERPINA1 long transcripts produce non-secretory alpha1-antitrypsin isoform: In vitro translation in living cells.
    Maslakova AA, Golyshev SA, Potashnikova DM, Moisenovich AM, Orlovsky IV, Smirnova OV, Rubtsov MA.
    Int J Biol Macromol; 2023 Jun 30; 241():124433. PubMed ID: 37086761
    [Abstract] [Full Text] [Related]

  • 6. Characterization of Novel Missense Variants of SERPINA1 Gene Causing Alpha-1 Antitrypsin Deficiency.
    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.
    Am J Respir Cell Mol Biol; 2018 Jun 30; 58(6):706-716. PubMed ID: 29232161
    [Abstract] [Full Text] [Related]

  • 7. Identification of a new defective SERPINA1 allele (PI*Zla palma) encoding an alpha-1-antitrypsin with altered glycosylation pattern.
    Hernández-Pérez JM, Ramos-Díaz R, Pérez JA.
    Respir Med; 2017 Oct 30; 131():114-117. PubMed ID: 28947017
    [Abstract] [Full Text] [Related]

  • 8. Towards unveiling the nature of short SERPINA1 transcripts: Avoiding the main ORF control to translate alpha1-antitrypsin C-terminal peptides.
    Maslakova AA, Didych DA, Golyshev SA, Katrukha IA, Viushkov VS, Zamalutdinov AV, Potashnikova DM, Rubtsov MA, Smirnova OV, Orlovsky IV.
    Int J Biol Macromol; 2022 Apr 01; 203():703-717. PubMed ID: 35090941
    [Abstract] [Full Text] [Related]

  • 9. A1ATVar: a relational database of human SERPINA1 gene variants leading to alpha1-antitrypsin deficiency and application of the VariVis software.
    Zaimidou S, van Baal S, Smith TD, Mitropoulos K, Ljujic M, Radojkovic D, Cotton RG, Patrinos GP.
    Hum Mutat; 2009 Mar 01; 30(3):308-13. PubMed ID: 19021233
    [Abstract] [Full Text] [Related]

  • 10. An RNA structure-mediated, posttranscriptional model of human α-1-antitrypsin expression.
    Corley M, Solem A, Phillips G, Lackey L, Ziehr B, Vincent HA, Mustoe AM, Ramos SBV, Weeks KM, Moorman NJ, Laederach A.
    Proc Natl Acad Sci U S A; 2017 Nov 21; 114(47):E10244-E10253. PubMed ID: 29109288
    [Abstract] [Full Text] [Related]

  • 11. Liver organoids reproduce alpha-1 antitrypsin deficiency-related liver disease.
    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.
    Hepatol Int; 2020 Jan 21; 14(1):127-137. PubMed ID: 31832977
    [Abstract] [Full Text] [Related]

  • 12. Protein modeling to assess the pathogenicity of rare variants of SERPINA1 in patients suspected of having Alpha 1 Antitrypsin Deficiency.
    Kueppers F, Andrake MD, Xu Q, Dunbrack RL, Kim J, Sanders CL.
    BMC Med Genet; 2019 Jul 15; 20(1):125. PubMed ID: 31307431
    [Abstract] [Full Text] [Related]

  • 13. New cis-Acting Variants in PI*S Background Produce Null Phenotypes Causing Alpha-1 Antitrypsin Deficiency.
    Matamala N, Gomez-Mariano G, Perez JA, Baladrón B, Torres-Durán M, Michel FJ, Saez R, Hernández-Pérez JM, Belmonte I, Rodriguez-Frias F, Blanco I, Strnad P, Janciauskiene S, Martinez-Delgado B.
    Am J Respir Cell Mol Biol; 2020 Oct 15; 63(4):444-451. PubMed ID: 32515985
    [Abstract] [Full Text] [Related]

  • 14. Alpha-1-antitrypsin (SERPINA1) mutation spectrum: Three novel variants and haplotype characterization of rare deficiency alleles identified in Portugal.
    Silva D, Oliveira MJ, Guimarães M, Lima R, Gomes S, Seixas S.
    Respir Med; 2016 Jul 15; 116():8-18. PubMed ID: 27296815
    [Abstract] [Full Text] [Related]

  • 15. Quantification of circulating alpha-1-antitrypsin polymers associated with different SERPINA1 genotypes.
    Balderacchi AM, Bignotti M, Ottaviani S, Denardo A, Barzon V, Ben Khlifa E, Vailati G, Piloni D, Benini F, Corda L, Corsico AG, Ferrarotti I, Fra A.
    Clin Chem Lab Med; 2024 Sep 25; 62(10):1980-1990. PubMed ID: 38407261
    [Abstract] [Full Text] [Related]

  • 16. Rapid DNA extraction protocol for detection of alpha-1 antitrypsin deficiency from dried blood spots by real-time PCR.
    Struniawski R, Szpechcinski A, Poplawska B, Skronski M, Chorostowska-Wynimko J.
    Adv Exp Med Biol; 2013 Sep 25; 756():29-37. PubMed ID: 22836616
    [Abstract] [Full Text] [Related]

  • 17. Description of 22 new alpha-1 antitrypsin genetic variants.
    Renoux C, Odou MF, Tosato G, Teoli J, Abbou N, Lombard C, Zerimech F, Porchet N, Chapuis Cellier C, Balduyck M, Joly P.
    Orphanet J Rare Dis; 2018 Sep 17; 13(1):161. PubMed ID: 30223862
    [Abstract] [Full Text] [Related]

  • 18. 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; 2012 Sep 17; 7(12):e51762. PubMed ID: 23251618
    [Abstract] [Full Text] [Related]

  • 19. Phenotypes and serum level of alpha-1-antitrypsin in lung cancer.
    Topic A, Ljujic M, Petrovic-Stanojevic N, Dopudja-Pantic V, Radojkovic D.
    J BUON; 2011 Sep 17; 16(4):672-6. PubMed ID: 22331720
    [Abstract] [Full Text] [Related]

  • 20. Evidence for unfolded protein response activation in monocytes from individuals with alpha-1 antitrypsin deficiency.
    Carroll TP, Greene CM, O'Connor CA, Nolan AM, O'Neill SJ, McElvaney NG.
    J Immunol; 2010 Apr 15; 184(8):4538-46. PubMed ID: 20228200
    [Abstract] [Full Text] [Related]

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