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14,655 results
  • COVID-19's impact on care practice for alpha-1-antitrypsin deficiency patients. [Journal Article]
    BMC Health Serv Res. 2023 Jan 30; 23(1):98.Calle Rubio M, López-Campos JL, … Torres Durán M
  • CONCLUSIONS: The study advances knowledge by highlighting the challenges faced by health professionals and changes in AATD patient management in the context of the COVID-19 pandemic. It also proposes experts' recommendations aimed at ensuring humanized and quality care for people with AATD in the post-pandemic situation. This work could serve as a reference study for physicians on their daily clinical practice with AATD patients and may also provide guidance on the changes to be put in place for the post-pandemic situation.
  • Capturing the conversion of the pathogenic alpha-1-antitrypsin fold by ATF6 enhanced proteostasis. [Journal Article]
    Cell Chem Biol. 2023 Jan 19; 30(1):22-42.e5.Sun S, Wang C, … Balch WE
  • Genetic variation in alpha-1 antitrypsin (AAT) causes AAT deficiency (AATD) through liver aggregation-associated gain-of-toxic pathology and/or insufficient AAT activity in the lung manifesting as chronic obstructive pulmonary disease (COPD). Here, we utilize 71 AATD-associated variants as input through Gaussian process (GP)-based machine learning to study the correction of AAT folding and functi…
  • Alpha-1 antitrypsin expression is upregulated in multidrug-resistant cancer cells. [Journal Article]
    Histochem Cell Biol. 2022 Dec 19 [Online ahead of print]Divac Rankov A, Jovanović Stojanov S, … Ljujić M
  • Identification of the signature molecular profiles involved in therapy resistance is of vital importance in developing new strategies for treatments and disease monitoring. Protein alpha-1 antitrypsin (AAT, encoded by SERPINA1 gene) is an acute-phase protein, and its high expression has been linked with unfavorable clinical outcome in different types of cancer; however, data on its involvement in…
  • Basilar Predominant Emphysema: Thinking beyond Alpha-1-Antitrypsin Deficiency. [Case Reports]
    Case Rep Med. 2022; 2022:9840085.Yeung HM, Gaffaney L
  • Basilar predominant emphysema, or disproportionate emphysematous involvement of the lung bases compared to the apices, is an uncommon radiographic pattern of emphysema traditionally associated with alpha-1-antitrypsin deficiency (AATD). We present a case of a 59-year-old female with 41 pack-year tobacco use, Stage IV COPD with supplemental oxygen, and bibasilar predominant emphysema who successfu…
  • Giant Bullous Emphysema Mimicking Spontaneous Pneumothorax. [Case Reports]
    Cureus. 2022 Nov; 14(11):e31182.Samanta RP, Agarwal S, Sengupta S
  • Emphysema is a progressive and degenerative lung disease that most commonly occurs due to many years of smoking or exposure to smoke and irritants. It is also seen in the congenital absence of the alpha-1-antitrypsin enzyme. Bullous emphysema is an advanced stage of the disease where strictures of the bronchi permit the inspired air to enter the bronchi but close on expiration, causing air retent…
  • New variants of alpha-1-antitrypsin: structural simulations and clinical expression. [Journal Article]
    Respir Res. 2022 Dec 10; 23(1):339.Gonzalez A, Belmonte I, … Esquinas C
  • CONCLUSIONS: The results characterize five variants, four of them previously unknown, of the SERPINA1 gene, which define new alleles contributing to the deficiency of AAT. Rare variants might be more frequent than expected, and therefore, in discordant cases, standardized screening of the S and Z alleles needs complementation with gene sequencing and structural approaches. The utility of computational modelling for providing supporting evidence of the pathogenicity of rare single nucleotide variations is discussed.
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