Results 21 to 30 of about 10,821 (196)

Identification and characterisation of eight novel SERPINA1 Null mutations [PDF]

Orphanet Journal of Rare Diseases, 2014
Alpha-1 antitrypsin (AAT) is the most abundant circulating antiprotease and is a member of the serine protease inhibitor (SERPIN) superfamily. The gene encoding AAT is the highly polymorphic SERPINA1 gene, found at 14q32.1. Mutations in the SERPINA1 gene can lead to AAT deficiency (AATD) which is associated with a substantially increased risk of lung ...
Ferrarotti I., Carroll T. P., Ottaviani S., FRA, Annamaria, Brien G. O., Molloy K., Corda L., Medicina D., Curran D. R., McElvaney N. G., Luisetti M.   +10 more
openaire   +4 more sources

Tissue-Derived Extracellular Vesicles Define Diagnostic Biomarkers for Renal Cell Carcinoma. [PDF]

J Extracell Vesicles
Tissue‐derived EVs reveal renal cell carcinoma subtype biomarkers (NDUFA4L2/VEGFA/APOC1). Validated in urinary EVs (AUC 0.92), these markers originate from cancer cells and tumour‐associated macrophages via scRNA‐seq, enabling non‐invasive diagnosis and mechanistic insights into RCC progression.
Wu X, Zhou J, Jiang C, Chen W, Peng Z, Wu T, Ge Y, Du X, Hu C, Wu X, Huang J, Zhang J, Cui X, Xue W, Chen Y, Dong L.   +15 more
europepmc   +2 more sources

Genome-wide and Mendelian randomisation studies of liver MRI yield insights into the pathogenesis of steatohepatitis [PDF]

, 2020
Background A non-invasive method to grade the severity of steatohepatitis and liver fibrosis is magnetic resonance imaging (MRI) based corrected T1 (cT1).
Banerjee, R, Banerjee, R, Bell, J.D., Bell, J.D., Hemingway, H., Hemingway, H., Hingorani, A.D., Hingorani, A.D., Kelly, M., Kelly, M., McGonigle, J., McGonigle, J., Neubauer, S., Neubauer, S., Nicholls, R.C., Nicholls, R.C., Parisinos, C.A., Parisinos, C.A., Patel, R.S., Patel, R.S., Thomas, E.L., Thomas, E.L., Wilman, H., Wilman, H., Yaghootkar, H., Yaghootkar, H.   +25 more
core   +3 more sources

Toll-like receptor signaling pathway triggered by inhibition of serpin A1 stimulates production of inflammatory cytokines by endometrial stromal cells

Frontiers in Endocrinology, 2022
Endometriosis is characterized by the presence of inflamed and fibrotic endometrial tissue outside the uterine cavity. Previously, we found decreased SERPINA1 (alpha-1 antitrypsin) expression in endometriosis-like lesions in a mouse model of ...
Kazuya Kusama, Ayaka Satoyoshi, Mana Azumi, Mikihiro Yoshie, Junya Kojima, Yumi Mizuno, Masanori Ono, Hirotaka Nishi, Takeshi Kajihara, Kazuhiro Tamura   +9 more
doaj   +1 more source

Specific Cerebrospinal Fluid SerpinA1 Isoform Pattern in Alzheimer’s Disease

International Journal of Molecular Sciences, 2022
SerpinA1 (α1-antitrypsin) is a soluble glycoprotein, the cerebrospinal fluid (CSF) isoforms of which showed disease-specific changes in neurodegenerative disorders that are still unexplored in Alz-heimer’s disease (AD). By means of capillary isoelectric focusing immunoassay, we investigated six serpinA1 isoforms in CSF samples of controls (n = 29), AD ...
Lorenzo Barba, Steffen Halbgebauer, Federico Paolini Paoletti, Giovanni Bellomo, Samir Abu-Rumeileh, Petra Steinacker, Federico Massa, Lucilla Parnetti, Markus Otto   +8 more
openaire   +2 more sources

Key inflammatory pathway activations in the MCI stage of Alzheimer's disease [PDF]

, 2019
OBJECTIVE: To determine the key inflammatory pathways that are activated in the peripheral and CNS compartments at the mild cognitive impairment (MCI) stage of Alzheimer's disease (AD).
Bekris, Lynn M., Bena, James, Chance, Mark, Lamb, Bruce T., Leverenz, James B., Maxwell, Sean, Pillai, Jagan A., Rao, Stephen M.   +7 more
core   +2 more sources

Development of a MALDI MS-based platform for early detection of acute kidney injury [PDF]

, 2016
Purpose: Septic acute kidney injury (AKI) is associated with poor outcome. This can partly be attributed to delayed diagnosis and incomplete understanding of the underlying pathophysiology.
Albalat, Albrethsen, Albrethsen, Ali, Amdur, Bagshaw, Basile, Bellomo, Bouchard, Breen, Chawla, Chertow, Coca, Coca, Davidman, Doi, Endre, Gaieski, Garner, Geus, Giebel, Glorieux, Goldstein, Good, Greenwel, Ho, Ishani, Iskander, Kim, Liu, Metzger, Molin, Okada, Schaub, Schrier, Theodorescu, Vanmassenhove, Vincent, Wald, Wan, Wiedemann, Zarjou, Zhao   +42 more
core   +2 more sources

SerpinA1 levels in amyotrophic lateral sclerosis patients: An exploratory study

European Journal of Neurology, 2023
AbstractBackgroundSerpinA1, a serine protease inhibitor, is involved in the modulation of microglial‐mediated inflammation in neurodegenerative diseases. We explored SerpinA1 levels in cerebrospinal fluid (CSF) and serum of amyotrophic lateral sclerosis (ALS) patients to understand its potential role in the pathogenesis of the disease.MethodsSerpinA1 ...
Martinelli, Ilaria, Zucchi, Elisabetta, Simonini, Cecilia, Gianferrari, Giulia, Bedin, Roberta, Biral, Chiara, Ghezzi, Andrea, Fini, Nicola, Carra, Serena, Mandrioli, Jessica   +9 more
openaire   +2 more sources

α1-Antitrypsin deficiency. [PDF]

, 2016
α1-Antitrypsin deficiency (A1ATD) is an inherited disorder caused by mutations in SERPINA1, leading to liver and lung disease. It is not a rare disorder but frequently goes underdiagnosed or misdiagnosed as asthma, chronic obstructive pulmonary disease ...
Brantly, Mark L, Ferrarotti, Ilaria, Greene, Catherine M, Lomas, David A, Marciniak, Stefan J, McElvaney, Noel G, Stoller, James K, Teckman, Jeffrey   +7 more
core   +2 more sources

Genetic diagnosis of α1-antitrypsin deficiency using DNA from buccal swab and serum samples [PDF]

, 2017
Background: α1-Antitrypsin deficiency (AATD) is associated with a high risk of developing lung and liver disease. Despite being one of the most common hereditary disorders worldwide, AATD remains under-diagnosed and prolonged delays in diagnosis are ...
Barrecheguren, Miriam, Belmonte, Irene, Esquinas López, Cristina, Miravitlles Fernández, Marc, Rodriguez-Frias, Francisco, Rodríguez, Esther   +5 more
core   +1 more source