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https://www.readbyqxmd.com/read/28170284/genetic-association-and-risk-scores-in-a-copd-meta-analysis-of-16-707-subjects
#1
Robert Busch, Brian D Hobbs, Jin Zhou, Peter J Castaldi, Michael J McGeachie, Megan E Hardin, Iwona Hawrylkiewicz, Pawel Sliwinski, Jae-Joon Yim, Woo Jin Kim, Deog K Kim, Alvar Agusti, Barry J Make, James D Crapo, Peter M Calverley, Claudio F Donner, David A Lomas, Emiel F M Wouters, Jørgen Vestbo, Ruth Tal-Singer, Per Bakke, Amund Gulsvik, Augusto A Litonjua, David Sparrow, Peter D Paré, Robert D Levy, Stephen I Rennard, Terri H Beaty, John Hokanson, Edwin K Silverman, Michael H Cho
The heritability of chronic obstructive pulmonary disease (COPD) cannot be fully explained by recognized genetic risk factors identified as achieving genome-wide significance. In addition, the combined contribution of genetic variation to COPD risk has not been fully explored. We sought to determine 1) whether studies of variants from previous studies of COPD or lung function in a larger sample could identify additional associated variants, particularly for severe COPD, and 2) the impact of genetic risk scores on COPD...
February 7, 2017: American Journal of Respiratory Cell and Molecular Biology
https://www.readbyqxmd.com/read/28138235/interactions-between-single-nucleotide-polymorphism-of-serpina1-gene-and-smoking-in-association-with-copd-a-case-control-study
#2
Xiaowei Deng, Cun-Hua Yuan, De Chang
BACKGROUND: SERPINA1 gene has been implicated in the pathogenesis of chronic obstructive pulmonary disease (COPD), while smoking is a known risk factor for COPD. Little is known on the effect of SERPINA1 gene and its interaction with smoking in the Chinese population. In this study, the effect of SERPINA1 gene polymorphisms on COPD risk and its interaction with smoking status has been investigated. METHOD: A total of 120 COPD patients and 481 healthy controls were recruited at The Armed Police Corps Hospital...
2017: International Journal of Chronic Obstructive Pulmonary Disease
https://www.readbyqxmd.com/read/28122020/itraq-based-proteomics-reveals-novel-biomarkers-for-idiopathic-pulmonary-fibrosis
#3
Rui Niu, Ying Liu, Ying Zhang, Yuan Zhang, Hui Wang, Yongbin Wang, Wei Wang, Xiaohui Li
Idiopathic pulmonary fibrosis (IPF) is a gradual lung disease with a survival of less than 5 years post-diagnosis for most patients. Poor molecular description of IPF has led to unsatisfactory interpretation of the pathogenesis of this disease, resulting in the lack of successful treatments. The objective of this study was to discover novel noninvasive biomarkers for the diagnosis of IPF. We employed a coupled isobaric tag for relative and absolute quantitation (iTRAQ)-liquid chromatography-tandem mass spectrometry (LC-MS/MS) approach to examine protein expression in patients with IPF...
2017: PloS One
https://www.readbyqxmd.com/read/28121484/ubiquitin-ligase-syvn1-hrd1-facilitates-degradation-of-the-serpina1-z-variant-alpha-1-antitrypsin-z-variant-via-sqstm1-p62-dependent-selective-autophagy
#4
Lijie Feng, Jin Zhang, Na Zhu, Qian Ding, Xiaojie Zhang, Jishuang Yu, Weimin Qiang, Zhetao Zhang, Yuyang Ma, Dake Huang, Yujun Shen, Shengyun Fang, Yifan Yu, Haiping Wang, Yuxian Shen
SERPINA1/AAT/alpha-1-antitrypsin (serpin family A member 1) deficiency (SERPINA1/ AAT-D) is an autosomal recessive disorder characterized by the retention of misfolded SERPINA1/AAT in the endoplasmic reticulum (ER) of hepatocytes and a significant reduction of serum SERPINA1/AAT level. The Z variant of SERPINA1/AAT, containing a Glu342Lys (E342K) mutation (SERPINA1(E342K)/ATZ), the most common form of SERPINA1/AAT-D, is prone to misfolding and polymerization, which retains it in the ER of hepatocytes and leads to liver injury...
January 25, 2017: Autophagy
https://www.readbyqxmd.com/read/28120746/state-of-the-art-testing-for-alpha-1-antitrypsin-deficiency
#5
F Kueppers, C Sanders
BACKGROUND: Alpha-1 antitrypsin deficiency (AATD) is a genetic condition characterized by low serum levels of the proteinalpha-1 antitrypsin. Because there are no unique clinical symptoms that point to a definitive diagnosis of AATD, laboratorytesting is crucial to differentiate this disease from others. OBJECTIVE: To summarize advances in laboratory techniques used to test for AATD. METHODS: Data were sourced from a nonsystematic literature review of MEDLINE and the author's personal literature collection, and by checking reference lists of sourced articles...
January 24, 2017: Allergy and Asthma Proceedings:
https://www.readbyqxmd.com/read/28107454/identification-of-novel-short-c-terminal-transcripts-of-human-serpina1-gene
#6
Nerea Matamala, Nupur Aggarwal, Paolo Iadarola, Marco Fumagalli, Gema Gomez-Mariano, Beatriz Lara, Maria Teresa Martinez, Isabel Cuesta, Jan Stolk, Sabina Janciauskiene, Beatriz Martinez-Delgado
Human SERPINA1 gene is located on chromosome 14q31-32.3 and is organized into three (IA, IB, and IC) non-coding and four (II, III, IV, V) coding exons. This gene produces α1-antitrypsin (A1AT), a prototypical member of the serpin superfamily of proteins. We demonstrate that human peripheral blood leukocytes express not only a product corresponding to the transcript coding for the full-length A1AT protein but also two short transcripts (ST1C4 and ST1C5) of A1AT. In silico sequence analysis revealed that the last exon of the short transcripts contains an Open Reading Frame (ORF) and thus putatively can produce peptides...
2017: PloS One
https://www.readbyqxmd.com/read/28079198/oligomerization-of-fvflm-peptides-and-their-ability-to-inhibit-beta-amyloid-peptides-aggregation-consideration-as-a-possible-model
#7
M Kouza, A Banerji, A Kolinski, I A Buhimschi, A Kloczkowski
Preeclampsia, a pregnancy-specific disorder, shares typical pathophysiological features with protein misfolding disorders including Alzheimer's disease. Characteristic for preeclampsia is the involvement of multiple proteins of which fragments of SERPINA1 and β-amyloid co-aggregate in urine and placenta of preeclamptic women. To explore the biophysical basis of this interaction, we investigated the multidimensional efficacy of the FVFLM sequence in SERPINA1, as a model inhibitory agent of β-amyloid aggregation...
January 25, 2017: Physical Chemistry Chemical Physics: PCCP
https://www.readbyqxmd.com/read/28073160/activation-of-jnk-pathway-aggravates-proteotoxicity-of-hepatic-mutant-z-alpha1-antitrypsin
#8
Nunzia Pastore, Sergio Attanasio, Barbara Granese, Jeffrey Teckman, Andrew A Wilson, Andrea Ballabio, And Nicola Brunetti-Pierri
Alpha1-antitrypsin deficiency is a genetic disease that can affect both the lung and the liver. The vast majority of patients harbor a mutation in the SERPINA1 gene resulting in a single amino acid substitution that results in an unfolded protein that is prone to polymerization. Therefore, the liver disease is caused by a gain of function mechanism due to accumulation of the mutant Z alpha1-antitrypsin (ATZ) and is a key example of an important disease mechanism induced by protein toxicity. Intracellular retention of ATZ triggers a complex injury cascade including apoptosis and other mechanisms, although several aspects of the disease pathogenesis are still unclear...
January 10, 2017: Hepatology: Official Journal of the American Association for the Study of Liver Diseases
https://www.readbyqxmd.com/read/28053854/identification-of-a-novel-alpha1-antitrypsin-variant
#9
Camille de Seynes, C Ged, H de Verneuil, N Chollet, M Balduyck, C Raherison
Alpha-1-antitrypsin deficiency (A1ATD) is a genetic condition caused by SERPINA1 mutations, which results into decreased protease inhibitor activity in the serum and predisposes to emphysema and/or to liver disease due to accumulation of the abnormal protein in the hepatic cells. In most cases the clinical manifestations of A1ATD are associated with PIZZ (p.Glu366Lys; p.Glu366Lys (p.Glu342Lys; p.Glu342Lys)) or PISZ (p.Glu288Val; p.Glu366Lys (p.Glu264Val; p.Glu342Lys)) genotype, less frequently, deficient or null alleles may be present in compound heterozygous or homozygous A1AT deficient patients...
2017: Respiratory Medicine Case Reports
https://www.readbyqxmd.com/read/28029757/identification-of-functional-and-expression-polymorphisms-associated-with-risk-for-anti-neutrophil-cytoplasmic-autoantibody-associated-vasculitis
#10
Peter A Merkel, Gang Xie, Paul A Monach, Xuemei Ji, Dominic J Ciavatta, Jinyoung Byun, Benjamin D Pinder, Ai Zhao, Jinyi Zhang, Yohannes Tadesse, David Qian, Matthew Weirauch, Rajan Nair, Alex Tsoi, Christian Pagnoux, Simon Carette, Sharon Chung, David Cuthbertson, John C Davis, Paul F Dellaripa, Lindsy Forbess, Ora Gewurz-Singer, Gary S Hoffman, Nader Khalidi, Curry Koening, Carol A Langford, Alfred D Mahr, Carol McAlear, Larry Moreland, E Philip Seo, Ulrich Specks, Robert F Spiera, Antoine Sreih, E William St Clair, John H Stone, Steven R Ytterberg, James T Elder, Jia Qu, Toshiki Ochi, Naoto Hirano, Jeffrey C Edberg, Ronald J Falk, Christopher I Amos, Katherine A Siminovitch
OBJECTIVE: To identify risk alleles relevant to the cause and biology of anti-neutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV). METHODS: We conducted a genome-wide association and subsequent replication study including 1986 cases of AAV [granulomatosis with polyangiitis (GPA) or microscopic polyangiitis (MPA)] and 4723 controls. Meta-analysis of these datasets and functional annotation of identified risk loci were performed and candidate disease variants with unknown functional effects investigated for impact on gene expression and/or protein function...
December 28, 2016: Arthritis & Rheumatology
https://www.readbyqxmd.com/read/27812629/prevalence-of-alpha-1-antitrypsin-deficiency-and-allele-frequency-in-patients-with-copd-in-brazil
#11
Rodrigo Russo, Laura Russo Zillmer, Oliver Augusto Nascimento, Beatriz Manzano, Ivan Teruaki Ivanaga, Leandro Fritscher, Fernando Lundgren, Marc Miravitlles, Heicilainy Del Carlos Gondim, Gildo Santos, Marcela Amorim Alves, Maria Vera Oliveira, Altay Alves Lino de Souza, Maria Penha Uchoa Sales, José Roberto Jardim
Objective: To determine the prevalence of alpha 1-antitrypsin (AAT) deficiency (AATD), as well as allele frequency, in COPD patients in Brazil. Methods: This was a cross-sectional study involving 926 COPD patients 40 years of age or older, from five Brazilian states. All patients underwent determination of AAT levels in dried blood spot (DBS) samples by nephelometry. Those with DBS AAT levels ≤ 2.64 mg/dL underwent determination of serum AAT levels. Those with serum AAT levels of < 113 mg/dL underwent genotyping...
September 2016: Jornal Brasileiro de Pneumologia: Publicaça̋o Oficial da Sociedade Brasileira de Pneumologia e Tisilogia
https://www.readbyqxmd.com/read/27779685/identification-of-potential-biomarkers-and-drugs-for-papillary-thyroid-cancer-based-on-gene-expression-profile-analysis
#12
Ting Qu, Yan-Ping Li, Xiao-Hong Li, Yan Chen
The present study aimed to systematically examine the molecular mechanisms of papillary thyroid cancer (PTC), and identify potential biomarkers and drugs for the treatment of PTC. Two microarray data sets (GSE3467 and GSE3678), containing 16 PTC samples and 16 paired normal samples, were downloaded from the Gene Expression Omnibus database. The differentially expressed genes (DEGs) were identified using the Linear Models for Microarray Analysis package. Subsequently, the common DEGs were screened for functional and pathway enrichment analysis using the Database for Annotation Visualization and Integrated Discovery...
December 2016: Molecular Medicine Reports
https://www.readbyqxmd.com/read/27564674/randomized-placebo-controlled-trials-in-alpha-1-antitrypsin-deficiency
#13
Robert A Sandhaus
Alpha-1 antitrypsin deficiency (AATD) is a condition caused by the inheritance of two mutated SERPINA1 gene alleles. Individuals with AATD are at increased risk of injury to the liver and lungs. The pulmonary manifestations include precocious onset of pulmonary emphysema and bronchiectasis. For nearly three decades, treatment has been available to individuals with emphysema caused by AATD, but this therapy-augmentation of plasma and tissue alpha-1 antitrypsin levels by intravenous administration of human plasma-derived protein-was approved by regulatory authorities based on its biochemical efficacy...
August 2016: Annals of the American Thoracic Society
https://www.readbyqxmd.com/read/27559009/genetics-and-pathophysiology-of-granulomatosis-with-polyangiitis-gpa-and-its-main-autoantigen-proteinase-3
#14
REVIEW
Manfred Relle, Bernd Föhr, Federica Fasola, Andreas Schwarting
Granulomatosis with polyangiitis (GPA) is a severe autoimmune disease and one of the small vessel anti-neutrophil cytoplasmic antibody (ANCA)-associated vasculitides. Although its etiology and pathophysiology are still widely unknown, it is accepted that infections, environmental factors, epigenetic modifications, and a genetic predisposition provide the basis for this systemic disorder. GPA typically evolves into two phases: an initial phase characterized by ear, nose and throat (ENT) manifestations, such as chronic sinusitis and otitis, ulceration of the oral cavity and pharynx, as well as pulmonary nodules and a severe generalized phase, defined by the occurrence of rapidly progressive glomerulonephritis, pulmonary hemorrhage, and arthritis...
December 2016: Molecular and Cellular Probes
https://www.readbyqxmd.com/read/27535962/analysis-of-the-uterine-epithelial-and-conceptus-transcriptome-and-luminal-fluid-proteome-during-the-peri-implantation-period-of-pregnancy-in-sheep
#15
Kelsey Brooks, Gregory W Burns, Joao G N Moraes, Thomas E Spencer
Available studies support the idea that the uterine epithelia and their secretions have important biological roles in conceptus survival, elongation and implantation in sheep. The present study evaluated the transcriptome of the uterine luminal epithelium (LE), glandular epithelium (GE) and conceptus, and proteome of the uterine luminal fluid (ULF) during the peri-implantation period of pregnancy. Transcriptome (RNA-sequencing) analysis was conducted on LE and GE isolated from uteri of Day 10, 12, 14, 16, and 20 pregnant sheep by laser capture microdissection...
August 17, 2016: Biology of Reproduction
https://www.readbyqxmd.com/read/27515817/novel-rna-binding-activity-of-nqo1-promotes-serpina1-mrna-translation
#16
Andrea Di Francesco, Clara Di Germanio, Amaresh C Panda, Phu Huynh, Robert Peaden, Ignacio Navas-Enamorado, Paul Bastian, Elin Lehrmann, Alberto Diaz-Ruiz, David Ross, David Siegel, Jennifer L Martindale, Michel Bernier, Myriam Gorospe, Kotb Abdelmohsen, Rafael de Cabo
NAD(P)H: quinone oxidoreductase (NQO1) is essential for cell defense against reactive oxidative species, cancer, and metabolic stress. Recently, NQO1 was found in ribonucleoprotein (RNP) complexes, but NQO1-interacting mRNAs and the functional impact of such interactions are not known. Here, we used ribonucleoprotein immunoprecipitation (RIP) and microarray analysis to identify comprehensively the subset of NQO1 target mRNAs in human hepatoma HepG2 cells. One of its main targets, SERPINA1 mRNA, encodes the serine protease inhibitor α-1-antitrypsin, A1AT, which is associated with disorders including obesity-related metabolic inflammation, chronic obstructive pulmonary disease (COPD), liver cirrhosis and hepatocellular carcinoma...
October 2016: Free Radical Biology & Medicine
https://www.readbyqxmd.com/read/27512979/human-urinary-epithelial-cells-as-a-source-of-engraftable-hepatocyte-like-cells-using-stem-cell-technology
#17
Vanessa Sauer, Tatyana Tchaikovskaya, Xia Wang, Yanfeng Li, Wei Zhang, Krisztina Tar, Zsuzsanna Polgar, Jianqiang Ding, Chandan Guha, Ira J Fox, Namita Roy-Chowdhury, Jayanta Roy-Chowdhury
Although several types of somatic cells have been reprogrammed into induced pluripotent stem cells (iPSCs) and then differentiated to hepatocyte-like cells (iHeps), the method for generating such cells from renal tubular epithelial cells shed in human urine and transplanting them into animal livers has not been described systematically. We report reprogramming of human urinary epithelial cells into iPSCs and subsequent hepatic differentiation, followed by a detailed characterization of the newly generated iHeps...
December 13, 2016: Cell Transplantation
https://www.readbyqxmd.com/read/27511453/identification-of-proteomic-and-metabolic-signatures-associated-with-chemoresistance-of-human-epithelial-ovarian-cancer
#18
Wenjuan Wu, Qi Wang, Fuqiang Yin, Zhijun Yang, Wei Zhang, Hani Gabra, Li Li
Emerging drug resistance in epithelial ovarian cancer (EOC) thwarted progress in platinum‑based chemotherapy, resulting in increased mortality, morbidity and healthcare costs. The aim of this study was to detect the responses induced by chemotherapy at protein and metabolite levels, and to search for new plasma markers that can predict resistance to platinum‑based chemotherapy in EOC patients, leading to improved clinical response rates. Serum samples were collected and subjected to proteomic relative quantitation analysis and metabolomic analysis...
October 2016: International Journal of Oncology
https://www.readbyqxmd.com/read/27492524/novel-variants-of-serpin1a-gene-interplay-between-alpha1-antitrypsin-deficiency-and-chronic-obstructive-pulmonary-disease
#19
REVIEW
Arif Bashir, Naveed Nazir Shah, Younis Mohammad Hazari, Mudasir Habib, Samirul Bashir, Nazia Hilal, Mariam Banday, Syed Asrafuzzaman, Khalid Majid Fazili
Alpha1-antitrypsin (AAT) is one of the major circulating anti-protease whose levels in circulation are raised during excessive amount of proteases, especially neutrophil elastase (NE) released during the course of inflammation. Proteolytic attack of NE on peripheral organs, more exclusively on lung parenchyma has severe consequence that may precipitate pulmonary emphysema. Normally, human body has its own molecular and physiological mechanisms to synthesize and regulate the production of anti-protease like AAT to mitigate the extent of inflammatory damage...
August 2016: Respiratory Medicine
https://www.readbyqxmd.com/read/27492143/quantitative-proteomic-analysis-exploring-progression-of-colorectal-cancer-modulation-of-the-serpin-family
#20
Julien Peltier, Jean-Pierre Roperch, Stéphane Audebert, Jean-Paul Borg, Luc Camoin
UNLABELLED: Colorectal cancer (CRC) remains a major cause of cancer related-death in developed countries. The mortality risk is correlated with the stage of CRC determined at the primary diagnosis and early diagnosis is associated with enhanced survival rate. Currently, only faecal occult blood tests are used to screen for CRC. Consequently, there is an incentive to identify specific markers of CRC. We used quantitative proteomic analysis of serum samples to characterize protein profiles in adenoma, CRC and healthy control samples...
October 4, 2016: Journal of Proteomics
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