keyword
MENU ▼
Read by QxMD icon Read
search

Serpina1

keyword
https://www.readbyqxmd.com/read/28808785/conserved-dna-methylation-combined-with-differential-frontal-cortex-and-cerebellar-expression-distinguishes-c9orf72-associated-and-sporadic-als-and-implicates-serpina1-in-disease
#1
Mark T W Ebbert, Christian A Ross, Luc J Pregent, Rebecca J Lank, Cheng Zhang, Rebecca B Katzman, Karen Jansen-West, Yuping Song, Edroaldo Lummertz da Rocha, Carla Palmucci, Pamela Desaro, Amelia E Robertson, Ana M Caputo, Dennis W Dickson, Kevin B Boylan, Rosa Rademakers, Tamas Ordog, Hu Li, Veronique V Belzil
We previously found C9orf72-associated (c9ALS) and sporadic amyotrophic lateral sclerosis (sALS) brain transcriptomes comprise thousands of defects, among which, some are likely key contributors to ALS pathogenesis. We have now generated complementary methylome data and combine these two data sets to perform a comprehensive "multi-omic" analysis to clarify the molecular mechanisms initiating RNA misregulation in ALS. We found that c9ALS and sALS patients have generally distinct but overlapping methylome profiles, and that the c9ALS- and sALS-affected genes and pathways have similar biological functions, indicating conserved pathobiology in disease...
August 14, 2017: Acta Neuropathologica
https://www.readbyqxmd.com/read/28752443/measuring-and-interpreting-serum-aat-concentration
#2
Leslie J Donato, Melissa R Snyder, Dina N Greene
Deficiency of alpha-1 antitrypsin (AAT) is caused by mutations in the SERPINA1 gene that results in low concentrations of AAT in circulation. The low AAT concentration can result in uninhibited neutrophil elastase activity in the lung, leading to pulmonary tissue damage and lung disease. Clinical evaluation for possible AAT deficiency includes two critical components: measuring AAT concentration in serum and identification of AAT deficiency alleles. In this chapter the methods by which AAT concentration can be measured in the clinical laboratory are described...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/28721587/genetically-engineered-cell-lines-for-%C3%AE-1-antitrypsin-expression
#3
Qianqian Ji, Caiping Guo, Chen Xie, Yingdan Wu, Pei Zhang, Hui Li, Yongjun Lu
OBJECTIVES: To establish genetically modified cell lines that can produce functional α1-antitrypsin (AAT), by CRISPR/Cas9-assisted homologous recombination. RESULTS: α1-Antitrypsin deficiency (AATD) is a monogenic heritable disease that often results in lungs and liver damage. Current augmentation therapy is expensive and in short of supply. To develop a safer and more effective therapeutic strategy for AATD, we integrated the AAT gene (SERPINA1, NG_008290.1) into the AAVS1 locus of human cell line HEK293T and assessed the safety and efficacy of CRISPR/Cas9 on producing potential therapeutic cell lines...
July 18, 2017: Biotechnology Letters
https://www.readbyqxmd.com/read/28674519/somatostatin-ires-cre-mice-between-knockout-and-wild-type
#4
Cécile Viollet, Axelle Simon, Virginie Tolle, Alexandra Labarthe, Dominique Grouselle, Yann Loe-Mie, Michel Simonneau, Guillaume Martel, Jacques Epelbaum
The neuropeptide somatostatin (SOM) is widely expressed in rodent brain and somatostatin-IRES-Cre (SOM-cre) mouse strains are increasingly used to unravel the physiology of SOM-containing neurons. However, while knock-in targeting strategy greatly improves Cre-Lox system accuracy, recent reports have shown that genomic insertion of Cre construct per se can markedly affect physiological function. We show that Cre transgene insertion into the 3'UTR of the somatostatin gene leads to the selective and massive depletion of endogenous SOM in all tested brain regions...
2017: Frontiers in Endocrinology
https://www.readbyqxmd.com/read/28668972/a-new-serpina-1-missense-mutation-associated-with-alpha-1-antitrypsin-deficiency-and-bronchiectasis
#5
G E Carpagnano, R Santacroce, G A Palmiotti, A Leccese, E Giuffreda, M Margaglione, M P Foschino Barbaro, S Aliberti, D Lacedonia
Alpha-1-antitrypsin deficiency (AATD) is a genetic condition caused by SERPINA1 mutations, which culminates into lower protease inhibitor activity in the serum and predisposes to emphysema. Clinical manifestations of AATD are often associated to ZZ (p.Glu342Lys) and SZ (p.Glu264Val) genotypes and less frequently to rare deficiency or null alleles in heterozygous and homozygous states. We report a case of a 52-year-old woman with bronchiectasis without other potential causes other than an electrophoresis that showed a decrease of alpha-1 globin band and AAT levels below the normal value (78 mg/dl; v...
July 1, 2017: Lung
https://www.readbyqxmd.com/read/28662995/simplifying-the-human-serum-proteome-for-discriminating-patients-with-bipolar-disorder-of-other-psychiatry-conditions
#6
Jemmyson Romário de Jesus, Rodrigo Moretto Galazzi, Tatiani Brenelli de Lima, Cláudio Eduardo Muller Banzato, Luiz Fernando de Almeida Lima E Silva, Clarissa de Rosalmeida Dantas, Fábio Cézar Gozzo, Marco Aurélio Zezzi Arruda
PURPOSE: An exploratory analysis using proteomic strategies in blood serum of patients with bipolar disorder (BD), and with other psychiatric conditions such as Schizophrenia (SCZ), can provide a better understanding of this disorder, as well as their discrimination based on their proteomic profile. METHODS: The proteomic profile of blood serum samples obtained from patients with BD using lithium or other drugs (N=14), healthy controls, including non-family (HCNF; N=3) and family (HCF; N=9), patients with schizophrenia (SCZ; N=23), and patients using lithium for other psychiatric conditions (OD; N=4) were compared...
June 26, 2017: Clinical Biochemistry
https://www.readbyqxmd.com/read/28565754/identification-of-potential-biomarkers-of-sepsis-using-bioinformatics-analysis
#7
Yu-Xia Yang, Li Li
Sepsis is defined as the systemic inflammatory response to infection and is one of the leading causes of mortality in critically ill patients. The goal of the present study is to elucidate the molecular mechanism of sepsis. Transcription profile data (GSE12624) were downloaded that had a total of 70 samples (36 sepsis samples and 34 non-sepsis samples) from the Gene Expression Omnibus database. Protein-protein interaction network analysis was conducted in order to comprehensively understand the interactions of genes in all samples...
May 2017: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/28558837/long-term-clinical-outcomes-following-treatment-with-alpha-1-proteinase-inhibitor-for-copd-associated-with-alpha-1-antitrypsin-deficiency-a-look-at-the-evidence
#8
REVIEW
Franck F Rahaghi, Marc Miravitlles
Alpha-1 antitrypsin deficiency (AATD) is a common hereditary disorder caused by mutations in the SERPINA1 gene, which encodes alpha-1 antitrypsin (AAT; also known as alpha 1-proteinase inhibitor, A1-PI). An important function of A1-PI in the lung is to inhibit neutrophil elastase, one of various proteolytic enzymes released by activated neutrophils during inflammation. Absence or deficiency of A1-PI leads to an imbalance between elastase and anti-elastase activity, which results in progressive, irreversible destruction of lung tissue, and ultimately the development of chronic obstructive pulmonary disease with early-onset emphysema...
May 30, 2017: Respiratory Research
https://www.readbyqxmd.com/read/28552795/rhukgf-ameliorates-protease-anti-protease-imbalance-in-emphysematous-mice
#9
Sudhir Kotnala, Amit Tyagi, Jai Prakash Muyal
We attempted to elucidate the beneficial role of rHuKGF supplementation in the amelioration of protease/antiprotease imbalance and TGF-β1 signaling pathway leading to alveolar tissue maintenance in elastase induced emphysematous mice. Thirty two male C57BL mice were divided into four groups i.e. control, emphysema, therapy and rHuKGF only and were oropharyngeally instilled with saline/porcine pancreatic elastase/rHuKGF. Subsequently, lungs from mice were collected for histopathology and molecular biology studies...
August 2017: Pulmonary Pharmacology & Therapeutics
https://www.readbyqxmd.com/read/28522940/potential-urine-proteomics-biomarkers-for-primary-nephrotic-syndrome
#10
Young Wook Choi, Yang Gyun Kim, Min-Young Song, Ju-Young Moon, Kyung-Hwan Jeong, Tae-Won Lee, Chun-Gyoo Ihm, Kang-Sik Park, Sang-Ho Lee
BACKGROUND: Nephrotic syndrome (NS) is a nonspecific kidney disorder, commonly caused by minimal change disease (MCD), focal segmental glomerulosclerosis (FSGS), and membranous nephropathy (MN). Here we analyzed urinary protein profiles, aiming to discover disease-specific biomarkers of these three common diseases in NS. METHODS: Sixteen urine samples were collected from patients with biopsy-proven NS and healthy controls. After removal of high-abundance proteins, the urinary protein profile was analyzed by LC-MS/MS to generate a discovery set...
2017: Clinical Proteomics
https://www.readbyqxmd.com/read/28486562/exogenous-alpha-1-antitrypsin-down-regulates-serpina1-expression
#11
Ahmad Karadagi, Helene Johansson, Helen Zemack, Sandeep Salipalli, Lisa-Mari Mörk, Kristina Kannisto, Carl Jorns, Roberto Gramignoli, Stephen Strom, Knut Stokkeland, Bo-Göran Ericzon, Danny Jonigk, Sabina Janciauskiene, Greg Nowak, Ewa C S Ellis
The main goal of the therapy with purified human plasma alpha1-antitrypsin (A1AT) is to increase A1AT levels and to prevent lungs from elastolytic activity in patients with PiZZ (Glu342Lys) A1AT deficiency-related emphysema. Potential hepatic gains of this therapy are unknown. Herein, we investigated the effect of A1AT therapy on SERPINA1 (gene encoding A1AT) expression. The expression of SERPINA1 was determined in A1AT or A1AT plus Oncostatin M (OSM) treated primary human hepatocytes isolated from liver tissues from A1AT deficient patients and control liver tissues...
2017: PloS One
https://www.readbyqxmd.com/read/28387812/gene-based-association-studies-report-genetic-links-for-clinical-subtypes-of-frontotemporal-dementia
#12
Aniket Mishra, Raffaele Ferrari, Peter Heutink, John Hardy, Yolande Pijnenburg, Danielle Posthuma
Genome-wide association studies in frontotemporal dementia showed limited success in identifying associated loci. This is possibly due to small sample size, allelic heterogeneity, small effect sizes of single genetic variants, and the necessity to statistically correct for testing millions of genetic variants. To overcome these issues, we performed gene-based association studies on 3348 clinically identified frontotemporal dementia cases and 9390 controls (discovery, replication and joint-cohort analyses). We report association of APOE and TOMM40 with behavioural variant frontotemporal dementia, and ARHGAP35 and SERPINA1 with progressive non-fluent aphasia...
April 5, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28380308/alpha-1-antitrypsin-pimz-genotype-is-associated-with-chronic-obstructive-pulmonary-disease-in-two-racial-groups
#13
Marilyn G Foreman, Carla Wilson, Dawn L DeMeo, Craig P Hersh, Terri H Beaty, Michael H Cho, John Ziniti, Douglas Curran-Everett, Gerard Criner, John E Hokanson, Mark Brantly, Farshid N Rouhani, Robert A Sandhaus, James D Crapo, Edwin K Silverman
RATIONALE: Alpha-1 antitrypsin deficiency, caused primarily by homozygosity for the Z allele of the SERPINA1 gene, is a well-established genetic cause of chronic obstructive pulmonary disease (COPD). Whether the heterozygous PiMZ genotype for alpha-1 antitrypsin confers increased risk for COPD has been debated. OBJECTIVES: We analyzed 8,271 subjects in the Genetic Epidemiology of COPD (COPDGene) Study, hypothesizing that PiMZ would independently associate with COPD and COPD-related phenotypes...
August 2017: Annals of the American Thoracic Society
https://www.readbyqxmd.com/read/28318799/transcriptome-analysis-of-il-10-stimulated-m2c-macrophages-by-next-generation-sequencing
#14
Emily B Lurier, Donald Dalton, Will Dampier, Pichai Raman, Sina Nassiri, Nicole M Ferraro, Ramakrishan Rajagopalan, Mahdi Sarmady, Kara L Spiller
Alternatively activated "M2" macrophages are believed to function during late stages of wound healing, behaving in an anti-inflammatory manner to mediate the resolution of the pro-inflammatory response caused by "M1" macrophages. However, the differences between two main subtypes of M2 macrophages, namely interleukin-4 (IL-4)-stimulated "M2a" macrophages and IL-10-stimulated "M2c" macrophages, are not well understood. M2a macrophages are characterized by their ability to inhibit inflammation and contribute to the stabilization of angiogenesis...
February 20, 2017: Immunobiology
https://www.readbyqxmd.com/read/28265093/common-coding-variant-in-serpina1-increases-the-risk-for-large-artery-stroke
#15
Rainer Malik, Therese Dau, Maria Gonik, Anirudh Sivakumar, Daniel J Deredge, Evgeniia V Edeleva, Jessica Götzfried, Sander W van der Laan, Gerard Pasterkamp, Nathalie Beaufort, Susana Seixas, Steve Bevan, Lisa F Lincz, Elizabeth G Holliday, Annette I Burgess, Kristiina Rannikmäe, Jens Minnerup, Jennifer Kriebel, Melanie Waldenberger, Martina Müller-Nurasyid, Peter Lichtner, Danish Saleheen, Peter M Rothwell, Christopher Levi, John Attia, Cathie L M Sudlow, Dieter Braun, Hugh S Markus, Patrick L Wintrode, Klaus Berger, Dieter E Jenne, Martin Dichgans
Large artery atherosclerotic stroke (LAS) shows substantial heritability not explained by previous genome-wide association studies. Here, we explore the role of coding variation in LAS by analyzing variants on the HumanExome BeadChip in a total of 3,127 cases and 9,778 controls from Europe, Australia, and South Asia. We report on a nonsynonymous single-nucleotide variant in serpin family A member 1 (SERPINA1) encoding alpha-1 antitrypsin [AAT; p.V213A; P = 5.99E-9, odds ratio (OR) = 1.22] and confirm histone deacetylase 9 (HDAC9) as a major risk gene for LAS with an association in the 3'-UTR (rs2023938; P = 7...
April 4, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28256260/genetics-of-early-onset-parkinson-s-disease-in-finland-exome-sequencing-and-genome-wide-association-study
#16
Ari Siitonen, Michael A Nalls, Dena Hernández, J Raphael Gibbs, Jinhui Ding, Pauli Ylikotila, Connor Edsall, Andrew Singleton, Kari Majamaa
Several genes and risk factors are associated with Parkinson's disease (PD). Although many of the genetic markers belong to a common pathway, a unifying pathogenetic mechanism is yet to be found. Also, missing heritability analyses have estimated that only part of the genetic influence contributing to PD has been found. Here, we carried out whole-exome sequencing (WES) on 438 Finnish patients with early-onset PD. We also reanalyzed previous data from genome-wide association studies (GWAS) on the same cohort...
May 2017: Neurobiology of Aging
https://www.readbyqxmd.com/read/28170284/genetic-association-and-risk-scores-in-a-chronic-obstructive-pulmonary-disease-meta-analysis-of-16-707-subjects
#17
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 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...
July 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
#18
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
#19
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-%C3%AE-1-antitrypsin-z-variant-via-sqstm1-p62-dependent-selective-autophagy
#20
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/α-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...
April 3, 2017: Autophagy
keyword
keyword
24149
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"