keyword
MENU ▼
Read by QxMD icon Read
search

Serpina1

keyword
https://www.readbyqxmd.com/read/28387812/gene-based-association-studies-report-genetic-links-for-clinical-subtypes-of-frontotemporal-dementia
#1
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-pi-mz-genotype-is-associated-with-copd-in-two-racial-groups
#2
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, primarily caused 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 PI MZ genotype for alpha-1 antitrypsin confers increased risk for COPD has been debated. OBJECTIVES: We analyzed 8271 subjects in the COPDGene Study, hypothesizing that PI MZ would independently associate with COPD and COPD-related phenotypes...
April 5, 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
#3
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
#4
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
#5
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-copd-meta-analysis-of-16-707-subjects
#6
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
#7
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
#8
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
#9
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
https://www.readbyqxmd.com/read/28120746/state-of-the-art-testing-for-alpha-1-antitrypsin-deficiency
#10
REVIEW
Friedrich Kueppers, Christopher Sanders
BACKGROUND: Alpha-1 antitrypsin deficiency (AATD) is a genetic condition characterized by low serum levels of the protein alpha-1 antitrypsin. Because there are no unique clinical symptoms that point to a definitive diagnosis of AATD, laboratory testing 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...
March 24, 2017: Allergy and Asthma Proceedings:
https://www.readbyqxmd.com/read/28107454/identification-of-novel-short-c-terminal-transcripts-of-human-serpina1-gene
#11
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
#12
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
#13
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
#14
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-antineutrophil-cytoplasmic-autoantibody-associated-vasculitis
#15
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 causal and biologic mechanisms of antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV). METHODS: A genome-wide association study and subsequent replication study were conducted in a total cohort of 1,986 cases of AAV (patients with granulomatosis with polyangiitis [Wegener's] [GPA] or microscopic polyangiitis [MPA]) and 4,723 healthy controls. Meta-analysis of these data sets and functional annotation of identified risk loci were performed, and candidate disease variants with unknown functional effects were investigated for their 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
#16
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
#17
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
#18
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
#19
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
#20
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
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"