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Serpina1

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https://www.readbyqxmd.com/read/29453277/editing-out-five-serpina1-paralogs-to-create-a-mouse-model-of-genetic-emphysema
#1
Florie Borel, Huaming Sun, Marina Zieger, Andrew Cox, Brynn Cardozo, Weiying Li, Gabriella Oliveira, Airiel Davis, Alisha Gruntman, Terence R Flotte, Michael H Brodsky, Andrew M Hoffman, Mai K Elmallah, Christian Mueller
Chronic obstructive pulmonary disease affects 10% of the worldwide population, and the leading genetic cause is α-1 antitrypsin (AAT) deficiency. Due to the complexity of the murine locus, which includes up to six Serpina1 paralogs, no genetic animal model of the disease has been successfully generated until now. Here we create a quintuple Serpina1a-e knockout using CRISPR/Cas9-mediated genome editing. The phenotype recapitulates the human disease phenotype, i.e., absence of hepatic and circulating AAT translates functionally to a reduced capacity to inhibit neutrophil elastase...
February 16, 2018: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29432934/alpha-1-antitrypsin-deficiency-from-the-lung-to-the-heart
#2
Ivan Curjuric, Medea Imboden, Robert Bettschart, Seraina Caviezel, Julia Dratva, Marco Pons, Thomas Rothe, Arno Schmidt-Trucksäss, Daiana Stolz, Gian Andri Thun, Arnold von Eckardstein, Florian Kronenberg, Ilaria Ferrarotti, Nicole M Probst-Hensch
BACKGROUND AND AIMS: Alpha-1 antitrypsin (A1AT) is the most abundant serine protease inhibitor in human blood and exerts important anti-inflammatory and immune-modulatory effects. In combination with smoking or other long-term noxious exposures such as occupational dust and fumes, genetic A1AT deficiency can cause chronic obstructive pulmonary disease, a condition with elevated cardiovascular risk. The effects of A1AT deficiency on cardiovascular risk have hardly been studied today. METHODS: Using data from 2614 adults from the population-based SAPALDIA cohort, we tested associations of serum A1AT and SERPINA1 mutations with carotid intima-media thickness (CIMT, measured by B-mode ultrasonography) or self-reported arterial hypertension or cardiovascular disease in multiple regression models using a Mendelian Randomization like analysis design...
January 31, 2018: Atherosclerosis
https://www.readbyqxmd.com/read/29340222/direct-molecular-fishing-of-new-protein-partners-for-human-thromboxane-synthase
#3
A V Svirid, P V Ershov, E O Yablokov, L A Kaluzhskiy, Yu V Mezentsev, A V Florinskaya, T A Sushko, N V Strushkevich, A A Gilep, S A Usanov, A E Medvedev, A S Ivanov
Thromboxane synthase (TBXAS1) catalyzes the isomerization reaction of prostaglandin H2 producing thromboxane A2, the autocrine and paracrine factor in many cell types. A high activity and metastability by these arachidonic acid derivatives suggests the existence of supramolecular structures that are involved in the regulation of the biosynthesis and directed translocation of thromboxane to the receptor. The objective of this study was to identify TBXAS1 protein partners from human liver tissue lysate using a complex approach based on the direct molecular fishing technique, LC-MS/MS protein identification, and protein-protein interaction validation by surface plasmon resonance (SPR)...
October 2017: Acta Naturae
https://www.readbyqxmd.com/read/29309973/digital-pcr-quantification-of-serpina1-predicts-prognosis-in-high-grade-glioma
#4
Satoshi Ookawa, Masahiko Wanibuchi, Yuko Kataoka-Sasaki, Masanori Sasaki, Shinichi Oka, Shunya Ohtaki, Shouhei Noshiro, Katsuya Komatsu, Yukinori Akiyama, Takeshi Mikami, Nobuhiro Mikuni, Jeffery D Kocsis, Osamu Honmou
BACKGROUND: SERPINA1 plays an anti-inflammatory role in protecting tissues from proteolytic mechanisms. SERPINA1 is positive in gliomas by immunohistochemical analysis; however, the role of SERPINA1 including the relationship with prognosis has been uncertain. In recent years, digital polymerase chain reaction (PCR) has provided ultra-sensitive assessment of mRNA expression from formalin fixed paraffin embedded (FFPE) tissues. OBJECTIVE: In this study, we quantitatively determined the expression of SERPINA1 in high-grade gliomas (HGGs) using digital PCR and analyzed its relationship with prognosis...
January 5, 2018: World Neurosurgery
https://www.readbyqxmd.com/read/29232161/characterization-of-novel-missense-variants-of-serpina1-gene-causing-alpha-1-antitrypsin-deficiency
#5
Nerea Matamala, Beatriz Lara, Gema Gomez-Mariano, Selene Martínez, Diana Retana, Taiomara Fernandez, Ramona Angeles Silvestre, Irene Belmonte, Francisco Rodriguez-Frias, Marçal Vilar, Raquel Sáez, Igor Iturbe, Silvia Castillo, María Molina-Molina, Anna Texido, Gema Tirado-Conde, Jose Luis Lopez-Campos, Manuel Posada, Ignacio Blanco, Sabina Janciauskiene, Beatriz Martinez-Delgado
SERPINA1 gene is highly polymorphic, with more than one hundred variants described in databases. The SERPINA1 encodes alpha-1 antitrypsin (AAT) protein, and the severe deficiency of AAT is a major contributor to pulmonary emphysema and liver diseases. We report seven new variants in Spanish patients with AAT deficiency. All variants involved amino acid substitutions in different exons: PiSDonosti (S+Ser14Phe), PiTijarafe (Ile50Asn), PiSevilla (Ala58Asp), PiCadiz (Glu151Lys), PiTarragona (Phe227Cys), PiPuerto Real (Thr249Ala) and PiValencia (Lys328Glu)...
December 12, 2017: American Journal of Respiratory Cell and Molecular Biology
https://www.readbyqxmd.com/read/29182883/clinical-experience-with-serpina1-dna-sequencing-to-detect-alpha-1-antitrypsin-deficiency
#6
François Maltais, Nathalie Gaudreault, Christine Racine, Sébastien Thériault, Yohan Bossé
No abstract text is available yet for this article.
November 28, 2017: Annals of the American Thoracic Society
https://www.readbyqxmd.com/read/29163550/evaluation-of-alpha-1-antitrypsin-levels-and-serpina1-gene-polymorphisms-in-sickle-cell-disease
#7
Magda Oliveira Seixas Carvalho, André Luís Carvalho Santos Souza, Mauricio Batista Carvalho, Ana Paula Almeida Souza Pacheco, Larissa Carneiro Rocha, Valma Maria Lopes do Nascimento, Camylla Vilas Boas Figueiredo, Caroline Conceição Guarda, Rayra Pereira Santiago, Adekunle Adekile, Marilda de Souza Goncalves
Alpha-1 antitrypsin (AAT) is an inhibitor of neutrophil elastase and a member of the serine proteinase inhibitor (serpin) superfamily, and little is known about its activity in sickle cell disease (SCD). We hypothesize that AAT may undergo changes in SCD because of the high oxidative stress and inflammation associated with the disease. We have found high AAT levels in SCD patients compared to controls, while mutant genotypes of SERPINA1 gene had decreased AAT levels, in both groups. AAT showed negative correlation with red blood cells, hemoglobin (Hb), hematocrit, high-density lipoprotein cholesterol, urea, creatinine, and albumin and was positively correlated with mean corpuscular Hb concentration, white blood cells, neutrophils, Hb S, bilirubin, lactate dehydrogenase, ferritin, and C-reactive protein...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/29158881/serum-proteomic-profiling-of-obsessive-compulsive-disorder-washing-subtype-a-preliminary-study
#8
Mona Zamanian-Azodi, Mostafa Rezaei-Tavirani, Naser Nejadi, Afsaneh Arefi Oskouie, Faird Zayeri, Mostafa Hamdieh, Akram Safaei, Majid Rezaei-Tavirani, Alireza Ahmadzadeh, Alireza Amouzandeh-Nobaveh, Farshad Okhovatian
Introduction: Obsessive-Compulsive Disorder (OCD) is a disabling mental condition that its proteomic profiling is not yet investigated. Proteomics is a valuable tool to discover biomarker approaches. It can be helpful to detect protein expression changes in complex disorders such as OCD. Methods: Here, by the application of 2D gel electrophoresis (2DE), a pilot study of serum proteome profile of females with washing subtype of OCD was performed. Serum samples were obtained from females with washing subtype of OCD...
July 2017: Basic and Clinical Neuroscience
https://www.readbyqxmd.com/read/29109288/an-rna-structure-mediated-posttranscriptional-model-of-human-%C3%AE-1-antitrypsin-expression
#9
Meredith Corley, Amanda Solem, Gabriela Phillips, Lela Lackey, Benjamin Ziehr, Heather A Vincent, Anthony M Mustoe, Silvia B V Ramos, Kevin M Weeks, Nathaniel J Moorman, Alain Laederach
Chronic obstructive pulmonary disease (COPD) affects over 65 million individuals worldwide, where α-1-antitrypsin deficiency is a major genetic cause of the disease. The α-1-antitrypsin gene, SERPINA1, expresses an exceptional number of mRNA isoforms generated entirely by alternative splicing in the 5'-untranslated region (5'-UTR). Although all SERPINA1 mRNAs encode exactly the same protein, expression levels of the individual mRNAs vary substantially in different human tissues. We hypothesize that these transcripts behave unequally due to a posttranscriptional regulatory program governed by their distinct 5'-UTRs and that this regulation ultimately determines α-1-antitrypsin expression...
November 6, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29080277/proteomic-profiling-of-follicle-fluids-after-superstimulation-in-one-month-old-lambs
#10
Y Wu, J Lin, B Han, L Wang, Y Chen, M Liu, J Huang
Follicular fluid (FF) accumulates in the antrum of the ovarian follicle. In addition, FF provides the microenvironment for oocyte development, oocyte maturation and competence, which are acquired during follicular development. Superstimulatory treatment of 1-month-old lambs can achieve synchronous development of numerous growing follicles. However, these growing follicles are unable to completely mature and ovulate. Furthermore, the oocytes exhibit lower competence compared with those of ewes. In this study, we utilized an isobaric tag for relative and absolute quantification (iTRAQ)-based proteomics analysis and compare protein composition between pre-pubertal and adult superstimulated follicle FF in sheep...
October 28, 2017: Reproduction in Domestic Animals, Zuchthygiene
https://www.readbyqxmd.com/read/29062863/the-vacuolar-h-atpase-v0-subunit-d2-is-associated-with-chondrocyte-hypertrophy-and-supports-chondrocyte-differentiation
#11
Babatunde A Ayodele, Michiko Mirams, Charles N Pagel, Eleanor J Mackie
Chondrocyte hypertrophy makes important contributions to bone development and growth. We have investigated a number of novel cartilage genes identified in a recent transcriptomic study to determine whether they are differentially expressed between different zones of equine foetal growth cartilage. Twelve genes (ATP6V0D2, BAK1, DDX5, GNB1, PIP4K2A, RAP1B, RPS7, SRSF3, SUB1, TMSB4, TPI1 and WSB2) were found to be more highly expressed in the zone of hypertrophic chondrocytes than in the reserve or proliferative zones, whereas FOXA3 and SERPINA1 were expressed at lower levels in the hypertrophic zone than in the reserve zone...
December 2017: Bone Reports
https://www.readbyqxmd.com/read/29049242/the-prevalence-of-pi-s-and-pi-z-serpina1-alleles-in-healthy-individuals-and-copd-patients-in-saudi-arabia-a-case-control-study
#12
Noura Al-Jameil, Amina A Hassan, Rana Hassanato, Sree R Isac, Maram Al Otaiby, Fadwa Al-Shareef, Basmah Al-Maarik, Iman Al Ajeyan, Khloud Al-Bahloul, Samina Ghani, Dana Al-Torbak
Alpha-1 antitrypsin (AAT) is an acute phase protein produced in hepatocytes. Its deficiency affects the lungs and liver. A case-control study was carried out to determine the prevalence of 2 common deficiency alleles, PI*S and PI*Z, for alpha-1 antitrypsin deficiency (AATD) in both healthy and chronic obstructive pulmmonary disease (COPD)-affected Saudi populations and to clarify the importance of genetic tests in the screening of people at risk for COPD.One thousand blood samples from healthy individuals and 1000 from COPD-affected Saudi individuals were genotyped for the above-mentioned alleles, using real-time polymerase chain reaction (PCR), with the exclusion of any other nationalities...
October 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28947017/identification-of-a-new-defective-serpina1-allele-pi-zla-palma-encoding-an-alpha-1-antitrypsin-with-altered-glycosylation-pattern
#13
José M Hernández-Pérez, Ruth Ramos-Díaz, José A Pérez
BACKGROUND: Alpha-1-antitrypsin (AAT) deficiency is a genetic condition that arises from mutations in the SERPINA1 gene and predisposes to develop pulmonary emphysema and, less frequently, liver disease. Occasionally, new defective SERPINA1 alleles are detected as an outcome of targeted-screening programs or case-findings. METHODS: This study began with a female patient showing bronchial hyperreactivity. Serum level and phenotype for AAT was analysed by immunonephelometry and isoelectric focusing electrophoresis...
October 2017: Respiratory Medicine
https://www.readbyqxmd.com/read/28915894/cardiovascular-risk-in-patients-with-alpha-1-antitrypsin-deficiency
#14
Sebastian Fähndrich, Frank Biertz, Annika Karch, Björn Kleibrink, Armin Koch, Helmut Teschler, Tobias Welte, Hans-Ulrich Kauczor, Sabina Janciauskiene, Rudolf A Jörres, Timm Greulich, Claus F Vogelmeier, Robert Bals
BACKGROUND: Alpha-1-antitrypsin deficiency (AATD) is a rare inherited condition caused by mutations of the SERPINA1 gene that is associated with the development of a COPD like lung disease. The comorbidities in patients with AATD-related lung diseases are not well defined. The aim of this study was to analyze the clinical phenotype of AATD patients within the German COPD cohort study COSYCONET ("COPD and SYstemic consequences-COmorbidities NETwork") cohort focusing on the distribution of comorbidities...
September 15, 2017: Respiratory Research
https://www.readbyqxmd.com/read/28887821/serpina1-and-man1b1-polymorphisms-are-not-linked-to-severe-liver-disease-in-a-french-cohort-of-alpha-1-antitrypsin-deficiency-children
#15
Philippe Joly, Alain Lachaux, Mathias Ruiz, Lioara Restier, Abdelhouaed Belmalih, Colette Chapuis-Cellier, Alain Francina, Céline Renoux, Marion Bouchecareilh
BACKGROUND & AIMS: Fifteen to twenty percent of alpha-1 antitrypsin deficiency patients (A1ATD) have a severe liver outcome (portal hypertension - PHT) during childhood. Since they all share the same ZZSERPINA1 genotype and that environmental factors such as alcohol cannot be advanced, the presence of modifier genes is now well recognized. SNPs located on the SERPINA1 and MAN1B1 genes have already been tested in very few studies with contradictory or not replicated results. METHODS: Our genotype-phenotype correlation study, performed on 92 ZZ children, aimed at determining once and for all if SERPINA1 and MAN1B1 polymorphisms may be implied in the onset of PHT...
November 2017: Liver International: Official Journal of the International Association for the Study of the Liver
https://www.readbyqxmd.com/read/28835277/prophylactic-inhibition-of-neutrophil-elastase-prevents-the-development-of-chronic-neuropathic-pain-in-osteoarthritic-mice
#16
Milind M Muley, Eugene Krustev, Allison R Reid, Jason J McDougall
BACKGROUND: A subset of osteoarthritis (OA) patients experience joint pain with neuropathic characteristics. Mediators such as neutrophil elastase, a serine proteinase, may be released during acute OA inflammatory flares. We have previously shown that local administration of neutrophil elastase causes joint inflammation and pain via activation of proteinase-activated receptor-2 (PAR2). The aim of this study was to examine the contribution of endogenous neutrophil elastase and PAR2 to the development of joint inflammation, pain, and neuropathy associated with monoiodoacetate (MIA)-induced experimental OA...
August 23, 2017: Journal of Neuroinflammation
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
#17
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...
November 2017: Acta Neuropathologica
https://www.readbyqxmd.com/read/28752443/measuring-and-interpreting-serum-aat-concentration
#18
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
#19
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
#20
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
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