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Serpina1

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https://www.readbyqxmd.com/read/29665991/differential-proteomic-analysis-of-actinic-keratosis-bowen-s-disease-and-cutaneous-squamous-cell-carcinoma-by-label-free-lc-ms-ms
#1
Ali Azimi, Kimberley L Kaufman, Marina Ali, Jonathan Arthur, Steven Kossard, Pablo Fernandez-Penas
BACKGROUND: The boundaries between actinic keratosis (AK), Bowen's disease (BD), and cutaneous squamous cell carcinoma (cSCC) are sometimes not clear. Large-scale proteomic profiling studies of these lesions are also non-existent. OBJECTIVE: To evaluate proteomic changes between normal epidermis, AK, BD and cSCC that could support a molecular classification and improve our understanding of disease progression. METHODS: Microdissected formalin-fixed paraffin embedded samples of normal epidermis (n = 4, pooled), AK (n = 10), BD (n = 10) and cSCC (n = 10) were analyzed by mass spectrometry...
April 10, 2018: Journal of Dermatological Science
https://www.readbyqxmd.com/read/29544770/acclimation-to-cold-and-warm-temperatures-is-associated-with-differential-expression-of-male-carp-blood-proteins-involved-in-acute-phase-and-stress-responses-and-lipid-metabolism
#2
Mariola A Dietrich, Piotr Hliwa, Mikołaj Adamek, Dieter Steinhagen, Halina Karol, Andrzej Ciereszko
The environmental temperature affects plasma biochemical indicators, antioxidant status and hematological and immunological parameters in fish. So far, only single blood proteins have been identified in response to temperature changes. The aim of this study was to compare the proteome of carp blood plasma from males acclimated to warm (30 °C) and cold (10 °C) temperatures by two-dimensional differential gel electrophoresis followed by MALDI-TOF/TOF mass spectrometry. A total of 47 spots were found to be differentially regulated by temperature (>1...
March 12, 2018: Fish & Shellfish Immunology
https://www.readbyqxmd.com/read/29500128/therapeutic-genome-editing-with-crispr-cas9-in-a-humanized-mouse-model-ameliorates-%C3%AE-1-antitrypsin-deficiency-phenotype
#3
Mikael Bjursell, Michelle J Porritt, Elke Ericson, Amir Taheri-Ghahfarokhi, Maryam Clausen, Lisa Magnusson, Therese Admyre, Roberto Nitsch, Lorenz Mayr, Leif Aasehaug, Frank Seeliger, Marcello Maresca, Mohammad Bohlooly-Y, John Wiseman
α1-antitrypsin (AAT) is a circulating serine protease inhibitor secreted from the liver and important in preventing proteolytic neutrophil elastase associated tissue damage, primarily in lungs. In humans, AAT is encoded by the SERPINA1 (hSERPINA1) gene in which a point mutation (commonly referred to as PiZ) causes aggregation of the miss-folded protein in hepatocytes resulting in subsequent liver damage. In an attempt to rescue the pathologic liver phenotype of a mouse model of human AAT deficiency (AATD), we used adenovirus to deliver Cas9 and a guide-RNA (gRNA) molecule targeting hSERPINA1...
February 19, 2018: EBioMedicine
https://www.readbyqxmd.com/read/29498931/functional-characterization-of-the-mouse-serpina1-paralog-dom-7
#4
Karen Jülicher, Annabell Wähner, Kerstin Haase, Karen W Barbour, Franklin G Berger, Lutz Wiehlmann, Colin Davenport, Karin Schuster-Gossler, Jörn Stitz, Tobias Cantz, Reto Eggenschwiler
The generation of authentic mouse-models for human α1-antitrypsin-deficiency is difficult due to the high complexity of the mouse Serpina1 gene locus. Depending on the exact mouse strain, three to five paralogs are expressed, with different proteinase inhibitory properties. With nowadays CRISPR-technology, genome editing of complex genomic loci is feasible and could be employed for generation of α1-antitrypsin-deficiency mouse-models. In preparation of a CRISPR/Cas9-based genome-engineering approach we identified cDNA clones with a functional CDS for the Serpina1-paralog DOM-7...
March 1, 2018: Biological Chemistry
https://www.readbyqxmd.com/read/29460271/serpina1-gene-variants-in-granulomatosis-with-polyangiitis
#5
Malgorzata Hadzik-Blaszczyk, Aneta Zdral, Tadeusz M Zielonka, Ada Rozy, Renata Krupa, Andrzej Falkowski, Kazimierz A Wardyn, Joanna Chorostowska-Wynimko, Katarzyna Zycinska
Alpha-1 antitrypsin (A1AT) deficiency is one of the most common genetic disorders in Caucasian population. There is a link between granulomatosis with polyangiitis (GPA) and most frequent variants of SERPINA1 gene encoding severe alpha-1 antitripsin deficiency. However, the potential effect of Pi*Z, Pi*S as well as other SERPINA1 variants on clinical course of vasculitis are not well understood. The aim of the study was to analyze the potential effect of A1AT protein phenotype representing the SERPINA1 gene variants on the clinical course of GPA...
February 20, 2018: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/29453277/editing-out-five-serpina1-paralogs-to-create-a-mouse-model-of-genetic-emphysema
#6
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
#7
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
#8
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-polymerase-chain-reaction-quantification-of-serpina1-predicts-prognosis-in-high-grade-glioma
#9
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 messenger RNA 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 we analyzed its relationship with prognosis...
March 2018: World Neurosurgery
https://www.readbyqxmd.com/read/29232161/characterization-of-novel-missense-variants-of-serpina1-gene-causing-alpha-1-antitrypsin-deficiency
#10
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
#11
François Maltais, Nathalie Gaudreault, Christine Racine, Sébastien Thériault, Yohan Bossé
No abstract text is available yet for this article.
February 2018: 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
#12
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
#13
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
#14
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 21, 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
#15
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...
February 2018: Reproduction in Domestic Animals, Zuchthygiene
https://www.readbyqxmd.com/read/29062863/the-vacuolar-h-atpase-v-0-subunit-d-2-is-associated-with-chondrocyte-hypertrophy-and-supports-chondrocyte-differentiation
#16
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
#17
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
#18
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
#19
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
#20
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
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