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https://www.readbyqxmd.com/read/29141314/-a-novel-compound-heterozygous-mutation-in-abca3-gene-in-a-child-with-diffuse-parenchymal-lung-disease
#1
Y M Bao, X L Liu, X L Liu, J H Chen, Y J Zheng
Objective: To summarize the clinical characteristics of the diffuse parenchymal lung diseases in a child caused by a novel compound heterozygous ABCA3 mutation and explore the association between the phenotype and ABCA3 mutation. Method: The clinical material of a patient diagnosed with diffuse parenchymal lung disease with ABCA3 mutation in December 2016 in Shenzhen Children's Hospital was analyzed. The information about ABCA3 gene mutation updated before April, 2017 was searched and collected from the gene databases (including 1000Genomes, HGMD, EXAC) and the literatures (including Wanfang Chinese database and Pubmed)...
November 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/29138038/low-dose-betamethasone-acetate-for-fetal-lung-maturation-in-preterm-sheep
#2
Augusto F Schmidt, Matthew W Kemp, Judith Rittenschober-Böhm, Paranthaman S Kannan, Haruo Usuda, Masatoshi Saito, Lucy Furfaro, Shimpei Watanabe, Sarah Stock, Boris W Kramer, John P Newnham, Suhas G Kallapur, Alan H Jobe
BACKGROUND: Antenatal steroids (ANS) are standard of care for women at risk of preterm delivery; however ANS dosing and formulation have not been adequately evaluated. The standard clinical 2-dose treatment with betamethasone-acetate+betamethasone-phosphate (Beta-P+Beta-Ac) is more effective than 2 doses of Beta-P for inducing lung maturation in preterm fetal sheep. We hypothesized that the slowly-released Beta-Ac component induces similar lung maturation to Beta-P+Beta-Ac with decreased dose and fetal exposure...
November 11, 2017: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/29083321/emc3-coordinates-surfactant-protein-and-lipid-homeostasis-required-for-respiration
#3
Xiaofang Tang, John M Snowball, Yan Xu, Cheng-Lun Na, Timothy E Weaver, Geremy Clair, Jennifer E Kyle, Erika M Zink, Charles Ansong, Wei Wei, Meina Huang, Xinhua Lin, Jeffrey A Whitsett
Adaptation to respiration at birth depends upon the synthesis of pulmonary surfactant, a lipid-protein complex that reduces surface tension at the air-liquid interface in the alveoli and prevents lung collapse during the ventilatory cycle. Herein, we demonstrated that the gene encoding a subunit of the endoplasmic reticulum membrane complex, EMC3, also known as TMEM111 (Emc3/Tmem111), was required for murine pulmonary surfactant synthesis and lung function at birth. Conditional deletion of Emc3 in murine embryonic lung epithelial cells disrupted the synthesis and packaging of surfactant lipids and proteins, impaired the formation of lamellar bodies, and induced the unfolded protein response in alveolar type 2 (AT2) cells...
October 30, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/28887056/quantification-of-volume-and-lipid-filling-of-intracellular-vesicles-carrying-the-abca3-transporter
#4
Stefanie Höppner, Susanna Kinting, Adriano A Torrano, Ulrike Schindlbeck, Christoph Bräuchle, Ralf Zarbock, Thomas Wittmann, Matthias Griese
The ABCA3 lipid transporter is located in the limiting membrane of lamellar bodies (LBs) in type-II-pneumocytes. Mutations within the ABCA3 gene may functionally impair the transporter, causing lung diseases in newborns, children and adults. Assays to quantify volume and lipid filling of the LBs on the level of the vesicular structures and thereby assess the function of ABCA3 are still lacking. In the present study human influenza haemagglutinin- (HA-) tagged wild type and mutant ABCA3 proteins were stably expressed in lung A549 cells...
December 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28808495/the-most-frequent-abca3-nonsense-mutation-p-tyr1515-y1515x-causing-lethal-neonatal-respiratory-failure-in-a-term-neonate
#5
AlNashmi AlAnazi, Ralph Epaud, Humariya Heena, Alix de Becdelievre, Abeer Mohammad Miqdad, Pascale Fanen
Defects in the surfactant biosynthesis are associated with respiratory distress syndrome, commonly occurring in premature infants due to lung immaturity. However, interstitial lung diseases have also been observed in full-term infants with mutations in the SFTPC, SFTPB, NKX2-1, or ABCA3 genes, involved in the surfactant metabolism. Herein, we report a newborn baby with neonatal respiratory distress and diffuse lung disease caused by ABCA3 mutation. The baby died at 5 weeks of age after developing pulmonary hypertension...
July 2017: Annals of Thoracic Medicine
https://www.readbyqxmd.com/read/28744141/the-translational-expression-of-abca2-and-abca3-is-a-strong-prognostic-biomarker-for-multidrug-resistance-in-pediatric-acute-lymphoblastic-leukemia
#6
Narges Aberuyi, Soheila Rahgozar, Zohreh Khosravi Dehaghi, Alireza Moafi, Andrea Masotti, Alessandro Paolini
PURPOSE: The aim of this work was to study the correlation between the expressions of the ABCA2 and ABCA3 genes at the mRNA and protein levels in children with acute lymphoblastic leukemia (ALL) and the effects of this association on multidrug resistance (MDR). MATERIALS AND METHODS: Sixty-nine children with de novo ALL and 25 controls were enrolled in the study. Mononuclear cells were isolated from the bone marrow. The mRNA levels of ABCA2 and ABCA3 were measured by real-time polymerase chain reaction (PCR)...
2017: OncoTargets and Therapy
https://www.readbyqxmd.com/read/28743969/human-amniotic-membrane-as-newly-identified-source-of-amniotic-fluid-pulmonary-surfactant
#7
Angela Lemke, José Carlos Castillo-Sánchez, Florian Prodinger, Asja Ceranic, Simone Hennerbichler-Lugscheider, Jesús Pérez-Gil, Heinz Redl, Susanne Wolbank
Pulmonary surfactant (PS) reduces surface tension at the air-liquid interface in the alveolar epithelium of the lung, which is required for breathing and for the pulmonary maturity of the developing foetus. However, the origin of PS had never been thoroughly investigated, although it was assumed to be secreted from the foetal developing lung. Human amniotic membrane (hAM), particularly its epithelial cell layer, composes the amniotic sac enclosing the amniotic fluid. In this study, we therefore aimed to investigate a potential contribution of the cellular components of the hAM to pulmonary surfactant found in amniotic fluid...
July 25, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28736185/effect-of-coa-cl-on-transforming-growth-factor-%C3%AE-1-induced-epithelial-mesenchymal-transition-in-rle-abca3-cells
#8
Masashi Kawami, Junya Deguchi, Ryoko Yumoto, Norikazu Sakakibara, Ikuko Tsukamoto, Ryoji Konishi, Mikihisa Takano
Transforming growth factor (TGF)-β1 has received much attention as a major inducer of epithelial-mesenchymal transition (EMT) in pathological conditions such as cancer and organ fibrosis. In this study, we examined the effect of a novel nucleic acid analog, COA-Cl, on TGF-β1-induced EMT using RLE/Abca3, a cell line having alveolar type II cell-like phenotype. Changes in the cell morphology consistent with EMT were induced by TGF-β1, whereas, this response was suppressed by co-treatment of the cells with COA-Cl...
May 17, 2017: Drug Metabolism and Pharmacokinetics
https://www.readbyqxmd.com/read/28683465/abca3-phenotype-in-non-small-cell-lung-cancer-indicates-poor-outcome
#9
Tobias R Overbeck, Johanna Arnemann, Regina Waldmann-Beushausen, Lorenz Trümper, Friedrich A Schöndube, Kirsten Reuter-Jessen, Bernhard C Danner
BACKGROUND: ATP-binding cassette transport protein A3 (ABCA3) is expressed in non-small cell lung cancer (NSCLC). We hypothesize that high-level ABCA3 expression may have a negative prognostic impact in patients with NSCLC. METHODS: In 89 patients with NSCLC and curative intended surgery, we analyzed postoperative immunohistochemistry staining of primary tumors (anti-ABCA3) and clinicopathological parameters. We used a unidimensional four point score (FPS) system for intensity assessment and, furthermore, a combined bidimensional scoring of intensity and quantity resulting in the positive index (PI)...
2017: Oncology
https://www.readbyqxmd.com/read/28642621/variants-of-the-abca3-gene-might-contribute-to-susceptibility-to-interstitial-lung-diseases-in-the-chinese-population
#10
Wei Zhou, Yi Zhuang, Jiapeng Sun, Xiaofen Wang, Qingya Zhao, Lizhi Xu, Yaping Wang
ATP-binding cassette A3 (ABCA3) is a phospholipid carrier that is mainly expressed in the alveolar epithelium. Biallelic mutations of ABCA3 has been associated with fatal respiratory distress syndrome and interstitial lung disease (ILD) in children. However, whether variations in ABCA3 have a role in the development of adult ILD, including idiopathic pulmonary fibrosis (IPF), remains to be addressed. In this study, we screened for germline variants of ABCA3 by exons-sequencing in 30 patients with sporadic IPF and in 30 matched healthy controls...
June 22, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28408209/role-of-mir-34a-in-tgf-%C3%AE-1-and-drug-induced-epithelial-mesenchymal-transition-in-alveolar-type-ii-epithelial-cells
#11
Mikihisa Takano, Chinami Nekomoto, Masashi Kawami, Ryoko Yumoto
Epithelial-mesenchymal transition (EMT) of alveolar type II epithelial cells may play an important role in the pulmonary fibrosis induced by drugs such as bleomycin (BLM) and methotrexate (MTX). In this study, we examined the role of microRNAs (miRNAs) in drug-induced EMT using RLE/Abca3, a cell line having alveolar type II cell-like phenotype. Based on the screening using miRNA microarray analysis, it was found that the expression of some miRNAs, such as miR-34a, was increased by transforming growth factor (TGF)-β1 and BLM...
April 10, 2017: Journal of Pharmaceutical Sciences
https://www.readbyqxmd.com/read/28318025/maternal-chronic-hypoxia-increases-expression-of-genes-regulating-lung-liquid-movement-and-surfactant-maturation-in-male-fetuses-in-late-gestation
#12
Erin V McGillick, Sandra Orgeig, Beth J Allison, Kirsty L Brain, Youguo Niu, Nozomi Itani, Katie L Skeffington, Andrew D Kane, Emilio A Herrera, Dino A Giussani, Janna L Morrison
KEY POINTS: Chronic fetal hypoxaemia is a common pregnancy complication associated with intrauterine growth restriction that may influence respiratory outcome at birth. We investigated the effect of maternal chronic hypoxia for a month in late gestation on signalling pathways regulating fetal lung maturation and the transition to air-breathing at birth using isobaric hypoxic chambers without alterations to maternal food intake. Maternal chronic hypoxia in late gestation increases fetal lung expression of genes regulating hypoxia signalling, lung liquid reabsorption and surfactant maturation, which may be an adaptive response in preparation for the successful transition to air-breathing at birth...
July 1, 2017: Journal of Physiology
https://www.readbyqxmd.com/read/28241820/examining-the-role-of-abc-lipid-transporters-in-pulmonary-lipid-homeostasis-and-inflammation
#13
REVIEW
Amanda B Chai, Alaina J Ammit, Ingrid C Gelissen
Respiratory diseases including asthma and chronic obstructive pulmonary disease (COPD) are characterised by excessive and persistent inflammation. Current treatments are often inadequate for symptom and disease control, and hence new therapies are warranted. Recent emerging research has implicated dyslipidaemia in pulmonary inflammation. Three ATP-binding cassette (ABC) transporters are found in the mammalian lung - ABCA1, ABCG1 and ABCA3 - that are involved in movement of cholesterol and phospholipids from lung cells...
February 28, 2017: Respiratory Research
https://www.readbyqxmd.com/read/28215425/outcomes-of-lung-transplantation-for-infants-and-children-with-genetic-disorders-of-surfactant-metabolism
#14
COMPARATIVE STUDY
Whitney B Eldridge, Qunyuan Zhang, Albert Faro, Stuart C Sweet, Pirooz Eghtesady, Aaron Hamvas, F Sessions Cole, Jennifer A Wambach
OBJECTIVE: To compare outcomes of infants and children who underwent lung transplantation for genetic disorders of surfactant metabolism (SFTPB, SFTPC, ABCA3, and NKX2-1) over 2 epochs (1993-2003 and 2004-2015) at St Louis Children's Hospital. STUDY DESIGN: We retrospectively reviewed clinical characteristics, mortality, and short- and long-term morbidities of infants (transplanted at <1 year; n = 28) and children (transplanted >1 year; n = 16) and compared outcomes by age at transplantation (infants vs children) and by epoch of transplantation...
May 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/28034695/aberrant-lung-remodeling-in-a-mouse-model-of-surfactant-dysregulation-induced-by-modulation-of-the-abca3-gene
#15
Michael F Beers, Lars Knudsen, Yaniv Tomer, Julian Maronn, Ming Zhao, Matthias Ochs, Surafel Mulugeta
The lipid transporter, ATP binding cassette class A3 (ABCA3), plays a critical role in the biogenesis of alveolar type 2 (AT2) cell lamellar bodies (LBs). A relatively large number of mutations in the ABCA3 gene have been identified in association with diffuse parenchymal lung disease (DPLD), the most common of which is a missense mutation (valine substitution for lysine at residue 292 (ABCA3(E292V))) that leads to functional impairment of the transporter in vitro. The consequences of ABCA3(E292)(V) gene expression in vivo are unknown...
March 2017: Annals of Anatomy, Anatomischer Anzeiger: Official Organ of the Anatomische Gesellschaft
https://www.readbyqxmd.com/read/28025703/the-biology-of-the-abca3-lipid-transporter-in-lung-health-and-disease
#16
REVIEW
Michael F Beers, Surafel Mulugeta
The lipid transporter, ATP-binding cassette class A3 (ABCA3), is a highly conserved multi-membrane-spanning protein that plays a critical role in the regulation of pulmonary surfactant homeostasis. Mutations in ABCA3 have been increasingly recognized as one of the causes of inherited pulmonary diseases. These monogenic disorders produce familial lung abnormalities with pathological presentations ranging from neonatal surfactant-deficiency-induced respiratory failure to childhood or adult diffuse parenchymal lung diseases for which specific treatment modalities remain limited...
March 2017: Cell and Tissue Research
https://www.readbyqxmd.com/read/28002023/valproic-acid-vpa-enhances-cisplatin-sensitivity-of-non-small-cell-lung-cancer-cells-via-hdac2-mediated-down-regulation-of-abca1
#17
Jian-Hui Chen, Yu-Long Zheng, Chuan-Qin Xu, Li-Zhi Gu, Zong-Li Ding, Ling Qin, Yi Wang, Ran Fu, Yu-Feng Wan, Cheng-Ping Hu
Valproic acid (VPA) has been suggested to be a histone deacetylase inhibitor (HDACI). Our present study revealed that VPA at 1 mm, which had no effect on cell proliferation, can significantly increase the sensitivity of non-small cell lung cancer (NSCLC) cells to cisplatin (DDP). VPA treatment markedly decreased the mRNA and protein levels of ABCA1, while had no significant effect on ABCA3, ABCA7 or ABCB10. Luciferase reporter assays showed that VPA can decrease the ABCA1 promoter activity in both A549 and H358 cells...
June 27, 2017: Biological Chemistry
https://www.readbyqxmd.com/read/27967234/alternative-progenitor-lineages-regenerate-the-adult-lung-depleted-of-alveolar-epithelial-type-2-cells
#18
Min Yee, William Domm, Robert Gelein, Karen L de Mesy Bentley, R Matthew Kottmann, Patricia J Sime, B Paige Lawrence, Michael A O'Reilly
An aberrant oxygen environment at birth increases the severity of respiratory viral infections later in life through poorly understood mechanisms. Here, we show that alveolar epithelial cell (AEC) 2 cells (AEC2s), progenitors for AEC1 cells, are depleted in adult mice exposed to neonatal hypoxia or hyperoxia. Airway cells expressing surfactant protein (SP)-C and ATP binding cassette subfamily A member 3, alveolar pod cells expressing keratin (KRT) 5, and pulmonary fibrosis were observed when these mice were infected with a sublethal dose of HKx31, H3N2 influenza A virus...
April 2017: American Journal of Respiratory Cell and Molecular Biology
https://www.readbyqxmd.com/read/27784479/-pulmonary-surfactant-protein-adenosine-triphosphate-binding-cassette-a3-gene-composite-mutations-in-infant-congenital-interstitial-lung-disease-report-of-a-case-and-review-of-literature
#19
N Xie, D H Chen, Y N Lin, S Z Wu, Y Y Gu, Q S Zeng, Y Y Zhai, L Y Yang, J X Xu
Objective: To report a case of the pulmonary surfactant protein(SP) adenosine triphosphate-binding-cassette-A3 (ABCA3) gene mutations in infant congenital interstitial lung disease(ILD), and review the related literature, to investigate the relationships of ABCA3 gene mutation associated with ILD in infants. Method: A 6-months-old boy was hospitalized in the department of Pediatrics of the First Affiliated Hospital of Guangzhou Medical University. The clinical, radiological, histological information from transbronchial lung biopsy (TBLB) and genetic testing in this case was analyzed; 12 reports retrieved on literature search at Pubmed, OVID databases from 2004 to 2015 by using the ABCA3 as keyword were reviewed and analyzed...
October 2, 2016: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/27688707/novel-biomarker-candidates-for-colorectal-cancer-metastasis-a-meta-analysis-of-in-vitro-studies
#20
Nguyen Phuoc Long, Wun Jun Lee, Nguyen Truong Huy, Seul Ji Lee, Jeong Hill Park, Sung Won Kwon
Colorectal cancer (CRC) is one of the most common and lethal cancers. Although numerous studies have evaluated potential biomarkers for early diagnosis, current biomarkers have failed to reach an acceptable level of accuracy for distant metastasis. In this paper, we performed a gene set meta-analysis of in vitro microarray studies and combined the results from this study with previously published proteomic data to validate and suggest prognostic candidates for CRC metastasis. Two microarray data sets included found 21 significant genes...
2016: Cancer Informatics
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