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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
#1
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
#2
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
https://www.readbyqxmd.com/read/27670912/fatal-respiratory-disease-due-to-a-homozygous-intronic-abca3-mutation-a-case-report
#3
Harry Pachajoa, Felipe Ruiz-Botero, Luis Enrique Meza-Escobar, Vania Alexandra Villota-Delgado, Adriana Ballesteros, Ivan Padilla, Diana Duarte
BACKGROUND: Pulmonary surfactant is a complex mixture of lipids and proteins. Mutations in surfactant protein-C, surfactant protein-D, and adenosine triphosphate-binding cassette subfamily A member 3 have been related to surfactant dysfunction and neonatal respiratory failure in full-term babies. Adenosine triphosphate-binding cassette subfamily A member 3 facilitates the transfer of lipids to lamellar bodies. We report the case of patient with a homozygous intronic ABCA3 mutation. CASE PRESENTATION: We describe a newborn full-term Colombian baby boy who was the son of non-consanguineous parents of mixed race ancestry (Mestizo), who was delivered with severe respiratory depression...
September 26, 2016: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/27521922/phylogenetic-analysis-of-the-atp-binding-cassette-transporter-family-in-three-mosquito-species
#4
Hong Lu, Yongyu Xu, Feng Cui
The ATP-binding cassette (ABC) transporter family functions in the ATP-dependent transportation of various substrates across biological membranes. ABC proteins participate in various biological processes and insecticide resistance in insects, and are divided into eight subfamilies (A-H). Mosquitoes are important vectors of human diseases, but the mechanism by which the ABC transporter family evolves in mosquitoes is unknown. In this study, we classified and compared the ABC transporter families of three mosquitoes, namely, Anopheles gambiae, Aedes aegypti, and Culex pipiens quinquefasciatus...
September 2016: Pesticide Biochemistry and Physiology
https://www.readbyqxmd.com/read/27516224/lung-disease-caused-by-abca3-mutations
#5
Carolin Kröner, Thomas Wittmann, Simone Reu, Veronika Teusch, Mathias Klemme, Daniela Rauch, Meike Hengst, Matthias Kappler, Nazan Cobanoglu, Tugba Sismanlar, Ayse T Aslan, Ilaria Campo, Marijke Proesmans, Thomas Schaible, Susanne Terheggen-Lagro, Nicolas Regamey, Ernst Eber, Jürgen Seidenberg, Nicolaus Schwerk, Charalampos Aslanidis, Peter Lohse, Frank Brasch, Ralf Zarbock, Matthias Griese
BACKGROUND: Knowledge about the clinical spectrum of lung disease caused by variations in the ATP binding cassette subfamily A member 3 (ABCA3) gene is limited. Here we describe genotype-phenotype correlations in a European cohort. METHODS: We retrospectively analysed baseline and outcome characteristics of 40 patients with two disease-causing ABCA3 mutations collected between 2001 and 2015. RESULTS: Of 22 homozygous (15 male) and 18 compound heterozygous patients (3 male), 37 presented with neonatal respiratory distress syndrome as term babies...
August 11, 2016: Thorax
https://www.readbyqxmd.com/read/27512515/adenosine-triphosphate-binding-cassette-member-a3-gene-mutation-in-children-from-one-family-from-saudi-arabia
#6
Gawahir Mohamed Ahmed Mukhtar, Wadha Hilal Al Otaibi, Khalid Fahad Abdullah Al-Mobaireek, Suhail Al-Saleh
Mutation in ABCA3, which is adenosine triphosphate-binding cassette member A3, a member of protein transporter family for phospholipids into the lamellar bodies during synthesis of surfactant, can cause lung disease related to surfactant dysfunction with autosomal recessive pattern. We reported three cases from same family with ABCA3 mutation, their gene, clinical course, and outcomes mentioning that one patient had successful lung transplantation, one started the process of the lung transplantation while the third one died during infancy...
July 2016: Annals of Thoracic Medicine
https://www.readbyqxmd.com/read/27491559/neo-tanshinlactone-selectively-inhibits-the-proliferation-of-estrogen-receptor-positive-breast-cancer-cells-through-transcriptional-down-regulation-of-estrogen-receptor-alpha
#7
Wanjun Lin, Jiajun Huang, Xiaolin Liao, Zhongwen Yuan, Senling Feng, Ying Xie, Wenzhe Ma
Breast cancer, the most frequent cancer in women, is the second leading cause of cancer-related death. Estrogens and estrogen receptors are well recognized to play predominant roles in breast cancer development and growth. Neo-tanshinlactone is a natural product isolated from Salvia miltiorrhiza and showed selective growth inhibition of ER+ breast cancer cell lines as demonstrated by cell proliferation assay and colony formation assay. The selective anti-proliferative effect of neo-tanshinlactone was associated with the induction of apoptosis in ER+ breast cancer cells...
September 2016: Pharmacological Research: the Official Journal of the Italian Pharmacological Society
https://www.readbyqxmd.com/read/27437095/novel-mutation-in-the-atp-binding-cassette-transporter-a3-abca3-encoding-gene-causes-respiratory-distress-syndrome-in-a-term-newborn-in-southwest-iran
#8
Farideh Rezaei, Mohammad Shafiei, Gholamreza Shariati, Ali Dehdashtian, Maryam Mohebbi, Hamid Galehdari
INTRODUCTION: ABCA3 glycoprotein belongs to the ATP-binding cassette (ABC) superfamily of transporters, which utilize the energy derived from hydrolysis of ATP for the translocation of a wide variety of substrates across the plasma membrane. Mutations in the ABCA3 gene are knowingly causative for fatal surfactant deficiency, particularly respiratory distress syndrome (RDS) in term babies. CASE PRESENTATION: In this study, Sanger sequencing of the whole ABCA3 gene (NCBI NM_001089) was performed in a neonatal boy with severe RDS...
April 2016: Iranian Journal of Pediatrics
https://www.readbyqxmd.com/read/27374344/functional-characterization-of-atp-binding-cassette-transporter-a3-mutations-from-infants-with-respiratory-distress-syndrome
#9
Jennifer A Wambach, Ping Yang, Daniel J Wegner, Hillary B Heins, Lyudmila N Kaliberova, Sergey A Kaliberov, David T Curiel, Frances V White, Aaron Hamvas, Brian P Hackett, F Sessions Cole
Mutations in the ATP-binding cassette transporter A3 gene (ABCA3) result in severe neonatal respiratory distress syndrome and childhood interstitial lung disease. As most ABCA3 mutations are rare or private, determination of mutation pathogenicity is often based on results from in silico prediction tools, identification in unrelated diseased individuals, statistical association studies, or expert opinion. Functional biologic studies of ABCA3 mutations are needed to confirm mutation pathogenicity and inform clinical decision making...
November 2016: American Journal of Respiratory Cell and Molecular Biology
https://www.readbyqxmd.com/read/27352740/homooligomerization-of-abca3-and-its-functional-significance
#10
Sabrina Frixel, Amelie S Lotz-Havla, Sunčana Kern, Eva Kaltenborn, Thomas Wittmann, Søren W Gersting, Ania C Muntau, Ralf Zarbock, Matthias Griese
ABCA3 is a surfactant lipid transporter in the limiting membrane of lamellar bodies in alveolar type II cells. Mutations in the ATP-binding cassette, sub-family A (ABC1), member 3 (ABCA3) gene cause respiratory distress syndrome in newborns, and chronic interstitial lung disease in children and adults. ABCA3 belongs to the class of full ABC transporters, which are supposed to be functional in their monomeric forms. Although other family members e.g., ABCA1 and ABCC7 have been shown to function as oligomers, the oligomerization state of ABCA3 is unknown...
August 2016: International Journal of Molecular Medicine
https://www.readbyqxmd.com/read/27236157/%C3%A2-thymosin-%C3%AE-10-as-a-predictive-biomarker-of-response-to-5-fluorouracil-chemotherapy-in-cholangiocarcinoma
#11
Sirinapa Sribenja, Nichapavee Natthasirikul, Kulthida Vaeteewoottacharn, Kanlayanee Sawanyawisuth, Chaisiri Wongkham, Patcharee Jearanaikoon, Sopit Wongkham
UNLABELLED:  Introduction and aim. 5-Fluorouracil (5-FU) is the most commonly used chemotherapeutic drug in the treatment of cholangiocarcinoma (CCA). Since development of drug resistance to 5-FU in CCA patients is the primary cause of treatment failure, a better understanding of the mechanism of drug resistance of this cancer is essential to improve the efficacy of 5-FU in CCA therapy. MATERIAL AND METHODS: A 5-FU resistant CCA cell line (M214-5FUR) for a comparative chemo-resistance study was established...
July 2016: Annals of Hepatology
https://www.readbyqxmd.com/read/27190064/bmp-signaling-is-essential-in-neonatal-surfactant-production-during-respiratory-adaptation
#12
Yongfeng Luo, Hui Chen, Siying Ren, Nan Li, Yuji Mishina, Wei Shi
Deficiency in pulmonary surfactant results in neonatal respiratory distress, and the known genetic mutations in key components of surfactant only account for a small number of cases. Therefore, determining the regulatory mechanisms of surfactant production and secretion, particularly during the transition from prenatal to neonatal stages, is essential for better understanding of the pathogenesis of human neonatal respiratory distress. We have observed significant increase of bone morphogenetic protein (BMP) signaling in neonatal mouse lungs immediately after birth...
July 1, 2016: American Journal of Physiology. Lung Cellular and Molecular Physiology
https://www.readbyqxmd.com/read/27177387/tools-to-explore-abca3-mutations-causing-interstitial-lung-disease
#13
Thomas Wittmann, Ulrike Schindlbeck, Stefanie Höppner, Susanna Kinting, Sabrina Frixel, Carolin Kröner, Gerhard Liebisch, Jan Hegermann, Charalampos Aslanidis, Frank Brasch, Simone Reu, Peter Lasch, Ralf Zarbock, Matthias Griese
BACKGROUND: Interstitial lung diseases (ILD) comprise disorders of mostly unknown cause. Among the few molecularly defined entities, mutations in the gene encoding the ATP-binding cassette (ABC), subfamily A, member 3 (ABCA3) lipid transporter represent the main cause of inherited surfactant dysfunction disorders, a subgroup of ILD. Whereas many cases are reported, specific methods to functionally define such mutations are rarely presented. MATERIALS AND METHODS: In this study, we exemplarily utilized a set of molecular tools to characterize the mutation K1388N, which had been identified in a patient suffering from ILD with lethal outcome...
December 2016: Pediatric Pulmonology
https://www.readbyqxmd.com/read/27031696/analysis-of-the-proteolytic-processing-of-abca3-identification-of-cleavage-site-and-involved-proteases
#14
Nicole Hofmann, Dmitry Galetskiy, Daniela Rauch, Thomas Wittmann, Andreas Marquardt, Matthias Griese, Ralf Zarbock
RATIONALE: ABCA3 is a lipid transporter in the limiting membrane of lamellar bodies in alveolar type II cells. Mutations in the ABCA3 gene cause respiratory distress syndrome in new-borns and childhood interstitial lung disease. ABCA3 is N-terminally cleaved by an as yet unknown protease, a process believed to regulate ABCA3 activity. METHODS: The exact site where ABCA3 is cleaved was localized using mass spectrometry (MS). Proteases involved in ABCA3 processing were identified using small molecule inhibitors and siRNA mediated gene knockdown...
2016: PloS One
https://www.readbyqxmd.com/read/26936783/regulation-of-lung-maturation-by-prolyl-hydroxylase-domain-inhibition-in-the-lung-of-the-normally-grown-and-placentally-restricted-fetus-in-late-gestation
#15
Erin V McGillick, Sandra Orgeig, Janna L Morrison
Intrauterine growth restriction induced by placental restriction (PR) in sheep leads to chronic hypoxemia and reduced surfactant maturation. The underlying molecular mechanism involves altered regulation of hypoxia signaling by increased prolyl hydroxylase domain (PHD) expression. Here, we evaluated the effect of intratracheal administration of the PHD inhibitor dimethyloxalylglycine (DMOG) on functional, molecular, and structural determinants of lung maturation in the control and PR sheep fetus. There was no effect of DMOG on fetal blood pressure or fetal breathing movements...
June 1, 2016: American Journal of Physiology. Regulatory, Integrative and Comparative Physiology
https://www.readbyqxmd.com/read/26928390/increased-risk-of-interstitial-lung-disease-in-children-with-a-single-r288k-variant-of-abca3
#16
Thomas Wittmann, Sabrina Frixel, Stefanie Höppner, Ulrike Schindlbeck, Andrea Schams, Matthias V Kappler, Jan Hegermann, Christoph Wrede, Gerhard Liebisch, Anne Vierzig, Angela Zacharasiewicz, Matthias Kopp, Christian F Poets, Winfried Baden, Dominik Hartl, Anton H Van Kaam, Peter Lohse, Charalampos Aslanidis, Ralf Zarbock, Matthias Griese
RATIONALE: The ABCA3 gene encodes a lipid transporter in type II pneumocytes critical for survival and normal respiratory function. The frequent ABCA3 variant R288K increases the risk for neonatal respiratory distress syndrome among term and late preterm neonates, but its role in children's interstitial lung disease has not been studied in detail. OBJECTIVES: In a retrospective cohort study of 228 children with interstitial lung disease related to the alveolar surfactant system, the frequency of R288K was assessed and the phenotype of patients carrying a single R288K variant further characterized by clinical course, lung histology, computed tomography, and bronchoalveolar lavage phosphatidylcholine PC 32:0...
February 26, 2016: Molecular Medicine
https://www.readbyqxmd.com/read/26921150/-deficiency-of-surfactant-protein-case-report
#17
María Beatriz Milet, Patricia Mena N, Héctor I Pérez, Tatiana Espinoza
INTRODUCTION: Congenital surfactant deficiency is a condition infrequently diagnosed in newborns. A clinical case is presented of surfactant protein B deficiency. A review is performed on the study, treatment and differential diagnosis of surfactant protein deficiencies and infant chronic interstitial lung disease. CASE REPORT: The case is presented of a term newborn that developed respiratory distress, recurrent pulmonary opacification, and a transient response to the administration of surfactant...
February 23, 2016: Revista Chilena de Pediatría
https://www.readbyqxmd.com/read/26903515/functional-validation-of-abca3-as-a-miltefosine-transporter-in-human-macrophages-impact-on-intracellular-survival-of-leishmania-viannia-panamensis
#18
Luuk C T Dohmen, Adriana Navas, Deninson Alejandro Vargas, David J Gregory, Anke Kip, Thomas P C Dorlo, Maria Adelaida Gomez
Within its mammalian host, Leishmania resides and replicates as an intracellular parasite. The direct activity of antileishmanials must therefore depend on intracellular drug transport, metabolism, and accumulation within the host cell. In this study, we explored the role of human macrophage transporters in the intracellular accumulation and antileishmanial activity of miltefosine (MLF), the only oral drug available for the treatment of visceral and cutaneous leishmaniasis (CL). Membrane transporter gene expression in primary human macrophages infected in vitro with Leishmania Viannia panamensis and exposed to MLF showed modulation of ABC and solute liquid carrier transporters gene transcripts...
April 29, 2016: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/26780485/abca3-mutations-led-to-pulmonary-fibrosis-and-emphysema-with-pulmonary-hypertension-in-an-8-year-old-girl
#19
Chiharu Ota, Masato Kimura, Shigeo Kure
ABCA3 is highly expressed in alveolar epithelial type 2 cells and is associated with surfactant homeostasis. Patients with ABCA3 mutations develop various respiratory complications, such as fatal respiratory distress syndrome or interstitial lung disease. We describe a patient with pulmonary fibrosis and emphysema with pulmonary hypertension, associated with compound heterozygous mutations of the ABCA3 gene. This is the first report showing that mutations in the ABCA3 gene lead to pulmonary fibrosis and emphysema, including combined pulmonary fibrosis and emphysema, in childhood...
June 2016: Pediatric Pulmonology
https://www.readbyqxmd.com/read/26547207/population-based-frequency-of-surfactant-dysfunction-mutations-in-a-native-chinese-cohort
#20
Yu-Jun Chen, Jennifer Anne Wambach, Kelcey DePass, Daniel James Wegner, Shao-Ke Chen, Qun-Yuan Zhang, Hillary Heins, Francis Sessions Cole, Aaron Hamvas
BACKGROUND: Rare mutations in surfactant-associated genes contribute to neonatal respiratory distress syndrome. The frequency of mutations in these genes in the Chinese population is unknown. METHODS: We obtained blood spots from the Guangxi Neonatal Screening Center in Nanning, China that included Han (n=443) and Zhuang (n=313) ethnic groups. We resequenced all exons of the surfactant proteins-B (SFTPB), -C (SFTPC), and the ATP-binding cassette member A3 (ABCA3) genes and compared the frequencies of 5 common and all rare variants...
May 2016: World Journal of Pediatrics: WJP
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