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Journal articles on the topic 'ABCA13'

Author: Grafiati

Published: 4 June 2021

Last updated: 10 February 2022

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1

Hlaváč, Viktor, Radka Václavíková, Veronika Brynychová, et al. "Role of Genetic Variation in ABC Transporters in Breast Cancer Prognosis and Therapy Response." International Journal of Molecular Sciences 21, no. 24 (2020): 9556. http://dx.doi.org/10.3390/ijms21249556.

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Breast cancer is the most common cancer in women in the world. The role of germline genetic variability in ATP-binding cassette (ABC) transporters in cancer chemoresistance and prognosis still needs to be elucidated. We used next-generation sequencing to assess associations of germline variants in coding and regulatory sequences of all human ABC genes with response of the patients to the neoadjuvant cytotoxic chemotherapy and disease-free survival (n = 105). A total of 43 prioritized variants associating with response or survival in the above testing phase were then analyzed by allelic discrim

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2

Kruh, Gary D., Yanping Guo, Elizabeth Hopper-Borge, Martin G. Belinsky, and Zhe-Sheng Chen. "ABCC10, ABCC11, and ABCC12." Pflügers Archiv - European Journal of Physiology 453, no. 5 (2006): 675–84. http://dx.doi.org/10.1007/s00424-006-0114-1.

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3

Barros, Scott A., Raymond W. Tennant, and Ronald E. Cannon. "Molecular structure and characterization of a novel murine ABC transporter, Abca13." Gene 307 (March 2003): 191–200. http://dx.doi.org/10.1016/s0378-1119(03)00465-7.

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4

Dwyer, S., H. Williams, I. Jones, et al. "Investigation of rare non-synonymous variants at ABCA13 in schizophrenia and bipolar disorder." Molecular Psychiatry 16, no. 8 (2011): 790–91. http://dx.doi.org/10.1038/mp.2011.2.

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5

Nymoen, Dag, Arild Holth, Thea E. Hetland Falkenthal, Claes G. Tropé, and Ben Davidson. "CIAPIN1 and ABCA13 are markers of poor survival in metastatic ovarian serous carcinoma." Molecular Cancer 14, no. 1 (2015): 44. http://dx.doi.org/10.1186/s12943-015-0317-1.

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6

Maeß, Marten B., Katrin Stolle, Paul Cullen, and Stefan Lorkowski. "Evidence for an alternative genomic structure, mRNA and protein sequence of human ABCA13." Gene 515, no. 2 (2013): 298–307. http://dx.doi.org/10.1016/j.gene.2012.11.072.

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7

Chen, Jian-Hui, Yu-Long Zheng, Chuan-Qin Xu, et al. "Valproic acid (VPA) enhances cisplatin sensitivity of non-small cell lung cancer cells via HDAC2 mediated down regulation of ABCA1." Biological Chemistry 398, no. 7 (2017): 785–92. http://dx.doi.org/10.1515/hsz-2016-0307.

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Abstract 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. VPA treatment also decreased the phosphorylation of SP1, which can

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8

Besnard, Valérie, Yohei Matsuzaki, Jean Clark, et al. "Conditional deletion of Abca3 in alveolar type II cells alters surfactant homeostasis in newborn and adult mice." American Journal of Physiology-Lung Cellular and Molecular Physiology 298, no. 5 (2010): L646—L659. http://dx.doi.org/10.1152/ajplung.00409.2009.

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ATP-binding cassette A3 (ABCA3) is a lipid transport protein required for synthesis and storage of pulmonary surfactant in type II cells in the alveoli. Abca3 was conditionally deleted in respiratory epithelial cells ( Abca3Δ/Δ) in vivo. The majority of mice in which Abca3 was deleted in alveolar type II cells died shortly after birth from respiratory distress related to surfactant deficiency. Approximately 30% of the Abca3Δ/Δ mice survived after birth. Surviving Abca3Δ/Δ mice developed emphysema in the absence of significant pulmonary inflammation. Staining of lung tissue and mRNA isolated fr

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9

Yoshida, Kyoko, Yasuhiro Go, Itaru Kushima, et al. "Single-neuron and genetic correlates of autistic behavior in macaque." Science Advances 2, no. 9 (2016): e1600558. http://dx.doi.org/10.1126/sciadv.1600558.

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Atypical neurodevelopment in autism spectrum disorder is a mystery, defying explanation despite increasing attention. We report on a Japanese macaque that spontaneously exhibited autistic traits, namely, impaired social ability as well as restricted and repetitive behaviors, along with our single-neuron and genomic analyses. Its social ability was measured in a turn-taking task, where two monkeys monitor each other’s actions for adaptive behavioral planning. In its brain, the medial frontal neurons responding to others’ actions, abundant in the controls, were almost nonexistent. In its genes,

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10

Chen, Zhang-qun, Tarmo Annilo, Sergey Shulenin, and Michael Dean. "Three ATP-binding cassette transporter genes, Abca14 , Abca15 , and Abca16 , form a cluster on mouse Chromosome 7F3." Mammalian Genome 15, no. 5 (2004): 335–43. http://dx.doi.org/10.1007/s00335-004-2281-8.

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11

Pickard, Benjamin Simon, Maarten J. A. Van Den Bossche, Mary P. Malloy, et al. "Multiplex amplicon quantification screening the ABCA13 gene for copy number variation in schizophrenia and bipolar disorder." Psychiatric Genetics 22, no. 5 (2012): 269–70. http://dx.doi.org/10.1097/ypg.0b013e32835185b3.

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12

ZHAO, Li-Xia, Cheng-Ji ZHOU, Arowu TANAKA, et al. "Cloning, characterization and tissue distribution of the rat ATP-binding cassette (ABC) transporter ABC2/ABCA2." Biochemical Journal 350, no. 3 (2000): 865–72. http://dx.doi.org/10.1042/bj3500865.

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The ABC1 (ABCA) subfamily of the ATP-binding cassette (ABC) transporter superfamily has a structural feature that distinguishes it from other ABC transporters. Here we report the cloning, molecular characterization and tissue distribution of ABC2/ABCA2, which belongs to the ABC1 subfamily. Rat ABC2 is a protein of 2434 amino acids that has 44.5%, 40.0% and 40.8% identity with mouse ABC1/ABCA1, human ABC3/ABCA3 and human ABCR/ABCA4 respectively. Immunoblot analysis showed that proteins of 260 and 250kDa were detected in COS-1 cells transfected with ABC2 having a haemagglutinin tag, while no ba

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13

TOMIOKA, Maiko, Yoshinobu TODA, Junko KURISU, Yasuhisa KIMURA, Mineko KENGAKU, and Kazumitsu UEDA. "The Effects of Neurological Disorder-Related Codon Variations of ABCA13 on the Function of the ABC Protein." Bioscience, Biotechnology, and Biochemistry 76, no. 12 (2012): 2289–93. http://dx.doi.org/10.1271/bbb.120563.

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14

Iritani, Shuji, Youta Torii, Chikako Habuchi, et al. "The neuropathological investigation of the brain in a monkey model of autism spectrum disorder with ABCA13 deletion." International Journal of Developmental Neuroscience 71, no. 1 (2018): 130–39. http://dx.doi.org/10.1016/j.ijdevneu.2018.09.002.

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15

Quazi, Faraz, and Robert S. Molday. "Lipid transport by mammalian ABC proteins." Essays in Biochemistry 50 (September 7, 2011): 265–90. http://dx.doi.org/10.1042/bse0500265.

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ABC (ATP-binding cassette) proteins actively transport a wide variety of substrates, including peptides, amino acids, sugars, metals, drugs, vitamins and lipids, across extracellular and intracellular membranes. Of the 49 hum an ABC proteins, a significant number are known to mediate the extrusion of lipids from membranes or the flipping of membrane lipids across the bilayer to generate and maintain membrane lipid asymmetry. Typical lipid substrates include phospholipids, sterols, sphingolipids, bile acids and related lipid conjugates. Members of the ABCA subfamily of ABC transporters and othe

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16

Ma, Jie, Xi Lan, Ning Gao, et al. "A genetic association study between common variants in the ABCA13 gene and schizophrenia in a Han Chinese population." Psychiatry Research 209, no. 3 (2013): 748–49. http://dx.doi.org/10.1016/j.psychres.2013.07.013.

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17

Abraham, Ajay, Savitha Varatharajan, Sreeja Karathedath, et al. "ABC Transporter Expression in Acute Myeloid Leukemia: Association with in Vitro Cytotoxicity and Prognostic Markers." Blood 120, no. 21 (2012): 1438. http://dx.doi.org/10.1182/blood.v120.21.1438.1438.

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Abstract Abstract 1438 Combination chemotherapy in Acute Myeloid Leukemia (AML) can cure approximately 25% of patients but the majority is still non-responsive. Drug resistance and relapse are considered to be the major reasons for treatment failure. Though overexpression of ATP-Binding-Cassette (ABC) transporters including ABCB1 and ABCG2 have been shown associated with lower remission rates and survival in AML, the role of majority of ABC transporter genes are still unknown. Present study aims to determine the role of candidate ABC transporter RNA expression (that are shown to directly or in

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18

Buckley, P. F. "A Cytogenetic Abnormality and Rare Coding Variants Identify ABCA13 as a Candidate Gene in Schizophrenia, Bipolar Disorder, and Depression." Yearbook of Psychiatry and Applied Mental Health 2011 (January 2011): 356–58. http://dx.doi.org/10.1016/s0084-3970(10)79381-6.

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19

Degenhardt, Franziska, Lutz Priebe, Jana Strohmaier, et al. "No evidence for an involvement of copy number variation in ABCA13 in schizophrenia, bipolar disorder, or major depressive disorder." Psychiatric Genetics 23, no. 1 (2013): 45–46. http://dx.doi.org/10.1097/ypg.0b013e328358645b.

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20

Knight, Helen M., Benjamin S. Pickard, Alan Maclean, et al. "A Cytogenetic Abnormality and Rare Coding Variants Identify ABCA13 as a Candidate Gene in Schizophrenia, Bipolar Disorder, and Depression." American Journal of Human Genetics 85, no. 6 (2009): 833–46. http://dx.doi.org/10.1016/j.ajhg.2009.11.003.

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21

Li, Li, Rongwen Li, Alex Zacharek, et al. "ABCA1/ApoE/HDL Signaling Pathway Facilitates Myelination and Oligodendrogenesis after Stroke." International Journal of Molecular Sciences 21, no. 12 (2020): 4369. http://dx.doi.org/10.3390/ijms21124369.

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ATP-binding cassette transporter A1 (ABCA1) plays an important role in the regulation of apolipoprotein E (ApoE) and the biogenesis of high-density lipoprotein (HDL) cholesterol in the mammalian brain. Cholesterol is a major source for myelination. Here, we investigate whether ABCA1/ApoE/HDL contribute to myelin repair and oligodendrogenesis in the ischemic brain after stroke. Specific brain ABCA1-deficient (ABCA1-B/-B) and ABCA1-floxed (ABCA1fl/fl) control mice were subjected to permanent distal middle-cerebral-artery occlusion (dMCAo) and were intracerebrally administered (1) artificial mous

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22

Ban, Nobuhiro, Mayumi Sasaki, Hiromichi Sakai, Kazumitsu Ueda, and Nobuya Inagaki. "Cloning of ABCA17, a novel rodent sperm-specific ABC (ATP-binding cassette) transporter that regulates intracellular lipid metabolism." Biochemical Journal 389, no. 2 (2005): 577–85. http://dx.doi.org/10.1042/bj20050159.

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The A subclass of the ABC (ATP-binding cassette) transporter superfamily has a structural feature that distinguishes it from other ABC transporters, and is proposed to be involved in the transmembrane transport of endogenous lipids. Here we have cloned mouse and rat full-length cDNAs of ABCA17, a novel ABC transporter belonging to the A subclass. Mouse and rat ABCA17 proteins comprise 1733 and 1773 amino acid residues respectively, having 87.3% amino acid identity; mouse ABCA17 has amino acid identities of 55.3% and 36.7% with mouse ABCA3 and sea urchin ABCA respectively. RNA blot and quantita

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23

Chen, Jianhua, Raja Amjad Waheed Khan, Meng Wang, et al. "Association between the variability of the ABCA13 gene and the risk of major depressive disorder and schizophrenia in the Han Chinese population." World Journal of Biological Psychiatry 18, no. 7 (2016): 550–56. http://dx.doi.org/10.1080/15622975.2016.1245442.

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24

Steinbach, Daniel, Jean-Pierre Gillet, Axel Sauerbrey, et al. "Expression Profiling of ABC-Transporters in Childhood AML Reveals ABCA3 as a Potential Cause of Drug Resistance." Blood 104, no. 11 (2004): 1177. http://dx.doi.org/10.1182/blood.v104.11.1177.1177.

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Abstract A major issue in the treatment of acute myeloid leukemia (AML) is the development of resistance to chemotherapeutic drugs. While more than 80% of children with AML may initially achieve complete remission with current therapeutic regimens, a large number of these patients relapse with resistant disease; even with aggressive therapy, the event free survival rate is only about 50%. Several mechanisms of drug resistance have been identified. One of these is the overexpression of ATP-binding-cassette (ABC)-transporters that function as drug efflux pumps. The best characterized member of t

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25

Raducka-Jaszul, Olga, Karolina Wójtowicz, Aleksander F. Sikorski, Giovanna Chimini, Yannick Hamon, and Tomasz Trombik. "Molecular Diffusion of ABCA1 at the Cell Surface of Living Cells Assessed by svFCS." Membranes 11, no. 7 (2021): 498. http://dx.doi.org/10.3390/membranes11070498.

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Extensive studies showed the crucial role of ATP binding cassette (ABC) transporter ABCA1 in organizing the lipid microenvironment at the plasma membrane (PM) of living cells. However, the exact role of this protein in terms of lipid redistribution and lateral reorganization of the PM is still being discussed. Here, we took advantage of the spot variation fluorescence correlation spectroscopy (svFCS) to investigate the molecular dynamics of the ABCA1 expressed at the PM of Chinese hamster ovary cells (CHO-K1). We confirmed that this protein is strongly confined into the raft nanodomains. Next,

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26

Breuss, Martin W., Allen Mamerto, Tanya Renner, and Elizabeth R. Waters. "The Evolution of the Mammalian ABCA6-like Genes: Analysis of Phylogenetic, Expression, and Population Genetic Data Reveals Complex Evolutionary Histories." Genome Biology and Evolution 12, no. 11 (2020): 2093–106. http://dx.doi.org/10.1093/gbe/evaa179.

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Abstract ABC membrane transporters are a large and complex superfamily of ATP-binding cassette transporters that are present in all domains of life. Both their essential function and complexity are reflected by their retention across large expanses of organismal diversity and by the extensive expansion of individual members and subfamilies during evolutionary history. This expansion has resulted in the diverse ABCA transporter family that has in turn evolved into multiple subfamilies. Here, we focus on the ABCA6-like subfamily of ABCA transporters with the goal of understanding their evolution

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27

Al-Khuzaei, Saoud, Suzanne Broadgate, Charlotte R. Foster, et al. "An Overview of the Genetics of ABCA4 Retinopathies, an Evolving Story." Genes 12, no. 8 (2021): 1241. http://dx.doi.org/10.3390/genes12081241.

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Stargardt disease (STGD1) and ABCA4 retinopathies (ABCA4R) are caused by pathogenic variants in the ABCA4 gene inherited in an autosomal recessive manner. The gene encodes an importer flippase protein that prevents the build-up of vitamin A derivatives that are toxic to the RPE. Diagnosing ABCA4R is complex due to its phenotypic variability and the presence of other inherited retinal dystrophy phenocopies. ABCA4 is a large gene, comprising 50 exons; to date > 2000 variants have been described. These include missense, nonsense, splicing, structural, and deep intronic variants. Missense varia

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28

Tsyganov, M. M., M. K. Ibragimova, A. M. Pevzner, et al. "Gene expression analysis of ABC transporter family in breast tumors: relationship with chemotherapy effect and disease prognosis." Advances in Molecular Oncology 7, no. 2 (2020): 29–38. http://dx.doi.org/10.17650/2313-805x-2020-7-2-29-38.

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Background. One of the main reasons of the ineffectiveness of chemotherapy is still considered to be the formation of the multidrug resistance phenotype of the tumor due to the expression of energy-dependent proteins of ABC transporters. Our previous studies for some ABC genes have established that the expression of these genes correlates with the effectiveness of neoadjuvant chemotherapy (NAC). Some of the clinical studies indicate that ABC transporters can influence not only the formation of chemoresistance in the tumor, but also the progression, invasion and metastasis of the tumor node. Ob

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29

Wang, Xiao, Chunwei Cao, Yongshun Li, et al. "A harlequin ichthyosis pig model with a novel ABCA12 mutation can be rescued by acitretin treatment." Journal of Molecular Cell Biology 11, no. 12 (2019): 1029–41. http://dx.doi.org/10.1093/jmcb/mjz021.

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AbstractHarlequin ichthyosis (HI) is a severe genetic skin disorder and caused by mutation in the ATP-binding cassette A12 (ABCA12) gene. The retinoid administration has dramatically improved long-term survival of HI, but improvements are still needed. However, the ABCA12 null mice failed to respond to retinoid treatment, which impedes the development of novel cure strategies for HI. Here we generated an ethylnitrosourea mutagenic HI pig model (named Z9), which carries a novel deep intronic mutation IVS49-727 A&gt;G in the ABCA12 gene, resulting in abnormal mRNA splicing and truncated prot

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30

Onnée, Marion, Pascale Fanen, Isabelle Callebaut, and Alix de Becdelièvre. "Structure-Based Understanding of ABCA3 Variants." International Journal of Molecular Sciences 22, no. 19 (2021): 10282. http://dx.doi.org/10.3390/ijms221910282.

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ABCA3 is a crucial protein of pulmonary surfactant biosynthesis, associated with recessive pulmonary disorders such as neonatal respiratory distress and interstitial lung disease. Mutations are mostly private, and accurate interpretation of variants is mandatory for genetic counseling and patient care. We used 3D structure information to complete the set of available bioinformatics tools dedicated to medical decision. Using the experimental structure of human ABCA4, we modeled at atomic resolution the human ABCA3 3D structure including transmembrane domains (TMDs), nucleotide-binding domains (

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31

Quazi, Faraz, and Robert S. Molday. "Differential Phospholipid Substrates and Directional Transport by ATP-binding Cassette Proteins ABCA1, ABCA7, and ABCA4 and Disease-causing Mutants." Journal of Biological Chemistry 288, no. 48 (2013): 34414–26. http://dx.doi.org/10.1074/jbc.m113.508812.

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32

Wenzel, Jürgen J., Wolfgang E. Kaminski, Armin Piehler, Susanne Heimerl, Thomas Langmann, and Gerd Schmitz. "ABCA10, a novel cholesterol-regulated ABCA6-like ABC transporter." Biochemical and Biophysical Research Communications 306, no. 4 (2003): 1089–98. http://dx.doi.org/10.1016/s0006-291x(03)01097-0.

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33

Palmer, Megan A., Eleanor Smart, and Iain S. Haslam. "Localisation and regulation of cholesterol transporters in the human hair follicle: mapping changes across the hair cycle." Histochemistry and Cell Biology 155, no. 5 (2021): 529–45. http://dx.doi.org/10.1007/s00418-020-01957-8.

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AbstractCholesterol has long been suspected of influencing hair biology, with dysregulated homeostasis implicated in several disorders of hair growth and cycling. Cholesterol transport proteins play a vital role in the control of cellular cholesterol levels and compartmentalisation. This research aimed to determine the cellular localisation, transport capability and regulatory control of cholesterol transport proteins across the hair cycle. Immunofluorescence microscopy in human hair follicle sections revealed differential expression of ATP-binding cassette (ABC) transporters across the hair c

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34

Fu, Ying, Nigora Mukhamedova, Sally Ip, et al. "ABCA12 Regulates ABCA1-Dependent Cholesterol Efflux from Macrophages and the Development of Atherosclerosis." Cell Metabolism 18, no. 2 (2013): 225–38. http://dx.doi.org/10.1016/j.cmet.2013.07.003.

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35

Shah, Asad A., Carol Haynes, Damian M. Craig, et al. "Genetic Variants Associated with Vein Graft Stenosis after Coronary Artery Bypass Grafting." Heart Surgery Forum 18, no. 1 (2015): 001. http://dx.doi.org/10.1532/hsf.1214.

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<strong>Background:</strong> Vein graft stenosis after coronary artery bypass grafting (CABG) is common. Identifying genes associated with vein graft stenosis after CABG could reveal novel mechanisms of disease and discriminate patients at risk for graft failure. We hypothesized that genome-wide association would identify these genes.<br /><strong>Methods:</strong> We performed a genome-wide association study on a subset of patients presenting for cardiac catheterization for concern of ischemic heart disease, who also underwent CABG and subsequent coronary angiogr

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36

Мирошникова, В. В., А. А. Пантелеева, И. А. Побожева та ін. "Аdipose tissue expression of ABCA1 and ABCG1 transporters genes in obesity, metabolic syndrome and ischemic heart disease". Nauchno-prakticheskii zhurnal «Medicinskaia genetika», № 5(214) (29 травня 2020): 56–57. http://dx.doi.org/10.25557/2073-7998.2020.05.56-57.

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Ожирение ассоциировано с повышенным риском развития метаболических нарушений и сердечно-сосудистых заболеваний. В нашем исследовании мы показали, что экспрессия генов транспортеров холестерина ABCA1 и ABCG1 в жировой ткани может играть роль в развитии ожирения, дислипидемии, метаболического синдрома и ишемической болезни сердца (ИБС). Obesity is linked to increased cardiometabolic risk. Our study shows that cholesterol transporters ABCA1 and ABCG1 gene expression plays a role in development of obesity, dyslipidemia, metabolic syndrome and ischemic heart disease.

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37

Hayashi, Michi, Sumiko Abe-Dohmae, Mitsuyo Okazaki, Kazumitsu Ueda, and Shinji Yokoyama. "Heterogeneity of high density lipoprotein generated by ABCA1 and ABCA7." Journal of Lipid Research 46, no. 8 (2005): 1703–11. http://dx.doi.org/10.1194/jlr.m500092-jlr200.

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38

Wu, Bin, Masaki Ueno, Takashi Kusaka, et al. "Abcb1a and Abcb1b expression in senescence-accelerated mouse (SAM)." Neuroscience Letters 456, no. 1 (2009): 34–38. http://dx.doi.org/10.1016/j.neulet.2009.03.067.

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39

Moding, Everett James, Angela B. Hui, Yonina R. Murciano-Goroff, et al. "Noninvasive identification of emergent mutations following cytotoxic therapy for lung cancer." Journal of Clinical Oncology 39, no. 15_suppl (2021): 8533. http://dx.doi.org/10.1200/jco.2021.39.15_suppl.8533.

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8533 Background: Lung cancer is the leading cause of cancer death world-wide, and chemotherapy and radiation remain backbones of therapy for patients with locoregionally advanced and metastatic disease. However, the genetic mechanisms that mediate resistance to chemotherapy and radiation are largely unclear due to a lack of available tissue at the time of relapse. We hypothesized that circulating tumor DNA (ctDNA) analysis could identify emergent mutations after chemotherapy and radiation that may lead to treatment resistance. Methods: To identify emergent mutations at the time of progression

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40

Prades, C., I. Arnould, T. Annilo, et al. "The human ATP binding cassette gene ABCA13, located on chromosome 7p12.3, encodes a 5058 amino acid protein with an extracellular domain encoded in part by a 4.8-kb conserved exon." Cytogenetic and Genome Research 98, no. 2-3 (2002): 160–68. http://dx.doi.org/10.1159/000069852.

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41

Ghoneim, Ragia H., Emilienne T. Ngo Sock, Jean-Marc Lavoie, and Micheline Piquette-Miller. "Effect of a high-fat diet on the hepatic expression of nuclear receptors and their target genes: relevance to drug disposition." British Journal of Nutrition 113, no. 3 (2015): 507–16. http://dx.doi.org/10.1017/s0007114514003717.

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More than 1·4 billion individuals are overweight or obese worldwide. While complications often require therapeutic intervention, data regarding the impact of obesity on drug disposition are scarce. As the influence of diet-induced obesity on drug transport and metabolic pathways is currently unclear, the objective of the present study was to investigate the effect of high fat feeding for 13 weeks in female Sprague–Dawley rats on the hepatic expression of the nuclear receptors pregnane X receptor (PXR), constitutive androstane receptor (CAR), liver X receptor (LXR) and farnesoid X receptor (FXR

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42

Morales, Carlos R., Andrea L. Marat, Xiaoyan Ni, et al. "ATP-binding cassette transporters ABCA1, ABCA7, and ABCG1 in mouse spermatozoa." Biochemical and Biophysical Research Communications 376, no. 3 (2008): 472–77. http://dx.doi.org/10.1016/j.bbrc.2008.09.009.

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43

Schimanski, S., P. J. Wild, O. Treeck, et al. "Expression of the Lipid Transporters ABCA3 and ABCA1 is Diminished in Human Breast Cancer Tissue." Hormone and Metabolic Research 42, no. 02 (2009): 102–9. http://dx.doi.org/10.1055/s-0029-1241859.

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44

Sadler, Brooke, Charles Minard, Gabe Haller, et al. "Genotype Analysis of Adolescents with Heavy Menstrual Bleeding and Low Von Willebrand Activity - Report of a Multi-Center Study." Blood 136, Supplement 1 (2020): 19–20. http://dx.doi.org/10.1182/blood-2020-135886.

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Introduction: Low von Willebrand factor (VWF) activity is prevalent in adolescents with heavy menstrual bleeding (HMB). There is a need to better genetically characterize these patients and improve our understanding of the pathophysiology of their bleeding risk. Methods: One of the main objectives of this multi-center, single arm, observational cohort study was to genotype adolescent females with HMB and low VWF (≥ 30 and ≤ 50 IU/dL) by means of whole exome sequencing (WES), to identify variants throughout the exome that may modulate risk for bleeding. Post-menarchal females &lt; 21 years

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45

Abualsunun, Walaa Ali, and Micheline Piquette-Miller. "STAT3 is involved in IL-6-Mediated Downregulation of Hepatic Transporters in Mice." Journal of Pharmacy & Pharmaceutical Sciences 21, no. 1s (2018): 325s—334s. http://dx.doi.org/10.18433/jpps30241.

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Interleukin (IL)-6 decreases hepatic expression of numerous transporters. Although IL-6 signaling occurs through STAT3, the extent of the involvement of the STAT3 signaling pathway has not been elucidated. PURPOSE: Our objective was to investigate whether IL-6-mediated effects occur through STAT3, and whether PXR plays a role in this regulation. METHOD: PXR null (-/-) or wild-type (+/+) male mice were pre-dosed with a selective STAT3 inhibitor S3I-201 (7.5 mg/kg ip) or vehicle (n=5-8/group) 30 minutes before receiving a single dose of IL-6 (1 µg ip) or saline. Animals were sacrificed after 6 h

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Abe-Dohmae, S., Y. Ikeda, M. Hayashi, K. Ueda, and S. Yokoyama. "2P-0447 ABCA7 expression induces apolipoprotein-mediated HDL, generation in the absence of ABCA1." Atherosclerosis Supplements 4, no. 2 (2003): 138. http://dx.doi.org/10.1016/s1567-5688(03)90589-7.

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Le Hir, Rozenn, Clément Sorin, Dipankar Chakraborti, et al. "ABCG9, ABCG11 and ABCG14 ABC transporters are required for vascular development in Arabidopsis." Plant Journal 76, no. 5 (2013): 811–24. http://dx.doi.org/10.1111/tpj.12334.

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Wang, Yutong, and John F. Oram. "Unsaturated Fatty Acids Phosphorylate and Destabilize ABCA1 through a Phospholipase D2 Pathway." Journal of Biological Chemistry 280, no. 43 (2005): 35896–903. http://dx.doi.org/10.1074/jbc.m506210200.

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Abnormal high density lipoprotein (HDL) metabolism among patients with diabetes and insulin resistance may contribute to their increased risk of atherosclerosis. ATP-binding cassette transporter ABCA1 mediates the transport of cholesterol and phospholipids from cells to HDL apolipoproteins and thus modulates HDL levels and atherogenesis. Unsaturated fatty acids, which are elevated in diabetes, impair the ABCA1 pathway in cultured cells by destabilizing ABCA1 protein. Here we examined the cellular pathway that mediates the ABCA1 destabilizing effects of fatty acids. The long-chain acyl-CoA synt

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Rezaeian, Iman, Eliseos J. Mucaki, Katherina Baranova, et al. "Predicting Outcomes of Hormone and Chemotherapy in the Molecular Taxonomy of Breast Cancer International Consortium (METABRIC) Study by Biochemically-inspired Machine Learning." F1000Research 5 (January 27, 2017): 2124. http://dx.doi.org/10.12688/f1000research.9417.2.

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Genomic aberrations and gene expression-defined subtypes in the large METABRIC patient cohort have been used to stratify and predict survival. The present study used normalized gene expression signatures of paclitaxel drug response to predict outcome for different survival times in METABRIC patients receiving hormone (HT) and, in some cases, chemotherapy (CT) agents. This machine learning method, which distinguishes sensitivity vs. resistance in breast cancer cell lines and validates predictions in patients; was also used to derive gene signatures of other HT (tamoxifen) and CT agents (methotr

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Mucaki, Eliseos J., Katherina Baranova, Huy Q. Pham, et al. "Predicting Outcomes of Hormone and Chemotherapy in the Molecular Taxonomy of Breast Cancer International Consortium (METABRIC) Study by Biochemically-inspired Machine Learning." F1000Research 5 (May 12, 2017): 2124. http://dx.doi.org/10.12688/f1000research.9417.3.

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Genomic aberrations and gene expression-defined subtypes in the large METABRIC patient cohort have been used to stratify and predict survival. The present study used normalized gene expression signatures of paclitaxel drug response to predict outcome for different survival times in METABRIC patients receiving hormone (HT) and, in some cases, chemotherapy (CT) agents. This machine learning method, which distinguishes sensitivity vs. resistance in breast cancer cell lines and validates predictions in patients; was also used to derive gene signatures of other HT (tamoxifen) and CT agents (methotr

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