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  1. Article ; Online: Mutations causing premature termination codons discriminate and generate cellular and clinical variability in HHT.

    Bernabéu-Herrero, Maria E / Patel, Dilipkumar / Bielowka, Adrianna / Zhu, JiaYi / Jain, Kinshuk / Mackay, Ian Stuart / Chaves Guererro, Patricia / Emanuelli, Giulia / Jovine, Luca / Noseda, Michela / Marciniak, Stefan J / Aldred, Micheala A / Shovlin, Claire L

    Blood

    2024  

    Abstract: For monogenic diseases caused by pathogenic loss-of-function DNA variants, attention focuses on dysregulated gene-specific pathways, usually considering molecular subtypes together within causal genes. To better understand phenotypic variability in ... ...

    Abstract For monogenic diseases caused by pathogenic loss-of-function DNA variants, attention focuses on dysregulated gene-specific pathways, usually considering molecular subtypes together within causal genes. To better understand phenotypic variability in hereditary hemorrhagic telangiectasia (HHT), we sub-categorized pathogenic DNA variants in ENG/endoglin, ACVRL1/ALK1, and SMAD4 if they generated premature termination codons (PTCs) subject to nonsense mediated decay. In three pre-phenotyped patient cohorts, a PTC-based classification system explained some previously puzzling hemorrhage variability. In blood outgrowth endothelial cells (BOECs) derived from ACVRL1+/PTC, ENG+/PTC, and SMAD4+/PTC patients, PTC-containing RNA transcripts persisted at low levels (8-23% expected, varying between replicate cultures); genes differentially expressed to Bonferroni p<0.05 in HHT+/PTC BOECs clustered significantly only to generic protein terms ('isopeptide-bond'/'ubiquitin-like conjugation') and pulse chase experiments detected subtle protein maturation differences, but no evidence for PTC-truncated protein. BOECs displaying highest PTC persistence were discriminated in unsupervised hierarchical clustering of 'invariant' housekeeper genes, with patterns compatible with higher cellular stress in BOECs with >11% PTC persistence. To test directionality, we used a HeLa reporter system to detect induction of activating transcription factor (ATF)4 which controls expression of stress-adaptive genes, and showed that ENG Q436X but not ENG R93X directly induced ATF4. AlphaFold accurately modelled relevant ENG domains, with AlphaMissense suggesting that readthrough substitutions would be benign for ENG R93X and other "less rare" ENG nonsense variants, but more damaging for Q436X. We conclude that PTCs should be distinguished from other loss-of-function variants, PTC transcript levels increase in stressed cells, and readthrough proteins and mechanisms provide promising research avenues.
    Language English
    Publishing date 2024-03-08
    Publishing country United States
    Document type Journal Article
    ZDB-ID 80069-7
    ISSN 1528-0020 ; 0006-4971
    ISSN (online) 1528-0020
    ISSN 0006-4971
    DOI 10.1182/blood.2023021777
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Book ; Conference proceedings: Business object design and implementation III

    Patel, Dilipkumar

    OOPSLA '99 workshop proceedings, 2 November 1999, Denver, Colorado, USA

    1999  

    Institution OOPSLA
    Workshop on Business Object Design and Implementation
    Event/congress OOPSLA '99 (14, 1999.11.01-05, DenverColo.) ; Workshop on Business Object Design and Implementation (3, 1999.11.02, DenverColo.)
    Author's details D. Patel ... (eds.)
    Language English
    Size VI, 179 S, Ill
    Publisher Springer
    Publishing place London u.a.
    Document type Book ; Conference proceedings
    Note Literaturangaben
    ISBN 1852332174 ; 9781852332174
    Database Former special subject collection: coastal and deep sea fishing

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  3. Book ; Conference proceedings: Business object design and implementation III

    Patel, Dilipkumar

    OOPSLA '99 workshop proceedings, 2 November 1999, Denver, Colorado, USA

    1999  

    Institution OOPSLA
    Workshop on Business Object Design and Implementation
    Event/congress OOPSLA '99 (14, 1999.11.01-05, DenverColo.) ; Workshop on Business Object Design and Implementation (3, 1999.11.02, DenverColo.)
    Author's details D. Patel ... (eds.)
    Language English
    Size VI, 179 S, Ill
    Publisher Springer
    Publishing place London u.a.
    Document type Book ; Conference proceedings
    Note Literaturangaben
    ISBN 1852332174 ; 9781852332174
    Database Library catalogue of the German National Library of Science and Technology (TIB), Hannover

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  4. Article ; Online: Validation of a QuEChERS-based gas chromatographic method for analysis of pesticide residues in Cassia angustifolia (senna).

    Tripathy, Vandana / Saha, Ajoy / Patel, Dilipkumar J / Basak, B B / Shah, Paresh G / Kumar, Jitendra

    Journal of environmental science and health. Part. B, Pesticides, food contaminants, and agricultural wastes

    2016  Volume 51, Issue 8, Page(s) 508–518

    Abstract: A simple multi-residue method based on modified QuEChERS (Quick, Easy, Cheap, Effective, Rugged and Safe) approach was established for the determination of 17 organochlorine (OC), 15 organophosphorous (OP) and 7 synthetic pyrethroid (SP) pesticides in an ...

    Abstract A simple multi-residue method based on modified QuEChERS (Quick, Easy, Cheap, Effective, Rugged and Safe) approach was established for the determination of 17 organochlorine (OC), 15 organophosphorous (OP) and 7 synthetic pyrethroid (SP) pesticides in an economically important medicinal plant of India, Senna (Cassia angustifolia), by gas chromatography coupled to electron capture and flame thermionic detectors (GC/ECD/FTD) and confirmation of residues was done on gas chromatograph coupled with mass spectrometry (GC-MS). The developed method was validated by testing the following parameters: linearity, limit of detection (LOD), limit of quantification (LOQ), matrix effect, accuracy-precision and measurement uncertainty; the validation study clearly demonstrated the suitability of the method for its intended application. All pesticides showed good linearity in the range 0.01-1.0 μg mL(-1) for OCs and OPs and 0.05-2.5 μg mL(-1) for SPs with correlation coefficients higher than 0.98. The method gave good recoveries for most of the pesticides (70-120%) with intra-day and inter-day precision < 20% in most of the cases. The limits of detection varied from 0.003 to 0.03 mg kg(-1), and the LOQs were determined as 0.01-0.049 mg kg(-1). The expanded uncertainties were <30%, which was distinctively less than a maximum default value of ±50%. The proposed method was successfully applied to determine pesticide residues in 12 commercial market samples obtained from different locations in India.
    MeSH term(s) Gas Chromatography-Mass Spectrometry/methods ; India ; Limit of Detection ; Mass Spectrometry ; Pesticide Residues/analysis ; Pesticides/analysis ; Senna Extract/analysis ; Senna Plant/chemistry
    Chemical Substances Pesticide Residues ; Pesticides ; Senna Extract (8013-11-4)
    Language English
    Publishing date 2016-08-02
    Publishing country England
    Document type Journal Article ; Validation Studies
    ZDB-ID 197072-0
    ISSN 1532-4109 ; 0360-1234
    ISSN (online) 1532-4109
    ISSN 0360-1234
    DOI 10.1080/03601234.2016.1170544
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article ; Online: Mutational and phenotypic characterization of hereditary hemorrhagic telangiectasia.

    Shovlin, Claire L / Simeoni, Ilenia / Downes, Kate / Frazer, Zoe C / Megy, Karyn / Bernabeu-Herrero, Maria E / Shurr, Abigail / Brimley, Jennifer / Patel, Dilipkumar / Kell, Loren / Stephens, Jonathan / Turbin, Isobel G / Aldred, Micheala A / Penkett, Christopher J / Ouwehand, Willem H / Jovine, Luca / Turro, Ernest

    Blood

    2020  Volume 136, Issue 17, Page(s) 1907–1918

    Abstract: Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular dysplasia. Care delivery for HHT patients is impeded by the need for laborious, repeated phenotyping and gaps in knowledge regarding the relationships between causal DNA ... ...

    Abstract Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular dysplasia. Care delivery for HHT patients is impeded by the need for laborious, repeated phenotyping and gaps in knowledge regarding the relationships between causal DNA variants in ENG, ACVRL1, SMAD4 and GDF2, and clinical manifestations. To address this, we analyzed DNA samples from 183 previously uncharacterized, unrelated HHT and suspected HHT cases using the ThromboGenomics high-throughput sequencing platform. We identified 127 rare variants across 168 heterozygous genotypes. Applying modified American College of Medical Genetics and Genomics Guidelines, 106 variants were classified as pathogenic/likely pathogenic and 21 as nonpathogenic (variant of uncertain significance/benign). Unlike the protein products of ACVRL1 and SMAD4, the extracellular ENG amino acids are not strongly conserved. Our inferences of the functional consequences of causal variants in ENG were therefore informed by the crystal structure of endoglin. We then compared the accuracy of predictions of the causal gene blinded to the genetic data using 2 approaches: subjective clinical predictions and statistical predictions based on 8 Human Phenotype Ontology terms. Both approaches had some predictive power, but they were insufficiently accurate to be used clinically, without genetic testing. The distributions of red cell indices differed by causal gene but not sufficiently for clinical use in isolation from genetic data. We conclude that parallel sequencing of the 4 known HHT genes, multidisciplinary team review of variant calls in the context of detailed clinical information, and statistical and structural modeling improve the prognostication and treatment of HHT.
    MeSH term(s) Activin Receptors, Type II/chemistry ; Activin Receptors, Type II/genetics ; Cohort Studies ; DNA Mutational Analysis/methods ; Endoglin/chemistry ; Endoglin/genetics ; Female ; Genetic Association Studies/methods ; Genetic Predisposition to Disease ; Genetic Testing/methods ; Genomics/methods ; Growth Differentiation Factor 2/chemistry ; Growth Differentiation Factor 2/genetics ; Heterozygote ; High-Throughput Nucleotide Sequencing ; Humans ; Male ; Models, Molecular ; Mutation ; Phenotype ; Retrospective Studies ; Sequence Analysis, DNA/methods ; Smad4 Protein/chemistry ; Smad4 Protein/genetics ; Telangiectasia, Hereditary Hemorrhagic/epidemiology ; Telangiectasia, Hereditary Hemorrhagic/genetics ; Telangiectasia, Hereditary Hemorrhagic/pathology
    Chemical Substances ENG protein, human ; Endoglin ; GDF2 protein, human ; Growth Differentiation Factor 2 ; SMAD4 protein, human ; Smad4 Protein ; ACVRL1 protein, human (EC 2.7.11.30) ; Activin Receptors, Type II (EC 2.7.11.30)
    Language English
    Publishing date 2020-06-20
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 80069-7
    ISSN 1528-0020 ; 0006-4971
    ISSN (online) 1528-0020
    ISSN 0006-4971
    DOI 10.1182/blood.2019004560
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  6. Article ; Online: Degradation of LDLR protein mediated by 'gain of function' PCSK9 mutants in normal and ARH cells.

    Fasano, Tommaso / Sun, Xi-Ming / Patel, Dilipkumar D / Soutar, Anne K

    Atherosclerosis

    2008  Volume 203, Issue 1, Page(s) 166–171

    Abstract: Dominant gain-of-function mutations in proprotein convertase subtilisin kexin type 9 (PCSK9) cause familial hypercholesterolaemia (FH) and result in accelerated atherosclerosis and premature coronary heart disease. It is believed that PCSK9 binds to LDL- ... ...

    Abstract Dominant gain-of-function mutations in proprotein convertase subtilisin kexin type 9 (PCSK9) cause familial hypercholesterolaemia (FH) and result in accelerated atherosclerosis and premature coronary heart disease. It is believed that PCSK9 binds to LDL-receptor (LDLR) protein and prevents its recycling to the cell surface; gain-of-function PCSK9 mutants enhance LDLR degradation. Several new variants of PCSK9 have been identified, but their effect on PCSK9 activity has not been determined. We describe a new procedure for assessing the activity of four putative gain-of-function mutations identified in FH patients (D129N, D374H, N425S, R496W). All four mutant proteins were secreted normally from transfected HEK293T cells. Immortalized lymphocytes from normolipaemic controls were incubated with conditioned medium from transfected cells and cell-surface LDLR protein was determined by FACS. D374H was as potent as D374Y in reducing cell-surface LDLR, while the other three mutations were more potent than wild type, but less so than the D374 mutants; this correlated with total serum cholesterol in the patients. Substitution of different amino acids at 374 showed that aspartate in this position was critical; even glutamate at residue 374 increased LDLR degradation. When the assay was carried out with ARH-negative lymphocytes that are unable to internalise the LDLR, D374Y-PCSK9 was able to reduce cell-surface LDLR by 35%, compared with approximately 70% for normal lymphocytes. Thus, PCSK9-mediated LDLR degradation is not entirely dependent on ARH function. We propose a novel ARH-independent pathway for PCSK9 activity on LDLR.
    MeSH term(s) Adaptor Proteins, Signal Transducing/metabolism ; Adaptor Proteins, Signal Transducing/physiology ; Catalysis ; Cell Line ; Cell Separation ; Flow Cytometry ; Glutamic Acid/metabolism ; Humans ; Lymphocytes/metabolism ; Models, Biological ; Mutagenesis ; Mutation ; Proprotein Convertase 9 ; Proprotein Convertases ; Receptors, LDL/metabolism ; Serine Endopeptidases/genetics ; Serine Endopeptidases/physiology ; Time Factors ; Transfection
    Chemical Substances Adaptor Proteins, Signal Transducing ; LDLRAP1 protein, human ; Receptors, LDL ; Glutamic Acid (3KX376GY7L) ; PCSK9 protein, human (EC 3.4.21.-) ; Proprotein Convertase 9 (EC 3.4.21.-) ; Proprotein Convertases (EC 3.4.21.-) ; Serine Endopeptidases (EC 3.4.21.-)
    Language English
    Publishing date 2008-11-06
    Publishing country Ireland
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 80061-2
    ISSN 1879-1484 ; 0021-9150
    ISSN (online) 1879-1484
    ISSN 0021-9150
    DOI 10.1016/j.atherosclerosis.2008.10.027
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  7. Article ; Online: Narrative Performance Level Assignments at Initial Entrustment and Graduation: Integrating EPAs and Milestones to Improve Learner Assessment.

    Schumacher, Daniel J / Schwartz, Alan / Zenel, Joseph A / Paradise Black, Nicole / Ponitz, Keith / Blair, Robyn / Traba, Christin M / Poynter, Sue / King, Beth / Englander, Robert / Rosenberg, Adam / Patel, Dilipkumar / Smith-King, Candace / O'Connor, Meghan / Gonzalez Del Rey, Javier / Lavoie, Suzanne / Borman-Shoap, Emily / Carraccio, Carol

    Academic medicine : journal of the Association of American Medical Colleges

    2020  Volume 95, Issue 11, Page(s) 1736–1744

    Abstract: Purpose: To determine which narrative performance level for each general pediatrics entrustable professional activity (EPA) reflects the minimum level clinical competency committees (CCCs) felt should be associated with graduation as well as initial ... ...

    Abstract Purpose: To determine which narrative performance level for each general pediatrics entrustable professional activity (EPA) reflects the minimum level clinical competency committees (CCCs) felt should be associated with graduation as well as initial entrustment and compare expected narrative performance levels (ENPLs) for each EPA with actual narrative performance levels (ANPLs) assigned to residents at initial entrustment.
    Method: A series of 5 narratives, corresponding to the 5 milestone performance levels, were developed for each of the 17 general pediatrics EPAs. In academic year (AY) 2015-2016, the CCCs at 22 Association of Pediatric Program Directors Longitudinal Educational Assessment Research Network member sites reported ENPLs for initial entrustment and at time of graduation. From AYs 2015-2016 to 2017-2018, programs reported ANPLs for initial entrustment decisions. ENPLs and ANPLs were compared using a logistic mixed effects model.
    Results: ENPLs for graduation and entrustment were most often level 3 (competent) followed by level 4 (proficient). For 8 EPAs, the ENPLs for graduation and entrustment were the same. For the remaining 9, some programs would entrust residents before graduation or graduate them before entrusting them. There were 4,266 supervision level reports for initial entrustment for which an ANPL was provided. ANPLs that were lower than the ENPLs were significantly more likely to be assigned to the medical home-well child (OR = 0.39; 95% CI: 0.26-0.57), transition to adult care (OR = 0.43; 95% CI: 0.19-0.95), behavioral or mental health (OR = 0.36; 95% CI: 0.18-0.71), make referrals (OR = 0.31; 95% CI: 0.17-0.55), lead a team (OR = 0.34; 95% CI: 0.22-0.52), and handovers (OR = 0.18; 95% CI: 0.09-0.36) EPAs.
    Conclusions: CCCs reported lower ENPLs for graduation than for entrustment for 5 EPAs, possibly indicating curricular gaps that milestones and EPAs could help identify.
    MeSH term(s) Clinical Competence ; Committee Membership ; Competency-Based Education ; Humans ; Internship and Residency ; Narration ; Pediatrics/education ; Professional Competence ; Reference Standards ; Trust
    Language English
    Publishing date 2020-03-16
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 96192-9
    ISSN 1938-808X ; 1040-2446
    ISSN (online) 1938-808X
    ISSN 1040-2446
    DOI 10.1097/ACM.0000000000003300
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  8. Article: Adaptor protein disabled-2 modulates low density lipoprotein receptor synthesis in fibroblasts from patients with autosomal recessive hypercholesterolaemia.

    Eden, Emily R / Sun, Xi-Ming / Patel, Dilipkumar D / Soutar, Anne K

    Human molecular genetics

    2007  Volume 16, Issue 22, Page(s) 2751–2759

    Abstract: Autosomal recessive hypercholesterolaemia (ARH), characterized clinically by severe inherited hypercholesterolaemia, is caused by recessive null mutations in LDLRAP1 (formerly ARH). Immortalized lymphocytes and monocyte-macrophages, and presumably ... ...

    Abstract Autosomal recessive hypercholesterolaemia (ARH), characterized clinically by severe inherited hypercholesterolaemia, is caused by recessive null mutations in LDLRAP1 (formerly ARH). Immortalized lymphocytes and monocyte-macrophages, and presumably hepatocytes, from ARH patients fail to take up and degrade plasma low density lipoproteins (LDL) because they lack LDLRAP1, a cargo-specific adaptor required for clathrin-mediated endocytosis of the LDL receptor. Surprisingly, LDL-receptor function is normal in ARH patients' skin fibroblasts in culture. Disabled-2 (Dab2) has been implicated previously in clathrin-mediated internalization of LDL-receptor family members, and we show here that Dab2 is highly expressed in skin fibroblasts, but not in lymphocytes. SiRNA-depletion of Dab2 profoundly reduced LDL-receptor activity in ARH fibroblasts as a result of profound reduction in LDL-receptor protein, but not mRNA; heterologous expression of murine Dab2 reversed this effect. In contrast, LDL-receptor protein content was unchanged in Dab-2-depleted control cells. Incorporation of 35S-labelled amino acids into LDL receptor protein revealed a corresponding apparent reduction in accumulation of newly synthesized LDL-receptor protein on depletion of Dab2 in ARH, but not in control, cells. This reduction in LDL-receptor protein in Dab2-depleted ARH cells could not be reversed by treatment of the cells with proteasomal or lysosomal inhibitors. Thus, we propose a novel role for Dab2 in ARH fibroblasts, where it is apparently required to allow normal translation of LDL receptor mRNA.
    MeSH term(s) Adaptor Protein Complex 2/genetics ; Adaptor Protein Complex 2/metabolism ; Adaptor Proteins, Signal Transducing/genetics ; Adaptor Proteins, Signal Transducing/metabolism ; Animals ; CHO Cells ; Case-Control Studies ; Cricetinae ; Cricetulus ; Endocytosis ; Fibroblasts/metabolism ; Fibroblasts/pathology ; Genes, Recessive ; Humans ; Hyperlipoproteinemia Type II/genetics ; Lymphocytes/metabolism ; RNA, Messenger/genetics ; RNA, Small Interfering ; Receptors, LDL/genetics ; Receptors, LDL/metabolism ; Skin/metabolism ; Skin/pathology ; Transcription, Genetic
    Chemical Substances Adaptor Protein Complex 2 ; Adaptor Proteins, Signal Transducing ; LDLRAP1 protein, human ; RNA, Messenger ; RNA, Small Interfering ; Receptors, LDL
    Language English
    Publishing date 2007-08-29
    Publishing country England
    Document type Comparative Study ; Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 1108742-0
    ISSN 1460-2083 ; 0964-6906
    ISSN (online) 1460-2083
    ISSN 0964-6906
    DOI 10.1093/hmg/ddm232
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  9. Article: Pseudotetraploid clone with structural chromosomal rearrangements in a chondromyxoid fibroma: a case report.

    Liu, Jinglan / Ownbey, Robert T / Boc, Steven F / Pezanowski, Donna M / Patel, Dilipkumar M / Sadri, Soorena / Vincent, Gregory A / de Chadarévian, Jean-Pierre

    Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society

    2013  Volume 16, Issue 3, Page(s) 201–205

    Abstract: Chondromyxoid fibroma is a rare benign tumor accounting for 1-2% of primary bone tumors. Most of the patients are young males in the 2nd and 3rd decades of life. Metaphyses of long bones are predominantly affected. The histology of this tumor is well ... ...

    Abstract Chondromyxoid fibroma is a rare benign tumor accounting for 1-2% of primary bone tumors. Most of the patients are young males in the 2nd and 3rd decades of life. Metaphyses of long bones are predominantly affected. The histology of this tumor is well established, but its genetic mechanism remains poorly characterized. To our knowledge, only 22 abnormal cytogenetic analyses have been reported, and all contained diploidy or near-diploidy karyograms as their primary event, and inv(6)(p25)(q13) and rearrangements involving regions 6p23-25, 6q12-15, and 6q23-27 constituted a recurrent observation. In this report, a pseudotetraploidy tumor clone with multiple numerical and structural aberrations involving 6p23 as well as other chromosomal loci was identified in a chondromyxoid fibroma from the metaphysis of the left fibula of an 18-year-old male, which has not been reported. The finding may relate to the atypical-looking large cells often seen in this benign tumor.
    MeSH term(s) Abnormal Karyotype ; Adolescent ; Bone Neoplasms/genetics ; Bone Neoplasms/pathology ; Chromosome Aberrations ; Chromosomes, Human, Pair 6/genetics ; Cytogenetic Analysis ; Fibroma/genetics ; Fibroma/pathology ; Fibula/pathology ; Humans ; In Situ Hybridization, Fluorescence ; Male
    Language English
    Publishing date 2013-05
    Publishing country United States
    Document type Case Reports ; Journal Article
    ZDB-ID 1463498-3
    ISSN 1615-5742 ; 1093-5266
    ISSN (online) 1615-5742
    ISSN 1093-5266
    DOI 10.2350/12-01-1145-CR.1
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  10. Article ; Online: Low Dose Iron Treatments Induce a DNA Damage Response in Human Endothelial Cells within Minutes.

    Mollet, Inês G / Patel, Dilipkumar / Govani, Fatima S / Giess, Adam / Paschalaki, Koralia / Periyasamy, Manikandan / Lidington, Elaine C / Mason, Justin C / Jones, Michael D / Game, Laurence / Ali, Simak / Shovlin, Claire L

    PloS one

    2016  Volume 11, Issue 2, Page(s) e0147990

    Abstract: Background: Spontaneous reports from patients able to report vascular sequelae in real time, and recognition that serum non transferrin bound iron may reach or exceed 10μmol/L in the blood stream after iron tablets or infusions, led us to hypothesize ... ...

    Abstract Background: Spontaneous reports from patients able to report vascular sequelae in real time, and recognition that serum non transferrin bound iron may reach or exceed 10μmol/L in the blood stream after iron tablets or infusions, led us to hypothesize that conventional iron treatments may provoke acute vascular injury. This prompted us to examine whether a phenotype could be observed in normal human endothelial cells treated with low dose iron.
    Methodology: Confluent primary human endothelial cells (EC) were treated with filter-sterilized iron (II) citrate or fresh media for RNA sequencing and validation studies. RNA transcript profiles were evaluated using directional RNA sequencing with no pre-specification of target sequences. Alignments were counted for exons and junctions of the gene strand only, blinded to treatment types.
    Principal findings: Rapid changes in RNA transcript profiles were observed in endothelial cells treated with 10μmol/L iron (II) citrate, compared to media-treated cells. Clustering for Gene Ontology (GO) performed on all differentially expressed genes revealed significant differences in biological process terms between iron and media-treated EC, whereas 10 sets of an equivalent number of randomly selected genes from the respective EC gene datasets showed no significant differences in any GO terms. After 1 hour, differentially expressed genes clustered to vesicle mediated transport, protein catabolism, and cell cycle (Benjamini p = 0.0016, 0.0024 and 0.0032 respectively), and by 6 hours, to cellular response to DNA damage stimulus most significantly through DNA repair genes FANCG, BLM, and H2AFX. Comet assays demonstrated that 10μM iron treatment elicited DNA damage within 1 hour. This was accompanied by a brisk DNA damage response pulse, as ascertained by the development of DNA damage response (DDR) foci, and p53 stabilization.
    Significance: These data suggest that low dose iron treatments are sufficient to modify the vascular endothelium, and induce a DNA damage response.
    MeSH term(s) Cell Cycle ; Citrates/administration & dosage ; Cluster Analysis ; Comet Assay ; DNA Damage/drug effects ; Dose-Response Relationship, Drug ; Endothelial Cells/cytology ; Endothelial Cells/drug effects ; Exons ; Gene Expression Profiling ; Gene Expression Regulation ; Histones/metabolism ; Human Umbilical Vein Endothelial Cells ; Humans ; Iron/administration & dosage ; Microcirculation ; Phenotype ; Phosphorylation ; Sequence Analysis, RNA ; Tumor Suppressor Protein p53/metabolism
    Chemical Substances Citrates ; H2AX protein, human ; Histones ; TP53 protein, human ; Tumor Suppressor Protein p53 ; Iron (E1UOL152H7)
    Language English
    Publishing date 2016-02-11
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2267670-3
    ISSN 1932-6203 ; 1932-6203
    ISSN (online) 1932-6203
    ISSN 1932-6203
    DOI 10.1371/journal.pone.0147990
    Database MEDical Literature Analysis and Retrieval System OnLINE

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