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Dexmedetomidine FDA Label
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URL: http://www.guidetopharmacology.org Nucleic Acids Res. 2015 Oct 12. pii: gkv1037. The IUPHAR/BPS Guide to PHARMACOLOGY in 2016: towards curated quantitative interactions between 1300 protein targets and 6000 ligands. (Ligand id: 2509).
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Sildenafil FDA Label
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Trusted, scientifically sound profiles of drug programs, clinical trials, safety reports, and company deals, written by scientists. Springer. 2015. Adis Insight (drug id 800027118)
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Compound Heterozygous CHAT Gene Mutations of a Large Deletion and a Missense Variant in a Chinese Patient With Severe Congenital Myasthenic Syndrome With Episodic Apnea.Front Pharmacol. 2019 Mar 12;10:259. doi: 10.3389/fphar.2019.00259. eCollection 2019.
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Allogeneic mesenchymal stromal cells: Novel therapeutic option for mutated FLNA-associated respiratory failure in the pediatric setting.Pediatr Pulmonol. 2020 Jan;55(1):190-197. doi: 10.1002/ppul.24497. Epub 2019 Aug 29.
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Young-onset rapidly progressive ALS associated with heterozygous FUS mutation.Amyotroph Lateral Scler Frontotemporal Degener. 2017 Aug;18(5-6):451-453. doi: 10.1080/21678421.2017.1299762. Epub 2017 Mar 13.
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De novo variant in SCN4A causes neonatal sodium channel myotonia with general muscle stiffness and respiratory failure.Neuromuscul Disord. 2019 Nov;29(11):907-909. doi: 10.1016/j.nmd.2019.09.001. Epub 2019 Sep 13.
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Intrathecal administration of nusinersen in adolescent and adult SMA type 2 and 3 patients.J Neurol. 2019 Jan;266(1):183-194. doi: 10.1007/s00415-018-9124-0. Epub 2018 Nov 20.
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Respiratory failure triggered by cholinesterase inhibitors may involve activation of a reflex sensory pathway by acetylcholine spillover.Toxicology. 2019 Aug 1;424:152232. doi: 10.1016/j.tox.2019.06.003. Epub 2019 Jun 5.
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Surgical treatment of intramedullary ependymomas.Neurol Neurochir Pol. 2017 Nov-Dec;51(6):439-445. doi: 10.1016/j.pjnns.2017.06.008. Epub 2017 Jul 8.
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Apneic crises: a clue for MECP2 testing in severe neonatal hypotonia-respiratory failure.Eur J Paediatr Neurol. 2012 Nov;16(6):744-8. doi: 10.1016/j.ejpn.2012.03.001. Epub 2012 Apr 11.
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Is early detection of late-onset Pompe disease a pneumologist's affair? A lesson from an Italian screening study.Orphanet J Rare Dis. 2019 Mar 4;14(1):62. doi: 10.1186/s13023-019-1037-1.
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Two German kindreds with familial amyotrophic lateral sclerosis due to TARDBP mutations.Arch Neurol. 2008 Sep;65(9):1185-9. doi: 10.1001/archneur.65.9.1185.
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Severe respiratory phenotype caused by a de novo Arg528Gly mutation in the CACNA1S gene in a patient with hypokalemic periodic paralysis.Eur J Paediatr Neurol. 2010 May;14(3):278-81. doi: 10.1016/j.ejpn.2009.08.004. Epub 2009 Oct 12.
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Unusual multisystemic involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of myofibrillar myopathies.Orphanet J Rare Dis. 2014 Aug 1;9:121. doi: 10.1186/s13023-014-0121-9.
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A mouse model for EML4-ALK-positive lung cancer.Proc Natl Acad Sci U S A. 2008 Dec 16;105(50):19893-7. doi: 10.1073/pnas.0805381105. Epub 2008 Dec 8.
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Evasion of immune responses to introduced human acid alpha-glucosidase by liver-restricted expression in glycogen storage disease type II.Mol Ther. 2005 Nov;12(5):876-84. doi: 10.1016/j.ymthe.2005.04.024. Epub 2005 Jul 6.
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Differential organ phenotypes after postnatal Igf1r gene conditional deletion induced by tamoxifen in UBC-CreERT2; Igf1r fl/fl double transgenic mice.Transgenic Res. 2015 Apr;24(2):279-94. doi: 10.1007/s11248-014-9837-5. Epub 2014 Sep 20.
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An English kindred with a novel recessive tauopathy and respiratory failure.Ann Neurol. 2003 Nov;54(5):682-6. doi: 10.1002/ana.10747.
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Synthetic and Receptor Signaling Explorations of the Mitragyna Alkaloids: Mitragynine as an Atypical Molecular Framework for Opioid Receptor Modulators.J Am Chem Soc. 2016 Jun 1;138(21):6754-64. doi: 10.1021/jacs.6b00360. Epub 2016 May 18.
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Airway tissue plasminogen activator prevents acute mortality due to lethal sulfur mustard inhalation.Toxicol Sci. 2015 Jan;143(1):178-84. doi: 10.1093/toxsci/kfu225. Epub 2014 Oct 20.
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Neonatal lethality with abnormal neurogenesis in mice deficient in DNA polymerase beta.EMBO J. 2000 Mar 15;19(6):1397-404. doi: 10.1093/emboj/19.6.1397.
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In Vitro Characterization of the Pittsburgh Pediatric Ambulatory Lung.ASAIO J. 2018 Nov/Dec;64(6):806-811. doi: 10.1097/MAT.0000000000000711.
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Ascorbic-acid transporter Slc23a1 is essential for vitamin C transport into the brain and for perinatal survival.Nat Med. 2002 May;8(5):514-7. doi: 10.1038/0502-514.
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[Central nervous system stimulants as nonspecific antagonists of morphine-induced respiratory depression].Eksp Klin Farmakol. 1992 Sep-Oct;55(5):11-5.
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Trpm4 ion channels in pre-Btzinger complex interneurons are essential for breathing motor pattern but not rhythm.PLoS Biol. 2019 Feb 21;17(2):e2006094. doi: 10.1371/journal.pbio.2006094. eCollection 2019 Feb.
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Vesicular acetylcholine transporter defect underlies devastating congenital myasthenia syndrome.Neurology. 2017 Mar 14;88(11):1021-1028. doi: 10.1212/WNL.0000000000003720. Epub 2017 Feb 10.
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Alveolar injury and regeneration following deletion of ABCA3.JCI Insight. 2017 Dec 21;2(24):e97381. doi: 10.1172/jci.insight.97381.
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C/EBP Is a Critical Regulator of Cellular Stress Response Networks through Heterodimerization with ATF4.Mol Cell Biol. 2015 Dec 14;36(5):693-713. doi: 10.1128/MCB.00911-15.
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MEGF10 related myopathies: A new case with adult onset disease with prominent respiratory failure and review of reported phenotypes.Neuromuscul Disord. 2018 Jan;28(1):48-53. doi: 10.1016/j.nmd.2017.09.017. Epub 2017 Oct 12.
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A homozygous mutation in the SCO2 gene causes a spinal muscular atrophy like presentation with stridor and respiratory insufficiency.Eur J Paediatr Neurol. 2010 May;14(3):253-60. doi: 10.1016/j.ejpn.2009.09.008. Epub 2009 Oct 29.
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Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure.J Neurol Neurosurg Psychiatry. 2014 Mar;85(3):331-8. doi: 10.1136/jnnp-2012-304728. Epub 2013 Mar 13.
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A novel mutation causes Hermansky-Pudlak syndrome type 4 with pulmonary fibrosis in 2 siblings from China.Medicine (Baltimore). 2019 Aug;98(33):e16899. doi: 10.1097/MD.0000000000016899.
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SEPN1-related myopathy in three patients: novel mutations and diagnostic clues.Eur J Pediatr. 2016 Aug;175(8):1113-8. doi: 10.1007/s00431-015-2685-3. Epub 2016 Jan 16.
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Actin mutations are one cause of congenital fibre type disproportion.Ann Neurol. 2004 Nov;56(5):689-94. doi: 10.1002/ana.20260.
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COLQ-mutant Congenital Myasthenic Syndrome with Microcephaly: A Unique Case with Literature Review.Transl Neurosci. 2017 Jul 20;8:65-69. doi: 10.1515/tnsci-2017-0011. eCollection 2017.
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Perry syndrome due to the DCTN1 G71R mutation: a distinctive levodopa responsive disorder with behavioral syndrome, vertical gaze palsy, and respiratory failure.Mov Disord. 2010 Apr 30;25(6):767-70. doi: 10.1002/mds.22950.
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Survival beyond the perinatal period expands the phenotypes caused by mutations in GLE1.Am J Med Genet A. 2017 Nov;173(11):3098-3103. doi: 10.1002/ajmg.a.38406. Epub 2017 Sep 8.
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An early onset muscular dystrophy with diaphragmatic involvement, early respiratory failure and secondary alpha2 laminin deficiency unlinked to the LAMA2 locus on 6q22.Eur J Paediatr Neurol. 1998;2(1):19-26. doi: 10.1016/1090-3798(98)01001-9.
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A novel mutation in the myotilin gene (MYOT) causes a severe form of limb girdle muscular dystrophy 1A (LGMD1A).J Neurol. 2011 Aug;258(8):1437-44. doi: 10.1007/s00415-011-5953-9. Epub 2011 Feb 20.
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Essential developmental, genomic stability, and tumour suppressor functions of the mouse orthologue of hSSB1/NABP2.PLoS Genet. 2013;9(2):e1003298. doi: 10.1371/journal.pgen.1003298. Epub 2013 Feb 7.
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Biallelic TBCD Mutations Cause Early-Onset Neurodegenerative Encephalopathy.Am J Hum Genet. 2016 Oct 6;99(4):950-961. doi: 10.1016/j.ajhg.2016.08.005. Epub 2016 Sep 22.
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Age-related metabolic changes limit efficacy of deoxynucleoside-based therapy in thymidine kinase 2-deficient mice.EBioMedicine. 2019 Aug;46:342-355. doi: 10.1016/j.ebiom.2019.07.042. Epub 2019 Jul 24.
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AAV9 gene replacement therapy for respiratory insufficiency in very-long chain acyl-CoA dehydrogenase deficiency.J Inherit Metab Dis. 2019 Sep;42(5):870-877. doi: 10.1002/jimd.12101. Epub 2019 May 3.
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Surgical management of cervical spine deformity in chondrodysplasia punctata.J Neurosurg Pediatr. 2017 Oct;20(4):378-387. doi: 10.3171/2017.5.PEDS16554. Epub 2017 Aug 11.
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Atoh1 governs the migration of postmitotic neurons that shape respiratory effectiveness at birth and chemoresponsiveness in adulthood.Neuron. 2012 Sep 6;75(5):799-809. doi: 10.1016/j.neuron.2012.06.027.
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A novel CAPN3 mutation in late-onset limb-girdle muscular dystrophy with early respiratory insufficiency.J Clin Neurosci. 2018 Jul;53:229-231. doi: 10.1016/j.jocn.2018.04.025. Epub 2018 Apr 21.
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Peripheral neuropathy, episodic myoglobinuria, and respiratory failure in deficiency of the mitochondrial trifunctional protein.Muscle Nerve. 2004 Jan;29(1):66-72. doi: 10.1002/mus.10500.
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Expanded PCH1D phenotype linked to EXOSC9 mutation.Eur J Med Genet. 2020 Jan;63(1):103622. doi: 10.1016/j.ejmg.2019.01.012. Epub 2019 Jan 25.
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Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa.Hum Mol Genet. 2002 Sep 1;11(18):2113-8. doi: 10.1093/hmg/11.18.2113.
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Association between genetically determined pancreatic status and lung disease in adult cystic fibrosis patients.Chest. 2002 Jan;121(1):73-80. doi: 10.1378/chest.121.1.73.
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FOXF1 maintains endothelial barrier function and prevents edema after lung injury.Sci Signal. 2016 Apr 19;9(424):ra40. doi: 10.1126/scisignal.aad1899.
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Clinical features of patients with anti-melanoma differentiation-associated gene-5 antibody-positive dermatomyositis complicated by spontaneous pneumomediastinum.Clin Rheumatol. 2019 Dec;38(12):3443-3450. doi: 10.1007/s10067-019-04729-5. Epub 2019 Aug 16.
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IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy. Nat Genet. 2007 Jun;39(6):727-9. doi: 10.1038/ng2038. Epub 2007 Apr 29.
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Respiratory Failure in Amyotrophic LateralSclerosis.Chest. 2019 Feb;155(2):401-408. doi: 10.1016/j.chest.2018.06.035. Epub 2018 Jul 7.
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Infantile spinal muscular atrophy with respiratory distress type I presenting without respiratory involvement: Novel mutations and review of the literature.Brain Dev. 2016 Aug;38(7):685-9. doi: 10.1016/j.braindev.2016.02.001. Epub 2016 Feb 24.
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Effect of Ganciclovir on IL-6 Levels Among Cytomegalovirus-Seropositive Adults With Critical Illness: A Randomized Clinical Trial.JAMA. 2017 Aug 22;318(8):731-740. doi: 10.1001/jama.2017.10569.
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Structural insights into DNA degradation by human mitochondrial nuclease MGME1.Nucleic Acids Res. 2018 Nov 16;46(20):11075-11088. doi: 10.1093/nar/gky855.
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Human bHLH transcription factor gene myogenin (MYOG): genomic sequence and negative mutation analysis in patients with severe congenital myopathies.Genomics. 1999 May 1;57(3):419-23. doi: 10.1006/geno.1998.5719.
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Non-invasive ventilation during cycle exercise training in patients with chronic respiratory failure on long-term ventilatory support: A randomized controlled trial.Respirology. 2018 Feb;23(2):182-189. doi: 10.1111/resp.13181. Epub 2017 Sep 22.
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Novel NAXE variants as a cause for neurometabolic disorder: implications for treatment.J Neurol. 2020 Mar;267(3):770-782. doi: 10.1007/s00415-019-09640-2. Epub 2019 Nov 20.
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A girl with developmental delay, ataxia, cranial nerve palsies, severe respiratory problems in infancy-Expanding NDST1 syndrome.Am J Med Genet A. 2017 Mar;173(3):712-715. doi: 10.1002/ajmg.a.37621.
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Respiratory insufficiency in a newborn with congenital hypothyroidism due to a new mutation of TTF-1/NKX2.1 gene.Pediatr Pulmonol. 2014 Mar;49(3):E42-4. doi: 10.1002/ppul.22788. Epub 2013 Sep 2.
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Effect of dynorphin-(1-13) and related peptides on respiratory rate and morphine-induced respiratory rate depression.Eur J Pharmacol. 1983 Dec 9;96(1-2):117-22. doi: 10.1016/0014-2999(83)90537-x.
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Depletion of PHF14, a novel histone-binding protein gene, causes neonatal lethality in mice due to respiratory failure.Acta Biochim Biophys Sin (Shanghai). 2013 Aug;45(8):622-33. doi: 10.1093/abbs/gmt055. Epub 2013 May 20.
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A novel nonsense PIEZO2 mutation in a family with scoliosis and proprioceptive defect.Neuromuscul Disord. 2019 Jan;29(1):75-79. doi: 10.1016/j.nmd.2018.10.005. Epub 2018 Nov 8.
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Photoplethysmographic determination of the respiratory rate in acutely ill patients: validation of a new algorithm and implementation into a biomedical device.Ann Intensive Care. 2019 Jan 21;9(1):11. doi: 10.1186/s13613-019-0485-z.
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Severe acute respiratory syndrome coronavirus infection causes neuronal death in the absence of encephalitis in mice transgenic for human ACE2.J Virol. 2008 Aug;82(15):7264-75. doi: 10.1128/JVI.00737-08. Epub 2008 May 21.
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Quenching of tryptophan fluorescence in a highly scattering solution: Insights on protein localization in a lung surfactant formulation.PLoS One. 2018 Aug 3;13(8):e0201926. doi: 10.1371/journal.pone.0201926. eCollection 2018.
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IPLEX administration improves motor neuron survival and ameliorates motor functions in a severe mouse model of spinal muscular atrophy.Mol Med. 2012 Sep 25;18(1):1076-85. doi: 10.2119/molmed.2012.00056.
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Sorting nexin 27 (SNX27) variants associated with seizures, developmental delay, behavioral disturbance, and subcortical brain abnormalities.Clin Genet. 2020 Mar;97(3):437-446. doi: 10.1111/cge.13675. Epub 2019 Dec 11.
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Identification of a deletion containing TBX4 in a neonate with acinar dysplasia by rapid exome sequencing.Am J Med Genet A. 2019 May;179(5):842-845. doi: 10.1002/ajmg.a.61096. Epub 2019 Mar 3.
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Trinucleotide repeat containing 6c (TNRC6c) is essential for microvascular maturation during distal airspace sacculation in the developing lung.Dev Biol. 2017 Oct 1;430(1):214-223. doi: 10.1016/j.ydbio.2017.07.018. Epub 2017 Aug 12.
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Cap disease caused by heterozygous deletion of the beta-tropomyosin gene TPM2.Neuromuscul Disord. 2007 Jun;17(6):433-42. doi: 10.1016/j.nmd.2007.02.015. Epub 2007 Apr 16.
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Systematic review of drug effects in humans and models with surfactant-processing disease.Eur Respir Rev. 2018 Jul 11;27(149):170135. doi: 10.1183/16000617.0135-2017. Print 2018 Sep 30.
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