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Items: 1 to 50 of 314

1.

Cerebral oxygenation and blood flow in normal term infants at rest measured by a hybrid near-infrared device (BabyLux).

Andresen B, De Carli A, Fumagalli M, Giovannella M, Durduran T, Michael Weigel U, Contini D, Spinelli L, Torricelli A, Greisen G.

Pediatr Res. 2019 Jun 24. doi: 10.1038/s41390-019-0474-9. [Epub ahead of print]

PMID:
31234195
2.

Carvedilol inhibits EGF-mediated JB6 P+ colony formation through a mechanism independent of adrenoceptors.

Cleveland KH, Liang S, Chang A, Huang KM, Chen S, Guo L, Huang Y, Andresen BT.

PLoS One. 2019 May 20;14(5):e0217038. doi: 10.1371/journal.pone.0217038. eCollection 2019.

3.

Cerebral oxygenation and blood flow in term infants during postnatal transition: BabyLux project.

De Carli A, Andresen B, Giovannella M, Durduran T, Contini D, Spinelli L, Weigel UM, Passera S, Pesenti N, Mosca F, Torricelli A, Fumagalli M, Greisen G.

Arch Dis Child Fetal Neonatal Ed. 2019 May 13. pii: fetalneonatal-2018-316400. doi: 10.1136/archdischild-2018-316400. [Epub ahead of print]

PMID:
31085677
4.

A pathogenic haplotype, common in Europeans, causes autosomal recessive albinism and uncovers missing heritability in OCA1.

Grønskov K, Jespersgaard C, Bruun GH, Harris P, Brøndum-Nielsen K, Andresen BS, Rosenberg T.

Sci Rep. 2019 Jan 24;9(1):645. doi: 10.1038/s41598-018-37272-5.

5.

Next generation sequencing of RNA reveals novel targets of resveratrol with possible implications for Canavan disease.

Dembic M, Andersen HS, Bastin J, Doktor TK, Corydon TJ, Sass JO, Lopes Costa A, Djouadi F, Andresen BS.

Mol Genet Metab. 2019 Jan;126(1):64-76. doi: 10.1016/j.ymgme.2018.10.004. Epub 2018 Oct 22.

PMID:
30446350
6.

Proceedings of the fifth international RASopathies symposium: When development and cancer intersect.

Rauen KA, Schoyer L, Schill L, Stronach B, Albeck J, Andresen BS, Cavé H, Ellis M, Fruchtman SM, Gelb BD, Gibson CC, Gripp K, Hefner E, Huang WYC, Itkin M, Kerr B, Linardic CM, McMahon M, Oberlander B, Perlstein E, Ratner N, Rogers L, Schenck A, Shankar S, Shvartsman S, Stevenson DA, Stites EC, Stork PJS, Sun C, Therrien M, Ullian EM, Widemann BC, Yeh E, Zampino G, Zenker M, Timmer W, McCormick F.

Am J Med Genet A. 2018 Dec;176(12):2924-2929. doi: 10.1002/ajmg.a.40632. Epub 2018 Oct 10.

PMID:
30302932
7.

In Vitro Comparisons of Near-Infrared Spectroscopy Oximeters: Impact of Slow Changes in Scattering of Liquid Phantoms.

Ostojic D, Kleiser S, Nasseri N, Isler H, Andresen B, Wabnitz H, Karen T, Scholkmann F, Wolf M.

Adv Exp Med Biol. 2018;1072:375-379. doi: 10.1007/978-3-319-91287-5_60.

PMID:
30178374
8.

Psychosocial and clinical outcomes of percutaneous versus surgical pulmonary valve implantation.

Andresen B, Døhlen G, Diep LM, Lindberg H, Fosse E, Andersen MH.

Open Heart. 2018 Jun 27;5(1):e000758. doi: 10.1136/openhrt-2017-000758. eCollection 2018.

9.

Quantum heat engines: Limit cycles and exceptional points.

Insinga A, Andresen B, Salamon P, Kosloff R.

Phys Rev E. 2018 Jun;97(6-1):062153. doi: 10.1103/PhysRevE.97.062153.

PMID:
30011553
10.

Blocking of an intronic splicing silencer completely rescues IKBKAP exon 20 splicing in familial dysautonomia patient cells.

Bruun GH, Bang JMV, Christensen LL, Brøner S, Petersen USS, Guerra B, Grønning AGB, Doktor TK, Andresen BS.

Nucleic Acids Res. 2018 Sep 6;46(15):7938-7952. doi: 10.1093/nar/gky395.

11.

Intronic PAH gene mutations cause a splicing defect by a novel mechanism involving U1snRNP binding downstream of the 5' splice site.

Martínez-Pizarro A, Dembic M, Pérez B, Andresen BS, Desviat LR.

PLoS Genet. 2018 Apr 23;14(4):e1007360. doi: 10.1371/journal.pgen.1007360. eCollection 2018 Apr.

12.

Phosphoproteome profiling provides insight into the mechanism of action for carvedilol-mediated cancer prevention.

Cleveland KH, Yeung S, Huang KM, Liang S, Andresen BT, Huang Y.

Mol Carcinog. 2018 Aug;57(8):997-1007. doi: 10.1002/mc.22820. Epub 2018 Apr 24.

PMID:
29626349
13.

Comparison of tissue oximeters on a liquid phantom with adjustable optical properties: an extension.

Kleiser S, Ostojic D, Andresen B, Nasseri N, Isler H, Scholkmann F, Karen T, Greisen G, Wolf M.

Biomed Opt Express. 2017 Dec 5;9(1):86-101. doi: 10.1364/BOE.9.000086. eCollection 2018 Jan 1.

14.

An intronic variation in SLC52A1 causes exon skipping and transient riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency.

Mosegaard S, Bruun GH, Flyvbjerg KF, Bliksrud YT, Gregersen N, Dembic M, Annexstad E, Tangeraas T, Olsen RKJ, Andresen BS.

Mol Genet Metab. 2017 Dec;122(4):182-188. doi: 10.1016/j.ymgme.2017.10.014. Epub 2017 Nov 2.

PMID:
29122468
15.

Topically Applied Carvedilol Attenuates Solar Ultraviolet Radiation Induced Skin Carcinogenesis.

Huang KM, Liang S, Yeung S, Oiyemhonlan E, Cleveland KH, Parsa C, Orlando R, Meyskens FL Jr, Andresen BT, Huang Y.

Cancer Prev Res (Phila). 2017 Oct;10(10):598-606. doi: 10.1158/1940-6207.CAPR-17-0132. Epub 2017 Aug 15.

16.

Corrigendum: Splicing factor 1 modulates dietary restriction and TORC1 pathway longevity in C. elegans.

Heintz C, Doktor TK, Lanjuin A, Escoubas CC, Zhang Y, Weir HJ, Dutta S, Silva-García CG, Bruun GH, Morantte I, Hoxhaj G, Manning BD, Andresen BS, Mair WB.

Nature. 2017 Jul 27;547(7664):476. doi: 10.1038/nature23313. Epub 2017 Jul 12.

PMID:
28700577
17.

Identification of quinazoline based inhibitors of IRAK4 for the treatment of inflammation.

Smith GF, Altman MD, Andresen B, Baker J, Brubaker JD, Chen H, Chen Y, Childers M, Donofrio A, Ferguson H, Fischer C, Fischmann TO, Gibeau C, Hicks A, Jin S, Kattar S, Kleinschek MA, Leccese E, Lesburg C, Li C, Lim J, Liu D, Maclean JKF, Mansoor F, Moy LY, Mulrooney EF, Necheva AS, Presland J, Rakhilina L, Yang R, Torres L, Zhang-Hoover J, Northrup A.

Bioorg Med Chem Lett. 2017 Jun 15;27(12):2721-2726. doi: 10.1016/j.bmcl.2017.04.050. Epub 2017 Apr 18.

PMID:
28501511
18.

Quantifying cerebral hypoxia by near-infrared spectroscopy tissue oximetry: the role of arterial-to-venous blood volume ratio.

Rasmussen MB, Eriksen VR, Andresen B, Hyttel-Sørensen S, Greisen G.

J Biomed Opt. 2017 Feb 1;22(2):25001. doi: 10.1117/1.JBO.22.2.025001.

PMID:
28152128
19.

Long-term outcome of isobutyryl-CoA dehydrogenase deficiency diagnosed following an episode of ketotic hypoglycaemia.

Santra S, Macdonald A, Preece MA, Olsen RK, Andresen BS.

Mol Genet Metab Rep. 2016 Dec 22;10:28-30. doi: 10.1016/j.ymgmr.2016.11.005. eCollection 2017 Mar.

20.

In-hospital cost comparison between percutaneous pulmonary valve implantation and surgery.

Andresen B, Mishra V, Lewandowska M, Andersen JG, Andersen MH, Lindberg H, Døhlen G, Fosse E.

Eur J Cardiothorac Surg. 2017 Apr 1;51(4):747-753. doi: 10.1093/ejcts/ezw378.

21.

Splicing factor 1 modulates dietary restriction and TORC1 pathway longevity in C. elegans.

Heintz C, Doktor TK, Lanjuin A, Escoubas C, Zhang Y, Weir HJ, Dutta S, Silva-García CG, Bruun GH, Morantte I, Hoxhaj G, Manning BD, Andresen BS, Mair WB.

Nature. 2017 Jan 5;541(7635):102-106. doi: 10.1038/nature20789. Epub 2016 Dec 5. Erratum in: Nature. 2017 Jul 27;547(7664):476.

22.

The prevalent deep intronic c. 639+919 G>A GLA mutation causes pseudoexon activation and Fabry disease by abolishing the binding of hnRNPA1 and hnRNP A2/B1 to a splicing silencer.

Palhais B, Dembic M, Sabaratnam R, Nielsen KS, Doktor TK, Bruun GH, Andresen BS.

Mol Genet Metab. 2016 Nov;119(3):258-269. doi: 10.1016/j.ymgme.2016.08.007. Epub 2016 Aug 27.

PMID:
27595546
23.

Thermodynamical analysis of a quantum heat engine based on harmonic oscillators.

Insinga A, Andresen B, Salamon P.

Phys Rev E. 2016 Jul;94(1-1):012119. doi: 10.1103/PhysRevE.94.012119. Epub 2016 Jul 15.

PMID:
27575089
24.

Comparison of tissue oximeters on a liquid phantom with adjustable optical properties.

Kleiser S, Nasseri N, Andresen B, Greisen G, Wolf M.

Biomed Opt Express. 2016 Jul 11;7(8):2973-92. doi: 10.1364/BOE.7.002973. eCollection 2016 Aug 1.

25.

RNA-sequencing of a mouse-model of spinal muscular atrophy reveals tissue-wide changes in splicing of U12-dependent introns.

Doktor TK, Hua Y, Andersen HS, Brøner S, Liu YH, Wieckowska A, Dembic M, Bruun GH, Krainer AR, Andresen BS.

Nucleic Acids Res. 2017 Jan 9;45(1):395-416. doi: 10.1093/nar/gkw731. Epub 2016 Aug 23.

26.

Global identification of hnRNP A1 binding sites for SSO-based splicing modulation.

Bruun GH, Doktor TK, Borch-Jensen J, Masuda A, Krainer AR, Ohno K, Andresen BS.

BMC Biol. 2016 Jul 5;14:54. doi: 10.1186/s12915-016-0279-9.

27.

VLCAD deficiency: Follow-up and outcome of patients diagnosed through newborn screening in Victoria.

Evans M, Andresen BS, Nation J, Boneh A.

Mol Genet Metab. 2016 Aug;118(4):282-7. doi: 10.1016/j.ymgme.2016.05.012. Epub 2016 May 16.

PMID:
27246109
28.

The Splicing Efficiency of Activating HRAS Mutations Can Determine Costello Syndrome Phenotype and Frequency in Cancer.

Hartung AM, Swensen J, Uriz IE, Lapin M, Kristjansdottir K, Petersen US, Bang JM, Guerra B, Andersen HS, Dobrowolski SF, Carey JC, Yu P, Vaughn C, Calhoun A, Larsen MR, Dyrskjøt L, Stevenson DA, Andresen BS.

PLoS Genet. 2016 May 19;12(5):e1006039. doi: 10.1371/journal.pgen.1006039. eCollection 2016 May.

29.

Cerebral oximetry in preterm infants: an agenda for research with a clear clinical goal.

Greisen G, Andresen B, Plomgaard AM, Hyttel-Sørensen S.

Neurophotonics. 2016 Jul;3(3):031407. doi: 10.1117/1.NPh.3.3.031407. Epub 2016 Apr 25.

30.

The Fourth International Symposium on Genetic Disorders of the Ras/MAPK pathway.

Stevenson DA, Schill L, Schoyer L, Andresen BS, Bakker A, Bayrak-Toydemir P, Burkitt-Wright E, Chatfield K, Elefteriou F, Elgersma Y, Fisher MJ, Franz D, Gelb BD, Goriely A, Gripp KW, Hardan AY, Keppler-Noreuil KM, Kerr B, Korf B, Leoni C, McCormick F, Plotkin SR, Rauen KA, Reilly K, Roberts A, Sandler A, Siegel D, Walsh K, Widemann BC.

Am J Med Genet A. 2016 Aug;170(8):1959-66. doi: 10.1002/ajmg.a.37723. Epub 2016 May 7.

31.

Heat acclimation and thirst in rats.

Barney CC, Schanhals EM, Grobe JL, Andresen BT, Traver M.

Physiol Rep. 2015 Dec;3(12). pii: e12642. doi: 10.14814/phy2.12642.

32.

Mitochondrial trifunctional protein deficiency in human cultured fibroblasts: effects of bezafibrate.

Djouadi F, Habarou F, Le Bachelier C, Ferdinandusse S, Schlemmer D, Benoist JF, Boutron A, Andresen BS, Visser G, de Lonlay P, Olpin S, Fukao T, Yamaguchi S, Strauss AW, Wanders RJ, Bastin J.

J Inherit Metab Dis. 2016 Jan;39(1):47-58. doi: 10.1007/s10545-015-9871-3. Epub 2015 Jun 25.

PMID:
26109258
33.

Splice-shifting oligonucleotide (SSO) mediated blocking of an exonic splicing enhancer (ESE) created by the prevalent c.903+469T>C MTRR mutation corrects splicing and restores enzyme activity in patient cells.

Palhais B, Præstegaard VS, Sabaratnam R, Doktor TK, Lutz S, Burda P, Suormala T, Baumgartner M, Fowler B, Bruun GH, Andersen HS, Kožich V, Andresen BS.

Nucleic Acids Res. 2015 May 19;43(9):4627-39. doi: 10.1093/nar/gkv275. Epub 2015 Apr 15.

34.

Abnormal Newborn Screening in a Healthy Infant of a Mother with Undiagnosed Medium-Chain Acyl-CoA Dehydrogenase Deficiency.

Aksglaede L, Christensen M, Olesen JH, Duno M, Olsen RK, Andresen BS, Hougaard DM, Lund AM.

JIMD Rep. 2015;23:67-70. doi: 10.1007/8904_2015_428. Epub 2015 Mar 13.

35.

The basis of translational physiology: from molecules to humans, a wide arc of scientific inquiry.

Andresen BT.

Physiology (Bethesda). 2015 Jan;30(1):4-5. doi: 10.1152/physiol.00055.2014. Review. No abstract available.

36.

Neurodevelopmental profiles of children with very long chain acyl-CoA dehydrogenase deficiency diagnosed by newborn screening.

Brown A, Crowe L, Andresen BS, Anderson V, Boneh A.

Mol Genet Metab. 2014 Dec;113(4):278-82. doi: 10.1016/j.ymgme.2014.10.005. Epub 2014 Oct 12.

PMID:
25456746
37.

Prevention of skin carcinogenesis by the β-blocker carvedilol.

Chang A, Yeung S, Thakkar A, Huang KM, Liu MM, Kanassatega RS, Parsa C, Orlando R, Jackson EK, Andresen BT, Huang Y.

Cancer Prev Res (Phila). 2015 Jan;8(1):27-36. doi: 10.1158/1940-6207.CAPR-14-0193. Epub 2014 Nov 3.

38.

Perceived health after percutaneous pulmonary valve implantation: in-depth interviews of patients and next-of-kin.

Andresen B, Andersen MH, Lindberg H, Døhlen G, Fosse E.

BMJ Open. 2014 Jul 29;4(7):e005102. doi: 10.1136/bmjopen-2014-005102.

39.

Absence of an intron splicing silencer in porcine Smn1 intron 7 confers immunity to the exon skipping mutation in human SMN2.

Doktor TK, Schrøder LD, Andersen HS, Brøner S, Kitewska A, Sørensen CB, Andresen BS.

PLoS One. 2014 Jun 3;9(6):e98841. doi: 10.1371/journal.pone.0098841. eCollection 2014.

40.

DMH1, a small molecule inhibitor of BMP type i receptors, suppresses growth and invasion of lung cancer.

Hao J, Lee R, Chang A, Fan J, Labib C, Parsa C, Orlando R, Andresen B, Huang Y.

PLoS One. 2014 Mar 6;9(6):e90748. doi: 10.1371/journal.pone.0090748. eCollection 2014.

41.

Traditional Chinese medicinal formula Si-Wu-Tang prevents oxidative damage by activating Nrf2-mediated detoxifying/antioxidant genes.

Liu M, Ravula R, Wang Z, Zuo Z, Chow MS, Thakkar A, Prabhu S, Andresen B, Huang Y.

Cell Biosci. 2014 Feb 10;4(1):8. doi: 10.1186/2045-3701-4-8.

42.

The ETFDH c.158A>G variation disrupts the balanced interplay of ESE- and ESS-binding proteins thereby causing missplicing and multiple Acyl-CoA dehydrogenation deficiency.

Olsen RK, Brøner S, Sabaratnam R, Doktor TK, Andersen HS, Bruun GH, Gahrn B, Stenbroen V, Olpin SE, Dobbie A, Gregersen N, Andresen BS.

Hum Mutat. 2014 Jan;35(1):86-95. doi: 10.1002/humu.22455. Epub 2013 Oct 28.

PMID:
24123825
43.

Identification of six novel PTH1R mutations in families with a history of primary failure of tooth eruption.

Risom L, Christoffersen L, Daugaard-Jensen J, Hove HD, Andersen HS, Andresen BS, Kreiborg S, Duno M.

PLoS One. 2013 Sep 18;8(9):e74601. doi: 10.1371/journal.pone.0074601. eCollection 2013.

44.

The β-blocker Nebivolol Is a GRK/β-arrestin biased agonist.

Erickson CE, Gul R, Blessing CP, Nguyen J, Liu T, Pulakat L, Bastepe M, Jackson EK, Andresen BT.

PLoS One. 2013 Aug 20;8(8):e71980. doi: 10.1371/journal.pone.0071980. eCollection 2013.

45.

Membrane-permeable C-terminal dopamine transporter peptides attenuate amphetamine-evoked dopamine release.

Rickhag M, Owens WA, Winkler MT, Strandfelt KN, Rathje M, Sørensen G, Andresen B, Madsen KL, Jørgensen TN, Wörtwein G, Woldbye DP, Sitte H, Daws LC, Gether U.

J Biol Chem. 2013 Sep 20;288(38):27534-44. doi: 10.1074/jbc.M112.441295. Epub 2013 Jul 24.

46.

Optimal control of a collection of parametric oscillators.

Hoffmann KH, Andresen B, Salamon P.

Phys Rev E Stat Nonlin Soft Matter Phys. 2013 Jun;87(6):062106. Epub 2013 Jun 5.

PMID:
23848626
47.

A synonymous polymorphic variation in ACADM exon 11 affects splicing efficiency and may affect fatty acid oxidation.

Bruun GH, Doktor TK, Andresen BS.

Mol Genet Metab. 2013 Sep-Oct;110(1-2):122-8. doi: 10.1016/j.ymgme.2013.06.005. Epub 2013 Jun 12.

PMID:
23810226
48.

A Large Intragenic Deletion in the ACADM Gene Can Cause MCAD Deficiency but is not Detected on Routine Sequencing.

Searle C, Andresen BS, Wraith E, Higgs J, Gray D, Mills A, Allen KE, Hobson E.

JIMD Rep. 2013;11:13-6. doi: 10.1007/8904_2013_216. Epub 2013 Apr 2.

49.

A C-terminal PDZ domain-binding sequence is required for striatal distribution of the dopamine transporter.

Rickhag M, Hansen FH, Sørensen G, Strandfelt KN, Andresen B, Gotfryd K, Madsen KL, Vestergaard-Klewe I, Ammendrup-Johnsen I, Eriksen J, Newman AH, Füchtbauer EM, Gomeza J, Woldbye DP, Wörtwein G, Gether U.

Nat Commun. 2013;4:1580. doi: 10.1038/ncomms2568. Erratum in: Nat Commun. 2013;4:2589.

50.

Normal Levels of Plasma Free Carnitine and Acylcarnitines in Follow-Up Samples from a Presymptomatic Case of Carnitine Palmitoyl Transferase 1 (CPT1) Deficiency Detected Through Newborn Screening in Denmark.

Borch L, Lund AM, Wibrand F, Christensen E, Søndergaard C, Gahrn B, Hougaard DM, Andresen BS, Gregersen N, Olsen RK.

JIMD Rep. 2012;3:11-5. doi: 10.1007/8904_2011_35. Epub 2011 Sep 22.

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