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Items: 1 to 50 of 64

1.

Risk of Invasive Fungal Infections in Patients with High-Risk MDS and AML Receiving Hypomethylating Agents.

Kim GYG, Burns J, Freyer CW, Hamilton KW, Frey NV, Gill SI, Hexner EO, Luger SM, Mangan JK, Martin ME, McCurdy SR, Perl AE, Porter DL, Schuster MG, Stadtmauer EA, Loren AW.

Am J Hematol. 2020 Apr 3. doi: 10.1002/ajh.25808. [Epub ahead of print]

PMID:
32242967
2.

Metabolic regulation of neurodifferentiation in the adult brain.

Maffezzini C, Calvo-Garrido J, Wredenberg A, Freyer C.

Cell Mol Life Sci. 2020 Jan 7. doi: 10.1007/s00018-019-03430-9. [Epub ahead of print] Review.

PMID:
31912194
3.

Guideline implementation is effective at reducing proton pump inhibitor use in hematology-oncology units: A multidisciplinary intervention for reducing Clostridioides difficile risk.

Ziegler MJ, Freyer C, Landsburg D, Pegues D, Bilker W, Hirsh R, Kucharczuk C, Gilmar C, Gorman T, Palmer M, Harker C, Lightheart E, Han JH.

Infect Control Hosp Epidemiol. 2019 Nov;40(11):1294-1296. doi: 10.1017/ice.2019.238. Epub 2019 Aug 30.

PMID:
31466535
4.

C6orf203 is an RNA-binding protein involved in mitochondrial protein synthesis.

Gopalakrishna S, Pearce SF, Dinan AM, Schober FA, Cipullo M, Spåhr H, Khawaja A, Maffezzini C, Freyer C, Wredenberg A, Atanassov I, Firth AE, Rorbach J.

Nucleic Acids Res. 2019 Sep 26;47(17):9386-9399. doi: 10.1093/nar/gkz684.

5.

Defects of mitochondrial RNA turnover lead to the accumulation of double-stranded RNA in vivo.

Pajak A, Laine I, Clemente P, El-Fissi N, Schober FA, Maffezzini C, Calvo-Garrido J, Wibom R, Filograna R, Dhir A, Wedell A, Freyer C, Wredenberg A.

PLoS Genet. 2019 Jul 31;15(7):e1008240. doi: 10.1371/journal.pgen.1008240. eCollection 2019 Jul.

6.

Tisagenlecleucel: The First CAR on the Highway to Remission for Acute Lymphoblastic Leukemia.

Freyer CW.

J Adv Pract Oncol. 2018 Jul-Aug;9(5):537-544. Epub 2018 Jul 1. Review.

7.

Modulation of mtDNA copy number ameliorates the pathological consequences of a heteroplasmic mtDNA mutation in the mouse.

Filograna R, Koolmeister C, Upadhyay M, Pajak A, Clemente P, Wibom R, Simard ML, Wredenberg A, Freyer C, Stewart JB, Larsson NG.

Sci Adv. 2019 Apr 3;5(4):eaav9824. doi: 10.1126/sciadv.aav9824. eCollection 2019 Apr.

8.

Mutations in the mitochondrial tryptophanyl-tRNA synthetase cause growth retardation and progressive leukoencephalopathy.

Maffezzini C, Laine I, Dallabona C, Clemente P, Calvo-Garrido J, Wibom R, Naess K, Barbaro M, Falk A, Donnini C, Freyer C, Wredenberg A, Wedell A.

Mol Genet Genomic Med. 2019 Jun;7(6):e654. doi: 10.1002/mgg3.654. Epub 2019 Mar 28.

9.

Myoglobinopathy is an adult-onset autosomal dominant myopathy with characteristic sarcoplasmic inclusions.

Olivé M, Engvall M, Ravenscroft G, Cabrera-Serrano M, Jiao H, Bortolotti CA, Pignataro M, Lambrughi M, Jiang H, Forrest ARR, Benseny-Cases N, Hofbauer S, Obinger C, Battistuzzi G, Bellei M, Borsari M, Di Rocco G, Viola HM, Hool LC, Cladera J, Lagerstedt-Robinson K, Xiang F, Wredenberg A, Miralles F, Baiges JJ, Malfatti E, Romero NB, Streichenberger N, Vial C, Claeys KG, Straathof CSM, Goris A, Freyer C, Lammens M, Bassez G, Kere J, Clemente P, Sejersen T, Udd B, Vidal N, Ferrer I, Edström L, Wedell A, Laing NG.

Nat Commun. 2019 Mar 27;10(1):1396. doi: 10.1038/s41467-019-09111-2.

10.

Transient plant production of Salmonella Typhimurium diagnostic antibodies.

Kopertekh L, Meyer T, Freyer C, Hust M.

Biotechnol Rep (Amst). 2019 Feb 12;21:e00314. doi: 10.1016/j.btre.2019.e00314. eCollection 2019 Mar.

11.

SQSTM1/p62-Directed Metabolic Reprogramming Is Essential for Normal Neurodifferentiation.

Calvo-Garrido J, Maffezzini C, Schober FA, Clemente P, Uhlin E, Kele M, Stranneheim H, Lesko N, Bruhn H, Svenningsson P, Falk A, Wedell A, Freyer C, Wredenberg A.

Stem Cell Reports. 2019 Apr 9;12(4):696-711. doi: 10.1016/j.stemcr.2019.01.023. Epub 2019 Feb 28.

12.

Absence of TXNIP in Humans Leads to Lactic Acidosis and Low Serum Methionine Linked to Deficient Respiration on Pyruvate.

Katsu-Jiménez Y, Vázquez-Calvo C, Maffezzini C, Halldin M, Peng X, Freyer C, Wredenberg A, Giménez-Cassina A, Wedell A, Arnér ESJ.

Diabetes. 2019 Apr;68(4):709-723. doi: 10.2337/db18-0557. Epub 2019 Feb 12.

13.

Dose-related periorbital edema following sorafenib in a patient with acute myeloid leukemia.

Freyer CW, Mangan JK.

J Oncol Pharm Pract. 2019 Dec;25(8):2035-2037. doi: 10.1177/1078155218818719. Epub 2018 Dec 11.

PMID:
30537918
14.

Oral Vancomycin Prophylaxis Is Highly Effective in Preventing Clostridium difficile Infection in Allogeneic Hematopoietic Cell Transplant Recipients.

Ganetsky A, Han JH, Hughes ME, Babushok DV, Frey NV, Gill SI, Hexner EO, Loren AW, Luger SM, Mangan JK, Martin ME, Smith J, Freyer CW, Gilmar C, Schuster M, Stadtmauer EA, Porter DL.

Clin Infect Dis. 2019 May 30;68(12):2003-2009. doi: 10.1093/cid/ciy822.

15.

Chorea, psychosis, acanthocytosis, and prolonged survival associated with ELAC2 mutations.

Paucar M, Pajak A, Freyer C, Bergendal Å, Döry M, Laffita-Mesa JM, Stranneheim H, Lagerstedt-Robinson K, Savitcheva I, Walker RH, Wedell A, Wredenberg A, Svenningsson P.

Neurology. 2018 Oct 9;91(15):710-712. doi: 10.1212/WNL.0000000000006320. Epub 2018 Sep 14. No abstract available.

16.

Return of individual results in epilepsy genomic research: A view from the field.

Ottman R, Freyer C, Mefford HC, Poduri A, Lowenstein DH; Epilepsy Return of Results Workshop Participants.

Epilepsia. 2018 Sep;59(9):1635-1642. doi: 10.1111/epi.14530. Epub 2018 Aug 10.

17.

Tocilizumab for the treatment of severe steroid-refractory acute graft-versus-host disease of the lower gastrointestinal tract.

Ganetsky A, Frey NV, Hexner EO, Loren AW, Gill SI, Luger SM, Mangan JK, Martin ME, Babushok DV, Drobyski WR, Smith J, Timlin C, Freyer CW, Stadtmauer EA, Porter DL.

Bone Marrow Transplant. 2019 Feb;54(2):212-217. doi: 10.1038/s41409-018-0236-z. Epub 2018 May 24.

PMID:
29795429
18.

Detection of 6-demethoxyubiquinone in CoQ10 deficiency disorders: Insights into enzyme interactions and identification of potential therapeutics.

Herebian D, Seibt A, Smits SHJ, Bünning G, Freyer C, Prokisch H, Karall D, Wredenberg A, Wedell A, López LC, Mayatepek E, Distelmaier F.

Mol Genet Metab. 2017 Jul;121(3):216-223. doi: 10.1016/j.ymgme.2017.05.012. Epub 2017 May 20.

PMID:
28552678
19.

A multi-systemic mitochondrial disorder due to a dominant p.Y955H disease variant in DNA polymerase gamma.

Siibak T, Clemente P, Bratic A, Bruhn H, Kauppila TES, Macao B, Schober FA, Lesko N, Wibom R, Naess K, Nennesmo I, Wedell A, Peter B, Freyer C, Falkenberg M, Wredenberg A.

Hum Mol Genet. 2017 Jul 1;26(13):2515-2525. doi: 10.1093/hmg/ddx146.

20.

Respiratory chain complex III deficiency due to mutated BCS1L: a novel phenotype with encephalomyopathy, partially phenocopied in a Bcs1l mutant mouse model.

Tegelberg S, Tomašić N, Kallijärvi J, Purhonen J, Elmér E, Lindberg E, Nord DG, Soller M, Lesko N, Wedell A, Bruhn H, Freyer C, Stranneheim H, Wibom R, Nennesmo I, Wredenberg A, Eklund EA, Fellman V.

Orphanet J Rare Dis. 2017 Apr 20;12(1):73. doi: 10.1186/s13023-017-0624-2.

21.

Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability.

Bramswig NC, Lüdecke HJ, Hamdan FF, Altmüller J, Beleggia F, Elcioglu NH, Freyer C, Gerkes EH, Demirkol YK, Knupp KG, Kuechler A, Li Y, Lowenstein DH, Michaud JL, Park K, Stegmann APA, Veenstra-Knol HE, Wieland T, Wollnik B, Engels H, Strom TM, Kleefstra T, Wieczorek D.

Hum Genet. 2017 Jul;136(7):821-834. doi: 10.1007/s00439-017-1795-6. Epub 2017 Apr 9.

PMID:
28393272
22.

Alcohol use disorders in Australia.

Freyer CH, Morley KC, Haber PS.

Intern Med J. 2016 Nov;46(11):1259-1268. doi: 10.1111/imj.13237.

PMID:
27813358
23.

A Phenotype-Driven Approach to Generate Mouse Models with Pathogenic mtDNA Mutations Causing Mitochondrial Disease.

Kauppila JHK, Baines HL, Bratic A, Simard ML, Freyer C, Mourier A, Stamp C, Filograna R, Larsson NG, Greaves LC, Stewart JB.

Cell Rep. 2016 Sep 13;16(11):2980-2990. doi: 10.1016/j.celrep.2016.08.037.

24.

Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy.

Haack TB, Ignatius E, Calvo-Garrido J, Iuso A, Isohanni P, Maffezzini C, Lönnqvist T, Suomalainen A, Gorza M, Kremer LS, Graf E, Hartig M, Berutti R, Paucar M, Svenningsson P, Stranneheim H, Brandberg G, Wedell A, Kurian MA, Hayflick SA, Venco P, Tiranti V, Strom TM, Dichgans M, Horvath R, Holinski-Feder E, Freyer C, Meitinger T, Prokisch H, Senderek J, Wredenberg A, Carroll CJ, Klopstock T.

Am J Hum Genet. 2016 Sep 1;99(3):735-743. doi: 10.1016/j.ajhg.2016.06.026. Epub 2016 Aug 18.

25.

Mitochondrial Polyadenylation Is a One-Step Process Required for mRNA Integrity and tRNA Maturation.

Bratic A, Clemente P, Calvo-Garrido J, Maffezzini C, Felser A, Wibom R, Wedell A, Freyer C, Wredenberg A.

PLoS Genet. 2016 May 13;12(5):e1006028. doi: 10.1371/journal.pgen.1006028. eCollection 2016 May.

26.

Rituximab-refractory thrombotic thrombocytopenic purpura responsive to intravenous but not subcutaneous bortezomib.

Patel PP, Becker J, Freyer C, Griffiths E, Thompson JE, Wang ES.

Transfusion. 2016 Apr;56(4):970-4. doi: 10.1111/trf.13465. Epub 2016 Jan 18.

PMID:
26779871
27.

Intra-mitochondrial Methylation Deficiency Due to Mutations in SLC25A26.

Kishita Y, Pajak A, Bolar NA, Marobbio CM, Maffezzini C, Miniero DV, Monné M, Kohda M, Stranneheim H, Murayama K, Naess K, Lesko N, Bruhn H, Mourier A, Wibom R, Nennesmo I, Jespers A, Govaert P, Ohtake A, Van Laer L, Loeys BL, Freyer C, Palmieri F, Wredenberg A, Okazaki Y, Wedell A.

Am J Hum Genet. 2015 Nov 5;97(5):761-8. doi: 10.1016/j.ajhg.2015.09.013. Epub 2015 Oct 29.

28.

Cyclophilin D, a target for counteracting skeletal muscle dysfunction in mitochondrial myopathy.

Gineste C, Hernandez A, Ivarsson N, Cheng AJ, Naess K, Wibom R, Lesko N, Bruhn H, Wedell A, Freyer C, Zhang SJ, Carlström M, Lanner JT, Andersson DC, Bruton JD, Wredenberg A, Westerblad H.

Hum Mol Genet. 2015 Dec 1;24(23):6580-7. doi: 10.1093/hmg/ddv361. Epub 2015 Sep 14.

29.

Decitabine and Sorafenib Therapy in FLT-3 ITD-Mutant Acute Myeloid Leukemia.

Muppidi MR, Portwood S, Griffiths EA, Thompson JE, Ford LA, Freyer CW, Wetzler M, Wang ES.

Clin Lymphoma Myeloma Leuk. 2015 Jun;15 Suppl:S73-9. doi: 10.1016/j.clml.2015.02.033.

PMID:
26297284
30.

Regulation of DNA replication at the end of the mitochondrial D-loop involves the helicase TWINKLE and a conserved sequence element.

Jemt E, Persson Ö, Shi Y, Mehmedovic M, Uhler JP, Dávila López M, Freyer C, Gustafsson CM, Samuelsson T, Falkenberg M.

Nucleic Acids Res. 2015 Oct 30;43(19):9262-75. doi: 10.1093/nar/gkv804. Epub 2015 Aug 7.

31.

SUV3 helicase is required for correct processing of mitochondrial transcripts.

Clemente P, Pajak A, Laine I, Wibom R, Wedell A, Freyer C, Wredenberg A.

Nucleic Acids Res. 2015 Sep 3;43(15):7398-413. doi: 10.1093/nar/gkv692. Epub 2015 Jul 7.

32.

Rescue of primary ubiquinone deficiency due to a novel COQ7 defect using 2,4-dihydroxybensoic acid.

Freyer C, Stranneheim H, Naess K, Mourier A, Felser A, Maffezzini C, Lesko N, Bruhn H, Engvall M, Wibom R, Barbaro M, Hinze Y, Magnusson M, Andeer R, Zetterström RH, von Döbeln U, Wredenberg A, Wedell A.

J Med Genet. 2015 Nov;52(11):779-83. doi: 10.1136/jmedgenet-2015-102986. Epub 2015 Jun 17.

33.

Blinatumomab: enlisting serial killer T-cells in the war against hematologic malignancies.

Rogala B, Freyer CW, Ontiveros EP, Griffiths EA, Wang ES, Wetzler M.

Expert Opin Biol Ther. 2015 Jun;15(6):895-908. doi: 10.1517/14712598.2015.1041912. Review.

34.

Bosutinib for the Treatment of Philadelphia Chromosome-Positive Leukemias.

Varallo-Rodriguez C, Freyer CW Jr, Ontiveros EP, Griffiths EA, Wang ES, Wetzler M.

Expert Opin Orphan Drugs. 2015;3(5):599-608. doi: 10.1517/21678707.2015.1036027. Epub 2015 Apr 16.

35.

Rapid pulsed whole genome sequencing for comprehensive acute diagnostics of inborn errors of metabolism.

Stranneheim H, Engvall M, Naess K, Lesko N, Larsson P, Dahlberg M, Andeer R, Wredenberg A, Freyer C, Barbaro M, Bruhn H, Emahazion T, Magnusson M, Wibom R, Zetterström RH, Wirta V, von Döbeln U, Wedell A.

BMC Genomics. 2014 Dec 11;15:1090. doi: 10.1186/1471-2164-15-1090.

36.

Revisiting the role of cladribine in acute myeloid leukemia: an improvement on past accomplishments or more old news?

Freyer CW, Gupta N, Wetzler M, Wang ES.

Am J Hematol. 2015 Jan;90(1):62-72. doi: 10.1002/ajh.23862. Epub 2014 Oct 25. Review.

37.

High pseudotumor cerebri incidence in tretinoin and arsenic treated acute promyelocytic leukemia and the role of topiramate after acetazolamide failure.

Smith MB, Griffiths EA, Thompson JE, Wang ES, Wetzler M, Freyer CW.

Leuk Res Rep. 2014 Jul 30;3(2):62-6. doi: 10.1016/j.lrr.2014.07.001. eCollection 2014.

38.

Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway.

Acuna-Hidalgo R, Schanze D, Kariminejad A, Nordgren A, Kariminejad MH, Conner P, Grigelioniene G, Nilsson D, Nordenskjöld M, Wedell A, Freyer C, Wredenberg A, Wieczorek D, Gillessen-Kaesbach G, Kayserili H, Elcioglu N, Ghaderi-Sohi S, Goodarzi P, Setayesh H, van de Vorst M, Steehouwer M, Pfundt R, Krabichler B, Curry C, MacKenzie MG, Boycott KM, Gilissen C, Janecke AR, Hoischen A, Zenker M.

Am J Hum Genet. 2014 Sep 4;95(3):285-93. doi: 10.1016/j.ajhg.2014.07.012. Epub 2014 Aug 21.

39.

FOXP3 over-expression inhibits melanoma tumorigenesis via effects on proliferation and apoptosis.

Tan B, Anaka M, Deb S, Freyer C, Ebert LM, Chueh AC, Al-Obaidi S, Behren A, Jayachandran A, Cebon J, Chen W, Mariadason JM.

Oncotarget. 2014 Jan 15;5(1):264-76.

40.

No recombination of mtDNA after heteroplasmy for 50 generations in the mouse maternal germline.

Hagström E, Freyer C, Battersby BJ, Stewart JB, Larsson NG.

Nucleic Acids Res. 2014 Jan;42(2):1111-6. doi: 10.1093/nar/gkt969. Epub 2013 Oct 25.

41.

Germline mitochondrial DNA mutations aggravate ageing and can impair brain development.

Ross JM, Stewart JB, Hagström E, Brené S, Mourier A, Coppotelli G, Freyer C, Lagouge M, Hoffer BJ, Olson L, Larsson NG.

Nature. 2013 Sep 19;501(7467):412-5. doi: 10.1038/nature12474. Epub 2013 Aug 21.

42.

TWINKLE is an essential mitochondrial helicase required for synthesis of nascent D-loop strands and complete mtDNA replication.

Milenkovic D, Matic S, Kühl I, Ruzzenente B, Freyer C, Jemt E, Park CB, Falkenberg M, Larsson NG.

Hum Mol Genet. 2013 May 15;22(10):1983-93. doi: 10.1093/hmg/ddt051. Epub 2013 Feb 7.

43.

Early cell lineage specification in a marsupial: a case for diverse mechanisms among mammals.

Frankenberg S, Shaw G, Freyer C, Pask AJ, Renfree MB.

Development. 2013 Mar;140(5):965-75. doi: 10.1242/dev.091629. Epub 2013 Jan 23.

44.

MTERF3 regulates mitochondrial ribosome biogenesis in invertebrates and mammals.

Wredenberg A, Lagouge M, Bratic A, Metodiev MD, Spåhr H, Mourier A, Freyer C, Ruzzenente B, Tain L, Grönke S, Baggio F, Kukat C, Kremmer E, Wibom R, Polosa PL, Habermann B, Partridge L, Park CB, Larsson NG.

PLoS Genet. 2013;9(1):e1003178. doi: 10.1371/journal.pgen.1003178. Epub 2013 Jan 3.

45.

Variation in germline mtDNA heteroplasmy is determined prenatally but modified during subsequent transmission.

Freyer C, Cree LM, Mourier A, Stewart JB, Koolmeister C, Milenkovic D, Wai T, Floros VI, Hagström E, Chatzidaki EE, Wiesner RJ, Samuels DC, Larsson NG, Chinnery PF.

Nat Genet. 2012 Nov;44(11):1282-5. doi: 10.1038/ng.2427. Epub 2012 Oct 7.

46.
47.

Expression of cancer-testis antigens (MAGE-A1, MAGE-A3/6, MAGE-A4, MAGE-C1 and NY-ESO-1) in primary human uveal and conjunctival melanoma.

Errington JA, Conway RM, Walsh-Conway N, Browning J, Freyer C, Cebon J, Madigan MC.

Br J Ophthalmol. 2012 Mar;96(3):451-8. doi: 10.1136/bjophthalmol-2011-300432. Epub 2011 Dec 20.

PMID:
22190731
48.

Stem cell media culture of melanoma results in the induction of a nonrepresentative neural expression profile.

Anaka M, Freyer C, Gedye C, Caballero O, Davis ID, Behren A, Cebon J.

Stem Cells. 2012 Feb;30(2):336-43. doi: 10.1002/stem.786.

49.

Ultra-deep sequencing of mouse mitochondrial DNA: mutational patterns and their origins.

Ameur A, Stewart JB, Freyer C, Hagström E, Ingman M, Larsson NG, Gyllensten U.

PLoS Genet. 2011 Mar;7(3):e1002028. doi: 10.1371/journal.pgen.1002028. Epub 2011 Mar 24.

50.

Maintenance of respiratory chain function in mouse hearts with severely impaired mtDNA transcription.

Freyer C, Park CB, Ekstrand MI, Shi Y, Khvorostova J, Wibom R, Falkenberg M, Gustafsson CM, Larsson NG.

Nucleic Acids Res. 2010 Oct;38(19):6577-88. doi: 10.1093/nar/gkq527. Epub 2010 Jun 20.

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