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Items: 46

1.

Late onset hyperornithinemia-hyperammonemia-homocitrullinuria syndrome - how web searching by the family solved unexplained unconsciousness: a case report.

Silfverberg T, Sahlander F, Enlund M, Oscarson M, Hårdstedt M.

J Med Case Rep. 2018 Sep 23;12(1):274. doi: 10.1186/s13256-018-1794-9.

2.

Identification of endothelin-converting enzyme-2 as an autoantigen in autoimmune polyendocrine syndrome type 1.

Smith-Anttila CJA, Bensing S, Alimohammadi M, Dalin F, Oscarson M, Zhang MD, Perheentupa J, Husebye ES, Gustafsson J, Björklund P, Fransson A, Nordmark G, Rönnblom L, Meloni A, Scott RJ, Hökfelt T, Crock PA, Kämpe O.

Autoimmunity. 2017 Jun;50(4):223-231. doi: 10.1080/08916934.2017.1332183. Epub 2017 May 30.

PMID:
28557628
3.

[Hereditary metabolic diseases with onset in adulthood. Early and correct treatment of acute symptoms can be life-saving].

Oscarson M, Vassiliou D, Nordenström A, Nergårdh R, Wedell A, von Döbeln U.

Lakartidningen. 2016 Feb 1;113. pii: DSHI. Swedish.

4.

Embolic encephalitis in a porcine model of endocarditis.

Christiansen JG, Oscarson M, Jensen HE, Jensen LK, Koch J, Aalbæk B, Nielsen OL, Iburg TM, Leifsson PS.

In Vivo. 2013 Sep-Oct;27(5):591-7.

PMID:
23988892
5.

TSGA10 - A target for autoantibodies in autoimmune polyendocrine syndrome type 1 and systemic lupus erythematosus.

Smith CJ, Oscarson M, Rönnblom L, Alimohammadi M, Perheentupa J, Husebye ES, Gustafsson J, Nordmark G, Meloni A, Crock PA, Kämpe O, Bensing S.

Scand J Immunol. 2011 Feb;73(2):147-53. doi: 10.1111/j.1365-3083.2010.02486.x.

6.

Characterization of deletions at 9p affecting the candidate regions for sex reversal and deletion 9p syndrome by MLPA.

Barbaro M, Balsamo A, Anderlid BM, Myhre AG, Gennari M, Nicoletti A, Pittalis MC, Oscarson M, Wedell A.

Eur J Hum Genet. 2009 Nov;17(11):1439-47. doi: 10.1038/ejhg.2009.70. Epub 2009 May 6.

7.

The reproductive tissue specific cystatin subgroup of genes: expression during gonadal development in wildtype and testatin knockout animals.

Frygelius J, Oscarson M, Nordqvist K, Wedell A, Töhönen V.

Sex Dev. 2007;1(6):363-72. doi: 10.1159/000111768. Epub 2008 Jan 18.

PMID:
18391548
8.

Gene dosage imbalances in patients with 46,XY gonadal DSD detected by an in-house-designed synthetic probe set for multiplex ligation-dependent probe amplification analysis.

Barbaro M, Cicognani A, Balsamo A, Löfgren A, Baldazzi L, Wedell A, Oscarson M.

Clin Genet. 2008 May;73(5):453-64. doi: 10.1111/j.1399-0004.2008.00980.x. Epub 2008 Apr 2.

PMID:
18384427
9.

Effects of rifampicin on global gene expression in human small intestine.

Oscarson M, Burk O, Winter S, Schwab M, Wolbold R, Dippon J, Eichelbaum M, Meyer UA.

Pharmacogenet Genomics. 2007 Nov;17(11):907-18.

PMID:
18075461
10.

Isolated 46,XY gonadal dysgenesis in two sisters caused by a Xp21.2 interstitial duplication containing the DAX1 gene.

Barbaro M, Oscarson M, Schoumans J, Staaf J, Ivarsson SA, Wedell A.

J Clin Endocrinol Metab. 2007 Aug;92(8):3305-13. Epub 2007 May 15.

PMID:
17504899
11.

Complete androgen insensitivity without Wolffian duct development: the AR-A form of the androgen receptor is not sufficient for male genital development.

Barbaro M, Oscarson M, Almskog I, Hamberg H, Wedell A.

Clin Endocrinol (Oxf). 2007 Jun;66(6):822-6. Epub 2007 Apr 4.

PMID:
17408421
12.

Pituitary autoantibodies in autoimmune polyendocrine syndrome type 1.

Bensing S, Fetissov SO, Mulder J, Perheentupa J, Gustafsson J, Husebye ES, Oscarson M, Ekwall O, Crock PA, Hökfelt T, Hulting AL, Kämpe O.

Proc Natl Acad Sci U S A. 2007 Jan 16;104(3):949-54. Epub 2007 Jan 10.

13.

Transcriptional profiling of genes induced in the livers of patients treated with carbamazepine.

Oscarson M, Zanger UM, Rifki OF, Klein K, Eichelbaum M, Meyer UA.

Clin Pharmacol Ther. 2006 Nov;80(5):440-456.

PMID:
17112801
14.

Transcriptional regulation of the human CYP2A6 gene.

Pitarque M, Rodríguez-Antona C, Oscarson M, Ingelman-Sundberg M.

J Pharmacol Exp Ther. 2005 May;313(2):814-22. Epub 2005 Jan 25.

PMID:
15671201
15.

CYPalleles: a web page for nomenclature of human cytochrome P450 alleles.

Oscarson M, Ingelman-Sundberg M.

Drug Metab Pharmacokinet. 2002;17(6):491-5.

16.

The evolution of drug-activated nuclear receptors: one ancestral gene diverged into two xenosensor genes in mammals.

Handschin C, Blättler S, Roth A, Looser R, Oscarson M, Kaufmann MR, Podvinec M, Gnerre C, Meyer UA.

Nucl Recept. 2004 Oct 12;2(1):7.

17.

Polymorphic NF-Y dependent regulation of human nicotine C-oxidase (CYP2A6).

von Richter O, Pitarque M, Rodríguez-Antona C, Testa A, Mantovani R, Oscarson M, Ingelman-Sundberg M.

Pharmacogenetics. 2004 Jun;14(6):369-79.

PMID:
15247629
18.

Characterization and tissue distribution of a novel human cytochrome P450-CYP2U1.

Karlgren M, Backlund M, Johansson I, Oscarson M, Ingelman-Sundberg M.

Biochem Biophys Res Commun. 2004 Mar 12;315(3):679-85.

PMID:
14975754
19.

A nicotine C-oxidase gene (CYP2A6) polymorphism important for promoter activity.

Pitarque M, von Richter O, Rodríguez-Antona C, Wang J, Oscarson M, Ingelman-Sundberg M.

Hum Mutat. 2004 Mar;23(3):258-66.

PMID:
14974084
20.

Cytochrome P450 1B1 gene polymorphisms and postmenopausal breast cancer risk.

Rylander-Rudqvist T, Wedren S, Granath F, Humphreys K, Ahlberg S, Weiderpass E, Oscarson M, Ingelman-Sundberg M, Persson I.

Carcinogenesis. 2003 Sep;24(9):1533-9. Epub 2003 Jul 4.

PMID:
12844487
21.

Pharmacogenetics of drug metabolising enzymes: importance for personalised medicine.

Oscarson M.

Clin Chem Lab Med. 2003 Apr;41(4):573-80. Review.

PMID:
12747605
22.

Human CYP allele database: submission criteria procedures and objectives.

Ingelman-Sundberg M, Oscarson M.

Methods Enzymol. 2002;357:28-36. No abstract available.

PMID:
12424894
23.

Characterization of a novel CYP2A7/CYP2A6 hybrid allele (CYP2A6*12) that causes reduced CYP2A6 activity.

Oscarson M, McLellan RA, Asp V, Ledesma M, Bernal Ruiz ML, Sinues B, Rautio A, Ingelman-Sundberg M.

Hum Mutat. 2002 Oct;20(4):275-83.

PMID:
12325023
24.

Functional analysis of six different polymorphic CYP1B1 enzyme variants found in an Ethiopian population.

Aklillu E, Oscarson M, Hidestrand M, Leidvik B, Otter C, Ingelman-Sundberg M.

Mol Pharmacol. 2002 Mar;61(3):586-94.

PMID:
11854439
25.

Human cytochrome P-450 (CYP) genes: a web page for the nomenclature of alleles.

Ingelman-Sundberg M, Oscarson M, Daly AK, Garte S, Nebert DW.

Cancer Epidemiol Biomarkers Prev. 2001 Dec;10(12):1307-8. No abstract available.

26.

CYP2B6 and CYP2C19 as the major enzymes responsible for the metabolism of selegiline, a drug used in the treatment of Parkinson's disease, as revealed from experiments with recombinant enzymes.

Hidestrand M, Oscarson M, Salonen JS, Nyman L, Pelkonen O, Turpeinen M, Ingelman-Sundberg M.

Drug Metab Dispos. 2001 Nov;29(11):1480-4.

PMID:
11602525
27.

Role of CYP2C9 polymorphism in losartan oxidation.

Yasar U, Tybring G, Hidestrand M, Oscarson M, Ingelman-Sundberg M, Dahl ML, Eliasson E.

Drug Metab Dispos. 2001 Jul;29(7):1051-6.

PMID:
11408373
28.

Identification of a single nucleotide polymorphism in the TATA box of the CYP2A6 gene: impairment of its promoter activity.

Pitarque M, von Richter O, Oke B, Berkkan H, Oscarson M, Ingelman-Sundberg M.

Biochem Biophys Res Commun. 2001 Jun 8;284(2):455-60.

PMID:
11394901
29.

Cloning and tissue distribution of a novel human cytochrome p450 of the CYP3A subfamily, CYP3A43.

Westlind A, Malmebo S, Johansson I, Otter C, Andersson TB, Ingelman-Sundberg M, Oscarson M.

Biochem Biophys Res Commun. 2001 Mar;281(5):1349-55.

PMID:
11243885
30.

Mutations of the CYP2C9 gene and the response to warfarin.

Yasar U, Oscarson M, Eliasson E, Sjöqvist F.

Surgery. 2001 Mar;129(3):384. No abstract available.

PMID:
11231472
31.

Genetic polymorphisms of cytochrome P450 2A6 in a case-control study on lung cancer in a French population.

Loriot MA, Rebuissou S, Oscarson M, Cenée S, Miyamoto M, Ariyoshi N, Kamataki T, Hémon D, Beaune P, Stücker I.

Pharmacogenetics. 2001 Feb;11(1):39-44.

PMID:
11207029
32.

Identification and tissue distribution of the novel human cytochrome P450 2S1 (CYP2S1).

Rylander T, Neve EP, Ingelman-Sundberg M, Oscarson M.

Biochem Biophys Res Commun. 2001 Feb 23;281(2):529-35.

PMID:
11181079
34.

Characterization and functional analysis of two common human cytochrome P450 1B1 variants.

McLellan RA, Oscarson M, Hidestrand M, Leidvik B, Jonsson E, Otter C, Ingelman-Sundberg M.

Arch Biochem Biophys. 2000 Jun 1;378(1):175-81.

PMID:
10871058
35.

Human cytochrome P450 (CYP) genes: recommendations for the nomenclature of alleles.

Ingelman-Sundberg M, Daly AK, Oscarson M, Nebert DW.

Pharmacogenetics. 2000 Feb;10(1):91-3. No abstract available.

PMID:
10739177
36.

Identification and characterisation of novel polymorphisms in the CYP2A locus: implications for nicotine metabolism.

Oscarson M, McLellan RA, Gullstén H, Agúndez JA, Benítez J, Rautio A, Raunio H, Pelkonen O, Ingelman-Sundberg M.

FEBS Lett. 1999 Oct 29;460(2):321-7.

37.
38.

Polymorphic human cytochrome P450 enzymes: an opportunity for individualized drug treatment.

Ingelman-Sundberg M, Oscarson M, McLellan RA.

Trends Pharmacol Sci. 1999 Aug;20(8):342-9. Review.

PMID:
10431214
39.

Characterisation and PCR-based detection of a CYP2A6 gene deletion found at a high frequency in a Chinese population.

Oscarson M, McLellan RA, Gullstén H, Yue QY, Lang MA, Bernal ML, Sinues B, Hirvonen A, Raunio H, Pelkonen O, Ingelman-Sundberg M.

FEBS Lett. 1999 Apr 1;448(1):105-10.

40.

Genotyping of human cytochrome P450 2A6 (CYP2A6), a nicotine C-oxidase.

Oscarson M, Gullstén H, Rautio A, Bernal ML, Sinues B, Dahl ML, Stengård JH, Pelkonen O, Raunio H, Ingelman-Sundberg M.

FEBS Lett. 1998 Nov 6;438(3):201-5.

41.

Characterization of a human glutathione S-transferase mu cluster containing a duplicated GSTM1 gene that causes ultrarapid enzyme activity.

McLellan RA, Oscarson M, Alexandrie AK, Seidegård J, Evans DA, Rannug A, Ingelman-Sundberg M.

Mol Pharmacol. 1997 Dec;52(6):958-65.

PMID:
9415705
42.

A combination of mutations in the CYP2D6*17 (CYP2D6Z) allele causes alterations in enzyme function.

Oscarson M, Hidestrand M, Johansson I, Ingelman-Sundberg M.

Mol Pharmacol. 1997 Dec;52(6):1034-40.

PMID:
9415713
43.

Frequent occurrence of CYP2D6 gene duplication in Saudi Arabians.

McLellan RA, Oscarson M, Seidegård J, Evans DA, Ingelman-Sundberg M.

Pharmacogenetics. 1997 Jun;7(3):187-91.

PMID:
9241658
44.

Genetic polymorphism of human CYP2E1: characterization of two variant alleles.

Hu Y, Oscarson M, Johansson I, Yue QY, Dahl ML, Tabone M, Arincò S, Albano E, Ingelman-Sundberg M.

Mol Pharmacol. 1997 Mar;51(3):370-6.

PMID:
9058590
45.

Genetic analysis of the Chinese cytochrome P4502D locus: characterization of variant CYP2D6 genes present in subjects with diminished capacity for debrisoquine hydroxylation.

Johansson I, Oscarson M, Yue QY, Bertilsson L, Sjöqvist F, Ingelman-Sundberg M.

Mol Pharmacol. 1994 Sep;46(3):452-9.

PMID:
7935325
46.

Genetic polymorphism of cytochrome P450. Functional consequences and possible relationship to disease and alcohol toxicity.

Ingelman-Sundberg M, Johansson I, Persson I, Oscarson M, Hu Y, Bertilsson L, Dahl ML, Sjöqvist F.

EXS. 1994;71:197-207. Review.

PMID:
8032151

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