Publications by Helge Rootwelt
65 publications found
Original articles
Method Development for Omics Analyses using Schirmer Strips
Curr Eye Res, 1-9 (in press)
DOI 10.1080/02713683.2024.2335271, PubMed 38567868
Tear and Saliva Metabolomics in Evaporative Dry Eye Disease in Females
Metabolites, 13 (11)
DOI 10.3390/metabo13111125, PubMed 37999221
APOE Polymorphism Is Associated with Changes in the Kynurenine Pathway
Genes (Basel), 14 (10)
DOI 10.3390/genes14101955, PubMed 37895304
Ex Vivo Pig Eye Model for Studying Diffusion of Acylcarnitines with Different Physicochemical Properties
J Ocul Pharmacol Ther, 39 (5), 324-331
DOI 10.1089/jop.2022.0159, PubMed 37219540
Global Metabolomics Discovers Two Novel Biomarkers in Pyridoxine-Dependent Epilepsy Caused by ALDH7A1 Deficiency
Int J Mol Sci, 23 (24)
DOI 10.3390/ijms232416061, PubMed 36555701
Changes in circulating sirtuin 1 after bariatric surgery
Nutr Metab Cardiovasc Dis, 32 (12), 2858-2864
DOI 10.1016/j.numecd.2022.09.009, PubMed 36404480
Circulating Lipoproteins in Subjects with Morbid Obesity Undergoing Bariatric Surgery with Gastric Bypass or Sleeve Gastrectomy
Nutrients, 14 (12)
DOI 10.3390/nu14122381, PubMed 35745111
Glioblastoma microenvironment contains multiple hormonal and non-hormonal growth-stimulating factors
Fluids Barriers CNS, 19 (1), 45
DOI 10.1186/s12987-022-00333-z, PubMed 35659255
APOE Polymorphism and Endocrine Functions in Subjects with Morbid Obesity Undergoing Bariatric Surgery
Genes (Basel), 13 (2)
DOI 10.3390/genes13020222, PubMed 35205269
Saliva Metabolomics in Dry Mouth Patients with Head and Neck Cancer or Sjögren's Syndrome
Cells, 11 (3)
DOI 10.3390/cells11030323, PubMed 35159133
A pioneer study on human 3-nitropropionic acid intoxication: Contributions from metabolomics
J Appl Toxicol, 42 (5), 818-829
DOI 10.1002/jat.4259, PubMed 34725838
Bridging the Polar and Hydrophobic Metabolome in Single-Run Untargeted Liquid Chromatography-Mass Spectrometry Dried Blood Spot Metabolomics for Clinical Purposes
J Proteome Res, 20 (8), 4010-4021
DOI 10.1021/acs.jproteome.1c00326, PubMed 34296888
APOE - a genetic marker of comorbidity in subjects with morbid obesity
BMC Med Genet, 21 (1), 146
DOI 10.1186/s12881-020-01082-2, PubMed 32646381
Identification of a novel BCKDHA deletion causing maple syrup urine disease
Meta Gene, 10, 86-89
DOI 10.1016/j.mgene.2016.02.004
Simultaneous quantification of IMPDH activity and purine bases in lymphocytes using LC-MS/MS: assessment of biomarker responses to mycophenolic acid
Ther Drug Monit, 36 (1), 108-18
DOI 10.1097/FTD.0b013e3182a13900, PubMed 24061448
Novel Deletion Mutation Identified in a Patient with Late-Onset Combined Methylmalonic Acidemia and Homocystinuria, cblC Type
JIMD Rep, 11, 79-85
DOI 10.1007/8904_2013_225, PubMed 23580368
Effects of APOE on brain white matter microstructure in healthy adults
Neurology, 79 (19), 1961-9
DOI 10.1212/WNL.0b013e3182735c9c, PubMed 23100402
Hereditary tyrosinaemia type I in Norway: incidence and three novel small deletions in the fumarylacetoacetase gene
Scand J Clin Lab Invest, 72 (5), 369-73
DOI 10.3109/00365513.2012.676210, PubMed 22554029
MC1R, ASIP, TYR, and TYRP1 gene variants in a population-based series of multiple primary melanomas
Genes Chromosomes Cancer, 51 (7), 654-61
DOI 10.1002/gcc.21952, PubMed 22447455
DNA base excision repair gene polymorphisms modulate human cognitive performance and decline during normal life span
Mech Ageing Dev, 132 (8-9), 449-58
DOI 10.1016/j.mad.2011.08.002, PubMed 21884718
A novel mucopolysaccharidosis type I associated splice site mutation and IDUA splice variants
Mol Genet Metab, 104 (3), 289-94
DOI 10.1016/j.ymgme.2011.07.012, PubMed 21831683
Increased hippocampal default mode synchronization during rest in middle-aged and elderly APOE ε4 carriers: relationships with memory performance
J Neurosci, 31 (21), 7775-83
DOI 10.1523/JNEUROSCI.1230-11.2011, PubMed 21613490
Nicotinic receptor gene CHRNA4 interacts with processing load in attention
PLoS One, 5 (12), e14407
DOI 10.1371/journal.pone.0014407, PubMed 21203548
Suggestive evidence of associations between liver X receptor β polymorphisms with type 2 diabetes mellitus and obesity in three cohort studies: HUNT2 (Norway), MONICA (France) and HELENA (Europe)
BMC Med Genet, 11, 144
DOI 10.1186/1471-2350-11-144, PubMed 20939869
Four novel mutations identified in Norwegian patients result in intermittent maple syrup urine disease when combined with the R301C mutation
Mol Genet Metab, 100 (4), 324-32
DOI 10.1016/j.ymgme.2010.04.017, PubMed 20570198
Apolipoprotein E ε4-related thickening of the cerebral cortex modulates selective attention
Neurobiol Aging, 33 (2), 304-322.e1
DOI 10.1016/j.neurobiolaging.2009.12.027, PubMed 20382449
Epistasis between APOE and nicotinic receptor gene CHRNA4 in age related cognitive function and decline
J Int Neuropsychol Soc, 16 (3), 424-32
DOI 10.1017/S1355617710000263, PubMed 20331911
Working memory deficits in healthy APOE epsilon 4 carriers
Neuropsychologia, 48 (2), 566-73
DOI 10.1016/j.neuropsychologia.2009.10.018, PubMed 19879282
Hippocampal volumes are important predictors for memory function in elderly women
BMC Med Imaging, 9, 17
DOI 10.1186/1471-2342-9-17, PubMed 19698138
Mycophenolate pharmacokinetics and pharmacodynamics in belatacept treated renal allograft recipients - a pilot study
J Transl Med, 7, 64
DOI 10.1186/1479-5876-7-64, PubMed 19635156
Apolipoprotein E modulates auditory event-related potentials in healthy aging
Neurosci Lett, 459 (2), 91-5
DOI 10.1016/j.neulet.2009.04.053, PubMed 19409447
Individual variation in a cholinergic receptor gene modulates attention
Neurosci Lett, 453 (3), 131-4
DOI 10.1016/j.neulet.2009.02.029, PubMed 19429020
Pharmacodynamics of mycophenolic acid in CD4+ cells: a single-dose study of IMPDH and purine nucleotide responses in healthy individuals
Ther Drug Monit, 30 (6), 647-55
DOI 10.1097/FTD.0b013e31818955c3, PubMed 18806697
Expression of IMPDH1 is regulated in response to mycophenolate concentration
Int Immunopharmacol, 9 (2), 173-80
DOI 10.1016/j.intimp.2008.10.017, PubMed 19010451
Apolipoprotein E genotype and risk for development of cataract and age-related macular degeneration
Acta Ophthalmol, 86 (4), 401-3
DOI 10.1111/j.1600-0420.2007.01070.x, PubMed 18498549
Expression of IMPDH1 and IMPDH2 after transplantation and initiation of immunosuppression
Transplantation, 85 (1), 55-61
DOI 10.1097/01.tp.0000296854.68123.03, PubMed 18192912
Nicotine receptor gene CHRNA4 modulates early event-related potentials in auditory and visual oddball target detection tasks
Neuroscience, 147 (4), 974-85
DOI 10.1016/j.neuroscience.2007.04.027, PubMed 17590520
Effects of APOE and CHRNA4 genotypes on retinal nerve fibre layer thickness at the optic disc and on risk for developing exfoliation syndrome
Acta Ophthalmol Scand, 85 (3), 257-61
DOI 10.1111/j.1600-0420.2006.00824.x, PubMed 17488453
Real-time PCR determination of IMPDH1 and IMPDH2 expression in blood cells
Clin Chem, 53 (6), 1023-9
DOI 10.1373/clinchem.2006.081968, PubMed 17463174
Essential fatty acid deficiency induces fatty acid desaturase expression in rat epididymis, but not in testis
Reproduction, 133 (2), 467-77
DOI 10.1530/REP-06-00294, PubMed 17307914
Accelerated age-related cortical thinning in healthy carriers of apolipoprotein E epsilon 4
Neurobiol Aging, 29 (3), 329-40
DOI 10.1016/j.neurobiolaging.2006.10.030, PubMed 17161508
The G protein beta3 subunit 825C allele is associated with sudden infant death due to infection
Acta Paediatr, 95 (9), 1129-32
DOI 10.1080/08035250600580529, PubMed 16938762
Interactive effects of APOE and CHRNA4 on attention and white matter volume in healthy middle-aged and older adults
Cogn Affect Behav Neurosci, 6 (1), 31-43
DOI 10.3758/cabn.6.1.31, PubMed 16869227
Expression and regulation of delta5-desaturase, delta6-desaturase, stearoyl-coenzyme A (CoA) desaturase 1, and stearoyl-CoA desaturase 2 in rat testis
Biol Reprod, 69 (1), 117-24
DOI 10.1095/biolreprod.102.014035, PubMed 12606372
Pharmacokinetics of diltiazem and its metabolites in relation to CYP2D6 genotype
Clin Pharmacol Ther, 72 (3), 333-42
DOI 10.1067/mcp.2002.127396, PubMed 12235455
Association between apolipoprotein E genotypes and cancer risk in patients with acquired immunodeficiency syndrome
Cancer Detect Prev, 24 (5), 496-9
PubMed 11129992
HIV dementia and apolipoprotein E
Acta Neurol Scand, 95 (5), 315-8
DOI 10.1111/j.1600-0404.1997.tb00217.x, PubMed 9188909
Fumarylacetoacetase mutations in tyrosinaemia type I
Hum Mutat, 7 (3), 239-43
DOI 10.1002/(SICI)1098-1004(1996)7:3<239::AID-HUMU8>3.0.CO;2-5, PubMed 8829657
Identification of a frequent pseudodeficiency mutation in the fumarylacetoacetase gene, with implications for diagnosis of tyrosinemia type I
Am J Hum Genet, 55 (6), 1122-7
PubMed 7977370
Self-induced correction of the genetic defect in tyrosinemia type I
J Clin Invest, 94 (4), 1657-61
DOI 10.1172/JCI117509, PubMed 7929843
Novel splice, missense, and nonsense mutations in the fumarylacetoacetase gene causing tyrosinemia type 1
Am J Hum Genet, 55 (4), 653-8
PubMed 7942842
Tyrosinemia type 1--complex splicing defects and a missense mutation in the fumarylacetoacetase gene
Hum Genet, 94 (3), 235-9
DOI 10.1007/BF00208276, PubMed 8076937
Two missense mutations causing tyrosinemia type 1 with presence and absence of immunoreactive fumarylacetoacetase
Hum Genet, 93 (6), 615-9
DOI 10.1007/BF00201558, PubMed 8005583
Hereditary tyrosinemia type I. Self-induced correction of the fumarylacetoacetase defect
J Clin Invest, 91 (4), 1816-21
DOI 10.1172/JCI116393, PubMed 8473520
The human fumarylacetoacetase gene: characterisation of restriction fragment length polymorphisms and identification of haplotypes in tyrosinemia type 1 and pseudodeficiency
Hum Genet, 89 (2), 229-33
DOI 10.1007/BF00217128, PubMed 1350265
Hereditary tyrosinemia type I: lack of correlation between clinical findings and amount of immunoreactive fumarylacetoacetase protein
Pediatr Res, 31 (1), 43-6
DOI 10.1203/00006450-199201000-00008, PubMed 1594329
Review articles
Dried blood spot analysis with liquid chromatography and mass spectrometry: Trends in clinical chemistry
J Sep Sci, 46 (15), e2300210
DOI 10.1002/jssc.202300210, PubMed 37269205
The Role of Tryptophan Dysmetabolism and Quinolinic Acid in Depressive and Neurodegenerative Diseases
Biomolecules, 12 (7)
DOI 10.3390/biom12070998, PubMed 35883554
Tear Metabolomics in Dry Eye Disease: A Review
Int J Mol Sci, 20 (15)
DOI 10.3390/ijms20153755, PubMed 31374809
[Individualized pharmacotherapy based on cytochrome P-450 (CYP) genotyping]
Tidsskr Nor Laegeforen, 122 (29), 2781-3
PubMed 12523145
Other articles
Reply to Paredes et al. Comment on "Aaseth et al. Circulating Lipoproteins in Subjects with Morbid Obesity Undergoing Bariatric Surgery with Gastric Bypass or Sleeve Gastrectomy. Nutrients 2022, 14, 2381"
Nutrients, 15 (1)
DOI 10.3390/nu15010053, PubMed 36615711
Metabolomics - a new biochemical golden age for personalised medicine
Tidsskr Nor Laegeforen, 142 (6)
DOI 10.4045/tidsskr.22.0034, PubMed 35383452
Effects of nutrition therapy on growth, inflammation and metabolism in immature infants: a study protocol of a double-blind randomized controlled trial (ImNuT)
BMC Pediatr, 21 (1), 19
DOI 10.1186/s12887-020-02425-x, PubMed 33407269
[Customized drugs?]
Tidsskr Nor Laegeforen, 126 (18), 2364
PubMed 16998544
Theses
Studies on the molecular genetics of tyrosinaemia type 1
Institute of Clinical Biochemistry, University of Oslo, Rikshospitalet, [Oslo], 1 b. (flere pag.)
BIBSYS 952247100, ISBN 82-7633-066-5