Skip header and navigation

Refine By

43 records – page 1 of 5.

Activation of flavonoid biosynthesis by solar radiation in bilberry ( Vaccinium myrtillus L) leaves.

https://arctichealth.org/en/permalink/ahliterature9570
Source
Planta. 2004 Mar;218(5):721-8
Publication Type
Article
Date
Mar-2004
Author
Laura Jaakola
Kaisu Määttä-Riihinen
Sirpa Kärenlampi
Anja Hohtola
Author Affiliation
Department of Biology/Botany, University of Oulu, POB 3000, 90014, Oulu, Finland. laura.jaakola@oulu.fi
Source
Planta. 2004 Mar;218(5):721-8
Date
Mar-2004
Language
English
Publication Type
Article
Keywords
Acclimatization - physiology - radiation effects
Acyltransferases - genetics - metabolism
Alcohol Oxidoreductases - genetics - metabolism
Flavonoids - biosynthesis - radiation effects
Fruit - metabolism - radiation effects
Gene Expression Regulation, Enzymologic - radiation effects
Gene Expression Regulation, Plant - radiation effects
Mixed Function Oxygenases - genetics - metabolism
Oxygenases - genetics - metabolism
Phenylalanine Ammonia-Lyase - genetics - metabolism
Plant Leaves - metabolism - radiation effects
Research Support, Non-U.S. Gov't
Sunlight
Vaccinium myrtillus - genetics - metabolism - radiation effects
Abstract
The effect of solar radiation on flavonoid biosynthesis was studied in bilberry ( Vaccinium myrtillus L.) leaves. Expression of flavonoid pathway genes of bilberry was studied in the upper leaves of bilberry, exposed to direct sunlight, in the shaded leaves growing lower in the same plants and in fruits. Bilberry-specific digoxigenin-dUTP-labeled cDNA fragments of five genes from the general phenylpropanoid pathway coding phenylalanine ammonia-lyase and from the flavonoid pathway coding chalcone synthase, flavanone 3-hydroxylase, dihydroflavonol 4-reductase, and anthocyanidin synthase were used as probes in gene expression analysis. Anthocyanins, catechins, proanthocyanidins, flavonols and hydroxycinnamic acids from the leaves and fruits were identified and quantified using high-performance liquid chromatography combined with a diode array detector. An increase in the expression of the studied flavonoid pathway genes was observed in leaves growing under direct sun exposure. Also, the concentrations of anthocyanins, catechins, flavonols and hydroxycinnamic acids were higher in the leaves exposed to direct sunlight. However, the concentration of polymeric procyanidins was lower in sun-exposed leaves, whereas that of prodelphinidins was slightly increased. The results give further support for the protective role of flavonoids and hydroxy cinnamic acids against high solar radiation in plants. Also, the roles of different flavonoid compounds as a defense against stress caused by sun exposure is discussed.
PubMed ID
14666422 View in PubMed
Less detail

Allozyme variation of Macoma baltica (L.) in the Bothnian Sea.

https://arctichealth.org/en/permalink/ahliterature12767
Source
Hereditas. 1985;102(2):277-80
Publication Type
Article
Date
1985

Archaeal diversity and a gene for ammonia oxidation are coupled to oceanic circulation.

https://arctichealth.org/en/permalink/ahliterature95465
Source
Environ Microbiol. 2009 Apr;11(4):971-80
Publication Type
Article
Date
Apr-2009
Author
Galand Pierre E
Lovejoy Connie
Hamilton Andrew K
Ingram R Grant
Pedneault Estelle
Carmack Eddy C
Author Affiliation
Département de Biologie et Québec-Océan, Université Laval, Québec G1K 7P4, Canada. pgaland@ceab.csic.es
Source
Environ Microbiol. 2009 Apr;11(4):971-80
Date
Apr-2009
Language
English
Publication Type
Article
Keywords
Ammonia - metabolism
Archaea - classification - genetics - isolation & purification
Archaeal Proteins - genetics
Biodiversity
DNA, Archaeal - chemistry - genetics
DNA, Ribosomal - chemistry - genetics
Genes, rRNA
Oxidation-Reduction
Oxidoreductases - genetics
Phylogeny
RNA, Archaeal - genetics
RNA, Ribosomal, 16S - genetics
Seawater - microbiology
Sequence Analysis, DNA
Sequence Homology, Nucleic Acid
Abstract
Evidence of microbial zonation in the open ocean is rapidly accumulating, but while the distribution of communities is often described according to depth, the other physical factors structuring microbial diversity and function remain poorly understood. Here we identify three different water masses in the North Water (eastern Canadian Arctic), defined by distinct temperature and salinity characteristics, and show that they contained distinct archaeal communities. Moreover, we found that one of the water masses contained an increased abundance of the archaeal alpha-subunit of the ammonia monooxygenase gene (amoA) and accounted for 70% of the amoA gene detected overall. This indicates likely differences in putative biogeochemical capacities among different water masses. The ensemble of our results strongly suggest that the widely accepted view of depth stratification did not explain microbial diversity, but rather that parent water masses provide the framework for predicting communities and potential microbial function in an Arctic marine system. Our results emphasize that microbial distributions are strongly influenced by oceanic circulation, implying that shifting currents and water mass boundaries resulting from climate change may well impact patterns of microbial diversity by displacing whole biomes from their historic distributions. This relocation could have the potential to establish a substantially different geography of microbial-driven biogeochemical processes and associated oceanic production.
PubMed ID
19077007 View in PubMed
Less detail

Association of LOXL1 gene with Finnish exfoliation syndrome patients.

https://arctichealth.org/en/permalink/ahliterature151709
Source
J Hum Genet. 2009 May;54(5):289-97
Publication Type
Article
Date
May-2009
Author
Susanna Lemmelä
Eva Forsman
Päivi Onkamo
Hanna Nurmi
Hannele Laivuori
Tero Kivelä
Päivi Puska
Martin Heger
Aldur Eriksson
Henrik Forsius
Irma Järvelä
Author Affiliation
Department of Medical Genetics, University of Helsinki, Helsinki, Finland. susanna.lemmela@helsinki.fi
Source
J Hum Genet. 2009 May;54(5):289-97
Date
May-2009
Language
English
Publication Type
Article
Keywords
Aged, 80 and over
Alleles
Amino Acid Oxidoreductases - genetics
Case-Control Studies
Exfoliation Syndrome - complications - genetics
Family
Finland - ethnology
Genetic Linkage
Genetic Loci - genetics
Genetic Predisposition to Disease
Glaucoma, Open-Angle - complications - genetics
Haplotypes - genetics
Humans
Polymorphism, Single Nucleotide - genetics
Abstract
In this study, three single-nucleotide polymorphisms (SNPs) on the lysyl oxidase-like 1 (LOXL1) gene associated with exfoliation syndrome (XFS) and exfoliation glaucoma (XFG) were investigated in the Finnish population. A case-control study of 59 sporadic patients with XFS, 82 with XFG, 71 with primary open-angle glaucoma (POAG) and 26 individuals without these disorders from the southern Finnish population, and a family study of an extended family with 28 patients with XFS or XFG and 92 unaffected relatives from Kökar islands, Southwestern Finnish archipelago, were conducted. Anonymous blood donors (n=404) were studied as population-based controls. Three SNPs, rs1048661 (R141L), rs3825942 (G153D) and rs2165241, of the LOXL1 gene were genotyped by PCR sequencing. Association and linkage analyses were carried out. In both case-control and family materials, significant association for allele G of rs1048661 (P=2.65 x 10(-5); P=0.0007), allele G of rs3825942 (P=2.24 x 10(-8); P=0.49) and allele T of rs2165241 (P=2.62 x 10(-13); P
PubMed ID
19343041 View in PubMed
Less detail

[Association of xenobiotic-metabolizing gene polymorphisms with childhood atopic diseases in Russian patients from the Republic of Bashkortostan].

https://arctichealth.org/en/permalink/ahliterature145977
Source
Mol Biol (Mosk). 2009 Nov-Dec;43(6):1032-9
Publication Type
Article
Author
Iu Iu Fedorova
O A Gra
A S Karunas
A Kh Khuzina
N N Ramazanova
A A Iuldasheva
A R Biktasheva
E I Etkina
T V Nasedkina
I V Goldenkova-Pavlova
E K Khusnutdinova
Source
Mol Biol (Mosk). 2009 Nov-Dec;43(6):1032-9
Language
Russian
Publication Type
Article
Keywords
Adolescent
Alleles
Bashkiria
Child
Child, Preschool
Environmental Exposure - adverse effects
Female
Gene Frequency - genetics
Humans
Infant
Male
Oxidoreductases - genetics
Polymorphism, Genetic
Rhinitis, Allergic, Perennial - chemically induced - enzymology - genetics
Sex Factors
Xenobiotics - adverse effects
Abstract
Enzymes of biotransformation system involved in the metabolism of exogenous and endogenous compounds are effective mechanism of protection from negative environmental factors. Decreasing activity or insufficient synthesis of biotransformation system enzymes caused by genetic polymorphism form the risk of various complex diseases, including atopic. Using allele-specific hybridization on the biochip the frequencies of xenobiotic-metabolizing gene polymorphisms in Russian children with bronchial asthma, allergic rhinitisand healthy donors from the Republic of Bashkortostan have been determined. The analysis of polymorphisms in CYP1A1, GSTT1, GSTM1, NAT2, MTHFR, CYP2C9 and CYP2C19 genes didn't reveal any association with atopic diseases. The frequencies of CYP2D6*1934G/G genotype and CYP2D6*1934G allele were significantly higher among boys with rhinitis symptoms than in control group.
PubMed ID
20088379 View in PubMed
Less detail

Associations of the NRF2/KEAP1 pathway and antioxidant defense gene polymorphisms with chronic obstructive pulmonary disease.

https://arctichealth.org/en/permalink/ahliterature298547
Source
Gene. 2019 Apr 15; 692:102-112
Publication Type
Journal Article
Date
Apr-15-2019
Author
Gulnaz F Korytina
Leysan Z Akhmadishina
Yulia G Aznabaeva
Olga V Kochetova
Naufal Sh Zagidullin
Julia G Kzhyshkowska
Shamil Z Zagidullin
Tatyana V Viktorova
Author Affiliation
Institute of Biochemistry and Genetics - Subdivision of the Ufa Federal Research Centre of the Russian Academy of Sciences (IBG UFRC RAS), Pr. Oktybry 71, Ufa 450054, Russian Federation. Electronic address: ecolab_203@mail.ru.
Source
Gene. 2019 Apr 15; 692:102-112
Date
Apr-15-2019
Language
English
Publication Type
Journal Article
Keywords
Aged
Alcohol Oxidoreductases - genetics
Case-Control Studies
Female
Gene Frequency
Gene-Environment Interaction
Genetic Predisposition to Disease
HSP70 Heat-Shock Proteins - genetics
Humans
Kelch-Like ECH-Associated Protein 1 - genetics
Male
Metabolic Networks and Pathways - genetics
Middle Aged
NF-E2-Related Factor 2 - genetics
Peroxidase - genetics
Polymorphism, Single Nucleotide
Prion Proteins - genetics
Pulmonary Disease, Chronic Obstructive - genetics
Russia - ethnology
Sirtuin 2 - genetics
Abstract
Chronic obstructive pulmonary disease (COPD) is a complex chronic inflammatory disease of the respiratory system affecting primarily distal respiratory pathways and lung parenchyma. This work was designed as a case-control study aimed at investigating the association of the NRF2/KEAP1 signaling system, and antioxidant defense gene polymorphisms with COPD in population from Russia.
Ten SNPs: NFE2L2 (rs35652124), KEAP1 (rs1048290), MPO (rs2333227), PRNP (rs1799990), PTGR1 (rs2273788), HSPA1A (rs1008438), TXNRD2 (rs1139793), GSR (rs1002149), SIRT2 (rs10410544), and PTGS1 (rs1330344) were genotyped by the real-time polymerase chain reaction (TaqMan assays) in a case-control study (425 COPD patients and 457 controls, from the same region of Russia, representatives of Tatar population). Logistic regression was used to detect the association of SNPs in different models. Linear regression analyses were performed to estimate the relationship between SNPs and lung function parameters and smoking pack-years.
In our population, a significant associations of KEAP1 (rs1048290) (P?=?0.0015, OR?=?0.72 in additive model), HSPA1A (rs1008438) (P?=?0.006, OR?=?2.26 in recessive model), GSR (rs1002149) (P?=?0.037, OR?=?1.31 in additive model) with COPD were revealed. NFE2L2 (rs35652124), PRNP (rs1799990), and HSPA1A (rs1008438) were significantly associated with COPD only in smokers. In nonsmokers, significant association was established for GSR (rs1002149). KEAP1 (rs1048290) was associated with COPD in both groups. The relationship between KEAP1 (rs1048290), NFE2L2 (rs35652124), and HSPA1A (rs1008438) and smoking pack-years was found (P?=?0.005, P?=?0.0028, P?=?0.015). A significant genotype-dependent variation of forced vital capacity and forced expiratory volume in 1?s was observed for SIRT2 (rs10410544) (P?=?0.04), NFE2L2 (rs35652124) (P?=?0.028), and PRNP (rs1799990) (P?=?0.044).
PubMed ID
30641209 View in PubMed
Less detail

Birth prevalence and mutation spectrum in danish patients with autosomal recessive albinism.

https://arctichealth.org/en/permalink/ahliterature90936
Source
Invest Ophthalmol Vis Sci. 2009 Mar;50(3):1058-64
Publication Type
Article
Date
Mar-2009
Author
Grønskov Karen
Ek Jakob
Sand Annie
Scheller Rudolf
Bygum Anette
Brixen Kim
Brondum-Nielsen Karen
Rosenberg Thomas
Author Affiliation
edical Genetics Laboratory Center, Kennedy Center, Glostrup, Denmark. kag@kennedy.dk
Source
Invest Ophthalmol Vis Sci. 2009 Mar;50(3):1058-64
Date
Mar-2009
Language
English
Publication Type
Article
Keywords
Adolescent
Adult
Aged
Albinism, Oculocutaneous - diagnosis - epidemiology - genetics
Alleles
Antigens, Neoplasm - genetics
Antiporters - genetics
Child
Child, Preschool
Chromatography, High Pressure Liquid
DNA Mutational Analysis
Denmark - epidemiology
Female
Genes, Recessive
Humans
Infant
Male
Membrane Glycoproteins - genetics
Membrane Transport Proteins - genetics
Middle Aged
Mutation
Oxidoreductases - genetics
Pedigree
Phenotype
Prevalence
Registries
Retrospective Studies
Reverse Transcriptase Polymerase Chain Reaction
Tyrosine - genetics
Abstract
PURPOSE: The study was initiated to investigate the mutation spectrum of four OCA genes and to calculate the birth prevalence in patients with autosomal recessive albinism. METHODS: Mutation analysis using dHPLC or direct DNA sequencing of TYR, OCA2, TYRP1, and MATP was performed in 62 patients. Furthermore, 15 patients were investigated for mutations in SLC24A5. Allele expression was investigated in heterozygous patients by RT-PCR analysis. The birth prevalence was calculated based on retrospective data from a compulsory national register. RESULTS: Sixty-two patients were investigated for mutations. Two mutations in one OCA gene explained oculocutaneous albinism (OCA) in 44% of the patients. Mutations in TYR were found in 26% of patients, while OCA2 and MATP caused OCA in 15% and 3%, respectively. No mutations were found in TYRP1. Of the remaining 56% of patients, 29% were heterozygous for a mutation in either TYR or OCA2, and 27% were without mutations in any of the four genes. Exclusive expression of the mutant allele was found in four heterozygous patients. A minimum birth prevalence of 1 in 14,000 was calculated, based on register data on 218 patients. The proportion of OCA to autosomal recessive ocular albinism (AROA) based on clinical findings was 55 to 45. CONCLUSIONS: TYR is the major OCA gene in Denmark, but several patients do not have mutations in the investigated genes. A relatively large fraction of patients were observed with AROA, and of those 52% had no mutations compared with 15% of those with OCA.
PubMed ID
19060277 View in PubMed
Less detail

Clinical and biochemical characteristics and genotype-phenotype correlation in Finnish variegate porphyria patients.

https://arctichealth.org/en/permalink/ahliterature188350
Source
Eur J Hum Genet. 2002 Oct;10(10):649-57
Publication Type
Article
Date
Oct-2002
Author
Mikael von und zu Fraunberg
Kaisa Timonen
Pertti Mustajoki
Raili Kauppinen
Author Affiliation
Department of Medicine, Division of Endocrinology, University Central Hospital of Helsinki, Biomedicum Helsinki, Helsinki, Finland. mikael.fraunberg@hus.fi
Source
Eur J Hum Genet. 2002 Oct;10(10):649-57
Date
Oct-2002
Language
English
Publication Type
Article
Keywords
Adolescent
Adult
Aged
Aged, 80 and over
Coproporphyrins - metabolism - urine
Feces - chemistry
Female
Finland
Flavoproteins
Genotype
Humans
Male
Middle Aged
Mitochondrial Proteins
Oxidoreductases - genetics - metabolism
Oxidoreductases Acting on CH-CH Group Donors
Phenotype
Porphyrias, Hepatic - genetics - metabolism
Protoporphyrinogen Oxidase
Protoporphyrins - metabolism
Structure-Activity Relationship
Uroporphyrins - urine
Abstract
Variegate porphyria (VP) is an inherited metabolic disease resulting from the partial deficiency of protoporphyrinogen oxidase, the penultimate enzyme in the heme biosynthetic pathway. We have evaluated the clinical and biochemical outcome of 103 Finnish VP patients diagnosed between 1966 and 2001. Fifty-two per cent of patients had experienced clinical symptoms: 40% had photosensitivity, 27% acute attacks and 14% both manifestations. The proportion of patients with acute attacks has decreased dramatically from 38 to 14% in patients diagnosed before and after 1980, whereas the prevalence of skin symptoms had decreased only subtly from 45 to 34%. We have studied the correlation between PPOX genotype and clinical outcome of 90 patients with the three most common Finnish mutations I12T, R152C and 338G-->C. The patients with the I12T mutation experienced no photosensitivity and acute attacks were rare (8%). Therefore, the occurrence of photosensitivity was lower in the I12T group compared to the R152C group (P=0.001), whereas no significant differences between the R152C and 338G-->C groups could be observed. Biochemical abnormalities were significantly milder suggesting a milder form of the disease in patients with the I12T mutation. In all VP patients, normal excretion of protoporphyrin in faeces in adulthood predicted freedom from both skin symptoms and acute attacks. The most valuable test predicting an increased risk of symptoms was urinary coproporphyrin, but only a substantially increased excretion exceeding 1,000 nmol/day was associated with an increased risk of both skin symptoms and acute attacks. All patients with an excretion of more than 1,000 nmol/day experienced either skin symptoms, acute attacks, or both.
PubMed ID
12357337 View in PubMed
Less detail

Common sequence variants in the LOXL1 gene confer susceptibility to exfoliation glaucoma.

https://arctichealth.org/en/permalink/ahliterature161963
Source
Science. 2007 Sep 7;317(5843):1397-400
Publication Type
Article
Date
Sep-7-2007
Author
Gudmar Thorleifsson
Kristinn P Magnusson
Patrick Sulem
G Bragi Walters
Daniel F Gudbjartsson
Hreinn Stefansson
Thorlakur Jonsson
Adalbjorg Jonasdottir
Aslaug Jonasdottir
Gerdur Stefansdottir
Gisli Masson
Gudmundur A Hardarson
Hjorvar Petursson
Arsaell Arnarsson
Mehdi Motallebipour
Ola Wallerman
Claes Wadelius
Jeffrey R Gulcher
Unnur Thorsteinsdottir
Augustine Kong
Fridbert Jonasson
Kari Stefansson
Author Affiliation
deCODE genetics Inc, 101 Reykjavik, Iceland.
Source
Science. 2007 Sep 7;317(5843):1397-400
Date
Sep-7-2007
Language
English
Publication Type
Article
Keywords
Adipose Tissue - metabolism
Amino Acid Oxidoreductases - genetics
Case-Control Studies
Chi-Square Distribution
Exfoliation Syndrome - genetics
Female
Gene Expression
Genetic Predisposition to Disease
Genotype
Glaucoma - genetics
Glaucoma, Open-Angle - genetics
Humans
Iceland
Male
Polymorphism, Single Nucleotide
Abstract
Glaucoma is a leading cause of irreversible blindness. A genome-wide search yielded multiple single-nucleotide polymorphisms (SNPs) in the 15q24.1 region associated with glaucoma. Further investigation revealed that the association is confined to exfoliation glaucoma (XFG). Two nonsynonymous SNPs in exon 1 of the gene LOXL1 explain the association, and the data suggest that they confer risk of XFG mainly through exfoliation syndrome (XFS). About 25% of the general population is homozygous for the highest-risk haplotype, and their risk of suffering from XFG is more than 100 times that of individuals carrying only low-risk haplotypes. The population-attributable risk is more than 99%. The product of LOXL1 catalyzes the formation of elastin fibers found to be a major component of the lesions in XFG.
Notes
Comment In: Am J Ophthalmol. 2007 Dec;144(6):974-97518036875
PubMed ID
17690259 View in PubMed
Less detail

Comparison of Archaeal Communities in Mineral Soils at a Boreal Forest in Finland and a Cold-Temperate Forest in Japan.

https://arctichealth.org/en/permalink/ahliterature293477
Source
Microbes Environ. 2017 Dec 27; 32(4):390-393
Publication Type
Comparative Study
Journal Article
Date
Dec-27-2017
Author
Reika Isoda
Shintaro Hara
Teemu Tahvanainen
Yasuyuki Hashidoko
Author Affiliation
Research Faculty of Agriculture, Hokkaido University.
Source
Microbes Environ. 2017 Dec 27; 32(4):390-393
Date
Dec-27-2017
Language
English
Publication Type
Comparative Study
Journal Article
Keywords
Euryarchaeota - classification - genetics - isolation & purification
Finland
High-Throughput Nucleotide Sequencing
Japan
Microbiota - genetics
Oxidoreductases - genetics
RNA, Ribosomal, 16S - genetics
Soil - chemistry
Soil Microbiology
Taiga
Abstract
Archaeal communities in mineral soils were compared between a boreal forest in Finland and cold-temperate forest in Japan using 16S rRNA gene-targeted high-throughput sequencing. In boreal soils, Thaumarchaeota Group 1.1c archaea predominated and Thaumarchaeota Group 1.1a-associated and Group 1.1b archaea were also detected. In temperate soils, Thaumarchaeota Group 1.1a-associated and Group 1.1b archaea were dominant members at the subsurface, whereas their dominancy was replaced by Thermoplasmata archaea at the subsoil. An analysis of the ammonia monooxygenase subunit A gene of Archaea also indicated the distribution of Thaumarchaeota Group 1.1a-associated and Group 1.1b archaea in these soils.
Notes
Cites: Environ Microbiol Rep. 2014 Feb;6(1):70-9 PMID 24596264
Cites: ISME J. 2016 Jan;10(1):85-96 PMID 26140533
Cites: FEMS Microbiol Ecol. 2012 Apr;80(1):193-203 PMID 22224831
Cites: Microbes Environ. 2013;28(2):244-50 PMID 23524372
Cites: Proc Natl Acad Sci U S A. 2011 May 17;108(20):8420-5 PMID 21525411
Cites: Microbiology. 2011 Apr;157(Pt 4):919-36 PMID 21330437
Cites: Nature. 2005 Sep 22;437(7058):543-6 PMID 16177789
Cites: ISME J. 2015 Dec;9(12 ):2740-4 PMID 26000553
Cites: PLoS One. 2013;8(2):e55929 PMID 23418476
Cites: FEMS Microbiol Ecol. 2015 Mar;91(3):null PMID 25764563
Cites: Proc Natl Acad Sci U S A. 2011 Sep 20;108(38):15892-7 PMID 21896746
Cites: FEMS Microbiol Ecol. 2009 Dec;70(3):367-76 PMID 19732147
Cites: FEMS Microbiol Ecol. 2007 Jun;60(3):442-8 PMID 17391330
Cites: Int J Syst Evol Microbiol. 2014 Aug;64(Pt 8):2738-52 PMID 24907263
Cites: J Microbiol. 2014 Jul;52(7):537-47 PMID 24972807
Cites: Nature. 2006 Aug 17;442(7104):806-9 PMID 16915287
Cites: Nat Rev Microbiol. 2008 Mar;6(3):245-52 PMID 18274537
PubMed ID
29109334 View in PubMed
Less detail

43 records – page 1 of 5.