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Further analysis of KIFAP3 gene in ALS patients from Switzerland and Sweden.

https://arctichealth.org/en/permalink/ahliterature290097
Source
Amyotroph Lateral Scler Frontotemporal Degener. 2017 05; 18(3-4):302-304
Publication Type
Journal Article
Date
05-2017
Author
David Czell
Peter C Sapp
Christoph Neuwirth
Markus Weber
Peter M Andersen
Robert H Brown
Author Affiliation
a Department of Neurology , Spital Linth , Uznach , Switzerland.
Source
Amyotroph Lateral Scler Frontotemporal Degener. 2017 05; 18(3-4):302-304
Date
05-2017
Language
English
Publication Type
Journal Article
Keywords
Adaptor Proteins, Signal Transducing - genetics
Amyotrophic Lateral Sclerosis - epidemiology - genetics
Bulbar Palsy, Progressive - genetics - mortality
Cohort Studies
Cytoskeletal Proteins - genetics
Genetic Predisposition to Disease
Genome-Wide Association Study
Genotype
Humans
Kaplan-Meier Estimate
Polymorphism, Single Nucleotide
Survival Analysis
Sweden - epidemiology
Switzerland - epidemiology
Abstract
A series of studies suggests that susceptibility to ALS may be influenced by variants in multiple genes. While analyses of the 10% of cases of familial origin have identified more than 33 monogenic ALS-causing genetic defects, little is known about genetic factors that influence susceptibility or phenotype in sporadic ALS (SALS). We and others conducted a genome-wide association study (GWAS) in a cohort of 1014 ALS cases from Western Europe, England and the United States, and identified an intronic single nucleotide polymorphism (SNP) rs1541160 in the KIFAP3 gene that was statistically associated with improved survival. We have now completed an additional survival analysis examining the impact of the rs1541160 genotype in a cohort of 264 ALS and progressive bulbar palsy (PBP) cases. In the combined cohort of 264 patients, the CC, CT and TT genotypes for rs1541160 were detected, respectively, in 8.3% (22), 41.7% (110) and 50.0% (132). This study does not show an influence of KIFAP3 variants on survival in the studied Swiss and Swedish cohort. There was a difference in survival between the US and English patients and the patients from the Netherlands. The effect of KIFAP3 variants may be population specific, or the rs1541160 association reported previously may have been a false-positive.
PubMed ID
28140676 View in PubMed
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Novel association of TM6SF2 rs58542926 genotype with increased serum tyrosine levels and decreased apoB-100 particles in Finns.

https://arctichealth.org/en/permalink/ahliterature290237
Source
J Lipid Res. 2017 Jul; 58(7):1471-1481
Publication Type
Journal Article
Date
Jul-2017
Author
Daniel Seung Kim
Anne U Jackson
Yatong K Li
Heather M Stringham
Johanna Kuusisto
Antti J Kangas
Pasi Soininen
Mika Ala-Korpela
Charles F Burant
Veikko Salomaa
Michael Boehnke
Markku Laakso
Elizabeth K Speliotes
Author Affiliation
Department of Biostatistics and Center for Statistical Genetics, University of Michigan, Ann Arbor, MI markku.laakso@kuh.fi espeliot@umich.edu.
Source
J Lipid Res. 2017 Jul; 58(7):1471-1481
Date
Jul-2017
Language
English
Publication Type
Journal Article
Keywords
Apolipoprotein B-100 - blood
Cross-Sectional Studies
Female
Finland
Genotype
Humans
Male
Membrane Proteins - genetics
Middle Aged
Mutation
Polymorphism, Single Nucleotide
Tyrosine - blood
Abstract
A glutamate-to-lysine variant (rs58542926-T) in transmembrane 6 superfamily member 2 (TM6SF2) is associated with increased fatty liver disease and diabetes in conjunction with decreased cardiovascular disease risk. To identify mediators of the effects of TM6SF2, we tested for associations between rs58542926-T and serum lipoprotein/metabolite measures in cross-sectional data from nondiabetic statin-naïve participants. We identified independent associations between rs58542926-T and apoB-100 particles (ß = -0.057 g/l, P = 1.99 × 10-14) and tyrosine levels (ß = 0.0020 mmol/l, P = 1.10 × 10-8), controlling for potential confounders, in 6,929 Finnish men. The association between rs58542926-T and apoB-100 was confirmed in an independent sample of 2,196 Finnish individuals from the FINRISK study (ßreplication = -0.029, Preplication = 0.029). Secondary analyses demonstrated an rs58542926-T dose-dependent decrease in particle concentration, cholesterol, and triglyceride (TG) content for VLDL and LDL particles (P
Notes
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PubMed ID
28539357 View in PubMed
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Widespread introgression of mountain hare genes into Fennoscandian brown hare populations.

https://arctichealth.org/en/permalink/ahliterature290342
Source
PLoS One. 2018; 13(1):e0191790
Publication Type
Journal Article
Research Support, Non-U.S. Gov't
Date
2018
Author
Riikka Levänen
Carl-Gustaf Thulin
Göran Spong
Jaakko L O Pohjoismäki
Author Affiliation
Department of Environmental and Biological Sciences, University of Eastern Finland, Joensuu, Finland.
Source
PLoS One. 2018; 13(1):e0191790
Date
2018
Language
English
Publication Type
Journal Article
Research Support, Non-U.S. Gov't
Keywords
Animals
Cell Nucleus - genetics
DNA, Mitochondrial - genetics
Finland
Gene Flow
Genetic markers
Genetic Variation
Genetics, Population
Genotype
Hares - classification - genetics
Hybridization, Genetic
Models, Genetic
Polymorphism, Single Nucleotide
Species Specificity
Stochastic Processes
Sweden
Abstract
In Fennoscandia, mountain hare (Lepus timidus) and brown hare (Lepus europaeus) hybridize and produce fertile offspring, resulting in gene flow across the species barrier. Analyses of maternally inherited mitochondrial DNA (mtDNA) show that introgression occur frequently, but unavailability of appropriate nuclear DNA markers has made it difficult to evaluate the scale- and significance for the species. The extent of introgression has become important as the brown hare is continuously expanding its range northward, at the apparent expense of the mountain hare, raising concerns about possible competition. We report here, based on analysis of 6833 SNP markers, that the introgression is highly asymmetrical in the direction of gene flow from mountain hare to brown hare, and that the levels of nuclear gene introgression are independent of mtDNA introgression. While it is possible that brown hares obtain locally adapted alleles from the resident mountain hares, the low levels of mountain hare alleles among allopatric brown hares suggest that hybridization is driven by stochastic processes. Interspecific geneflow with the brown hare is unlikely to have major impacts on mountain hare in Fennoscandia, but direct competition may.
Notes
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PubMed ID
29370301 View in PubMed
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Genetic susceptibility to cardiovascular disease and risk of dementia.

https://arctichealth.org/en/permalink/ahliterature290703
Source
Transl Psychiatry. 2017 05 30; 7(5):e1142
Publication Type
Journal Article
Research Support, Non-U.S. Gov't
Research Support, N.I.H., Extramural
Date
05-30-2017
Author
I K Karlsson
A Ploner
C Song
M Gatz
N L Pedersen
S Hägg
Author Affiliation
Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
Source
Transl Psychiatry. 2017 05 30; 7(5):e1142
Date
05-30-2017
Language
English
Publication Type
Journal Article
Research Support, Non-U.S. Gov't
Research Support, N.I.H., Extramural
Keywords
Aged
Aged, 80 and over
Alzheimer Disease - complications - genetics
Apolipoproteins E - genetics
Cardiovascular Diseases - complications - diagnosis - genetics
Cognitive Dysfunction - diagnosis - epidemiology
Coronary Artery Disease - genetics
Cross-Sectional Studies
Dementia - complications - diagnosis
Female
Genetic Predisposition to Disease - genetics
Genome-Wide Association Study
Genotype
Humans
Lipids - genetics
Longitudinal Studies
Male
Middle Aged
Polymorphism, Single Nucleotide - genetics
Risk factors
Sweden - epidemiology
Twins - genetics
Abstract
Several studies have shown cardiovascular disease (CVD) to be associated with dementia, but it is not clear whether CVD per se increases the risk of dementia or whether the association is due to shared risk factors. We tested how a genetic risk score (GRS) for coronary artery disease (CAD) affects dementia risk after CVD in 13?231 Swedish twins. We also utilized summarized genome-wide association data to study genetic overlap between CAD and Alzheimer´s disease (AD), and additionally between shared risk factors and each disease. There was no direct effect of a CAD GRS on dementia (hazard ratio 0.99, 95% confidence interval (CI): 0.98-1.01). However, the GRS for CAD modified the association between CVD and dementia within 3 years of CVD diagnosis, ranging from a hazard ratio of 1.59 (95% CI: 1.05-2.41) in the first GRS quartile to 1.91 (95% CI: 1.28-2.86) in the fourth GRS quartile. Using summary statistics, we found no genetic overlap between CAD and AD. We did, however, find that both AD and CAD share a significant genetic overlap with lipids, but that the overlap arose from clearly distinct gene clusters. In conclusion, genetic susceptibility to CAD was found to modify the association between CVD and dementia, most likely through associations with shared risk factors.
Notes
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PubMed ID
28556832 View in PubMed
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The rs12917707 polymorphism at the UMOD locus and glomerular filtration rate in individuals with type 2 diabetes: evidence of heterogeneity across two different European populations.

https://arctichealth.org/en/permalink/ahliterature290770
Source
Nephrol Dial Transplant. 2017 Oct 01; 32(10):1718-1722
Publication Type
Journal Article
Date
Oct-01-2017
Author
Sabrina Prudente
Rosa Di Paola
Massimiliano Copetti
Daniela Lucchesi
Olga Lamacchia
Serena Pezzilli
Luana Mercuri
Federica Alberico
Laura Giusti
Monia Garofolo
Giuseppe Penno
Mauro Cignarelli
Salvatore De Cosmo
Vincenzo Trischitta
Author Affiliation
Mendel Laboratory, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.
Source
Nephrol Dial Transplant. 2017 Oct 01; 32(10):1718-1722
Date
Oct-01-2017
Language
English
Publication Type
Journal Article
Keywords
Alleles
Cohort Studies
Diabetes Mellitus, Type 2 - ethnology - genetics - physiopathology
European Continental Ancestry Group - genetics
Female
Genotype
Glomerular Filtration Rate
Humans
Italy - epidemiology
Male
Middle Aged
Polymorphism, Single Nucleotide
Sweden - epidemiology
Uromodulin - genetics
Abstract
UMOD variability has been associated at a genome-wide level of statistical significance with glomerular filtration rate (GFR) in Swedish individuals with type 2 diabetes (T2D; n = 4888). Whether this finding is extensible also to diabetic patients from other populations deserves further study. Our aim was to investigate the relationship between UMOD variability and GFR in patients with T2D from Italy.
Genotyping of the single nucleotide polymorphism (SNP) rs12917707 at the UMOD locus has been carried out in 3087 individuals from four independent Italian cohorts of patients with T2D by TaqMan allele discrimination.
In none of the four study cohorts was rs12917707 significantly associated with GFR (P > 0.05 for all). Similar results were obtained when the four samples were pooled and analyzed together (ß = 0.83, P = 0.19). Such effect was strikingly smaller than that previously reported in Swedish patients (P for heterogeneity = 1.21 × 10-7).
The previously reported strong association between rs12917707 and GFR in diabetic patients from Sweden is not observed in Italian diabetic patients, thus clearly pointing to a heterogeneous effect across the two different samples. This suggests that UMOD is a strong genetic determinant of kidney function in patients with T2D in some, but not all, populations.
PubMed ID
27448670 View in PubMed
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Adipokine genes and radiographic hand osteoarthritis in Finnish women: a cross-sectional study.

https://arctichealth.org/en/permalink/ahliterature290972
Source
Scand J Rheumatol. 2018 Jan; 47(1):71-78
Publication Type
Journal Article
Date
Jan-2018
Author
S Hämäläinen
S Solovieva
T Vehmas
A Hirvonen
P Leino-Arjas
Author Affiliation
a Finnish Institute of Occupational Health , Helsinki , Finland.
Source
Scand J Rheumatol. 2018 Jan; 47(1):71-78
Date
Jan-2018
Language
English
Publication Type
Journal Article
Keywords
Adipokines - genetics
Alleles
Cross-Sectional Studies
Female
Finland
Genetic Predisposition to Disease
Genotype
Hand - pathology
Humans
Middle Aged
Osteoarthritis - genetics
Polymerase Chain Reaction
Polymorphism, Single Nucleotide
Abstract
Available evidence suggests that genetic factors and overweight play major roles in the aetiology of osteoarthritis (OA). We analysed the association of 18 single-nucleotide polymorphisms (SNPs) from nine adipokine and adipokine receptor genes (LEP, LEPR, ADIPOQ, RETN, NAMPT, SERPINA12, ITLN1, RARRES2, and APLN) with radiographic hand OA.
The study design was cross-sectional. Bilateral hand radiographs of 542 occupationally active Finnish female dentists and teachers aged 45-63 years were examined and classified for the presence of hand OA using reference images. Hand OA was defined as at least three finger joints with radiographic OA of grade 2-4. The genotypes were determined using polymerase chain reaction-based methods. Body mass index (BMI) was calculated based on self-reported height and measured weight. Associations of the individual SNPs and their haplotypes with hand OA were tested using logistic regression analysis.
The minor allele of RETN rs10401670 was associated with a decreased [odds ratio (OR) = 0.73, 95% confidence interval (CI) 0.55-0.97, p = 0.03] and RARRES2 rs4721 with an increased (OR 1.41, 95% CI 1.07-1.87, p = 0.01) prevalence of hand OA. Also, LEPR AC (OR 1.54, 95% CI 1.01-2.35, p = 0.05) and RETN GGTT (OR 0.58, 95% CI 0.37-0.93, p = 0.02) haplotypes were associated with hand OA. These associations were modified by BMI when comparing normal and overweight women. However, the associations lost their statistical significance after adjusting for multiple testing.
Our results suggest weak associations between the studied variations in LEPR, RARRES2, and RETN genes and hand OA in Finnish women, and that the associations are modified by BMI. However, these associations could not be verified in the current study.
PubMed ID
28812414 View in PubMed
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Osteoprotegerin plasma levels are strongly associated with polymorphisms in human homologue of the mouse progressive ankylosis (ANKH) gene.

https://arctichealth.org/en/permalink/ahliterature166241
Source
Ann Hum Genet. 2007 May;71(Pt 3):302-7
Publication Type
Article
Date
May-2007
Author
Y. Vistoropsky
I. Malkin
E. Kobyliansky
G. Livshits
Author Affiliation
Human Population Biology Research Unit, Department of Anatomy and Anthropology, Tel-Aviv University, Tel-Aviv, Israel.
Source
Ann Hum Genet. 2007 May;71(Pt 3):302-7
Date
May-2007
Language
English
Publication Type
Article
Keywords
Adult
Aged
Animals
Ankylosis - blood - genetics
Bone Remodeling - genetics
Ethnic Groups - genetics
Female
Haplotypes
Humans
Male
Membrane Proteins - genetics
Mice
Middle Aged
Osteoprotegerin - blood - genetics
Phosphate Transport Proteins - genetics
Polymorphism, Single Nucleotide
Russia
Abstract
Osteoprotegerin inhibits osteoclastogenesis and plays an important role in the control of bone resorption. However, the genetic mechanisms underlying regulation of OPG levels are currently not fully elucidated. The aim of the present study was to determine whether the ANKH gene, which plays a central role in bone mineralization, contributes to the genetic regulation of OPG levels. A family-based association study used a sample of 159 ethnically homogeneous nuclear families, comprising 556 apparently healthy individuals. Statistical analyses included family aggregation analysis of OPG variation and four types of transmission disequilibrium tests. Each individual was genotyped for 11 SNPs in the ANKH gene. Four TDTs consistently showed a highly significant association between OPG levels and the intronic SNP rs875525 located between exons 6 and 7. The combined p-value for four tests to reject the null hypothesis of no association was 0.0003. Furthermore, haplotypes generated between rs875525 and two additional neighbouring SNPs (rs2291943 and rs2288474) also revealed a significant association with OPG plasma levels (p
PubMed ID
17147692 View in PubMed
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KLF6 IVS1 -27G>A variant and the risk of prostate cancer in Finland.

https://arctichealth.org/en/permalink/ahliterature166371
Source
Eur Urol. 2007 Oct;52(4):1076-81
Publication Type
Article
Date
Oct-2007
Author
Eija H Seppälä
Ville Autio
Priya Duggal
Tarja Ikonen
Ulf-Håkan Stenman
Anssi Auvinen
Joan E Bailey-Wilson
Teuvo L J Tammela
Johanna Schleutker
Author Affiliation
Laboratory of Cancer Genetics, Institute of Medical Technology, University of Tampere and Tampere University Hospital, University of Tampere, Finland.
Source
Eur Urol. 2007 Oct;52(4):1076-81
Date
Oct-2007
Language
English
Publication Type
Article
Keywords
Adenine
Finland - epidemiology
Genetic Variation
Genotype
Germ-Line Mutation
Guanine
Humans
Kruppel-Like Transcription Factors - blood - genetics
Male
Polymorphism, Single Nucleotide
Prostatic Hyperplasia - epidemiology - genetics
Prostatic Neoplasms - epidemiology - genetics
Proto-Oncogene Proteins - blood - genetics
Risk factors
Tumor Suppressor Proteins - genetics
Abstract
A recent report demonstrated that KLF6 IVS1 -27G>A substitution increases the transcription of alternatively spliced isoforms; this action was suggested to be associated with prostate cancer (pCA). To evaluate these findings among the Finnish population, a total of 3348 samples were analysed.
The variant was genotyped in 164 patients with familial pCA, 852 patients with unselected pCA, 459 patients with benign prostate hyperplasia (BPH), 923 male population controls, and 950 men from a Finnish prostate-specific antigen (PSA) screening trial with PSA levels less than 1.0ng/ml. Odds ratios (ORs) and corresponding 95% confidence intervals (95%CIs) were calculated by using logistic regression to estimate pCA risk.
Association testing revealed no significant differences between familial prostate cancer patients and population controls (OR: 0.84; 95%CI, 0.56-1.28; p=0.42), unselected cases and controls (OR: 0.95; 95%CI, 0.76-1.19; p=0.63), or BPH cases and controls (OR: 1.12; 95%CI, 0.86-1.46; p=0.39). pCA and BPH cases were also compared with PSA-screened controls. None of these analyses revealed any significant associations.
Our results do not support the suggested association of KLF6 IVS1 -27G>A germline polymorphism with pCA risk and also suggest that the variant is not a risk allele for BPH in the Finnish population.
PubMed ID
17125911 View in PubMed
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Testing of variants of the MTHFR and ESR1 genes in 1798 Finnish individuals fails to confirm the association with migraine with aura.

https://arctichealth.org/en/permalink/ahliterature166442
Source
Cephalalgia. 2006 Dec;26(12):1462-72
Publication Type
Article
Date
Dec-2006
Author
M A Kaunisto
M. Kallela
E. Hämäläinen
R. Kilpikari
H. Havanka
H. Harno
M. Nissilä
E. Säkö
M. Ilmavirta
J. Liukkonen
H. Teirmaa
O. Törnwall
M. Jussila
J. Terwilliger
M. Färkkilä
J. Kaprio
A. Palotie
M. Wessman
Author Affiliation
Biomedicum Helsinki, Research Program in Molecular Medicine and Department of Clinical Chemistry, University of Helsinki, 00029 HUS, Helsinki, Finland.
Source
Cephalalgia. 2006 Dec;26(12):1462-72
Date
Dec-2006
Language
English
Publication Type
Article
Keywords
Estrogen Receptor alpha - genetics
Female
Finland
Genetic Predisposition to Disease
Humans
Linkage Disequilibrium
Male
Methylenetetrahydrofolate Reductase (NADPH2) - genetics
Middle Aged
Migraine with Aura - genetics
Polymorphism, Single Nucleotide
Abstract
Among the few independently replicated genetic associations in migraine are polymorphisms in the methylenetetrahydrofolate reductase (MTHFR) and oestrogen receptor (ESR1) genes. We studied the contribution of these genes to migraine susceptibility by genotyping six MTHFR and 26 ESR1 polymorphisms in 898 unrelated migraine with aura (MA) patients and in 900 unrelated healthy controls. There were no differences in the genotype distributions of the previously migraine-associated SNPs C677T (MTHFR) and G2014A (ESR1) between cases and controls (P-values 0.83 and 0.55, respectively). Thus, we were not able to replicate the previous findings, although our study had considerable power. However, five of the ESR1 SNPs (rs6557170, rs2347867, rs6557171, rs4870062 and rs1801132) that were in strong linkage disequilibrium were nominally associated with MA (uncorrected P-values 0.007-0.034). These results did not, however, remain significant after taking multiple testing into account. Thus it seems unlikely that the studied genes are involved in migraine susceptibility, at least in this sample.
PubMed ID
17116097 View in PubMed
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Alcoholism is associated with GALR3 but not two other galanin receptor genes.

https://arctichealth.org/en/permalink/ahliterature166751
Source
Genes Brain Behav. 2007 Jul;6(5):473-81
Publication Type
Article
Date
Jul-2007
Author
I. Belfer
H. Hipp
A. Bollettino
C. McKnight
C. Evans
M. Virkkunen
B. Albaugh
M B Max
D. Goldman
M A Enoch
Author Affiliation
Pain and Neurosensory Mechanisms Branch, National Institute of Dental and Craniofacial Research, National Institute on Alcohol Abuse and Alcoholism, National Institutes of Health, DHHS, Bethesda, MD 20892, USA. ibelfer@mail.nih.gov
Source
Genes Brain Behav. 2007 Jul;6(5):473-81
Date
Jul-2007
Language
English
Publication Type
Article
Keywords
Adult
Alcoholism - genetics
Analysis of Variance
Case-Control Studies
Finland
Genetic Predisposition to Disease - genetics
Haplotypes
Humans
Linkage Disequilibrium
Male
Odds Ratio
Polymorphism, Single Nucleotide
Receptor, Galanin, Type 1 - genetics
Receptor, Galanin, Type 2 - genetics
Receptor, Galanin, Type 3 - genetics
Reference Values
Risk factors
Abstract
The neuropeptide galanin is widely expressed in the periphery and the central nervous system and mediates diverse physiological processes and behaviors including alcohol abuse, depression and anxiety. Four genes encoding galanin and its receptors have been identified (GAL, GALR1, GALR2 and GALR3). Recently we found that GAL haplotypes were associated with alcoholism, raising the possibility that genetic variation in GALR1, GALR2 and GALR3 might also alter alcoholism risk. Tag single nucleotide polymorphisms (SNPs) were identified by genotyping SNP panels in controls from five populations. For the association study with alcoholism, six GALR1, four GALR2 and four GALR3 SNPs were genotyped in a large cohort of Finnish alcoholics and non-alcoholics. GALR3 showed a significant association with alcoholism that was driven by one SNP (rs3,091,367). Moreover, the combination of the GALR3 rs3,091,367 risk allele and GAL risk haplotypes led to a modestly increased odds ratio (OR) for alcoholism (2.4) as compared with the effect of either GAL (1.9) or GALR3 alone (1.4). Likewise, the combination of the GALR3 and GAL risk diplotypes led to an increased OR for alcoholism (4.6) as compared with the effect of either GAL (2.0) or GALR3 alone (1.6). There was no effect of GALR1 or GALR2 on alcoholism risk. This evidence suggests that GALR3 mediates the alcoholism-related actions of galanin.
PubMed ID
17083333 View in PubMed
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2013 records – page 1 of 202.