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Analysis of DPP6 and FGGY as candidate genes for amyotrophic lateral sclerosis.

https://arctichealth.org/en/permalink/ahliterature146774
Source
Amyotroph Lateral Scler. 2010 Aug;11(4):389-91
Publication Type
Article
Date
Aug-2010
Author
Hussein Daoud
Paul N Valdmanis
Patrick A Dion
Guy A Rouleau
Author Affiliation
Centre of Excellence in Neuromics, Université de Montréal, Montreal, Quebec, Canada.
Source
Amyotroph Lateral Scler. 2010 Aug;11(4):389-91
Date
Aug-2010
Language
English
Publication Type
Article
Keywords
Amyotrophic Lateral Sclerosis - genetics
Canada
Cohort Studies
DNA Mutational Analysis
Dipeptidyl-Peptidases and Tripeptidyl-Peptidases - genetics
European Continental Ancestry Group
Gene Frequency
Genotype
Humans
Nerve Tissue Proteins - genetics
Polymorphism, Single Nucleotide - genetics
Potassium Channels - genetics
Proteins - genetics
Abstract
DPP6 and FGGY genes have been recently associated with an increased susceptibility for sporadic amyotrophic lateral sclerosis. Here, we evaluated the role of these genes in ALS pathogenesis by undertaking a sequence analysis of a cohort of 190 ALS patients from France and Quebec. We did not observe any evidence that mutations in DPP6 and FGGY genes are involved in ALS. Our data indicate that mutations in these genes are unlikely to be a common cause of ALS in the French and French Canadian populations.
PubMed ID
20001489 View in PubMed
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Analysis of ELP4, SRPX2, and interacting genes in typical and atypical rolandic epilepsy.

https://arctichealth.org/en/permalink/ahliterature256709
Source
Epilepsia. 2014 Aug;55(8):e89-93
Publication Type
Article
Date
Aug-2014
Author
Eva M Reinthaler
Dennis Lal
Wiktor Jurkowski
Martha Feucht
Hannelore Steinböck
Ursula Gruber-Sedlmayr
Gabriel M Ronen
Julia Geldner
Edda Haberlandt
Birgit Neophytou
Andreas Hahn
Janine Altmüller
Holger Thiele
Mohammad R Toliat
Holger Lerche
Peter Nürnberg
Thomas Sander
Bernd A Neubauer
Fritz Zimprich
Author Affiliation
Department of Neurology, Medical University of Vienna, Vienna, Austria.
Source
Epilepsia. 2014 Aug;55(8):e89-93
Date
Aug-2014
Language
English
Publication Type
Article
Keywords
Austria - epidemiology
Canada - epidemiology
Child
Epilepsy, Rolandic - diagnosis - epidemiology - genetics
Female
Genetic Variation - genetics
Germany - epidemiology
Humans
Male
Nerve Tissue Proteins - genetics
Polymorphism, Single Nucleotide - genetics
Abstract
Rolandic epilepsy (RE) and its atypical variants (atypical rolandic epilepsy, ARE) along the spectrum of epilepsy-aphasia disorders are characterized by a strong but largely unknown genetic basis. Two genes with a putative (ELP4) or a proven (SRPX2) function in neuronal migration were postulated to confer susceptibility to parts of the disease spectrum: the ELP4 gene to centrotemporal spikes and SRPX2 to ARE. To reexamine these findings, we investigated a cohort of 280 patients of European ancestry with RE/ARE for the etiological contribution of these genes and their close interaction partners. We performed next-generation sequencing and single-nucleotide polymorphism (SNP)-array based genotyping to screen for sequence and structural variants. In comparison to European controls we could not detect an enrichment of rare deleterious variants of ELP4, SRPX2, or their interaction partners in affected individuals. The previously described functional p.N327S variant in the X chromosomal SRPX2 gene was detected in two affected individuals (0.81%) and also in controls (0.26%), with some preponderance of male patients. We did not detect an association of SNPs in the ELP4 gene with centrotemporal spikes as previously reported. In conclusion our data do not support a major role of ELP4 and SRPX2 in the etiology of RE/ARE.
PubMed ID
24995671 View in PubMed
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Analysis of FMR1 (CGG)n alleles and FRAXA microsatellite haplotypes in the population of Greenland: implications for the population of the New World from Asia.

https://arctichealth.org/en/permalink/ahliterature33073
Source
Eur J Hum Genet. 1999 Oct-Nov;7(7):771-7
Publication Type
Article
Author
L A Larsen
J S Armstrong
K. Grønskov
H. Hjalgrim
K. Brøndum-Nielsen
L. Hasholt
B. Nørgaard-Pedersen
J. Vuust
Author Affiliation
Department of Clinical Biochemistry, Statens Serum Institut, Copenhagen, Denmark. lal@ssi.dk
Source
Eur J Hum Genet. 1999 Oct-Nov;7(7):771-7
Language
English
Publication Type
Article
Keywords
Alleles
Asia
Asian Continental Ancestry Group - genetics
Child
Child, Preschool
Family
Female
Fragile X Mental Retardation Protein
Fragile X Syndrome - ethnology - genetics
Gene Frequency
Genetics, Population
Greenland
Haplotypes
Humans
Infant, Newborn
Inuits - genetics
Male
Nerve Tissue Proteins - genetics
Pedigree
RNA-Binding Proteins
Research Support, Non-U.S. Gov't
Sequence Analysis, DNA
Trinucleotide Repeats - genetics
Abstract
The fragile X syndrome is caused by the expansion of a polymorphic (CGG)n tract in the promoter region of the FMR1 gene. Apparently the incidence of fragile X syndrome is rare in the population of Greenland. In order to examine population-related factors involved in stability of the (CGG)n sequence, DNA samples obtained randomly from the Greenlandic population were analysed for size and AGG interspersion pattern of the FMR1 (CGG)n region and associated DXS548-FRAXAC1 haplotypes. In addition a large Greenland family with unstable transmission in the premutation range was analysed. The (CGG)n allele sizes in the Greenland population showed a narrow distribution similar to that reported for Asian populations. DNA sequencing of alleles with 36 CGG repeats revealed an AGG(CGG)6 insertion previously reported exclusively in Asian populations and a high frequency of alleles with a (CGG)10AGG(CGG)9AGG(CGG)9 or (CGG)9AGG(CGG)9AGG(CGG)6AGG(CGG)9 sequence pattern was found. Thus the data confirm the Asian origin of the Greenlandic (Eskimo) population and indicates that some (CGG)n alleles have remained stable for 15-30,000 years, since the population of the New World arrived from Asia via the Bering Strait.
PubMed ID
10573009 View in PubMed
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[An analysis of chimeric SMN genes--new possibilities in the study of the molecular genetic nature of mutations and in the diagnosis of spinal muscular atrophy (SMA)]

https://arctichealth.org/en/permalink/ahliterature33178
Source
Tsitol Genet. 1999 May-Jun;33(3):21-6
Publication Type
Article
Author
A Iu Ekshiian
L A Livshits
Source
Tsitol Genet. 1999 May-Jun;33(3):21-6
Language
Russian
Publication Type
Article
Keywords
Base Sequence
Child
DNA - genetics
DNA Primers
English Abstract
Exons - genetics
Gene Deletion
Homozygote
Humans
Molecular Biology
Molecular Sequence Data
Motor Neurons - physiology
Mutation - genetics
Nerve Tissue Proteins - genetics
Polymerase Chain Reaction - methods
Recombinant Fusion Proteins - genetics
Research Support, Non-U.S. Gov't
Risk factors
Spinal Muscular Atrophies of Childhood - diagnosis - genetics
Ukraine
Abstract
Results of analysis of chimeric SMN genes among some high SMA-risk families from Ukraine using the EcoRV and DdeI restriction enzyme hydrolysis of PCR products is presented. Chimeric cen/telSMN gene was detected in probands with homozygous deletions of telSMN exon 7 only, as well in proband with absent of homozygous deletion of exons 7 and/or 8 of the SMN gene. Effectivity of approach of detection of chimeric SMN genes based on the EcoRV and DdeI restriction enzyme analysis of PCR products and mechanisms of formation of chimeric SMN genes are discussed.
PubMed ID
10474859 View in PubMed
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An interaction between NDE1 and high birth weight increases schizophrenia susceptibility.

https://arctichealth.org/en/permalink/ahliterature273909
Source
Psychiatry Res. 2015 Dec 15;230(2):194-9
Publication Type
Article
Date
Dec-15-2015
Author
Asko Wegelius
Maiju Pankakoski
Liisa Tomppo
Ulriika Lehto
Jouko Lönnqvist
Jaana Suvisaari
Tiina Paunio
William Hennah
Source
Psychiatry Res. 2015 Dec 15;230(2):194-9
Date
Dec-15-2015
Language
English
Publication Type
Article
Keywords
Adult
Aged
Birth Weight - genetics
Cohort Studies
Disease Susceptibility
Female
Finland - epidemiology
Haplotypes - genetics
Humans
Male
Microtubule-Associated Proteins - genetics
Middle Aged
Nerve Tissue Proteins - genetics
Polymorphism, Single Nucleotide - genetics
Retrospective Studies
Schizophrenia - diagnosis - epidemiology - genetics
Abstract
Pre- and perinatal environmental factors have been shown to increase schizophrenia risk particularly when combined with genetic liability. The investigation of specific gene environment interactions in the etiology of psychiatric disorders has gained momentum. We used multivariate GEE regression modeling to investigate the interaction between genes of the DISC1 pathway and birth weight, in relation to schizophrenia susceptibility in a Finnish schizophrenia family cohort. The study sample consisted of 457 subjects with both genotype and birth weight information. Gender and place of birth were adjusted for in the models. We found a significant interaction between birth weight and two NDE1 markers in relation to increased schizophrenia risk: a four SNP haplotype spanning NDE1 (b=1.26, SE=0.5, p=0.012) and one of its constituent SNPs rs4781678 (b=1.33, SE=0.51, p=0.010). Specifically, high birth weight (>4000g) was associated with increased schizophrenia risk among subjects homozygous for the previously identified risk alleles. The study was based on a family study sample with high genetic loading for schizophrenia and thus our findings cannot directly be generalized as representing the general population. Our results suggest that the functions mediated by NDE1 during the early stages of neurodevelopment are susceptible to the additional disruptive effects of pre- and perinatal environmental factors associated with high birth weight, augmenting schizophrenia susceptibility.
PubMed ID
26350705 View in PubMed
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Applicability of a checklist for clinical screening of the fragile X syndrome.

https://arctichealth.org/en/permalink/ahliterature206846
Source
Clin Genet. 1997 Oct;52(4):211-5
Publication Type
Article
Date
Oct-1997
Author
M. Arvio
M. Peippo
K O Simola
Author Affiliation
Pääjärvi Centre, Lammi, Hospital for Children and Adolescents, Pediatric Neurology, University of Helsinki, Finland.
Source
Clin Genet. 1997 Oct;52(4):211-5
Date
Oct-1997
Language
English
Publication Type
Article
Keywords
Adolescent
Adult
Aged
Algorithms
Finland - epidemiology
Fragile X Mental Retardation Protein
Fragile X Syndrome - diagnosis - epidemiology - genetics
Gene Frequency
Genetic Testing - methods
Humans
Intellectual Disability - epidemiology - genetics
Male
Middle Aged
Nerve Tissue Proteins - genetics
Phenotype
Prevalence
RNA-Binding Proteins
Abstract
In a population of 340,000 in Southern Häme, Finland, there were 541 intellectually disabled adult males (> 16 years) known to the District Organisation for the Care of the Mentally Retarded in August 1993. Of these, 197 already had a confirmed etiological diagnosis, with 20 having the fragile X syndrome. The other 344 males were screened for the fragile X syndrome using a three-step method: a clinical checklist used by a specialist nurse, a clinical examination by a physician who was very familiar with the fragile X syndrome, and the FRAXA-locus gene test. Six new fragile X males were found. The minimum prevalence of the fragile X syndrome in the district was calculated to be 1:4400.
PubMed ID
9383025 View in PubMed
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ARNTL (BMAL1) and NPAS2 gene variants contribute to fertility and seasonality.

https://arctichealth.org/en/permalink/ahliterature144427
Source
PLoS One. 2010;5(4):e10007
Publication Type
Article
Date
2010
Author
Leena Kovanen
Sirkku T Saarikoski
Arpo Aromaa
Jouko Lönnqvist
Timo Partonen
Author Affiliation
Department of Mental Health and Substance Abuse Services, National Institute for Health and Welfare, Helsinki, Finland.
Source
PLoS One. 2010;5(4):e10007
Date
2010
Language
English
Publication Type
Article
Keywords
ARNTL Transcription Factors - genetics
Basic Helix-Loop-Helix Transcription Factors - genetics
Circadian Rhythm
Energy Metabolism
Female
Fertility - genetics
Finland
Genotype
Humans
Male
Nerve Tissue Proteins - genetics
Polymorphism, Single Nucleotide
Reproduction - genetics
Seasons
Abstract
Circadian clocks guide the metabolic, cell-division, sleep-wake, circadian and seasonal cycles. Abnormalities in these clocks may be a health hazard. Circadian clock gene polymorphisms have been linked to sleep, mood and metabolic disorders. Our study aimed to examine polymorphisms in four key circadian clock genes in relation to seasonal variation, reproduction and well-being in a sample that was representative of the general population, aged 30 and over, living in Finland.
Single-nucleotide polymorphisms in the ARNTL, ARNTL2, CLOCK and NPAS2 genes were genotyped in 511 individuals. 19 variants were analyzed in relation to 31 phenotypes that were assessed in a health interview and examination study. With respect to reproduction, women with ARNTL rs2278749 TT genotype had more miscarriages and pregnancies, while NPAS2 rs11673746 T carriers had fewer miscarriages. NPAS2 rs2305160 A allele carriers had lower Global Seasonality Scores, a sum score of six items i.e. seasonal variation of sleep length, social activity, mood, weight, appetite and energy level. Furthermore, carriers of A allele at NPAS2 rs6725296 had greater loadings on the metabolic factor (weight and appetite) of the global seasonality score, whereas individuals with ARNTL rs6290035 TT genotype experienced less seasonal variation of energy level.
ARNTL and NPAS2 gene variants were associated with reproduction and with seasonal variation. Earlier findings have linked ARNTL to infertility in mice, but this is the first time when any polymorphism of these genes is linked to fertility in humans.
Notes
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PubMed ID
20368993 View in PubMed
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Assignment of the locus for PLO-SL, a frontal-lobe dementia with bone cysts, to 19q13.

https://arctichealth.org/en/permalink/ahliterature205997
Source
Am J Hum Genet. 1998 Feb;62(2):362-72
Publication Type
Article
Date
Feb-1998
Author
P. Pekkarinen
I. Hovatta
P. Hakola
O. Järvi
M. Kestilä
U. Lenkkeri
R. Adolfsson
G. Holmgren
P O Nylander
L. Tranebjaerg
J D Terwilliger
J. Lönnqvist
L. Peltonen
Author Affiliation
Department of Human Molecular Genetics, Institute of Biomedicine, University of Helsinki, Helsinki, Finland.
Source
Am J Hum Genet. 1998 Feb;62(2):362-72
Date
Feb-1998
Language
English
Publication Type
Article
Keywords
Adolescent
Adult
Amyloid beta-Protein Precursor - genetics
Bone Cysts - epidemiology - genetics - mortality
Chromosome Mapping
Chromosomes, Human, Pair 19
Dementia - epidemiology - genetics - mortality
Family
Female
Finland - epidemiology
Frontal Lobe
Genes, Recessive
Genetic Linkage
Genetic markers
Humans
Male
Middle Aged
Nerve Tissue Proteins - genetics
Pedigree
Polymorphism, Single-Stranded Conformational
Prevalence
Abstract
PLO-SL (polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy) is a recessively inherited disorder characterized by systemic bone cysts and progressive presenile frontal-lobe dementia, resulting in death at
Notes
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PubMed ID
9463329 View in PubMed
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Association between a disrupted-in-schizophrenia 1 (DISC1) single nucleotide polymorphism and schizophrenia in a combined Scandinavian case-control sample.

https://arctichealth.org/en/permalink/ahliterature155007
Source
Schizophr Res. 2008 Dec;106(2-3):237-41
Publication Type
Article
Date
Dec-2008
Author
Peter Saetre
Ingrid Agartz
Alessandra De Franciscis
Per Lundmark
Srdjan Djurovic
Anna Kähler
Ole A Andreassen
Klaus D Jakobsen
Henrik B Rasmussen
Thomas Werge
Håkan Hall
Lars Terenius
Erik G Jönsson
Author Affiliation
Department of Clinical Neuroscience, HUBIN project, Karolinska Institutet and Hospital, R5:00, SE-171 76 Stockholm, Sweden. peter.saetre@ki.se
Source
Schizophr Res. 2008 Dec;106(2-3):237-41
Date
Dec-2008
Language
English
Publication Type
Article
Keywords
Adult
Case-Control Studies
Chromosome Mapping
European Continental Ancestry Group - genetics
Female
Gene Frequency
Genetic Predisposition to Disease - genetics
Genotype
Humans
Male
Middle Aged
Mutation - genetics
Nerve Tissue Proteins - genetics
Pedigree
Polymorphism, Single Nucleotide - genetics
Risk factors
Scandinavia - ethnology
Schizophrenia - genetics
Abstract
Disrupted-in-schizophrenia-1 (DISC1), located on chromosome 1q42.1, is linked to rare familial schizophrenia in a large Scottish family. The chromosomal translocation that segregates with the disease results in a truncated protein that impairs neurite outgrowth and proper development of the cerebral cortex, suggesting that lost DISC1 function may underlie neurodevelopmental dysfunction in schizophrenia. DISC1 has been associated with schizophrenia in multiple populations, but there is little evidence of convergence across populations. In the present case-control study three Scandinavian samples of 837 individuals affected with schizophrenia and 1473 controls, were used in an attempt to replicate previously reported associations between single nucleotide polymorphisms (SNPs) in DISC1 and schizophrenia. No SNP with allele frequency above 10% was significantly associated with the disease after correction for multiple testing. However, the minor allele of rs3737597 (frequency 2%) in the 3'-untranslated region (UTR), previously identified as a risk allele in Finnish families, was significantly and consistently associated with the disorder across the three samples, (p-value corrected for multiple testing was 0.002). Our results suggest that a relatively uncommon DISC1 mutation, which increases the susceptibility for schizophrenia may be segregating in the Scandinavian population, and support the view that common DISC1 SNP alleles are unlikely to account for a substantial proportion of the genetic risk of the disease across populations of European descent.
PubMed ID
18818052 View in PubMed
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107 records – page 1 of 11.