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  1. Article ; Online: Confirmation of high frequency of C9orf72 mutations in patients with frontotemporal dementia from Sweden.

    Öijerstedt, Linn / Chiang, Huei-Hsin / Björkström, Jenny / Forsell, Charlotte / Lilius, Lena / Lindström, Anna-Karin / Thonberg, Håkan / Graff, Caroline

    Neurobiology of aging

    2019  Volume 84, Page(s) 241.e21–241.e25

    Abstract: Frontotemporal dementia (FTD) is the second most common early-onset dementia. Up to half of the cases are familial, and several mutations have been identified as pathogenic. Repeat expansion mutations in C9orf72 are the most common genetic cause of FTD ... ...

    Abstract Frontotemporal dementia (FTD) is the second most common early-onset dementia. Up to half of the cases are familial, and several mutations have been identified as pathogenic. Repeat expansion mutations in C9orf72 are the most common genetic cause of FTD and are particularly frequent in Sweden and Finland. We aimed to determine the mutation frequency in patients with FTD ascertained at a memory clinic in Sweden and assess the inheritance pattern in the families. We screened 132 patients with FTD for mutations in C9orf72, GRN, and MAPT, and the frequency was 34.1%. Two novel variations, not previously published, were found; a pathogenic GRN mutation and a MAPT variation in intron 9 that we report as VUS. The likelihood of finding a mutation was highest in patients with a clear family history of dementia or motor neuron disease (76%), but mutations were also found in apparent sporadic cases. This confirms that FTD cohorts from Sweden have a relatively higher risk of an underlying mutation in all risk categories compared with other reported cohorts.
    MeSH term(s) C9orf72 Protein/genetics ; Frontotemporal Dementia/genetics ; Humans ; Mutation ; Porphyria, Acute Intermittent
    Chemical Substances C9orf72 Protein ; C9orf72 protein, human
    Language English
    Publishing date 2019-03-27
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 604505-4
    ISSN 1558-1497 ; 0197-4580
    ISSN (online) 1558-1497
    ISSN 0197-4580
    DOI 10.1016/j.neurobiolaging.2019.03.009
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  2. Article ; Online: No common founder for C9orf72 expansion mutation in Sweden.

    Chiang, Huei-Hsin / Forsell, Charlotte / Lindström, Anna-Karin / Lilius, Lena / Thonberg, Håkan / Nennesmo, Inger / Graff, Caroline

    Journal of human genetics

    2017  Volume 62, Issue 2, Page(s) 321–324

    Abstract: Hexanucleotide expansion mutations in the chromosome 9 open reading frame 72 (C9orf72) gene is the most common genetic cause for frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). SNP haplotype analyses have suggested that all C9orf72 ...

    Abstract Hexanucleotide expansion mutations in the chromosome 9 open reading frame 72 (C9orf72) gene is the most common genetic cause for frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). SNP haplotype analyses have suggested that all C9orf72 expansion mutations originate from a common founder. However, not all C9orf72 expansion mutation carriers have the same haplotype. To investigate if the C9orf72 expansion mutation carriers in Sweden share a common founder, we have genotyped SNPs flanking the C9orf72 expansion mutation in cases with FTD, FTD-ALS or ALS to perform haplotype analysis. We have genotyped 57 SNPs in 232 cases of which 45 carried the C9orf72 expansion mutation. Two risk haplotypes consisting of 31 SNPs, spanning 131 kbp, were found to be significantly associated with the mutation. In summary, haplotype analysis on Swedish C9orf72 expansion mutation carriers indicates that the C9orf72 expansion mutation arose on at least two risk haplotypes.
    MeSH term(s) Adult ; Aged ; Aged, 80 and over ; Amyotrophic Lateral Sclerosis/genetics ; C9orf72 Protein ; DNA Repeat Expansion/genetics ; Female ; Frontotemporal Dementia/genetics ; Haplotypes/genetics ; Humans ; Male ; Middle Aged ; Polymorphism, Single Nucleotide/genetics ; Proteins/genetics ; Sweden
    Chemical Substances C9orf72 Protein ; C9orf72 protein, human ; Proteins
    Language English
    Publishing date 2017-02
    Publishing country England
    Document type Journal Article
    ZDB-ID 1425192-9
    ISSN 1435-232X ; 1434-5161
    ISSN (online) 1435-232X
    ISSN 1434-5161
    DOI 10.1038/jhg.2016.108
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  3. Article ; Online: Phenotypic variability and neuropsychological findings associated with C9orf72 repeat expansions in a Bulgarian dementia cohort.

    Mehrabian, Shima / Thonberg, Håkan / Raycheva, Margarita / Lilius, Lena / Stoyanova, Katya / Forsell, Charlotte / Cavallin, Lena / Nesheva, Desislava / Westman, Eric / Toncheva, Draga / Traykov, Latchezar / Winblad, Bengt / Graff, Caroline

    PloS one

    2018  Volume 13, Issue 12, Page(s) e0208383

    Abstract: Background: The GGGGCC repeat expansion in the C9orf72 gene was recently identified as a major cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) in several European populations. The objective of this study was to determine ... ...

    Abstract Background: The GGGGCC repeat expansion in the C9orf72 gene was recently identified as a major cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) in several European populations. The objective of this study was to determine the frequency of C9orf72 repeat expansions in a Bulgarian dementia cohort and to delineate the associated clinical features.
    Methods and findings: PCR-based assessments of the C9orf72 hexanucleotide repeat expansion in all study samples (including 82 FTD, 37 Alzheimer's disease (AD), and 16 other neurodegenerative/dementia disorder cases) were performed. We report the clinical, neuropsychological, and neuroimaging findings obtained for the C9orf72 repeat expansion carriers. Of the 135 cases screened, 3/82 (3.7%) of all FTD cases and 1/37 (2.7%) of all clinical AD cases had a C9orf72 repeat expansion. In this cohort, the C9orf72 pathological expansion was found in clinical diagnoses bridging the FTD, parkinsonism, ALS and AD spectrum. Interestingly, we showed early writing errors without aphasia in two subjects with C9orf72 expansions.
    Conclusions: This study represents the first genetic screening for C9orf72 repeat expansions in a Bulgarian dementia cohort. The C9orf72 repeat expansion does not appear to be a common cause of FTD and related disorders. This report confirms the notion that C9orf72 repeat expansions underlie a broad spectrum of neurodegenerative phenotypes. Relatively isolated agraphia in two cases with C9orf72 repeat expansions is a strong motivation to provide detailed and sophisticated oral and written language assessments that can be used to more precisely characterize early cognitive deficits in these heterogeneous conditions.
    MeSH term(s) Aged ; Bulgaria ; C9orf72 Protein/genetics ; DNA Repeat Expansion/genetics ; Dementia/genetics ; Dementia/physiopathology ; Female ; Humans ; Language ; Male ; Middle Aged ; Neuropsychological Tests ; Polymerase Chain Reaction/methods
    Chemical Substances C9orf72 Protein
    Language English
    Publishing date 2018-12-14
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ISSN 1932-6203
    ISSN (online) 1932-6203
    DOI 10.1371/journal.pone.0208383
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  4. Article ; Online: Linkage to the 8p21.1 region Including the CLU gene in age at onset stratified alzheimer's disease families.

    Sillén, Anna / Lilius, Lena / Forsell, Charlotte / Kimura, Toru / Winblad, Bengt / Graff, Caroline

    Journal of Alzheimer's disease : JAD

    2011  Volume 23, Issue 1, Page(s) 13–20

    Abstract: Two powerful genome-wide association studies have recently reported significant association between sporadic late-onset Alzheimer's disease (AD) and markers at the CLU locus in chromosome 8p. In this study, we have stratified our previously analyzed 109 ... ...

    Abstract Two powerful genome-wide association studies have recently reported significant association between sporadic late-onset Alzheimer's disease (AD) and markers at the CLU locus in chromosome 8p. In this study, we have stratified our previously analyzed 109 Swedish AD families according to range in age at onset and performed whole-genome linkage analysis and subsequent fine-mapping in 8p21. The subgroup analyzed in the fine-mapping consisted of 28 families with AD, having a within-family onset-range not exceeding 8 years and an age at onset between 49 ≤ 70 years. A maximum non-parametric linkage peak (LOD = 3.5) was found between markers D8S1809 and 236c6-1. Intriguingly this linked 9.5cM region contains clusterin (CLU), which is one of the two top susceptibility genes for AD. Our finding may be a reflection of linkage to the CLU susceptibility gene, in the same way as familial AD has previously been linked to the APOE locus.
    MeSH term(s) Age of Onset ; Aged ; Aged, 80 and over ; Alzheimer Disease/genetics ; Apolipoproteins E/genetics ; Chromosome Mapping/methods ; Chromosomes, Human, Pair 8 ; Clusterin/genetics ; Disease Susceptibility ; Family Health ; Female ; Genetic Linkage ; Genetic Predisposition to Disease ; Genome-Wide Association Study ; Humans ; Male ; Middle Aged ; Polymorphism, Genetic/genetics ; Sweden
    Chemical Substances Apolipoproteins E ; CLU protein, human ; Clusterin
    Language English
    Publishing date 2011
    Publishing country Netherlands
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 1440127-7
    ISSN 1875-8908 ; 1387-2877
    ISSN (online) 1875-8908
    ISSN 1387-2877
    DOI 10.3233/JAD-2010-101359
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  5. Article ; Online: Identification and description of three families with familial Alzheimer disease that segregate variants in the SORL1 gene.

    Thonberg, Håkan / Chiang, Huei-Hsin / Lilius, Lena / Forsell, Charlotte / Lindström, Anna-Karin / Johansson, Charlotte / Björkström, Jenny / Thordardottir, Steinunn / Sleegers, Kristel / Van Broeckhoven, Christine / Rönnbäck, Annica / Graff, Caroline

    Acta neuropathologica communications

    2017  Volume 5, Issue 1, Page(s) 43

    Abstract: Alzheimer disease (AD) is a progressive neurodegenerative disorder and the most common form of dementia. The majority of AD cases are sporadic, while up to 5% are families with an early onset AD (EOAD). Mutations in one of the three genes: amyloid beta ... ...

    Abstract Alzheimer disease (AD) is a progressive neurodegenerative disorder and the most common form of dementia. The majority of AD cases are sporadic, while up to 5% are families with an early onset AD (EOAD). Mutations in one of the three genes: amyloid beta precursor protein (APP), presenilin 1 (PSEN1) or presenilin 2 (PSEN2) can be disease causing. However, most EOAD families do not carry mutations in any of these three genes, and candidate genes, such as the sortilin-related receptor 1 (SORL1), have been suggested to be potentially causative. To identify AD causative variants, we performed whole-exome sequencing on five individuals from a family with EOAD and a missense variant, p.Arg1303Cys (c.3907C > T) was identified in SORL1 which segregated with disease and was further characterized with immunohistochemistry on two post mortem autopsy cases from the same family. In a targeted re-sequencing effort on independent index patients from 35 EOAD-families, a second SORL1 variant, c.3050-2A > G, was found which segregated with the disease in 3 affected and was absent in one unaffected family member. The c.3050-2A > G variant is located two nucleotides upstream of exon 22 and was shown to cause exon 22 skipping, resulting in a deletion of amino acids Gly1017- Glu1074 of SORL1. Furthermore, a third SORL1 variant, c.5195G > C, recently identified in a Swedish case control cohort included in the European Early-Onset Dementia (EU EOD) consortium study, was detected in two affected siblings in a third family with familial EOAD. The finding of three SORL1-variants that segregate with disease in three separate families with EOAD supports the involvement of SORL1 in AD pathology. The cause of these rare monogenic forms of EOAD has proven difficult to find and the use of exome and genome sequencing may be a successful route to target them.
    Language English
    Publishing date 2017-06-09
    Publishing country England
    Document type Journal Article
    ZDB-ID 2715589-4
    ISSN 2051-5960 ; 2051-5960
    ISSN (online) 2051-5960
    ISSN 2051-5960
    DOI 10.1186/s40478-017-0441-9
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  6. Article ; Online: Predicting Cognitive Decline across Four Decades in Mutation Carriers and Non-carriers in Autosomal-Dominant Alzheimer's Disease.

    Almkvist, Ove / Rodriguez-Vieitez, Elena / Thordardottir, Steinunn / Amberla, Kaarina / Axelman, Karin / Basun, Hans / Kinhult-Ståhlbom, Anne / Lilius, Lena / Remes, Anne / Wahlund, Lars-Olof / Viitanen, Matti / Lannfelt, Lars / Graff, Caroline

    Journal of the International Neuropsychological Society : JINS

    2017  Volume 23, Issue 3, Page(s) 195–203

    Abstract: Objectives: The aim of this study was to investigate cognitive performance including preclinical and clinical disease course in carriers and non-carriers of autosomal-dominant Alzheimer's disease (adAD) in relation to multiple predictors, that is, ... ...

    Abstract Objectives: The aim of this study was to investigate cognitive performance including preclinical and clinical disease course in carriers and non-carriers of autosomal-dominant Alzheimer's disease (adAD) in relation to multiple predictors, that is, linear and non-linear estimates of years to expected clinical onset of disease, years of education and age.
    Methods: Participants from five families with early-onset autosomal-dominant mutations (Swedish and Arctic APP, PSEN1 M146V, H163Y, and I143T) included 35 carriers (28 without dementia and 7 with) and 44 non-carriers. All participants underwent a comprehensive clinical evaluation, including neuropsychological assessment at the Memory Clinic, Karolinska University Hospital at Huddinge, Stockholm, Sweden. The time span of disease course covered four decades of the preclinical and clinical stages of dementia. Neuropsychological tests were used to assess premorbid and current global cognition, verbal and visuospatial functions, short-term and episodic memory, attention, and executive function.
    Results: In carriers, the time-related curvilinear trajectory of cognitive function across disease stages was best fitted to a formulae with three predictors: years to expected clinical onset (linear and curvilinear components), and years of education. In non-carriers, the change was minimal and best predicted by two predictors: education and age. The trajectories for carriers and non-carriers began to diverge approximately 10 years before the expected clinical onset in episodic memory, executive function, and visuospatial function.
    Conclusions: The curvilinear trajectory of cognitive functions across disease stages was mimicked by three predictors in carriers. In episodic memory, executive and visuospatial functions, the point of diverging trajectories occurred approximately 10 years ahead of the clinical onset compared to non-carriers. (JINS, 2017, 23, 195-203).
    MeSH term(s) Adult ; Aged ; Alzheimer Disease/complications ; Alzheimer Disease/genetics ; Amyloid beta-Protein Precursor/genetics ; Cognitive Dysfunction/diagnosis ; Cognitive Dysfunction/etiology ; Cognitive Dysfunction/genetics ; Cross-Sectional Studies ; Disease Progression ; Executive Function/physiology ; Family Health ; Female ; Heterozygote ; Humans ; Male ; Memory, Episodic ; Middle Aged ; Mutation/genetics ; Predictive Value of Tests ; Presenilin-1/genetics ; Sweden ; Visual Perception/genetics
    Chemical Substances Amyloid beta-Protein Precursor ; PSEN1 protein, human ; Presenilin-1
    Language English
    Publishing date 2017
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 1230632-0
    ISSN 1469-7661 ; 1355-6177
    ISSN (online) 1469-7661
    ISSN 1355-6177
    DOI 10.1017/S1355617716001028
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  7. Article ; Online: Linkage analysis of autopsy-confirmed familial Alzheimer disease supports an Alzheimer disease locus in 8q24.

    Sillén, Anna / Brohede, Jesper / Forsell, Charlotte / Lilius, Lena / Andrade, Jorge / Odeberg, Jacob / Kimura, Toru / Winblad, Bengt / Graff, Caroline

    Dementia and geriatric cognitive disorders

    2011  Volume 31, Issue 2, Page(s) 109–118

    Abstract: Background/aims: We have previously reported the results of an extended genome-wide scan of Swedish Alzheimer disease (AD)-affected families; in this paper, we analyzed a subset of these families with autopsy-confirmed AD.: Methods: We report the ... ...

    Abstract Background/aims: We have previously reported the results of an extended genome-wide scan of Swedish Alzheimer disease (AD)-affected families; in this paper, we analyzed a subset of these families with autopsy-confirmed AD.
    Methods: We report the fine-mapping, using both microsatellite markers and single-nucleotide polymorphisms (SNPs), in the observed maximum logarithm of the odds (LOD)-2 unit (LOD(max)-2) region under the identified linkage peak, linkage analysis of the fine-mapping data with additionally analyzed pedigrees, and association analysis of SNPs selected from candidate genes in the linked interval. The subset was made on the criterion of at least one autopsy-confirmed AD case per family, resulting in 24 families.
    Results: Linkage analysis of a family subset having at least one autopsy-confirmed AD case showed a significant nonparametric single-point LOD score of 4.4 in 8q24. Fine-mapping under the linkage peak with 10 microsatellite markers yielded an increase in the multipoint (mpt) LOD score from 2.1 to 3.0. SNP genotyping was performed on 21 selected candidate transcripts of the LOD(max)-2 region. Both family-based association and linkage analysis were performed on extended material from 30 families, resulting in a suggestive linkage at peak marker rs6577853 (mpt LOD score = 2.4).
    Conclusion: The 8q24 region has been implicated to be involved in AD etiology.
    MeSH term(s) Adult ; Aged ; Aged, 80 and over ; Alzheimer Disease/epidemiology ; Alzheimer Disease/genetics ; Alzheimer Disease/pathology ; Autopsy ; Brain/pathology ; Chromosome Mapping ; Chromosomes, Human, Pair 8/genetics ; DNA/genetics ; Female ; Genetic Linkage ; Genome-Wide Association Study ; Genotype ; Humans ; Lod Score ; Male ; Microsatellite Repeats ; Middle Aged ; Polymorphism, Single Nucleotide ; Reverse Transcriptase Polymerase Chain Reaction ; Sweden/epidemiology
    Chemical Substances DNA (9007-49-2)
    Language English
    Publishing date 2011
    Publishing country Switzerland
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 1026007-9
    ISSN 1421-9824 ; 1013-7424
    ISSN (online) 1421-9824
    ISSN 1013-7424
    DOI 10.1159/000323808
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  8. Article ; Online: Progressive neuropathology and cognitive decline in a single Arctic APP transgenic mouse model.

    Rönnbäck, Annica / Zhu, Shunwei / Dillner, Karin / Aoki, Mikio / Lilius, Lena / Näslund, Jan / Winblad, Bengt / Graff, Caroline

    Neurobiology of aging

    2011  Volume 32, Issue 2, Page(s) 280–292

    Abstract: The Arctic APP mutation (E693G) leads to dementia with clinical features similar to Alzheimer disease (AD), but little is known about the pathogenic mechanism of this mutation. To address this question, we have generated a transgenic mouse model, ... ...

    Abstract The Arctic APP mutation (E693G) leads to dementia with clinical features similar to Alzheimer disease (AD), but little is known about the pathogenic mechanism of this mutation. To address this question, we have generated a transgenic mouse model, TgAPParc, with neuron-specific expression of human APP with the Arctic mutation (hAPParc). Heterozygous mice from two separate founder lines with different levels of expression of hAPParc were analyzed with respect to brain morphology and behavior every 3 months until the age of 18 months. Standard histological stainings and immunohistochemistry using a panel of Aβ antibodies showed an age- and dose-dependant progression of amyloid deposition in the brain, starting in the subiculum and spreading to the thalamus. Cognitive behavioral testing revealed deficits in hippocampus-dependent spatial learning and memory in the Barnes maze test. This study demonstrates that the Arctic APP mutation is sufficient to cause amyloid deposition and cognitive dysfunction, and thus the TgAPParc mouse model provides a valuable tool to study the effect of the Arctic mutation in vivo without possible confounding effect of other APP mutations.
    MeSH term(s) Age Factors ; Alanine/genetics ; Alzheimer Disease/complications ; Alzheimer Disease/genetics ; Alzheimer Disease/pathology ; Amyloid beta-Peptides/metabolism ; Amyloid beta-Protein Precursor/genetics ; Animals ; Brain/metabolism ; Brain/pathology ; Cognition Disorders/etiology ; Cognition Disorders/genetics ; Disease Progression ; Enzyme-Linked Immunosorbent Assay/methods ; Escape Reaction/physiology ; Exploratory Behavior/physiology ; Glycine/genetics ; Humans ; Learning Disorders/etiology ; Maze Learning/physiology ; Mice ; Mice, Transgenic ; Mutation/genetics ; Peptide Fragments/metabolism ; Statistics, Nonparametric
    Chemical Substances Amyloid beta-Peptides ; Amyloid beta-Protein Precursor ; Peptide Fragments ; amyloid beta-protein (1-40) ; amyloid beta-protein (1-42) ; Alanine (OF5P57N2ZX) ; Glycine (TE7660XO1C)
    Language English
    Publishing date 2011-02
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 604505-4
    ISSN 1558-1497 ; 0197-4580
    ISSN (online) 1558-1497
    ISSN 0197-4580
    DOI 10.1016/j.neurobiolaging.2009.02.021
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  9. Article ; Online: Linkage to 20p13 including the ANGPT4 gene in families with mixed Alzheimer's disease and vascular dementia.

    Sillén, Anna / Brohede, Jesper / Lilius, Lena / Forsell, Charlotte / Andrade, Jorge / Odeberg, Jacob / Ebise, Hayao / Winblad, Bengt / Graff, Caroline

    Journal of human genetics

    2010  Volume 55, Issue 10, Page(s) 649–655

    Abstract: This study aimed at identifying novel susceptibility genes for a mixed phenotype of Alzheimer's disease and vascular dementia. Results from a genome scan showed strongest linkage to 20p13 in 18 families, and subsequent fine mapping was performed with ... ...

    Abstract This study aimed at identifying novel susceptibility genes for a mixed phenotype of Alzheimer's disease and vascular dementia. Results from a genome scan showed strongest linkage to 20p13 in 18 families, and subsequent fine mapping was performed with both microsatellites and single-nucleotide polymorphisms in 18 selected candidate transcripts in an extended sample set of 30 families. The multipoint linkage peak was located at marker rs2144151 in the ANGPT4 gene, which is a strong candidate gene for vascular disease because of its involvement in angiogenesis. Although the significance of the linkage decreased, we find this result intriguing, considering that we included additional families, and thus the reduced linkage signal may be caused by genetic heterogeneity.
    MeSH term(s) Alzheimer Disease/genetics ; Angiopoietins/genetics ; Chromosome Mapping ; Chromosomes, Human, Pair 20 ; Dementia, Vascular/genetics ; Family Health ; Female ; Humans ; Lod Score ; Male ; Microsatellite Repeats ; Phenotype ; Physical Chromosome Mapping ; Polymorphism, Single Nucleotide
    Chemical Substances Angiopoietins ; angiopoietin 4
    Language English
    Publishing date 2010-10
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 1425192-9
    ISSN 1435-232X ; 1434-5161
    ISSN (online) 1435-232X
    ISSN 1434-5161
    DOI 10.1038/jhg.2010.79
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  10. Article ; Online: Genetic association to the amyloid plaque associated protein gene COL25A1 in Alzheimer's disease.

    Forsell, Charlotte / Björk, Behnosh Fakhri / Lilius, Lena / Axelman, Karin / Fabre, Susanne Froelich / Fratiglioni, Laura / Winblad, Bengt / Graff, Caroline

    Neurobiology of aging

    2010  Volume 31, Issue 3, Page(s) 409–415

    Abstract: The COL25A1 gene, located in 4q25, encodes the CLAC protein, which has been implicated in Alzheimer's disease (AD) pathogenesis. CLAC was originally identified in amyloid preparations from AD brain and has been shown to be associated with amyloid plaques, ...

    Abstract The COL25A1 gene, located in 4q25, encodes the CLAC protein, which has been implicated in Alzheimer's disease (AD) pathogenesis. CLAC was originally identified in amyloid preparations from AD brain and has been shown to be associated with amyloid plaques, inhibition of Abeta-fibril elongation and increased protease resistance of Abeta-fibrils through direct binding to Abeta. These biochemical data as well as the genomic location of the COL25A1 gene in chromosome 4q25 where we previously have reported a weak linkage-signal in Swedish AD families encouraged us to perform a case-control association study of two LD blocks in COL25A1 using 817 AD cases and 364 controls. The LD blocks cover a putative Abeta-binding motif and the variable 3' end of the gene. The analyses indicated association to three of eight analysed SNPs. We found further support for the association by replication in a Swedish population-based longitudinal sample set (n=926). Thus, in addition to the biochemical data, there is now genetic evidence of association between COL25A1 and risk for Alzheimer's disease.
    MeSH term(s) Aged ; Aged, 80 and over ; Alzheimer Disease/genetics ; Case-Control Studies ; European Continental Ancestry Group/genetics ; Female ; Follow-Up Studies ; Gene Frequency ; Genetic Association Studies ; Genotype ; Haplotypes ; Humans ; Linkage Disequilibrium ; Longitudinal Studies ; Male ; Non-Fibrillar Collagens/genetics ; Plaque, Amyloid/genetics ; Polymorphism, Single Nucleotide ; Sequence Analysis, DNA ; Sweden
    Chemical Substances COL25A1 protein, human ; Non-Fibrillar Collagens
    Language English
    Publishing date 2010-03
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 604505-4
    ISSN 1558-1497 ; 0197-4580
    ISSN (online) 1558-1497
    ISSN 0197-4580
    DOI 10.1016/j.neurobiolaging.2008.04.009
    Database MEDical Literature Analysis and Retrieval System OnLINE

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