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  1. Article ; Online: Is APOE ε4 required for Alzheimer's disease to develop in TREM2 p.R47H variant carriers?

    Guerreiro, R / Orme, T / Naj, A C / Kuzma, A B / Schellenberg, G D / Bras, J

    Neuropathology and applied neurobiology

    2018  Volume 45, Issue 2, Page(s) 187–189

    MeSH term(s) Alzheimer Disease ; Apolipoprotein E4 ; Humans ; Membrane Glycoproteins ; Receptors, Immunologic
    Chemical Substances Apolipoprotein E4 ; Membrane Glycoproteins ; Receptors, Immunologic ; TREM2 protein, human
    Language English
    Publishing date 2018-10-24
    Publishing country England
    Document type Letter ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't ; Comment
    ZDB-ID 80371-6
    ISSN 1365-2990 ; 0305-1846
    ISSN (online) 1365-2990
    ISSN 0305-1846
    DOI 10.1111/nan.12517
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Zs.A 1241: Show issues Location:
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  2. Article: Molecular genetics of familial Alzheimer's disease.

    Schellenberg, G D

    Arzneimittel-Forschung

    1995  Volume 45, Issue 3A, Page(s) 418–424

    Abstract: Defective genes play an important role in some, if not all cases of Alzheimer's disease (AD). Epidemiologic case control studies, family pedigree analysis, and recent twin studies clearly implicate inherited gene defects in development of the disease. In ...

    Abstract Defective genes play an important role in some, if not all cases of Alzheimer's disease (AD). Epidemiologic case control studies, family pedigree analysis, and recent twin studies clearly implicate inherited gene defects in development of the disease. In addition to defective genes, trisomy 21 also results in the neuropathology of AD and an increased risk of early dementia. The genetics of AD have been partially resolved. In some rare kindreds, AD is inherited by an autosomal dominant mechanism. In some of these rare families, mutations in the amyloid precursor protein (APP) gene on chromosome 21 are responsible for AD. APP mutations appear to account for approximately 5% of early-onset familial AD (FAD). Linkage analysis and a genomic scanning strategy have been used recently to localize an early-onset FAD locus to chromosome 14q24.3. This, as yet unidentified gene, accounts for FAD in most of the early-onset FAD kindreds which do not carry APP mutations. The chromosome 14 FAD locus is found in ethnically diverse populations including European Caucasians, Hispanics from Mexico, and in at least 1 Japanese family. However, the chromosome 14 locus is not responsible for FAD in the Volga German FAD families, a group of ethnically related kindreds with family age-of-onset means ranging from 50 to 65 years. Also, the chromosome 14 locus does not appear to be responsible for late-onset FAD. A locus on chromosome 19 appears to be a risk factor for AD in at least some late-onset FAD kindreds.(ABSTRACT TRUNCATED AT 250 WORDS)
    MeSH term(s) Alzheimer Disease/genetics ; Alzheimer Disease/metabolism ; Amino Acid Sequence ; Genetic Markers ; Humans ; Molecular Sequence Data
    Chemical Substances Genetic Markers
    Language English
    Publishing date 1995-03
    Publishing country Germany
    Document type Journal Article ; Review
    ZDB-ID 502081-5
    ISSN 1616-7066 ; 0004-4172
    ISSN (online) 1616-7066
    ISSN 0004-4172
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  3. Article: Genetic dissection of Alzheimer disease, a heterogeneous disorder.

    Schellenberg, G D

    Proceedings of the National Academy of Sciences of the United States of America

    1995  Volume 92, Issue 19, Page(s) 8552–8559

    Abstract: The genetics of Alzheimer disease (AD) are complex and not completely understood. Mutations in the amyloid precursor protein gene (APP) can cause early-onset autosomal dominant AD. In vitro studies indicate that cells expressing mutant APPs overproduce ... ...

    Abstract The genetics of Alzheimer disease (AD) are complex and not completely understood. Mutations in the amyloid precursor protein gene (APP) can cause early-onset autosomal dominant AD. In vitro studies indicate that cells expressing mutant APPs overproduce pathogenic forms of the A beta peptide, the major component of AD amyloid. However, mutations in the APP gene are responsible for 5% or less of all early-onset familial AD. A locus on chromosome 14 is responsible for AD in other early-onset AD families and represents the most severe form of the disease in terms of age of onset and rate of decline. Attempts to identify the AD3 gene by positional cloning methods are underway. At least one additional early-onset AD locus remains to be located. In late-onset AD, the apolipoprotein E gene allele epsilon 4 is a risk factor for AD. This allele appears to act as a dose-dependent age-of-onset modifier. The epsilon 2 allele of this gene may be protective. Other late-onset susceptibility factors remain to be identified.
    MeSH term(s) Alzheimer Disease/ethnology ; Alzheimer Disease/etiology ; Alzheimer Disease/genetics ; Amyloid/genetics ; Apolipoproteins E/genetics ; Causality ; Chromosomes, Human, Pair 14 ; Chromosomes, Human, Pair 21 ; Germany/ethnology ; Humans ; Prion Proteins ; Prions ; Protein Precursors/genetics ; Russia/epidemiology
    Chemical Substances Amyloid ; Apolipoproteins E ; PRNP protein, human ; Prion Proteins ; Prions ; Protein Precursors
    Language English
    Publishing date 1995-09-12
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't ; Research Support, U.S. Gov't, P.H.S. ; Review
    ZDB-ID 209104-5
    ISSN 1091-6490 ; 0027-8424
    ISSN (online) 1091-6490
    ISSN 0027-8424
    DOI 10.1073/pnas.92.19.8552
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Zs.A 1148: Show issues Location:
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  4. Article: Progress in Alzheimer's disease genetics.

    Schellenberg, G D

    Current opinion in neurology

    1995  Volume 8, Issue 4, Page(s) 262–267

    Abstract: Three genetic loci for Alzheimer's disease have been identified. These are the amyloid precursor gene on chromosome 21, a gene for early-onset autosomal dominant Alzheimer's disease on chromosome 14, and the risk-modifying gene APOE on chromosome 19. ... ...

    Abstract Three genetic loci for Alzheimer's disease have been identified. These are the amyloid precursor gene on chromosome 21, a gene for early-onset autosomal dominant Alzheimer's disease on chromosome 14, and the risk-modifying gene APOE on chromosome 19. Additional Alzheimer's disease genes remain to be found. The genes identified by studying inherited forms of Alzheimer's disease are now being used to understand the initiating steps in the pathogenesis of the disease.
    MeSH term(s) Aged ; Alzheimer Disease/genetics ; Amyloid beta-Protein Precursor/genetics ; Apolipoproteins E/genetics ; Chromosome Aberrations/genetics ; Chromosome Disorders ; Chromosome Mapping ; Chromosomes, Human, Pair 14 ; Chromosomes, Human, Pair 19 ; Chromosomes, Human, Pair 21 ; Genes, Dominant/genetics ; Genetic Markers/genetics ; Humans ; Middle Aged ; Phenotype
    Chemical Substances Amyloid beta-Protein Precursor ; Apolipoproteins E ; Genetic Markers
    Language English
    Publishing date 1995-08
    Publishing country England
    Document type Journal Article ; Review
    ZDB-ID 1182686-1
    ISSN 1473-6551 ; 1350-7540
    ISSN (online) 1473-6551
    ISSN 1350-7540
    DOI 10.1097/00019052-199508000-00003
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  5. Article: Alzheimer's disease: implications of genetic studies.

    Schellenberg, G D

    Neurobiology of aging

    1994  Volume 15 Suppl 2, Page(s) S141–4

    MeSH term(s) Alzheimer Disease/genetics ; Alzheimer Disease/metabolism ; Animals ; Genome ; Humans
    Language English
    Publishing date 1994
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't ; Research Support, U.S. Gov't, P.H.S. ; Review
    ZDB-ID 604505-4
    ISSN 1558-1497 ; 0197-4580
    ISSN (online) 1558-1497
    ISSN 0197-4580
    DOI 10.1016/0197-4580(94)90192-9
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    Zs.A 1685: Show issues Location:
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    Zs.MG 10: Show issues

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  6. Article: The case of the missing tau, or, why didn't the mRNA bark?

    Bird, T D / Schellenberg, G D

    Annals of neurology

    2001  Volume 49, Issue 2, Page(s) 144–145

    MeSH term(s) Alzheimer Disease/genetics ; Humans ; RNA, Messenger/genetics ; tau Proteins/genetics
    Chemical Substances RNA, Messenger ; tau Proteins
    Language English
    Publishing date 2001-02
    Publishing country United States
    Document type Comment ; Editorial
    ZDB-ID 80362-5
    ISSN 1531-8249 ; 0364-5134
    ISSN (online) 1531-8249
    ISSN 0364-5134
    DOI 10.1002/1531-8249(20010201)49:2<144::aid-ana33>3.0.co;2-j
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    Zs.A 1370: Show issues Location:
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    Zs.MO 478: Show issues

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  7. Article: Evidence for etiologic heterogeneity in Alzheimer's disease.

    Bird, T D / Schellenberg, G D / Wijsman, E M / Martin, G M

    Neurobiology of aging

    2009  Volume 10, Issue 5, Page(s) 432–4; discussion 446–8

    Abstract: We briefly describe the evidence for etiologic heterogeneity in Alzheimer's disease. Several different genetic and environmental factors may act separately or in combination to produce the AD phenotype. This potential heterogeneity presents special ... ...

    Abstract We briefly describe the evidence for etiologic heterogeneity in Alzheimer's disease. Several different genetic and environmental factors may act separately or in combination to produce the AD phenotype. This potential heterogeneity presents special challenges to those attempting to identify specific genetic influences in the pathogenesis of AD.
    MeSH term(s) Alzheimer Disease/chemically induced ; Alzheimer Disease/etiology ; Alzheimer Disease/genetics ; Brain Injuries/complications ; Chromosomes, Human, Pair 21 ; Environmental Pollutants/toxicity ; Humans
    Chemical Substances Environmental Pollutants
    Language English
    Publishing date 2009-03-09
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't ; Research Support, U.S. Gov't, Non-P.H.S. ; Research Support, U.S. Gov't, P.H.S.
    ZDB-ID 604505-4
    ISSN 1558-1497 ; 0197-4580
    ISSN (online) 1558-1497
    ISSN 0197-4580
    DOI 10.1016/0197-4580(89)90085-7
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  8. Article: [STM-2, a candidate gene for the familial Alzheimer's disease on chromosome 1].

    Oshima, J / Schellenberg, G D

    Tanpakushitsu kakusan koso. Protein, nucleic acid, enzyme

    1996  Volume 41, Issue 10, Page(s) 1448–1452

    MeSH term(s) Alzheimer Disease/genetics ; Amino Acid Sequence ; Animals ; Chromosomes, Human, Pair 1 ; Cloning, Molecular ; Humans ; Membrane Proteins/genetics ; Membrane Proteins/physiology ; Molecular Sequence Data ; Point Mutation ; Presenilin-2
    Chemical Substances Membrane Proteins ; PSEN2 protein, human ; Presenilin-2
    Language Japanese
    Publishing date 1996-08
    Publishing country Japan
    Document type Journal Article ; Research Support, U.S. Gov't, P.H.S. ; Review
    ZDB-ID 391163-9
    ISSN 0039-9450
    ISSN 0039-9450
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  9. Article: ABCB1 genotype and CSF beta-amyloid in Alzheimer disease.

    Kohen, R / Shofer, J B / Korvatska, O / Petrie, E C / Wang, L Y / Schellenberg, G D / Peskind, E R / Wilkinson, C W

    Journal of geriatric psychiatry and neurology

    2011  Volume 24, Issue 2, Page(s) 63–66

    Abstract: The ABCB1 gene, coding for the efflux transporter P-glycoprotein (PGP), is a candidate gene for Alzheimer disease (AD). P-glycoprotein is heavily expressed at the blood-brain barrier, where it mediates the efflux of β-amyloid (Aβ) from the brain. In this ...

    Abstract The ABCB1 gene, coding for the efflux transporter P-glycoprotein (PGP), is a candidate gene for Alzheimer disease (AD). P-glycoprotein is heavily expressed at the blood-brain barrier, where it mediates the efflux of β-amyloid (Aβ) from the brain. In this study, we investigated a possible association between 2 common ABCB1 polymorphisms, G2677T/A (Ala893Ser/Thr) and C3435T, AD, and cerebrospinal fluid (CSF) levels of Aβ. No strong evidence for association was found.
    MeSH term(s) ATP Binding Cassette Transporter, Subfamily B ; ATP Binding Cassette Transporter, Subfamily B, Member 1/genetics ; Aged ; Alleles ; Alzheimer Disease/cerebrospinal fluid ; Alzheimer Disease/genetics ; Amyloid beta-Peptides/cerebrospinal fluid ; Female ; Gene Frequency ; Genetic Association Studies ; Humans ; Linear Models ; Male ; Middle Aged ; Odds Ratio ; Polymorphism, Single Nucleotide
    Chemical Substances ABCB1 protein, human ; ATP Binding Cassette Transporter, Subfamily B ; ATP Binding Cassette Transporter, Subfamily B, Member 1 ; Amyloid beta-Peptides
    Language English
    Publishing date 2011-04-08
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't ; Research Support, U.S. Gov't, Non-P.H.S.
    ZDB-ID 1035760-9
    ISSN 0891-9887
    ISSN 0891-9887
    DOI 10.1177/0891988711402325
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    Zs.A 2631: Show issues Location:
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  10. Article ; Online: Mutations in the TSGA14 gene in families with autism spectrum disorders.

    Korvatska, O / Estes, A / Munson, J / Dawson, G / Bekris, L M / Kohen, R / Yu, C-E / Schellenberg, G D / Raskind, W H

    American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics

    2011  Volume 156B, Issue 3, Page(s) 303–311

    Abstract: Linkage to 7q has been the most robust genetic finding in familial autism. A previous scan of multiplex families with autism spectrum disorders found a linkage signal of genome-wide significance at D7S530 on 7q32. We searched a candidate imprinted region ...

    Abstract Linkage to 7q has been the most robust genetic finding in familial autism. A previous scan of multiplex families with autism spectrum disorders found a linkage signal of genome-wide significance at D7S530 on 7q32. We searched a candidate imprinted region at this location for genetic variants in families with positive linkage scores. Using exon resequencing, we identified three rare potentially pathogenic variants in the TSGA14 gene, which encodes a centrosomal protein. Two variants were missense mutations (c.664C>G; p.P206A and c.766T>G; p.C240G) that changed conserved residues in the same protein domain; the third variant (c.192+5G>A) altered splicing, which resulted in a protein with an internal deletion of 16 residues and a G33D substitution. These rare TSGA14 variants are enriched in the affected subjects (6/348 patients versus 2/670 controls, Fisher's exact two tailed P = 0.022). This is the first report of a possible link of a gene with a centrosomal function with familial autism.
    MeSH term(s) Alleles ; Amino Acid Sequence ; Case-Control Studies ; Child ; Child Development Disorders, Pervasive/ethnology ; Child Development Disorders, Pervasive/genetics ; Chromosomes, Human, Pair 7/genetics ; European Continental Ancestry Group/genetics ; Family ; Female ; Genetic Association Studies ; Genetic Predisposition to Disease ; Humans ; Linkage Disequilibrium/genetics ; Male ; Molecular Sequence Data ; Mutation/genetics ; Pedigree ; Proteins/chemistry ; Proteins/genetics ; RNA Splicing/genetics
    Chemical Substances CEP41 protein, human ; Proteins
    Language English
    Publishing date 2011-01-13
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Extramural
    ZDB-ID 2108616-3
    ISSN 1552-485X ; 1552-4841 ; 0148-7299
    ISSN (online) 1552-485X
    ISSN 1552-4841 ; 0148-7299
    DOI 10.1002/ajmg.b.31162
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