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  1. Book ; Online: Current protocols in human genetics

    Haines, Jonathan L.

    2001  

    Author's details editorial board, Jonathan L. Haines [and others]
    MeSH term(s) Genetic Techniques
    Keywords Human genetics
    Subject code 573.2/1
    Language English
    Dates of publication Ceased with Volume 108, issue 1 (December 2020).
    Size 1 online resource
    Publisher John Wiley
    Publishing place New York
    Document type Book ; Online
    Note Title from caption on opening page (Wiley IntersScience website, viewed Nov. 20, 2006). ; Restricted to Current protocol subscribers.
    ISSN 1934-8258 ; 1934-8266
    ISSN (online) 1934-8258
    Database ZB MED Catalogue: Medicine, Health, Nutrition, Environment, Agriculture

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  2. Article ; Online: Alzheimer Disease: Perspectives from Epidemiology and Genetics.

    Haines, Jonathan L

    The Journal of law, medicine & ethics : a journal of the American Society of Law, Medicine & Ethics

    2018  Volume 46, Issue 3, Page(s) 694–698

    Abstract: Alzheimer disease (AD) is a huge and growing societal problem with upwards of 35% of the population over the age of 80 developing the disease. AD results in a loss of memory, the ability to make reasoned and sound decisions, and ultimately the inability ... ...

    Abstract Alzheimer disease (AD) is a huge and growing societal problem with upwards of 35% of the population over the age of 80 developing the disease. AD results in a loss of memory, the ability to make reasoned and sound decisions, and ultimately the inability to take care of oneself. AD has an impact not only on the sufferer, but their caretakers and loved ones, who must take on a costly and time-consuming burden of care. AD is found in virtually all racial and ethnic groups. Genetic influences on AD are substantial, and there has been a 30 year history of both success and failure. Mutations for rare early onset forms of the disease have been identified, but this information has not yet led to an effective treatment. Multiple common genetic variations have also been identified, and have led to new insights into the potential role of microglia cells in addition to neuronal cells in the brain. Despite intensive efforts, a significant portion of the genetic etiology of AD remains unknown and must be identified.
    MeSH term(s) Alzheimer Disease/epidemiology ; Alzheimer Disease/genetics ; Apolipoproteins E/genetics ; Clinical Trials as Topic ; Genetic Predisposition to Disease ; Humans
    Chemical Substances Apolipoproteins E
    Language English
    Publishing date 2018-10-17
    Publishing country United States
    Document type Journal Article
    ZDB-ID 1168812-9
    ISSN 1748-720X ; 1073-1105 ; 0277-8459
    ISSN (online) 1748-720X
    ISSN 1073-1105 ; 0277-8459
    DOI 10.1177/1073110518804230
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Book: Approaches to gene mapping in complex human diseases

    Haines, Jonathan L.

    1998  

    Author's details ed. by Jonathan L. Haines
    Keywords Hereditary Diseases / genetics ; Chromosome Mapping ; Genetic Markers ; Erbkrankheit ; Genkarte ; Genkartierung ; Genanalyse
    Subject Gen ; Genetischer Test ; Gentest ; Genomanalyse ; Genom ; Genetische Analyse ; Gendiagnostik ; Genomsequenzierung ; Genetische Krankheit ; Heredopathie ; Genetisch bedingte Krankheit ; Genetisches Syndrom ; Erbkrankheiten ; Genetische Kartierung ; Genetic map ; Gene map ; Linkage map
    Language English
    Size XXII, 434 S. : Ill., graph. Darst.
    Publisher Wiley-Liss
    Publishing place New York u.a.
    Publishing country United States
    Document type Book
    Note Includes bibliographies and index
    New title 2. Aufl. u.d.T. Genetic analysis of complex diseases
    HBZ-ID HT009507361
    ISBN 0-471-17195-6 ; 978-0-471-17195-9
    Database Catalogue ZB MED Medicine, Health

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    Shelf markLoan statusLocation
    1998 A 8783 order for loan Magazin

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  4. Article ; Online: Genetic Mapping.

    Haines, Jonathan L

    Current protocols in human genetics

    2016  Volume 89, Page(s) 1.0.1–1.0.7

    MeSH term(s) Chromosome Mapping/methods ; Genetic Linkage ; Genetic Variation ; Genotype ; Humans ; Polymorphism, Genetic ; Quantitative Trait, Heritable
    Language English
    Publishing date 2016-04-01
    Publishing country United States
    Document type Journal Article
    ISSN 1934-8258
    ISSN (online) 1934-8258
    DOI 10.1002/0471142905.hg0100s89
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Book: Genetic analysis of complex diseases

    Haines, Jonathan L. / Pericak-Vance, Margaret Ann

    2006  

    Author's details Jonathan L. Haines ; Margaret Pericak-Vance
    Keywords Genetic Diseases, Inborn / genetics ; Chromosome Mapping ; Genetic Markers ; Genotype
    Language English
    Size XX, 485 S. : Ill., graph. Darst.
    Edition 2. ed.
    Publisher Wiley-Liss
    Publishing place Hoboken, NJ
    Publishing country United States
    Document type Book
    Old title 1. Aufl. u.d.T. Approaches to gene mapping in complex human diseases
    HBZ-ID HT013766822
    ISBN 0-471-08952-4 ; 978-0-471-08952-0
    Database Catalogue ZB MED Medicine, Health

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  6. Article ; Online: Genome-wide association studies identify novel loci in rapidly progressive Alzheimer's disease.

    Wang, Ping / Lynn, Audrey / Miskimen, Kristy / Song, Yeunjoo E / Wisniewski, Thomas / Cohen, Mark / Appleby, Brian S / Safar, Jiri G / Haines, Jonathan L

    Alzheimer's & dementia : the journal of the Alzheimer's Association

    2024  Volume 20, Issue 3, Page(s) 2034–2046

    Abstract: Introduction: Recent data suggest that distinct prion-like amyloid beta and tau strains are associated with rapidly progressive Alzheimer's disease (rpAD). The role of genetic factors in rpAD is largely unknown.: Methods: Previously known AD risk ... ...

    Abstract Introduction: Recent data suggest that distinct prion-like amyloid beta and tau strains are associated with rapidly progressive Alzheimer's disease (rpAD). The role of genetic factors in rpAD is largely unknown.
    Methods: Previously known AD risk loci were examined in rpAD cases. Genome-wide association studies (GWAS) were performed to identify variants that influence rpAD.
    Results: We identified 115 pathology-confirmed rpAD cases and 193 clinical rpAD cases, 80% and 69% were of non-Hispanic European ancestry. Compared to the clinical cohort, pathology-confirmed rpAD had higher frequencies of apolipoprotein E (APOE) ε4 and rare missense variants in AD risk genes. A novel genome-wide significant locus (P < 5×10
    MeSH term(s) Humans ; Alzheimer Disease/genetics ; Amyloid beta-Peptides/genetics ; Genome-Wide Association Study
    Chemical Substances Amyloid beta-Peptides
    Language English
    Publishing date 2024-01-07
    Publishing country United States
    Document type Journal Article
    ZDB-ID 2211627-8
    ISSN 1552-5279 ; 1552-5260
    ISSN (online) 1552-5279
    ISSN 1552-5260
    DOI 10.1002/alz.13655
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  7. Article ; Online: The importance of rare DNA variation in neurologic disease: cautionary tale.

    Haines, Jonathan L

    Neurology

    2013  Volume 80, Issue 11, Page(s) 974–975

    Abstract: Neurology has been one of the leaders in applying the developing tools of genetics to understand the etiology of disease. This extends as far back as the early 1980s, when the then-new methods of detecting DNA variation (restriction fragment length ... ...

    Abstract Neurology has been one of the leaders in applying the developing tools of genetics to understand the etiology of disease. This extends as far back as the early 1980s, when the then-new methods of detecting DNA variation (restriction fragment length polymorphisms) were combined with relatively new analytical methods (linkage analysis) to identify the location of the Huntington disease gene,(1) Alzheimer disease genes,(2) and a Parkinson disease (PD) gene.(3) Extremely rare highly penetrant mutations in these genes are causative for disease. These discoveries redirected entire fields of study and greatly improved our understanding of the underlying pathophysiology. However, they directly explain just a tiny portion of the genetic causes of their disease.
    MeSH term(s) Eukaryotic Initiation Factor-4G/genetics ; Exome/genetics ; Female ; Genetic Variation/genetics ; Humans ; Male ; Parkinson Disease/genetics ; Vesicular Transport Proteins/genetics
    Chemical Substances EIF4G1 protein, human ; Eukaryotic Initiation Factor-4G ; VPS35 protein, human ; Vesicular Transport Proteins
    Language English
    Publishing date 2013-03-12
    Publishing country United States
    Document type Comment ; Editorial
    ZDB-ID 207147-2
    ISSN 1526-632X ; 0028-3878
    ISSN (online) 1526-632X
    ISSN 0028-3878
    DOI 10.1212/WNL.0b013e318287289c
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  8. Article: Identifying X-Chromosome Variants Associated with Age-Related Macular Degeneration.

    Grunin, Michelle / Igo, Robert P / Song, Yeunjoo E / Blanton, Susan H / Pericak-Vance, Margaret A / Haines, Jonathan L

    medRxiv : the preprint server for health sciences

    2023  

    Abstract: Purpose: In genome-wide association studies (GWAS), X chromosome (ChrX) variants are often not investigated. Sex-specific effects and ChrX-specific quality control (QC) are needed to examine these effects. Previous analyses identified 52 autosomal ... ...

    Abstract Purpose: In genome-wide association studies (GWAS), X chromosome (ChrX) variants are often not investigated. Sex-specific effects and ChrX-specific quality control (QC) are needed to examine these effects. Previous analyses identified 52 autosomal variants associated with age-related macular degeneration (AMD) via the International AMD Genomics Consortium (IAMDGC), but did not analyze ChrX. Therefore, our goal was to investigate ChrX variants for association with AMD.
    Methods: We genotyped 29,629 non-Hispanic White (NHW) individuals (M/F:10,404/18,865; AMD12,087/14723) via a custom chip and imputed after ChrX-specific QC (XWAS 3.0) using the Michigan Imputation Server. Imputation generated 1,221,623 variants on ChrX. Age, informative PCs, and subphenotyeps were covariates for logistic association analyses with Fishers correction. Gene/pathway analyses were performed with VEGAS, GSEASNP, ICSNPathway, DAVID, and mirPath.
    Results: Logistic association on NHW individuals with sex correction, identified variants in/near the genes
    Conclusions: Analysis of ChrX variants demonstrates association with AMD and these variants may be linked to novel pathways. Further analysis is needed to confirm results and to understand their biological significance and relationship with AMD development in worldwide populations.
    Language English
    Publishing date 2023-08-31
    Publishing country United States
    Document type Preprint
    DOI 10.1101/2023.08.28.23294688
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  9. Article ; Online: The molecular genetics of eye diseases.

    Haines, Jonathan L / Sheffield, Val C

    Human molecular genetics

    2017  Volume 26, Issue R1, Page(s) R1

    MeSH term(s) Eye Diseases/genetics ; Eye Diseases, Hereditary/genetics ; Humans
    Language English
    Publishing date 2017-08-27
    Publishing country England
    Document type Introductory Journal Article
    ZDB-ID 1108742-0
    ISSN 1460-2083 ; 0964-6906
    ISSN (online) 1460-2083
    ISSN 0964-6906
    DOI 10.1093/hmg/ddx222
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  10. Article ; Online: Attitudes and Perceptions about Brain Donation Among African Americans: Implications for Recruitment into Alzheimer's Disease Research.

    Caban-Holt, Allison / Cuccaro, Michael L / Lloyd, Shawnta L / Starks, Takiyah D / Adams, Larry D / Ford, Tayla / Haines, Jonathan L / Beecham, Gary / Reitz, Christiane / Vance, Jeffery M / Pericak-Vance, Margaret A / Byrd, Goldie S

    Journal of Alzheimer's disease : JAD

    2024  Volume 97, Issue 4, Page(s) 1621–1627

    Abstract: The objective of this study was to investigate attitudes toward brain donation and perceptions of medical research that influence brain donation among African Americans. Cross-sectional surveys were administered to African American community members (n =  ...

    Abstract The objective of this study was to investigate attitudes toward brain donation and perceptions of medical research that influence brain donation among African Americans. Cross-sectional surveys were administered to African American community members (n = 227). Findings indicate that only 27% of respondents were willing to donate their brain. As medical mistrust was not found to be a significant barrier to research participation, there may be opportunity to increase brain donation by providing information about Alzheimer's disease and brain donation to potential donors and their families so that informed decisions about participating in research can be made.
    MeSH term(s) Humans ; Alzheimer Disease ; Attitude ; Black or African American/psychology ; Brain ; Cross-Sectional Studies ; Health Knowledge, Attitudes, Practice ; Surveys and Questionnaires ; Tissue and Organ Procurement ; Patient Selection ; Biomedical Research
    Language English
    Publishing date 2024-02-02
    Publishing country Netherlands
    Document type Journal Article
    ZDB-ID 1440127-7
    ISSN 1875-8908 ; 1387-2877
    ISSN (online) 1875-8908
    ISSN 1387-2877
    DOI 10.3233/JAD-230461
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