Výsledky vyhledávání - "H, Backhovens"

A novel CpG-associated brain-expressed candidate gene for chromosome 18q-linked bipolar disorder

Autor: C. Van Broeckhoven, P. De Rijk, Daniel Souery, S Van Gestel, Dirk Goossens, H Backhovens, Julien Mendlewicz, Jurgen Del-Favero, Stephan Claes, D Van den Bossche, Isabelle Massat

Publikováno v: Europe PubMed Central
BASE-Bielefeld Academic Search Engine

We previously identified 18q21-q22 as a candidate region for bipolar (BP) disorder and constructed a yeast artificial chromosome (YAC) contig map. Here we identified three potential CpG islands using CCG/CGG YAC fragmentation. Analysis of available g

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7ab8393b39623f9542224bd79dff59e7
https://doi.org/10.1038/sj.mp.4001190

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Tau negative frontal lobe dementia at 17q21: significant finemapping of the candidate region to a 4.8 cM interval

Autor: J. C. van Swieten, Marc Cruts, Sonia M. Rosso, M Van den Broeck, K. Sleegers, Bart Dermaut, H Backhovens, C. Van Broeckhoven, C M van Duijn, Rosa Rademakers

Publikováno v: Molecular Psychiatry, 7, 1064-1074. Nature Publishing Group
Molecular psychiatry

We report the results of a genome-wide search in a four-generation pedigree with autosomal dominant early-onset dementia (mean onset age: 64.9 years, range 53-79 years). In this family we previously excluded the known Alzheimer's disease genes based

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bcdc7bf5004ce0107d3b57ee6a30ac4c
https://doi.org/10.1038/sj.mp.4001198

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Systematic genetic study of Alzheimer disease in Latin America: Mutation frequencies of the amyloid ? precursor protein and presenilin genes in Colombia

Autor: Elsa Villareal, Marc Cruts, H Backhovens, Orlando Jorge Martins Torres, Martine Jacquier, Patricia Montañés, Christine Van Broeckhoven, Carlos Cano, Diana Matallana, Diana Arango, Martha Lucía Serrano

Publikováno v: American Journal of Medical Genetics. 103:138-143

Nearly all mutations in the presenilin 1 (PSEN1), presenilin 2 (PSEN2), and amyloid β precursor protein (APP) genes lead to early-onset Alzheimer disease (EOAD, onset age at or before 65 years). In order to assess the genetic contribution of these g

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::764827ad0c17f3622fa09bd168f2626d
https://doi.org/10.1002/1096-8628(20011001)103:2<138::aid-ajmg1529>3.0.co

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Nonfibrillar diffuse amyloid deposition due to a gamma42-secretase site mutation points to an essential role for N-truncated Abeta42 in Alzheimer's disease

Autor: Peter M. Kroisel, Christine Van Broeckhoven, Ann Löfgren, Reinhold Kleinert, Rong Wang, Eugeen Vanmechelen, Bart De Strooper, Samir Kumar-Singh, Marc Cruts, Hugo Vanderstichele, H Backhovens, Marc Mercken, Inge Vanderhoeven, Chris De Jonghe

Publikováno v: Human molecular genetics

Amyloidogenic processing of the amyloid precursor protein (APP) with deposition in brain of the 42 amino acid long amyloid beta-peptide (A beta(42)) is considered central to Alzheimer's disease (AD) pathology. However, it is generally believed that n

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f3774f773331dc0ed217201c9c0217e5
https://doi.org/10.1093/hmg/9.18.2589

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Familial Creutzfeldt-Jakob disease in a patient carrying both a presenilin 1 missense substitution and a prion protein gene insertion

Autor: B Van Everbroeck, J.J. Martin, C. Van Broeckhoven, Patrick Cras, Marc Cruts, U. Lübke, Raphael Sciot, H Backhovens, René Dom, Bart Dermaut

Publikováno v: Journal of neurology

We describe a patient who was clinically diagnosed with familial early-onset Alzheimer disease (AD) carrying both the E318G substitution in presenilin 1 (PSEN1) and an insertion of 7 octapeptide coding repeats in the prion protein gene (PRNP). Neurop

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dbd25b97c5b73f0dd399530f28558cf3
https://doi.org/10.1007/s004150050603

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ApoE genotype is a risk factor in nonpresenilin early-onset alzheimer's disease families

Autor: Henry Houlden, Richard Crook, John Hardy, Matt Baker, Martin N. Rossor, C. Van Broeckhoven, Mike Hutton, G. Prihar, J. J. Martin, H Backhovens

Publikováno v: American Journal of Medical Genetics. 81:117-121

The apolipoprotein E (ApoE) genotype is a significant risk factor and modulator of age of onset of Alzheimer's disease (AD). We analyzed the effect of the ApoE genotype in two distinct early-onset familial AD groups: families with a mutation in the p

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::bbdf86e15c008b8c5e565ec344480476
https://doi.org/10.1002/(sici)1096-8628(19980207)81:1<117::aid-ajmg19>3.0.co

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WT1 MUTATION IN MALIGNANT MESOTHELIOMA AND WT1 IMMUNOREACTIVITY IN RELATION TOp53 AND GROWTH FACTOR RECEPTOR EXPRESSION, CELL-TYPE TRANSITION, AND PROGNOSIS

Autor: Christine Van Broeckhoven, Samir Kumar-Singh, K. Segers, Eric Van Marck, Johannes Bogers, Joost Weyler, H Backhovens, Ulrich Rodeck

Publikováno v: The Journal of Pathology. 181:67-74

The Wilms tumour 1 (WT1) gene is believed to contribute to the growth and differentiation of certain tissues, including mesothelium. This study assessed WT1 gene status by mutational screening in 42 malignant mesotheliomas (MMs) and 3 MM cell lines a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::20880f010eaea01e216bdfea48e60fe6
https://doi.org/10.1002/(sici)1096-9896(199701)181:1<67::aid-path723>3.0.co

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