Literature DB >> 2950593

Beta amyloid gene duplication in Alzheimer's disease and karyotypically normal Down syndrome.

J M Delabar, D Goldgaber, Y Lamour, A Nicole, J L Huret, J de Grouchy, P Brown, D C Gajdusek, P M Sinet.   

Abstract

With the recently cloned complementary DNA probe, lambda Am4 for the chromosome 21 gene encoding brain amyloid polypeptide (beta amyloid protein) of Alzheimer's disease, leukocyte DNA from three patients with sporadic Alzheimer's disease and two patients with karyotypically normal Down syndrome was found to contain three copies of this gene. Because a small region of chromosome 21 containing the ets-2 gene is duplicated in patients with Alzheimer's disease, as well as in karyotypically normal Down syndrome, duplication of a subsection of the critical segment of chromosome 21 that is duplicated in Down syndrome may be the genetic defect in Alzheimer's disease.

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Year:  1987        PMID: 2950593     DOI: 10.1126/science.2950593

Source DB:  PubMed          Journal:  Science        ISSN: 0036-8075            Impact factor:   47.728


  31 in total

1.  Immunohistochemical evidence of oxidative [corrected] stress in Alzheimer's disease.

Authors:  M A Pappolla; R A Omar; K S Kim; N K Robakis
Journal:  Am J Pathol       Date:  1992-03       Impact factor: 4.307

2.  Critical role of the D21S55 region on chromosome 21 in the pathogenesis of Down syndrome.

Authors:  Z Rahmani; J L Blouin; N Creau-Goldberg; P C Watkins; J F Mattei; M Poissonnier; M Prieur; Z Chettouh; A Nicole; A Aurias
Journal:  Proc Natl Acad Sci U S A       Date:  1989-08       Impact factor: 11.205

3.  Human ETS2 gene on chromosome 21 is not rearranged in Alzheimer disease.

Authors:  N Sacchi; J Nalbantoglu; F R Sergovich; T S Papas
Journal:  Proc Natl Acad Sci U S A       Date:  1988-10       Impact factor: 11.205

4.  2018 Victor A. McKusick Leadership Award: Molecular Mechanisms for Genomic and Chromosomal Rearrangements.

Authors:  James R Lupski
Journal:  Am J Hum Genet       Date:  2019-03-07       Impact factor: 11.025

Review 5.  Harnessing Immunoproteostasis to Treat Neurodegenerative Disorders.

Authors:  Todd E Golde
Journal:  Neuron       Date:  2019-03-20       Impact factor: 17.173

Review 6.  Molecular genetics of common diseases.

Authors:  J Scott
Journal:  Br Med J (Clin Res Ed)       Date:  1987-09-26

7.  Widespread expression of amyloid beta-protein precursor gene in rat brain.

Authors:  S Mita; E A Schon; J Herbert
Journal:  Am J Pathol       Date:  1989-06       Impact factor: 4.307

8.  Transgenic mice with increased Cu/Zn-superoxide dismutase activity: animal model of dosage effects in Down syndrome.

Authors:  C J Epstein; K B Avraham; M Lovett; S Smith; O Elroy-Stein; G Rotman; C Bry; Y Groner
Journal:  Proc Natl Acad Sci U S A       Date:  1987-11       Impact factor: 11.205

9.  Copy number variations on chromosome 12q14 in patients with normal tension glaucoma.

Authors:  John H Fingert; Alan L Robin; Jennifer L Stone; Ben R Roos; Lea K Davis; Todd E Scheetz; Steve R Bennett; Thomas H Wassink; Young H Kwon; Wallace L M Alward; Robert F Mullins; Val C Sheffield; Edwin M Stone
Journal:  Hum Mol Genet       Date:  2011-03-29       Impact factor: 6.150

10.  Clinical genomics and contextualizing genome variation in the diagnostic laboratory.

Authors:  James R Lupski; Pengfei Liu; Pawel Stankiewicz; Claudia M B Carvalho; Jennifer E Posey
Journal:  Expert Rev Mol Diagn       Date:  2020-10-10       Impact factor: 5.225

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