Evidence map›Paper›PMID 24627227›Full record

ArticleJournal of molecular neuroscience : MN2014

Novel mutations in the amyloid precursor protein gene within Moroccan patients with Alzheimer's disease.

Nadia El Kadmiri, Nabil Zaid, Ahmed Hachem, Younes Zaid, Marie-Pierre Dubé, Khalil Hamzi, Bouchra El Moutawakil, Ilham Slassi, Sellama Nadifi

Abstract read
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In one paragraph

Article in Journal of molecular neuroscience : MN, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed, 1 pooled it
0.3field-weighted citation impact, top 37% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

4 citing papers in PubMed, 1 synthesis or guideline pooled it, 8 citations in OpenAlex.

  1. Cognitive assessment tools for Arabic-speaking older adults: A systematic review.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2025
    Pooled it
  2. Review
  3. Dementia in Africa: Current evidence, knowledge gaps, and future directions.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2022
    Review
  4. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

9 authors at 3 institutions in 2 countries.

Nadia El KadmiriLaboratory of Medical Genetics and Molecular Pathology, Faculty of Medicine and Pharmacy, University Hassan II, 19 Rue Tarik Ibnou Ziad, B.P. 9154, 20000, Casablanca, Morocco, elkadmiri1979@gmail.com.
Nabil Zaid
Ahmed Hachem
Younes Zaid
Marie-Pierre Dubé
Khalil Hamzi
Bouchra El Moutawakil
Ilham Slassi
Sellama Nadifi
Montreal Heart Institute · CAUniversity of Hassan II Casablanca · MACentre Hospitalier Universitaire Ibn Rochd · MA

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

In Morocco, Alzheimer's disease (AD) affects almost 30,000 individuals, and this number could increase to 75,000 by 2020. To our knowledge, the genes predisposing individuals to AD and predicting disease incidence remain elusive. In this study, we aimed to evaluate the genetic contribution of mutations in the amyloid precursor protein (APP) gene exons 16 and 17 to familial and sporadic AD cases. Seventeen sporadic cases and eight family cases were seen at the memory clinic of the University of Casablanca Neurology Department. These patients underwent standard somatic neurological examination, cognitive function assessment, brain imaging, and laboratory tests. Direct sequencing of exons 16 and 17 of the APP gene was performed on genomic DNA of AD patients. In this original Moroccan study, we identified seven novel frameshift mutations in exons 16 and 17 of the APP gene. Interestingly, only one novel splice mutation was detected in a family case. There is a strong correlation between clinical symptoms and genetic factors in Moroccan patients with a family history of AD. Therefore, mutations in APP gene exons 16 and 17 may eventually become genetic markers for AD predisposition.

Indexed as

Frameshift MutationAgedAlzheimer DiseaseAmyloid beta-Protein PrecursorCase-Control StudiesExonsFemaleHumansMaleMiddle AgedMoroccoPedigreeAmyloid beta-Protein PrecursorAPP protein, human

Identifiers

PMID24627227
OpenAlexW2077213763

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.