Evidence map›Paper›PMID 29706885›Full record

ArticleFrontiers in aging neuroscience2018

Brain Transcriptomic Analysis of Hereditary Cerebral Hemorrhage With Amyloidosis-Dutch Type.

Laure Grand Moursel, Willeke M C van Roon-Mom, Szymon M Kiełbasa, Hailiang Mei, Henk P J Buermans, Linda M van der Graaf, Kristina M Hettne, Emile J de Meijer, Sjoerd G van Duinen, Jeroen F J Laros and 4 more

Open access · goldAbstract read
In one paragraph

Article in Frontiers in aging neuroscience, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.

0numbers the graph read from it
0cells of the map it votes in
14citing papers in PubMed
0.9field-weighted citation impact, top 26% 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

14 citing papers in PubMed, 21 citations in OpenAlex.

  1. Review
  2. Article
  3. Article
  4. Endothelial Cells Are Heterogeneous in Different Brain Regions and Are Dramatically Altered in Alzheimer's Disease.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2023
    Article
  5. Article
  6. Article
  7. Article
  8. Hemostasis components in cerebral amyloid angiopathy and Alzheimer's disease.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2021
    Review
  9. Article
  10. Article
  11. Review
  12. Article
  13. Article
  14. Article
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

14 authors at 1 institution in 1 country.

Laure Grand MourselDepartment of Human Genetics, Leiden University Medical Center, Leiden, Netherlands.
Willeke M C van Roon-MomDepartment of Human Genetics, Leiden University Medical Center, Leiden, Netherlands.
Szymon M KiełbasaDepartment of Medical Statistics and Bioinformatics, Leiden University Medical Center, Leiden, Netherlands.
Hailiang MeiDepartment of Medical Statistics and Bioinformatics, Leiden University Medical Center, Leiden, Netherlands.
Henk P J BuermansDepartment of Human Genetics, Leiden University Medical Center, Leiden, Netherlands.
Linda M van der GraafDepartment of Human Genetics, Leiden University Medical Center, Leiden, Netherlands.
Kristina M HettneDepartment of Human Genetics, Leiden University Medical Center, Leiden, Netherlands.
Emile J de MeijerDepartment of Human Genetics, Leiden University Medical Center, Leiden, Netherlands.
Sjoerd G van DuinenDepartment of Pathology, Leiden University Medical Center, Leiden, Netherlands.
Jeroen F J LarosDepartment of Human Genetics, Leiden University Medical Center, Leiden, Netherlands.
Mark A van BuchemDepartment of Radiology, Leiden University Medical Center, Leiden, Netherlands.
Peter A C 't HoenDepartment of Human Genetics, Leiden University Medical Center, Leiden, Netherlands.
Silvère M van der MaarelDepartment of Human Genetics, Leiden University Medical Center, Leiden, Netherlands.
Louise van der WeerdDepartment of Human Genetics, Leiden University Medical Center, Leiden, Netherlands.
Leiden University Medical Center · NL

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Hereditary cerebral hemorrhage with amyloidosis-Dutch type (HCHWA-D) is an early onset hereditary form of cerebral amyloid angiopathy (CAA) caused by a point mutation resulting in an amino acid change (NP_000475.1:p.Glu693Gln) in the amyloid precursor protein (APP). Post-mortem frontal and occipital cortical brain tissue from nine patients and nine age-related controls was used for RNA sequencing to identify biological pathways affected in HCHWA-D. Although previous studies indicated that pathology is more severe in the occipital lobe in HCHWA-D compared to the frontal lobe, the current study showed similar changes in gene expression in frontal and occipital cortex and the two brain regions were pooled for further analysis. Significantly altered pathways were analyzed using gene set enrichment analysis (GSEA) on 2036 significantly differentially expressed genes. Main pathways over-represented by down-regulated genes were related to cellular aerobic respiration (including ATP synthesis and carbon metabolism) indicating a mitochondrial dysfunction. Principal up-regulated pathways were extracellular matrix (ECM)-receptor interaction and ECM proteoglycans in relation with an increase in the transforming growth factor beta (TGFβ) signaling pathway. Comparison with the publicly available dataset from pre-symptomatic APP-E693Q transgenic mice identified overlap for the ECM-receptor interaction pathway, indicating that ECM modification is an early disease specific pathomechanism.

Indexed as

E22Q amyloid βE693Q mutationextracellular matrix remodelingfamilial cerebral amyloid angiopathyhereditary cerebral hemorrhage with amyloidosis-Dutch typemitochondrial dysfunctionRNA sequencing and transcriptome analysis

Identifiers

PMID29706885
PMCPMC5908973
OpenAlexW2797286224

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.