Evidence map›Paper›PMID 15540160›Full record

ArticleAmerican journal of human genetics2005

Mapping a Mendelian form of intracranial aneurysm to 1p34.3-p36.13.

Brian V Nahed, Askin Seker, Bulent Guclu, Ali K Ozturk, Karin Finberg, Abigail A Hawkins, Michael L DiLuna, Matthew State, Richard P Lifton, Murat Gunel

Open access · bronzeAbstract read
In one paragraph

Article in American journal of human genetics, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
25citing papers in PubMed, 1 pooled it
5.3field-weighted citation impact, top 4% 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

25 citing papers in PubMed, 1 synthesis or guideline pooled it, 84 citations in OpenAlex.

  1. Pooled it
  2. Biology, Physics, and Genetics of Intracranial Aneurysm Formation: A Review.Journal of neurological surgery. Part A, Central European neurosurgery · 2026
    Review
  3. Review
  4. Article
  5. Review
  6. Article
  7. Article
  8. Cerebrovascular disorders associated with genetic lesions.Cellular and molecular life sciences : CMLS · 2019
    Review
  9. Review
  10. Review
  11. Article
  12. Review
  13. Zebrafish models of cerebrovascular disease.Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism · 2014
    Review
  14. Article
  15. Article
  16. Article
  17. Article
  18. Article
  19. Article
  20. 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

10 authors at 1 institution in 1 country.

Brian V NahedDepartment of Neurosurgery, Yale University School of Medicine, 333 Cedar Street, New Haven, CT 06510, USA.
Askin Seker
Bulent Guclu
Ali K Ozturk
Karin Finberg
Abigail A Hawkins
Michael L DiLuna
Matthew State
Richard P Lifton
Murat Gunel
Howard Hughes Medical Institute · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The identification of pathways that underlie common disease has been greatly impacted by the study of rare families that segregate single genes with large effect. Intracranial aneurysm is a common neurological problem; the rupture of these aneurysms constitutes a frequently catastrophic neurologic event. The pathogenesis of these aneurysms is largely unknown, although genetic and environmental factors are believed to play a role. Previous genomewide studies in affected relative pairs have suggested linkage to several loci, but underlying genes have not been identified. We have identified a large kindred that segregates nonsyndromic intracranial aneurysm as a dominant trait with high penetrance. Genomewide analysis of linkage was performed using a two-stage approach: an analysis of ~10,000 single-nucleotide polymorphisms in the 6 living affected subjects, followed by the genotyping of simple tandem repeats across resulting candidate intervals in all 23 kindred members. Analysis revealed significant linkage to a single locus, with a LOD score of 4.2 at 1p34.3-p36.13 under a dominant model with high penetrance. These findings identify a Mendelian form of intracranial aneurysm and map the location of the underlying disease locus.

Indexed as

Chromosomes, Human, Pair 1Genetic Predisposition to DiseaseAdultAge FactorsChromosome MappingFemaleGenetic LinkageHumansIntracranial AneurysmLod ScoreMaleMiddle AgedPedigreePenetrancePolymorphism, Single Nucleotide

Identifiers

PMID15540160
PMCPMC1196421
OpenAlexW2019431717

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.