Evidence map›Paper›PMID 36873109›Full record

ArticleFrontiers in molecular neuroscience2023

Co-occurring pathogenic variants in 6q27 associated with dementia spectrum disorders in a Peruvian family.

Karla Lucia F Alvarez, Jorge Alberto Aguilar-Pineda, Michelle M Ortiz-Manrique, Marluve F Paredes-Calderon, Bryan C Cardenas-Quispe, Karin Jannet Vera-Lopez, Luis D Goyzueta-Mamani, Miguel Angel Chavez-Fumagalli, Gonzalo Davila-Del-Carpio, Antero Peralta-Mestas and 2 more

Open access · goldAbstract read
In one paragraph

Article in Frontiers in molecular neuroscience, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
0.4field-weighted citation impact, top 42% 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

0 citing papers in PubMed, 2 citations in OpenAlex.

No citing paper in PubMed yet.

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

12 authors at 2 institutions in 2 countries.

Karla Lucia F AlvarezLaboratory of Genomics and Neurovascular Diseases, Universidad Católica de Santa María, Arequipa, Peru.
Jorge Alberto Aguilar-PinedaLaboratory of Genomics and Neurovascular Diseases, Universidad Católica de Santa María, Arequipa, Peru.
Michelle M Ortiz-ManriqueLaboratory of Genomics and Neurovascular Diseases, Universidad Católica de Santa María, Arequipa, Peru.
Marluve F Paredes-CalderonDivision of Neurology, Psychiatry and Radiology of the National Hospital ESSALUD-HNCASE, Arequipa, Peru.
Bryan C Cardenas-QuispeDivision of Neurology, Psychiatry and Radiology of the National Hospital ESSALUD-HNCASE, Arequipa, Peru.
Karin Jannet Vera-LopezLaboratory of Genomics and Neurovascular Diseases, Universidad Católica de Santa María, Arequipa, Peru.
Luis D Goyzueta-MamaniLaboratory of Genomics and Neurovascular Diseases, Universidad Católica de Santa María, Arequipa, Peru.
Miguel Angel Chavez-FumagalliLaboratory of Genomics and Neurovascular Diseases, Universidad Católica de Santa María, Arequipa, Peru.
Gonzalo Davila-Del-CarpioVicerrectorado de Investigación, Universidad Católica de Santa María, Arequipa, Peru.
Antero Peralta-MestasDivision of Neurology, Psychiatry and Radiology of the National Hospital ESSALUD-HNCASE, Arequipa, Peru.
Patricia L MusolinoDepartment of Neurology, Massachusetts General Hospital, Boston, MA, United States.
Christian Lacks Lino CardenasCardiovascular Research Center, Cardiology Division, Massachusetts General Hospital, Boston, MA, United States.
Catholic University of Santa María · PEMassachusetts General Hospital · US

Funding

MULTIDISCIPLINARY RESEARCH TRAINING IN CARDIOLOGYT32HL007208 · NHLBI · MASSACHUSETTS GENERAL HOSPITAL · PI Patrick Thomas Ellinor, David E Sosnovik · 1985 to 2026
$16.1M
Novel molecular mechanisms of vascular smooth muscle cell-mediated large and small artery calcificationK01HL164687 · NHLBI · MASSACHUSETTS GENERAL HOSPITAL · PI Christian Lacks Lino Cardenas · 2022 to 2026
$808k
NHLBI NIH HHS K01 HL164687NHLBI NIH HHS T32 HL007208
6 · The paper itself

Abstract

Evidence suggests that there may be racial differences in risk factors associated with the development of Alzheimer's disease and related dementia (ADRD). We used whole-genome sequencing analysis and identified a novel combination of three pathogenic variants in the heterozygous state (

Indexed as

Alzheimer’s diseaseAmerindian ancestral backgroundfamily-specific genetic factorunbiased gene discoverywhole genome sequencing

Identifiers

PMID36873109
PMCPMC9978490
OpenAlexW4321109639

What OpenQuestion holds

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LicenceCC BY
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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.