Evidence map›Paper›PMID 27081498›Full record

ArticleHuman genome variation2014

Study of Alzheimer family case reveals hemochromotosis-associated HFE mutation.

Artem V Artemov, Eugenia S Boulygina, Svetlana V Tsygankova, Artem V Nedoluzhko, Nikolay N Chekanov, Natalia M Gruzdeva, Natalia D Selezneva, Irina F Roshchina, Svetlana I Gavrilova, Boris B Velichkovsky and 2 more

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Human genome variation, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.4field-weighted citation impact, top 34% 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

1 citing paper in PubMed, 5 citations in OpenAlex.

  1. 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

12 authors at 4 institutions in 1 country.

Artem V ArtemovCenter 'Bioengineering', Russian Academy of Sciences , Moscow, Russia.
Eugenia S BoulyginaNational Research Center 'Kurchatov Institute' , Moscow, Russia.
Svetlana V TsygankovaNational Research Center 'Kurchatov Institute' , Moscow, Russia.
Artem V NedoluzhkoNational Research Center 'Kurchatov Institute' , Moscow, Russia.ORCID 0000-0001-7040-0892
Nikolay N ChekanovCenter 'Bioengineering', Russian Academy of Sciences , Moscow, Russia.ORCID 0000-0003-1131-3195
Natalia M GruzdevaNational Research Center 'Kurchatov Institute' , Moscow, Russia.
Natalia D SeleznevaMental Health Research Centre (MHRC), Russian Academy of Medical Science , Moscow, Russia.
Irina F RoshchinaMental Health Research Centre (MHRC), Russian Academy of Medical Science , Moscow, Russia.
Svetlana I GavrilovaMental Health Research Centre (MHRC), Russian Academy of Medical Science , Moscow, Russia.
Boris B VelichkovskyLomonosov Moscow State University , Moscow, Russia.
Konstantin G SkryabinCenter 'Bioengineering', Russian Academy of Sciences, Moscow, Russia; National Research Center 'Kurchatov Institute', Moscow, Russia.
Egor B ProkhortchoukCenter 'Bioengineering', Russian Academy of Sciences , Moscow, Russia.
Kurchatov Institute · RUMental Health Research Center of Russian Academy of Medical Sciences · RURussian Academy of Sciences · RULomonosov Moscow State University · RU

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

We report a family case of type II early-onset Alzheimer's disease (AD) inherited over three generations. None of the patients in the family had mutations in the genes believed to be the major risk factors for AD, such as APP, presenilin 1 or 2. Targeted exome sequencing of 249 genes that were previously reported to be associated with AD revealed a rare mutation in hemochromatosis (HFE) gene known to be associated with hemochromotosis. Compared to previous studies, we show that HFE mutation can possess the risk of AD in transferrin-, APOE- and APP-normal patients.

Identifiers

PMID27081498
PMCPMC4785525
OpenAlexW2314535810

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.