Evidence map›Paper›PMID 34828412›Full record

ArticleGenes2021

Two Rare Variants in

Katarzyna Gaweda-Walerych, Emilia J Sitek, Małgorzata Borczyk, Mariusz Berdyński, Ewa Narożańska, Bogna Brockhuis, Michał Korostyński, Jarosław Sławek, Cezary Zekanowski

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

Article in Genes, 2021. 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
0.5field-weighted citation impact, top 28% 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, 4 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

9 authors at 4 institutions in 1 country.

Katarzyna Gaweda-WalerychLaboratory of Neurogenetics, Mossakowski Medical Research Institute, Polish Academy of Sciences, 02-106 Warsaw, Poland.ORCID 0000-0001-8670-1200
Emilia J SitekNeurology Department, St. Adalbert Hospital, Copernicus PL, 80-462 Gdansk, Poland.ORCID 0000-0003-4141-072X
Małgorzata BorczykLaboratory of Pharmacogenomics, Department of Molecular Pharmacology, Maj Institute of Pharmacology Polish Academy of Sciences, 31-343 Krakow, Poland.
Mariusz BerdyńskiLaboratory of Neurogenetics, Mossakowski Medical Research Institute, Polish Academy of Sciences, 02-106 Warsaw, Poland.ORCID 0000-0003-2076-4318
Ewa NarożańskaNeurology Department, St. Adalbert Hospital, Copernicus PL, 80-462 Gdansk, Poland.
Bogna BrockhuisDivision of Nuclear Medicine, Faculty of Health Sciences, Medical University of Gdansk, 80-214 Gdansk, Poland.
Michał KorostyńskiLaboratory of Pharmacogenomics, Department of Molecular Pharmacology, Maj Institute of Pharmacology Polish Academy of Sciences, 31-343 Krakow, Poland.
Jarosław SławekNeurology Department, St. Adalbert Hospital, Copernicus PL, 80-462 Gdansk, Poland.
Cezary ZekanowskiLaboratory of Neurogenetics, Mossakowski Medical Research Institute, Polish Academy of Sciences, 02-106 Warsaw, Poland.ORCID 0000-0001-7332-8494
Copernicus Memorial Hospital · PLMossakowski Medical Research Institute, Polish Academy of Sciences · PLMaj Institute of Pharmacology · PLGdańsk Medical University · PL

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

We have performed whole-genome sequencing to identify the genetic variants potentially contributing to the early-onset semantic dementia phenotype in a patient with family history of dementia and episodic memory deficit accompanied with profound semantic loss. Only very rare variants of unknown significance (VUS) have been identified: a nonsense variant c.366C>A/p.Cys122* in plasminogen activator, urokinase (PLAU) and a missense variant c.944C>T/p.Thr315Met in β-site APP-cleaving enzyme 1 (BACE1)-along with known disease-modifying variants of moderate penetrance. Patient-derived fibroblasts showed reduced

Indexed as

PenetranceAgedAged, 80 and overAge of OnsetAmyloid Precursor Protein SecretasesAspartic Acid EndopeptidasesCells, CulturedFemaleFibroblastsFrontotemporal DementiaHumansMaleMembrane ProteinsMiddle AgedMutationPedigreeAmyloid Precursor Protein SecretasesAspartic Acid EndopeptidasesBACE1 protein, humanMembrane ProteinsPLAU protein, humanatypical Alzheimer’s diseasemagnetic resonance imaging (MRI)mtDNA polymerase gamma (POLG)primary skin fibroblastssemantic dementiasingle-photon emission computed tomography (SPECT)urokinase-type plasminogen activator (PLAU) haploinsuficiencywhole-genome sequencing (WGS)β-site APP-cleaving enzyme 1 (BACE1)

Identifiers

PMID34828412
PMCPMC8624613
OpenAlexW3211401382

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.