Evidence map›Paper›PMID 35885962›Full record

ArticleGenes2022

Genotype-Phenotype Correlation and Functional Insights for Two Monoallelic

Giulia Amico, Wayne O Hemphill, Mariasavina Severino, Claudio Moratti, Rosario Pascarella, Marta Bertamino, Flavia Napoli, Stefano Volpi, Francesca Rosamilia, Sara Signa and 4 more

Open access · goldAbstract read
In one paragraph

Article in Genes, 2022. 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
0.2field-weighted citation impact, top 55% 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, 2 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

14 authors at 5 institutions in 2 countries.

Giulia AmicoDepartment of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, 16132 Genoa, Italy.ORCID 0000-0002-8249-2015
Wayne O HemphillCenter for Structural Biology, Department of Biochemistry, Wake Forest School of Medicine, Winston-Salem, NC 27101, USA.ORCID 0000-0002-8136-1574
Mariasavina SeverinoNeuroradiology Unit-IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.ORCID 0000-0003-4730-5322
Claudio MorattiNeuroradiology Unit, Azienda Unità Sanitaria Locale-IRCCS di Reggio Emilia, 42122 Reggio Emilia, Italy.
Rosario PascarellaNeuroradiology Unit, Azienda Unità Sanitaria Locale-IRCCS di Reggio Emilia, 42122 Reggio Emilia, Italy.
Marta BertaminoPhysical Medicine and Rehabilitation Unit, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.ORCID 0000-0002-8096-7806
Flavia NapoliDepartments of Pediatrics, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.ORCID 0000-0003-3567-6118
Stefano VolpiAutoinflammatory Diseases and Immunodeficiencies Center, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.ORCID 0000-0002-7129-868X
Francesca RosamiliaBiostatistic Unit, Health Science Department (DISSAL), University of Genoa, 16132 Genoa, Italy.
Sara SignaAutoinflammatory Diseases and Immunodeficiencies Center, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.
Fred PerrinoCenter for Structural Biology, Department of Biochemistry, Wake Forest School of Medicine, Winston-Salem, NC 27101, USA.
Marialuisa ZeddeNeurology Unit, Stroke Unit, Azienda Unità Sanitaria Locale-IRCCS di Reggio Emilia, 42122 Reggio Emilia, Italy.ORCID 0000-0001-7530-818X
Isabella CeccheriniLaboratory of Genetics and Genomics of Rare Diseases, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.ORCID 0000-0001-8732-1955
On Behalf Of The Gaslini Stroke Study Group
Istituto Giannina Gaslini · ITAzienda Sanitaria Unità Locale di Reggio Emilia · ITHoward Hughes Medical Institute · USUniversity of Genoa · ITWake Forest University · US

Funding

Tumor Tissue CoreP30CA012197 · NCI · WAKE FOREST UNIVERSITY HEALTH SCIENCES · PI Ruben A. Mesa · 1985 to 2026
$55.4M
TRAINING PROGRAM IN IMMUNOLOGY AND PATHOGENESIST32AI007401 · NIAID · WAKE FOREST UNIVERSITY HEALTH SCIENCES · PI Martha Ann Alexander-Miller · 1991 to 2026
$4.4M
The TREX1 Pathway in Autoimmune DiseaseR01AI116725 · NIAID · WAKE FOREST UNIVERSITY HEALTH SCIENCES · PI PERRINO, FRED W · 2016 to 2020
$1.9M
Structural and Computational Biophysics Training ProgramT32GM095440 · NIGMS · WAKE FOREST UNIVERSITY HEALTH SCIENCES · PI HOLLIS, THOMAS J, LYLES, DOUGLAS S. · 2011 to 2020
$1.7M
NCI NIH HHS P30 CA012197NIAID NIH HHS R01 AI116725NIAID NIH HHS T32 AI007401NIGMS NIH HHS T32 GM095440NIH HHS R01AI116725NIH HHS T32-AI007401NIH HHS T32-GM095440
6 · The paper itself

Abstract

The TREX1 exonuclease degrades DNA to prevent aberrant nucleic-acid sensing through the cGAS-STING pathway, and dominant Aicardi-Goutières Syndrome type 1 (AGS1) represents one of numerous

Indexed as

CADASILAutoimmune Diseases of the Nervous SystemCatalytic DomainExodeoxyribonucleasesGenetic Association StudiesHumansMutation, MissenseNervous System MalformationsPhosphoproteinsExodeoxyribonucleasesPhosphoproteinsthree prime repair exonuclease 1Aicardi-Goutières SyndromeCADASIL-like geneticsmonogenic strokesmall vessel diseasestroke geneticsTREX1 disordersTREX1 functional assay

Identifiers

PMID35885962
PMCPMC9323106
OpenAlexW4283753341

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.