Evidence map›Paper›PMID 33668384›Full record

ArticleInternational journal of molecular sciences2021

New Insights on the Genetic Basis Underlying SHILCA Syndrome: Characterization of the

Víctor Abad-Morales, Ana Wert, María Ángeles Ruiz Gómez, Rafael Navarro, Esther Pomares

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

Article in International journal of molecular sciences, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
0.6field-weighted citation impact, top 37% 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

4 citing papers in PubMed, 7 citations in OpenAlex.

  1. Expression of NMNAT1 in the photoreceptors is sufficient to preventMolecular therapy. Methods & clinical development · 2023
    Article
  2. Role of Nuclear NADAdvances in experimental medicine and biology · 2023
    Review
  3. Inherited Retinal Diseases.International journal of molecular sciences · 2022
    Article
  4. 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

5 authors at 2 institutions in 1 country.

Víctor Abad-MoralesFundació de Recerca de l'Institut de Microcirurgia Ocular, 08035 Barcelona, Spain.ORCID 0000-0001-7684-956X
Ana WertFundació de Recerca de l'Institut de Microcirurgia Ocular, 08035 Barcelona, Spain.ORCID 0000-0001-9426-2412
María Ángeles Ruiz GómezPediatric Metabolic Unit and Neuropediatrics, Hospital Universitari Son Espases, 07120 Palma de Mallorca, Spain.
Rafael NavarroFundació de Recerca de l'Institut de Microcirurgia Ocular, 08035 Barcelona, Spain.
Esther PomaresFundació de Recerca de l'Institut de Microcirurgia Ocular, 08035 Barcelona, Spain.ORCID 0000-0002-3818-3303
Instituto de Microcirugía Ocular · ESHospital Universitario Son Espases · ES

Funding

Private donation Fi-201401
6 · The paper itself

Abstract

This study aims to genetically characterize a two-year-old patient suffering from multiple systemic abnormalities, including skeletal, nervous and developmental involvements and Leber congenital amaurosis (LCA). Genetic screening by next-generation sequencing identified two heterozygous pathogenic variants in nicotinamide mononucleotide adenylyltransferase 1 (

Indexed as

Child, PreschoolFemaleHearing Loss, SensorineuralHeterozygoteHumansIntellectual DisabilityLeber Congenital AmaurosisMaleMutationNicotinamide-Nucleotide AdenylyltransferaseOsteochondrodysplasiasPedigreeProtein IsoformsNicotinamide-Nucleotide AdenylyltransferaseNMNAT1 protein, humanProtein Isoformsdevelopmental delayhypomyelinationinherited retinal diseasesLeber congenital amaurosis (LCA)macular colobomanicotinamide mononucleotide adenylyltransferase 1 (NMNAT1)sensorineural hearing lossspondylo-epiphyseal dysplasiaspondylo-epiphyseal dysplasia, sensorineural hearing loss, intellectual disability and Leber congenital amaurosis (SHILCA)transcriptional alteration

Identifiers

PMID33668384
PMCPMC7956282
OpenAlexW3129500005

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.