Evidence map›Paper›PMID 35600585›Full record

ArticleFrontiers in endocrinology2022

Silent but Not Harmless: A Synonymous

Romina Celeste Geysels, Carlos Eduardo Bernal Barquero, Mariano Martín, Victoria Peyret, Martina Nocent, Gabriela Sobrero, Liliana Muñoz, Malvina Signorino, Graciela Testa, Ricardo Belisario Castro and 3 more

Open access · goldAbstract read
In one paragraph

Article in Frontiers in endocrinology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed
2.4field-weighted citation impact, top 11% 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

7 citing papers in PubMed, 13 citations in OpenAlex.

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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

13 authors at 4 institutions in 1 country.

Romina Celeste GeyselsDepartamento de Bioquímica Clínica, Facultad de Ciencias Químicas, Universidad Nacional de Córdoba, Córdoba, Argentina.
Carlos Eduardo Bernal BarqueroDepartamento de Bioquímica Clínica, Facultad de Ciencias Químicas, Universidad Nacional de Córdoba, Córdoba, Argentina.
Mariano MartínDepartamento de Bioquímica Clínica, Facultad de Ciencias Químicas, Universidad Nacional de Córdoba, Córdoba, Argentina.
Victoria PeyretDepartamento de Bioquímica Clínica, Facultad de Ciencias Químicas, Universidad Nacional de Córdoba, Córdoba, Argentina.
Martina NocentDepartamento de Bioquímica Clínica, Facultad de Ciencias Químicas, Universidad Nacional de Córdoba, Córdoba, Argentina.
Gabriela SobreroPrograma Provincial de Pesquisa Neonatal, Servicio de Endocrinología, Hospital de Niños de la Santísima Trinidad de Córdoba, Córdoba, Argentina.
Liliana MuñozPrograma Provincial de Pesquisa Neonatal, Servicio de Endocrinología, Hospital de Niños de la Santísima Trinidad de Córdoba, Córdoba, Argentina.
Malvina SignorinoPrograma Provincial de Pesquisa Neonatal, Servicio de Endocrinología, Hospital de Niños de la Santísima Trinidad de Córdoba, Córdoba, Argentina.
Graciela TestaPrograma Provincial de Pesquisa Neonatal, Servicio de Endocrinología, Hospital de Niños de la Santísima Trinidad de Córdoba, Córdoba, Argentina.
Ricardo Belisario CastroServicio de Medicina Nuclear, Hospital Nacional de Clínicas, Córdoba, Argentina.
Ana María Masini-RepisoDepartamento de Bioquímica Clínica, Facultad de Ciencias Químicas, Universidad Nacional de Córdoba, Córdoba, Argentina.
Mirta Beatriz MirasPrograma Provincial de Pesquisa Neonatal, Servicio de Endocrinología, Hospital de Niños de la Santísima Trinidad de Córdoba, Córdoba, Argentina.
Juan Pablo NicolaDepartamento de Bioquímica Clínica, Facultad de Ciencias Químicas, Universidad Nacional de Córdoba, Córdoba, Argentina.
Hospital de Niños de la Santísima Trinidad · ARResearch Centre in Biological Chemistry of Córdoba · ARConsejo Nacional de Investigaciones Científicas y Técnicas · ARUniversidad Nacional de Córdoba · AR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Congenital iodide transport defect (ITD) is an uncommon cause of dyshormonogenic congenital hypothyroidism characterized by the absence of active iodide accumulation in the thyroid gland. ITD is an autosomal recessive disorder caused by loss-of-function variants in the sodium/iodide symporter (NIS)-coding Objective: We aimed to identify, and if so to functionally characterize, novel ITD-causing Methods: The coding region of the Results: Sanger sequencing revealed a novel homozygous synonymous Conclusions: We identified the first exonic synonymous

Indexed as

Congenital HypothyroidismSymportersChildExonsHumansIodidesRNA PrecursorsSodium-Iodide SymportersIodidesRNA PrecursorsSodium-Iodide SymportersSymporterscongenital hypothyroidismiodide transport defectpathogenic synonymous variantpre-mRNA splicing defectsodium/iodide symporter

Identifiers

PMID35600585
PMCPMC9114739
OpenAlexW4225427012

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.