Evidence map›Paper›PMID 34307341›Full record

ArticleFrontiers in cell and developmental biology2021

Identification of Novel Variants in Cleft Palate-Associated Genes in Brazilian Patients With Non-syndromic Cleft Palate Only.

Renato Assis Machado, Hercílio Martelli-Junior, Silvia Regina de Almeida Reis, Erika Calvano Küchler, Rafaela Scariot, Lucimara Teixeira das Neves, Ricardo D Coletta

Open access · goldAbstract read
In one paragraph

Article in Frontiers in cell and developmental biology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.

0numbers the graph read from it
0cells of the map it votes in
9citing papers in PubMed
1.0field-weighted citation impact, top 21% 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

9 citing papers in PubMed, 10 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

7 authors at 6 institutions in 2 countries.

Renato Assis MachadoDepartment of Oral Diagnosis, School of Dentistry, University of Campinas (FOP), Piracicaba, Brazil.
Hercílio Martelli-JuniorStomatology Clinic, School of Dental, State University of Montes Claros, Montes Claros, Brazil.
Silvia Regina de Almeida ReisDepartment of Basic Science, Bahiana School of Medicine and Public Health, Salvador, Brazil.
Erika Calvano KüchlerDepartment of Orthodontics, University of Regensburg, Regensburg, Germany.
Rafaela ScariotDepartment of Oral and Maxillofacial Surgery, School of Health Science, Federal University of Paraná, Curitiba, Brazil.
Lucimara Teixeira das NevesHospital for Rehabilitation of Craniofacial Anomalies, University of São Paulo, Bauru, Brazil.
Ricardo D ColettaDepartment of Oral Diagnosis, School of Dentistry, University of Campinas (FOP), Piracicaba, Brazil.
Universidade de São Paulo · BREscola Bahiana de Medicina e Saúde Pública · BRUniversidade Estadual de Campinas (UNICAMP) · BRUniversidade Federal do Paraná · BRUniversidade José do Rosário Vellano · BRUniversity of Regensburg · DE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The identification of genetic risk factors for non-syndromic oral clefts is of great importance for better understanding the biological processes related to this heterogeneous and complex group of diseases. Herein we applied whole-exome sequencing to identify potential variants related to non-syndromic cleft palate only (NSCPO) in the multiethnic Brazilian population. Thirty NSCPO samples and 30 sex- and genetic ancestry-matched healthy controls were pooled (3 pools with 10 samples for each group) and subjected to whole-exome sequencing. After filtering, the functional affects, individually and through interactions, of the selected variants and genes were assessed by bioinformatic analyses. As a group, 399 variants in 216 genes related to palatogenesis/cleft palate, corresponding to 6.43%, were exclusively identified in the NSCPO pools. Among those genes are 99 associated with syndromes displaying cleft palate in their clinical spectrum and 92 previously related to cleft lip palate. The most significantly biological processes and pathways overrepresented in the NSCPO-identified genes were associated with the folic acid metabolism, highlighting the interaction between LDL receptor-related protein 6 (

Indexed as

exome sequencenon-syndromic cleft palate onlyoral cleftrisk factorsyndrome

Identifiers

PMID34307341
PMCPMC8297955
OpenAlexW3179979663

What OpenQuestion holds

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Registered trials

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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.