Evidence map›Paper›PMID 30704473›Full record

ArticleBMC medical genomics2019

Network-based identification of critical regulators as putative drivers of human cleft lip.

Aimin Li, Guimin Qin, Akiko Suzuki, Mona Gajera, Junichi Iwata, Peilin Jia, Zhongming Zhao

Open access · goldAbstract read
In one paragraph

Article in BMC medical genomics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.

0numbers the graph read from it
0cells of the map it votes in
14citing papers in PubMed
2.7field-weighted citation impact, top 10% 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

14 citing papers in PubMed, 21 citations in OpenAlex.

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  5. mEpigenetics · 2022
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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 2 institutions in 2 countries.

Aimin LiShaanxi Key Laboratory for Network Computing and Security Technology, School of Computer Science and Engineering, Xi'an University of Technology, Xi'an, 710048, Shaanxi, China.
Guimin QinCenter for Precision Health, School of Biomedical Informatics, The University of Texas Health Science Center at Houston, 7000 Fannin St., Suite 820, Houston, TX, 77030, USA.
Akiko SuzukiDepartment of Diagnostic and Biomedical Sciences, School of Dentistry, The University of Texas Health Science Center at Houston, Houston, TX, 77054, USA.
Mona GajeraDepartment of Diagnostic and Biomedical Sciences, School of Dentistry, The University of Texas Health Science Center at Houston, Houston, TX, 77054, USA.
Junichi IwataDepartment of Diagnostic and Biomedical Sciences, School of Dentistry, The University of Texas Health Science Center at Houston, Houston, TX, 77054, USA.
Peilin JiaCenter for Precision Health, School of Biomedical Informatics, The University of Texas Health Science Center at Houston, 7000 Fannin St., Suite 820, Houston, TX, 77030, USA. Peilin.Jia@uth.tmc.edu.
Zhongming ZhaoCenter for Precision Health, School of Biomedical Informatics, The University of Texas Health Science Center at Houston, 7000 Fannin St., Suite 820, Houston, TX, 77030, USA. zhongming.zhao@uth.tmc.edu.
The University of Texas Health Science Center at Houston · USXi'an University of Technology · CN

Funding

Transforming dbGaP genetic and genomic data to FAIR-ready by artificial intelligence and machine learning algorithmsR01LM012806 · NLM · UNIVERSITY OF TEXAS HLTH SCI CTR HOUSTON · PI Zhongming Zhao · 2017 to 2026
$3.7M
Molecular Regulatory Mechanism of Calvaria Bone Development and HomeostasisR01DE026767 · NIDCR · UNIVERSITY OF TEXAS HLTH SCI CTR HOUSTON · PI IWATA, JUNICHI · 2017 to 2021
$1.8M
Transcripts and Functions Targeted by Non-coding RNAs in Palate DevelopmentR03DE026208 · NIDCR · UNIVERSITY OF TEXAS HLTH SCI CTR HOUSTON · PI IWATA, JUNICHI · 2016 to 2017
$462k
Identification of microRNAs associated with cleft lipR03DE026509 · NIDCR · UNIVERSITY OF TEXAS HLTH SCI CTR HOUSTON · PI IWATA, JUNICHI · 2017 to 2018
$462k
Molecular Regulatory Network in Frontonasal DevelopmentR03DE028340 · NIDCR · UNIVERSITY OF TEXAS HLTH SCI CTR HOUSTON · PI IWATA, JUNICHI · 2019 to 2020
$309k
Deep learning methods to predict the function of genetic variants in orofacial cleftsR03DE027711 · NIDCR · UNIVERSITY OF TEXAS HLTH SCI CTR HOUSTON · PI ZHAO, ZHONGMING · 2018 to 2019
$308k
Mining Genomic Data in FaceBase for Cleft GenesR03DE028103 · NIDCR · UNIVERSITY OF TEXAS HLTH SCI CTR HOUSTON · PI ZHAO, ZHONGMING · 2018 to 2019
$308k
Transcriptional and Post-transcriptional Co-regulation in Lip DevelopmentR03DE027393 · NIDCR · UNIVERSITY OF TEXAS HLTH SCI CTR HOUSTON · PI IWATA, JUNICHI, ZHAO, ZHONGMING · 2018 to 2019
$308k
NIDCR NIH HHS R01 DE026767NIDCR NIH HHS R03 DE026208NIDCR NIH HHS R03 DE026509NIDCR NIH HHS R03 DE027393NIDCR NIH HHS R03 DE027711NIDCR NIH HHS R03 DE028103NIDCR NIH HHS R03 DE028340NLM NIH HHS R01 LM012806
6 · The paper itself

Abstract

backgroundCleft lip (CL) is one of the most common congenital birth defects with complex etiology. While genome-wide association studies (GWAS) have made significant advances in our understanding of mutations and their related genes with potential involvement in the etiology of CL, it remains unknown how these genes are functionally regulated and interact with each other in lip development. Currently, identifying the disease-causing genes in human CL is urgently needed. So far, the causative CL genes have been largely undiscovered, making it challenging to design experiments to validate the functional influence of the mutations identified from large genomic studies such as CL GWAS.

resultsTranscription factors (TFs) and microRNAs (miRNAs) are two important regulators in cellular system. In this study, we aimed to investigate the genetic interactions among TFs, miRNAs and the CL genes curated from the previous studies. We constructed miRNA-TF co-regulatory networks, from which the critical regulators as putative drivers in CL were examined. Based on the constructed networks, we identified ten critical hub genes with prior evidence in CL. Furthermore, the analysis of partitioned regulatory modules highlighted a number of biological processes involved in the pathology of CL, including a novel pathway "Signaling pathway regulating pluripotency of stem cells". Our subnetwork analysis pinpointed two candidate miRNAs, hsa-mir-27b and hsa-mir-497, activating the Wnt pathway that was associated with CL. Our results were supported by an independent gene expression dataset in CL.

conclusionsThis study represents the first regulatory network analysis of CL genes. Our work presents a global view of the CL regulatory network and a novel approach on investigating critical miRNAs, TFs and genes via combinatory regulatory networks in craniofacial development. The top genes and miRNAs will be important candidates for future experimental validation of their functions in CL.

Indexed as

Gene Regulatory NetworksCleft LipComputational BiologyHumansMicroRNAsTranscription FactorsWnt Signaling PathwayMicroRNAsTranscription FactorsCleft lipDisease-causing geneFeed forward loopmicroRNARegulatory networkTranscription factor

Identifiers

PMID30704473
PMCPMC6357351
OpenAlexW2912019363

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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.