Evidence map›Paper›PMID 26868259›Full record

ArticleBMC genetics2016

Discovery of candidate genes for nonsyndromic cleft lip palate through genome-wide linkage analysis of large extended families in the Malay population.

Nurul Syazana Mohamad Shah, Iman Salahshourifar, Sarina Sulong, Wan Azman Wan Sulaiman, Ahmad Sukari Halim

Open access · diamondAbstract read
In one paragraph

Article in BMC genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.

0numbers the graph read from it
0cells of the map it votes in
12citing 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

12 citing papers in PubMed, 31 citations in OpenAlex.

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  9. The multisystemic functions of FOXD1 in development and disease.Journal of molecular medicine (Berlin, Germany) · 2018
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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

5 authors at 1 institution in 1 country.

Nurul Syazana Mohamad ShahReconstructive Science Unit, School of Medical Sciences, Universiti Sains Malaysia, Kelantan, Malaysia. sya_escoe@yahoo.co.uk.
Iman SalahshourifarDepartment of Biology, School of Basic Sciences, Science and Research Branch, Islamic Azad University, Isfahan, Iran. isalahshouri@gmail.com.
Sarina SulongHuman Genome Center, School of Medical Sciences, Universiti Sains Malaysia, Kelantan, Malaysia. ssarina@usm.my.
Wan Azman Wan SulaimanReconstructive Science Unit, School of Medical Sciences, Universiti Sains Malaysia, Kelantan, Malaysia. wazman@usm.my.
Ahmad Sukari HalimSchool of Medical Sciences, Health Campus, Universiti Sains Malaysia, Kelantan, Malaysia. ashalim@usm.my.
Universiti Sains Malaysia · MY

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundNonsyndromic orofacial clefts are one of the most common birth defects worldwide. It occurs as a result of genetic or environmental factors. This study investigates the genetic contribution to nonsyndromic cleft lip and/or palate through the analysis of family pedigrees. Candidate genes associated with the condition were identified from large extended families from the Malay population.

resultsA significant nonparametric linkage (NPL) score was detected in family 100. Other suggestive NPL and logarithm of the odds (LOD) scores were attained from families 50, 58, 99 and 100 under autosomal recessive mode. Heterogeneity LOD (HLOD) score ≥ 1 was determined for all families, confirming genetic heterogeneity of the population and indicating that a proportion of families might be linked to each other. Several candidate genes in linkage intervals were determined; LPHN2 at 1p31, SATB2 at 2q33.1-q35, PVRL3 at 3q13.3, COL21A1 at 6p12.1, FOXP2 at 7q22.3-q33, FOXG1 and HECTD1 at 14q12 and TOX3 at 16q12.1.

conclusionsWe have identified several novel and known candidate genes for nonsyndromic cleft lip and/or palate through genome-wide linkage analysis. Further analysis of the involvement of these genes in the condition will shed light on the disease mechanism. Comprehensive genetic testing of the candidate genes is warranted.

Indexed as

Genome-Wide Association StudyApoptosis Regulatory ProteinsAsian PeopleBrainCell Adhesion MoleculesChromosome MappingCleft LipCleft PalateDatabases, GeneticForkhead Transcription FactorsGenetic Predisposition to DiseaseHigh Mobility Group ProteinsHumansLod ScoreMalaysiaMatrix Attachment Region Binding ProteinsADGRL2 protein, humanApoptosis Regulatory ProteinsCell Adhesion MoleculesForkhead Transcription FactorsFOXP2 protein, humanHECTD1 protein, humanHigh Mobility Group ProteinsMatrix Attachment Region Binding ProteinsNECTIN3 protein, humanNectinsReceptors, G-Protein-CoupledReceptors, ProgesteroneSATB2 protein, humanTOX3 protein, humanTrans-ActivatorsTranscription FactorsUbiquitin-Protein Ligases

Identifiers

PMID26868259
PMCPMC4751652
OpenAlexW2258363138

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.