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Genetics and genomics etiology of nonsyndromic orofacial clefts
scientific article published on 17 January 2017
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scholarly article
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Europe PubMed Central
PMCID
5241211
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19 October 2017
title
Genetics and genomics etiology of nonsyndromic orofacial clefts
(English)
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Europe PubMed Central
PMCID
5241211
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19 October 2017
main subject
genomics
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author
Wasiu L. Adeyemo
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Wasiu L Adeyemo
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Azeez Butali
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2
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Europe PubMed Central
PMCID
5241211
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19 October 2017
publication date
17 January 2017
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Europe PubMed Central
PMCID
5241211
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19 October 2017
published in
Molecular genetics & genomic medicine
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Europe PubMed Central
PMCID
5241211
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19 October 2017
volume
5
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Europe PubMed Central
PMCID
5241211
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19 October 2017
issue
1
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Europe PubMed Central
PMCID
5241211
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19 October 2017
page(s)
3-7
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Europe PubMed Central
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5241211
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19 October 2017
cites work
Association Studies and Direct DNA Sequencing Implicate Genetic Susceptibility Loci in the Etiology of Nonsyndromic Orofacial Clefts in Sub-Saharan African Populations
1 reference
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PubMed Central
reference URL
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26 October 2017
Variants of the CDH1 (E-Cadherin) Gene Associated with Oral Clefts in the Thai Population.
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PubMed Central
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retrieved
26 October 2017
Sequencing the GRHL3 Coding Region Reveals Rare Truncating Mutations and a Common Susceptibility Variant for Nonsyndromic Cleft Palate
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5241211
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26 October 2017
A Genome-wide Association Study of Nonsyndromic Cleft Palate Identifies an Etiologic Missense Variant in GRHL3.
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PubMed Central
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retrieved
26 October 2017
Rare Variants in the Epithelial Cadherin Gene Underlying the Genetic Etiology of Nonsyndromic Cleft Lip with or without Cleft Palate
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PubMed Central
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DNA methylation as a dynamic regulator of development and disease processes: spotlight on the prostate
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Early-life influences on obesity: from preconception to adolescence
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26 October 2017
A genome-wide study of inherited deletions identified two regions associated with nonsyndromic isolated oral clefts
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PubMed Central
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26 October 2017
Identification of functional variants for cleft lip with or without cleft palate in or near PAX7, FGFR2, and NOG by targeted sequencing of GWAS loci
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PubMed Central
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26 October 2017
Epigenetics and life-long consequences of an adverse nutritional and diabetic intrauterine environment
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26 October 2017
Novel IRF6 mutations in families with Van Der Woude syndrome and popliteal pterygium syndrome from sub-Saharan Africa
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26 October 2017
Whole exome sequencing of distant relatives in multiplex families implicates rare variants in candidate genes for oral clefts
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PubMed Central
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26 October 2017
A genome-wide study of de novo deletions identifies a candidate locus for non-syndromic isolated cleft lip/palate risk
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5241211
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26 October 2017
An etiologic regulatory mutation in IRF6 with loss- and gain-of-function effects.
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PubMed Central
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26 October 2017
Dominant mutations in GRHL3 cause Van der Woude Syndrome and disrupt oral periderm development
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5241211
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26 October 2017
Folic acid supplementation use and the MTHFR C677T polymorphism in orofacial clefts etiology: An individual participant data pooled-analysis
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PubMed Central
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26 October 2017
Comparative analysis of IRF6 variants in families with Van der Woude syndrome and popliteal pterygium syndrome using public whole-exome databases
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5241211
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26 October 2017
Expression and mutation analyses implicate ARHGAP29 as the etiologic gene for the cleft lip with or without cleft palate locus identified by genome-wide association on chromosome 1p22.
1 reference
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5241211
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26 October 2017
A systematic review of associated structural and chromosomal defects in oral clefts: when is prenatal genetic analysis indicated?
1 reference
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5241211
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26 October 2017
Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5241211
retrieved
26 October 2017
Genetic studies in the Nigerian population implicate an MSX1 mutation in complex oral facial clefting disorders.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5241211
retrieved
26 October 2017
A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5241211
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26 October 2017
Van der Woude syndrome: dentofacial features and implications for clinical practice
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5241211
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26 October 2017
Genome-wide association study identifies two susceptibility loci for nonsyndromic cleft lip with or without cleft palate
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5241211
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26 October 2017
FOXE1 association with both isolated cleft lip with or without cleft palate, and isolated cleft palate
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5241211
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26 October 2017
A genome-wide association study identifies a locus for nonsyndromic cleft lip with or without cleft palate on 8q24.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5241211
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26 October 2017
Prevalence and nonrandom distribution of exonic mutations in interferon regulatory factor 6 in 307 families with Van der Woude syndrome and 37 families with popliteal pterygium syndrome
1 reference
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5241211
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26 October 2017
Key susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24.
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5241211
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26 October 2017
Mutations in BMP4 are associated with subepithelial, microform, and overt cleft lip.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5241211
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26 October 2017
Disruption of an AP-2alpha binding site in an IRF6 enhancer is associated with cleft lip
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5241211
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26 October 2017
CRISPLD2: a novel NSCLP candidate gene
1 reference
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5241211
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26 October 2017
Oral clefts and life style factors--a case-cohort study based on prospective Danish data
1 reference
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5241211
retrieved
26 October 2017
SUMO1 haploinsufficiency leads to cleft lip and palate
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5241211
retrieved
26 October 2017
In a Vietnamese population, MSX1 variants contribute to cleft lip and palate
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5241211
retrieved
26 October 2017
Interferon regulatory factor 6 (IRF6) gene variants and the risk of isolated cleft lip or palate
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5241211
retrieved
26 October 2017
Meta-analysis of 13 genome scans reveals multiple cleft lip/palate genes with novel loci on 9q21 and 2q32-35.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5241211
retrieved
26 October 2017
Tobacco smoking and oral clefts: a meta-analysis.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5241211
retrieved
26 October 2017
Complete sequencing shows a role for MSX1 in non-syndromic cleft lip and palate
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5241211
retrieved
26 October 2017
Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5241211
retrieved
26 October 2017
Genetic Linkage Analysis
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5241211
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26 October 2017
Msx1 deficient mice exhibit cleft palate and abnormalities of craniofacial and tooth development
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5241211
retrieved
26 October 2017
Association of genetic variation of the transforming growth factor-alpha gene with cleft lip and palate
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5241211
retrieved
26 October 2017
Linkage of an autosomal dominant clefting syndrome (Van der Woude) to loci on chromosome Iq.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5241211
retrieved
26 October 2017
Exome sequencing provides additional evidence for the involvement of ARHGAP29 in Mendelian orofacial clefting and extends the phenotypic spectrum to isolated cleft palate.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5241211
retrieved
17 August 2018
Genome-wide association study identifies a new susceptibility locus for cleft lip with or without a cleft palate.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5241211
retrieved
17 August 2018
Strong association of variants around FOXE1 and orofacial clefting.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5241211
retrieved
17 August 2018
Replication of genome wide association identified candidate genes confirm the role of common and rare variants in PAX7 and VAX1 in the etiology of nonsyndromic CL(P).
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5241211
retrieved
17 August 2018
Resequencing of VAX1 in patients with nonsyndromic cleft lip with or without cleft palate.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5241211
retrieved
17 August 2018
Mapping of the second locus for the Van der Woude syndrome to chromosome 1p34.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5241211
retrieved
17 August 2018
Sequence evaluation of FGF and FGFR gene conserved non-coding elements in non-syndromic cleft lip and palate cases
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/28116324
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Identifiers
DOI
10.1002/MGG3.272
1 reference
stated in
Europe PubMed Central
PMCID
5241211
retrieved
19 October 2017
PMCID
5241211
1 reference
stated in
Europe PubMed Central
PMCID
5241211
retrieved
19 October 2017
PubMed ID
28116324
1 reference
stated in
Europe PubMed Central
PMCID
5241211
retrieved
19 October 2017
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