Cargando…

Identification of common non-coding variants at 1p22 that are functional for non-syndromic orofacial clefting

Genome-wide association studies (GWAS) do not distinguish between single nucleotide polymorphisms (SNPs) that are causal and those that are merely in linkage-disequilibrium with causal mutations. Here we describe a versatile, functional pipeline and apply it to SNPs at 1p22, a locus identified in se...

Descripción completa

Detalles Bibliográficos
Autores principales:	Liu, Huan, Leslie, Elizabeth J., Carlson, Jenna C., Beaty, Terri H., Marazita, Mary L., Lidral, Andrew C., Cornell, Robert A.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group 2017
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5355807/ https://www.ncbi.nlm.nih.gov/pubmed/28287101 http://dx.doi.org/10.1038/ncomms14759

Ejemplares similares

Rare genetic variants in SEC24D modify orofacial cleft phenotypes
por: Curtis, Sarah W., et al.
Publicado: (2023)

Genetic factors influencing risk to orofacial clefts: today’s challenges and tomorrow’s opportunities
por: Beaty, Terri H., et al.
Publicado: (2016)

Detecting Gene-Environment Interaction for Maternal Exposures Using Case-Parent Trios Ascertained Through a Case With Non-Syndromic Orofacial Cleft
por: Zhang, Wanying, et al.
Publicado: (2021)

Pleiotropy method reveals genetic overlap between orofacial clefts at multiple novel loci from GWAS of multi-ethnic trios
por: Ray, Debashree, et al.
Publicado: (2021)

Genome-wide Interaction Study Implicates VGLL2 and Alcohol Exposure and PRL and Smoking in Orofacial Cleft Risk
por: Carlson, Jenna C., et al.
Publicado: (2022)

Rare variants found in multiplex families with orofacial clefts: Does expanding the phenotype make a difference?
por: Perez, Kimberly K. Diaz, et al.
Publicado: (2023)

Clinically actionable secondary findings in 130 triads from sub‐Saharan African families with non‐syndromic orofacial clefts
por: Oladayo, Abimbola, et al.
Publicado: (2023)

Integrative approaches generate insights into the architecture of non-syndromic cleft lip with or without cleft palate
por: Welzenbach, Julia, et al.
Publicado: (2021)

Common basis for orofacial clefting and cortical interneuronopathy
por: Ansen-Wilson, Lydia J., et al.
Publicado: (2018)

Subphenotypes in Non-Syndromic Orofacial Cleft Patients Based on the Tooth Agenesis Code (TAC)
por: Konstantonis, Dimitrios, et al.
Publicado: (2022)

Individuals with nonsyndromic orofacial clefts have increased asymmetry of fingerprint patterns
por: Neiswanger, Katherine, et al.
Publicado: (2020)

Tooth Agenesis Patterns in Orofacial Clefting Using Tooth Agenesis Code: A Meta-Analysis
por: Howe, Brian J., et al.
Publicado: (2022)

Facial morphometrics of children with NON-syndromic orofacial clefts in Tanzania
por: Manyama, Mange, et al.
Publicado: (2014)

An assessment of orofacial clefts in Tanzania
por: Manyama, Mange, et al.
Publicado: (2011)

Whole genome sequencing of orofacial cleft trios from the Gabriella Miller Kids First Pediatric Research Consortium identifies a new locus on chromosome 21
por: Mukhopadhyay, Nandita, et al.
Publicado: (2019)

Systematic analysis of copy number variants of a large cohort of orofacial cleft patients identifies candidate genes for orofacial clefts
por: Conte, Federica, et al.
Publicado: (2015)

A genome-wide study of de novo deletions identifies a candidate locus for non-syndromic isolated cleft lip/palate risk
por: Younkin, Samuel G, et al.
Publicado: (2014)

Genome-Wide Association Study of Non-syndromic Orofacial Clefts in a Multiethnic Sample of Families and Controls Identifies Novel Regions
por: Mukhopadhyay, Nandita, et al.
Publicado: (2021)

Orofacial Clefts: Genetics of Cleft Lip and Palate
por: Babai, Arwa, et al.
Publicado: (2023)

The PAX1 locus at 20p11 is a potential genetic modifier for bilateral cleft lip
por: Curtis, Sarah W., et al.
Publicado: (2021)

Targeted re-sequencing on 1p22 among non-syndromic orofacial clefts from Han Chinese population
por: Li, Mu-Jia, et al.
Publicado: (2022)

CDH1 Mutation Distribution and Type Suggests Genetic Differences between the Etiology of Orofacial Clefting and Gastric Cancer
por: Selvanathan, Arthavan, et al.
Publicado: (2020)

Identification of paternal uniparental disomy on chromosome 22 and a de novo deletion on chromosome 18 in individuals with orofacial clefts
por: Oseni, Ganiyu O., et al.
Publicado: (2018)

Is Adiponectin Related to Orofacial Clefts?
por: Khazaei, S, et al.
Publicado: (2012)

Etiopathogenesis of orofacial clefting revisited
por: Prabhu, Sudeendra, et al.
Publicado: (2012)

Alterations in DNA Methylation in Orofacial Clefts
por: Charoenvicha, Chirakan, et al.
Publicado: (2022)

The Intersection of the Genetic Architectures of Orofacial Clefts and Normal Facial Variation
por: Indencleef, Karlijne, et al.
Publicado: (2021)

Modifiable Risk Factors of Non-Syndromic Orofacial Clefts: A Systematic Review
por: Inchingolo, Angelo Michele, et al.
Publicado: (2022)

Comprehensive analysis of differentially expressed profiles of non-coding RNAs in peripheral blood and ceRNA regulatory networks in non-syndromic orofacial clefts
por: Gao, Yuwei, et al.
Publicado: (2019)

Incidence patterns of orofacial clefts in purebred dogs
por: Roman, Nicholas, et al.
Publicado: (2019)

Etiological factors commonly related to the need of endodontic treatment in individuals with orofacial clefts
por: Siqueira, Viviane-da Silva, et al.
Publicado: (2021)

Assessment of candidate genes and genetic heterogeneity in human non syndromic orofacial clefts specifically non syndromic cleft lip with or without palate
por: Saleem, Komal, et al.
Publicado: (2019)

Genetics and Management of the Patient with Orofacial Cleft
por: Brito, Luciano Abreu, et al.
Publicado: (2012)

Implementing the Brazilian Database on Orofacial Clefts
por: Monlleó, Isabella Lopes, et al.
Publicado: (2013)

Corticosteroid use and risk of orofacial clefts
por: Skuladottir, Hildur, et al.
Publicado: (2014)

Genetic Factors in Nonsyndromic Orofacial Clefts
por: Khan, Mahamad Irfanulla, et al.
Publicado: (2020)

To Stick or Not to Stick: Adhesions in Orofacial Clefts
por: Antiguas, Angelo, et al.
Publicado: (2022)

Novel IRF6 variant in orofacial cleft patients from Durban, South Africa
por: Naicker, Thirona, et al.
Publicado: (2023)

Chromatin conformation of human oral epithelium can identify orofacial cleft missing functional variants
por: Xiao, Yao, et al.
Publicado: (2022)

Birth prevalence of non-syndromic orofacial clefts in Saudi Arabia and the effects of parental consanguinity
por: Sabbagh, Heba J., et al.
Publicado: (2015)

Cannot write session to /tmp/vufind_sessions/sess_lpl0itdpp41s1t5hcocsuekt0g