A5017383828- Cleft Lip and Palate Research
- Craniofacial Disorders and Treatments
- BRCA gene mutations in cancer
- dental development and anomalies
- Ethics in Clinical Research
- Genomics and Rare Diseases
- Prenatal Screening and Diagnostics
- Folate and B Vitamins Research
- Genomic variations and chromosomal abnormalities
- Congenital Anomalies and Fetal Surgery
- Genetics, Bioinformatics, and Biomedical Research
- Patient-Provider Communication in Healthcare
- Family Support in Illness
- Congenital Ear and Nasal Anomalies
- Nutrition, Genetics, and Disease
- RNA modifications and cancer
- Neurogenetic and Muscular Disorders Research
- Health, Environment, Cognitive Aging
- Health Systems, Economic Evaluations, Quality of Life
- Patient Dignity and Privacy
- Biomedical Ethics and Regulation
- Birth, Development, and Health
- Genetics and Neurodevelopmental Disorders
- Dermatoglyphics and Human Traits
- Dementia and Cognitive Impairment Research
University of Iowa
2014-2025
Oncology Nursing Society
2020
University of Massachusetts Amherst
2020
Koç University
2020
University of Pittsburgh
2020
Istanbul University
2020
Amherst College
2020
University of Oxford
2013
Cleft lip or palate (or the two in combination) is a common birth defect that results from mixture of genetic and environmental factors. We searched for specific factor contributing to this complex trait by examining large numbers affected patients families evaluating candidate gene.We identified gene encodes interferon regulatory 6 (IRF6) as on basis its involvement an autosomal dominant form cleft palate, Van der Woude's syndrome. A single-nucleotide polymorphism either valine isoleucine...
Nonsyndromic cleft lip and palate (NS CLP) is a complex birth defect resulting from combination of genetic environmental factors. Several members the FGF FGFR families are expressed during craniofacial development can rarely harbor mutations that result in human clefting syndromes. We hypothesized disruptions this pathway might also contribute to NS CLP. sequenced coding regions performed association testing on 12 genes ( FGFR1 , FGFR2 FGFR3 FGF2 FGF3 FGF4 FGF7 FGF8 FGF9 FGF10 FGF18 NUDT6 )...
Nonsyndromic or isolated cleft lip with without palate (CL/P) occurs in wide geographic distribution an average birth prevalence of 1/700. We used direct sequencing as approach to study candidate genes for CL/P. report here the results on 20 clefts 184 cases CL/P selected emphasis severity and positive family history. Genes were based expression patterns, animal models, and/or role known human clefting syndromes. For seven identified coding mutations that are potentially etiologic, we...
Previous studies suggest that the relationship between genes and nonsyndromic cleft lip ± palate (CLP) or only (CP) may be modified by environment. Using data from a population-based case-control study, we examined allelic variants for three genes, i.e., transforming growth factor alpha (TGFA), beta 3 (TGFB3), Msh (Drosophila) homeobox homolog 1 (MSX1), their interactions with two exposures during pregnancy (maternal cigarette smoking alcohol consumption) as risk factors CLP CP. For each...
Nonsyndromic orofacial clefts are a common complex birth defect caused by genetic and environmental factors and/or their interactions. A previous genome-wide linkage scan discovered novel locus for cleft lip with or without palate (CL/P) at 9q22–q33. To identify the etiologic gene, we undertook an iterative complementary fine mapping strategy using family-based CL/P samples from Colombia, USA Philippines. Candidate genes within 9q22–q33 were sequenced, revealing 32 new variants....
<i>Objectives:</i> Non-syndromic orofacial clefts, i.e. cleft lip (CL) and palate (CP), are among the most common birth defects. The goal of this study was to identify genomic regions genes for CL with or without CP (CL/P). <i>Methods:</i> We performed linkage analyses a 10 cM genome scan in 820 multiplex CL/P families (6,565 individuals). Significant results were followed by association 1,476 SNPs candidate regions, utilizing weighted false discovery rate (wFDR)...
Clinical and epidemiologic studies of defined geographic populations can serve as a means establishing data important for genetic counseling first step in Identifying strategies best suited Identification causes. Under the sponsorship Operation Smile International, clinical, genetic, were carried out at six sites within Philippines between 1989 1996. Patients who being evaluated surgical repair craniofacial anomalies (primarily clefts lip palate) briefly examined presence associated...
Maternal alcohol use during pregnancy is a known cause of birth defects associated with the fetal syndrome, but its role in more common, isolated, craniofacial not well understood. A population-based, case-control study orofacial clefts was conducted Iowa using births 1987-1991. Cases were identified by Birth Defects Registry and classified as having cleft lip or without palate (CLP) only (CP) whether isolated occurred other defects. Controls selected from normal births. according to...
Background Facial clefts are common birth defects with a strong genetic component. To identify fetal risk factors for clefting, 1536 SNPs in 357 candidate genes were genotyped two population-based samples from Scandinavia (Norway: 562 case-parent and 592 control-parent triads; Denmark: 235 triads). Methodology/Principal Findings We used complementary statistical methods, TRIMM HAPLIN, to look associations across these national samples. tests association each gene by using multi-SNP genotypes...
The potential for genomic incidental findings is increasing with the use of genome-based testing. At same time approaches to clinical decision making are shifting shared decision-making models involving both healthcare community and public. public's voice has been nearly absent in discussions on managing findings. We conducted nine focus groups interviews (n = 63) a broad cross-section lay public elucidate viewpoints that could occur as result testing research situations. Data were analyzed...
Poliovirus Receptor Like-1 (PVRL1) is a member of the immunoglobulin super family that acts in initiation and maintenance epithelial adherens junctions mutated cleft lip palate/ectodermal dysplasia 1 syndrome (CLPED1, OMIM #225000). In addition, common non-sense mutation PVRL1 was discovered more often among non-syndromic sporadic clefting cases Northern Venezuela previous case-control study. The present work sought to ascertain role forms orofacial multiple populations. Multiple rare...
Vitamin deficiencies induce oral clefts in animal experiments, but the role of specific nutrients human is uncertain.Associations between maternal vitamin B-6 and folate status risk nonsyndromic cleft lip, with or without palate (CL/P), were examined case-control studies at two sites Philippines--Negros Occidental Davao. Cases mothers affected children control those who had no clefts.The having a CL/P-affected child increased increasing tertile deficiency both Negros Davao (odds ratios [ORs]...
We revisited 46 families with two or more siblings affected an orofacial cleft that participated in previous genome wide studies and collected complete dental information. Genotypes from 392 microsatellite markers at 10 cM intervals were reanalyzed. carried out four sets of analyses. First, we ran the analysis solely on status. Second, assigned to any anomaly (tooth agenesis, supernumerary teeth, microdontia) affection status, repeated analysis. Third, only 19 where proband had a no...
Previous evidence from tooth agenesis studies suggested IRF6 and TGFA interact. Since is commonly found in individuals with cleft lip/palate (CL/P), we used four large cohorts to evaluate if interaction contributes CL/P. Markers within flanking genes were tested using Taqman or SYBR green chemistries for case-control analyses 1,000 Brazilian individuals. We looked of gene-gene between by testing markers associated CL/P overtransmitted together the dataset additional family datasets....
Abstract Cleft lip with or without cleft palate (CL/P) is a congenital anomaly variable birth prevalence based on geographic origins, the highest rates commonly found in Asian populations. About 70% of cases are nonsyndromic (NS), which affected individual has no other abnormalities. NS CL/P complex disorder genetic and environmental effects specific loci yet confirmed. Fifteen candidate regions were examined for linkage to CL/P. Regions chosen previous suggestive and/or association human...