Genomes and Genes
Experts and Doctors on cleft lip in Iowa City, Iowa, United States
Locale: Iowa City, Iowa, United States
Topic: cleft lip
- Daack Hirsch S, Gamboa H. Filipino explanatory models of cleft lip with or without cleft palate. Cleft Palate Craniofac J. 2010;47:122-33 pubmed publisher..Findings from this study will be used to guide the design of health campaigns regarding CL+/-P in the Philippines. ..
- Moreno Uribe L, Fomina T, Munger R, Romitti P, Jenkins M, Gjessing H, et al. A Population-Based Study of Effects of Genetic Loci on Orofacial Clefts. J Dent Res. 2017;96:1322-1329 pubmed publisher..Our results provide reliable estimates of the effects of top loci on risks of oral clefts in a population of European descent. ..
- Wehby G, Tyler M, Lindgren S, Romitti P, Robbins J, Damiano P. Oral clefts and behavioral health of young children. Oral Dis. 2012;18:74-84 pubmed publisher..Also, the findings emphasize the need to study the representation of behavioral health professionals on cleft teams and access to behavioral health care. ..
- Nopoulos P, Berg S, Canady J, Richman L, Van Demark D, Andreasen N. Abnormal brain morphology in patients with isolated cleft lip, cleft palate, or both: a preliminary analysis. Cleft Palate Craniofac J. 2000;37:441-6 pubmed..This study highlights the complex interaction and interdependence of craniofacial and cerebral development. ..
- Liu H, Leslie E, Jia Z, Smith T, Eshete M, Butali A, et al. Irf6 directly regulates Klf17 in zebrafish periderm and Klf4 in murine oral epithelium, and dominant-negative KLF4 variants are present in patients with cleft lip and palate. Hum Mol Genet. 2016;25:766-76 pubmed publisher..These results indicate that rare NSCL/P risk variants can be found in members of the gene regulatory network governing periderm differentiation. ..
- Vandermeer J, Carter T, Pangilinan F, Mitchell A, Kurnat Thoma E, Kirke P, et al. Evaluation of proton-coupled folate transporter (SLC46A1) polymorphisms as risk factors for neural tube defects and oral clefts. Am J Med Genet A. 2016;170A:1007-16 pubmed publisher..Nominal associations between SLC46A1 polymorphisms and both Irish NTDs and oral clefts in the Utah population suggest some role in the etiology of these birth defects, but further investigation in other populations is needed. ..
- Jones J, Canady J, Brookes J, Wehby G, L heureux J, Schutte B, et al. Wound complications after cleft repair in children with Van der Woude syndrome. J Craniofac Surg. 2010;21:1350-3 pubmed publisher..67). Our studies suggest that children with VWS have an increased risk for wound complications after cleft repair compared with children with NSCLP. Furthermore, these data support a role for IRF6 in wound healing. ..
- Moon J, Kuehn D, Chan G, Zhao L. Induced velopharyngeal fatigue effects in speakers with repaired palatal clefts. Cleft Palate Craniofac J. 2007;44:251-60 pubmed..To address whether speakers with cleft palate exhibit velopharyngeal mechanism fatigue and are more susceptible to muscle fatigue than are speakers without cleft palate...
- Butali A, Suzuki S, Cooper M, Mansilla A, Cuenco K, Leslie E, et al. 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). Am J Med Genet A. 2013;161A:965-72 pubmed publisher..Determining the role of rare variants clearly warrants further investigation. ..
- Leslie E, Mansilla M, Biggs L, Schuette K, Bullard S, Cooper M, et al. 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. Birth Defects Res A Clin Mol Teratol. 2012;94:934-42 pubmed publisher..This work suggests a novel pathway in which the IRF6 gene regulatory network interacts with the Rho pathway via ARHGAP29. Birth Defects Research (Part A) 2012. © 2012 Wiley Periodicals, Inc. ..
- Rahimov F, Marazita M, Visel A, Cooper M, Hitchler M, Rubini M, et al. Disruption of an AP-2alpha binding site in an IRF6 enhancer is associated with cleft lip. Nat Genet. 2008;40:1341-7 pubmed publisher..Our findings place IRF6 and AP-2alpha in the same developmental pathway and identify a high-frequency variant in a regulatory element contributing substantially to a common, complex disorder. ..
- Moreno L, Mansilla M, Bullard S, Cooper M, Busch T, Machida J, et al. FOXE1 association with both isolated cleft lip with or without cleft palate, and isolated cleft palate. Hum Mol Genet. 2009;18:4879-96 pubmed publisher..These data indicate that FOXE1 is a major gene for CL/P and provides new insights for improved counseling and genetic interaction studies. ..
- Rorick N, Kinoshita A, Weirather J, Peyrard Janvid M, de Lima R, Dunnwald M, et al. Genomic strategy identifies a missense mutation in WD-repeat domain 65 (WDR65) in an individual with Van der Woude syndrome. Am J Med Genet A. 2011;155A:1314-21 pubmed publisher..The expression and mutation data were consistent with the hypothesis that WDR65 was a novel gene involved in oral clefting. ..
- Nidey N, Moreno Uribe L, Marazita M, Wehby G. Psychosocial well-being of parents of children with oral clefts. Child Care Health Dev. 2016;42:42-50 pubmed publisher..Also, parents from less wealthy households may be at greater risk. Parental psychosocial status should be considered in holistic family-based treatment approaches to reduce burden on affected families and improve their well-being. ..
- Barrow L, van Bokhoven H, Daack Hirsch S, Andersen T, van Beersum S, Gorlin R, et al. Analysis of the p63 gene in classical EEC syndrome, related syndromes, and non-syndromic orofacial clefts. J Med Genet. 2002;39:559-66 pubmed..This study supports a common role for p63 in classical EEC syndrome, both familial and sporadic, but not in other related or non-syndromic forms of orofacial clefts. ..
- Zucchero T, Cooper M, Maher B, Daack Hirsch S, Nepomuceno B, Ribeiro L, et al. Interferon regulatory factor 6 (IRF6) gene variants and the risk of isolated cleft lip or palate. N Engl J Med. 2004;351:769-80 pubmed..DNA-sequence variants associated with IRF6 are major contributors to cleft lip, with or without cleft palate. The contribution of variants in single genes to cleft lip or palate is an important consideration in genetic counseling. ..
- Parada Sanchez M, Chu E, Cox L, Undurty S, Standley J, Murray J, et al. Disrupted IRF6-NME1/2 Complexes as a Cause of Cleft Lip/Palate. J Dent Res. 2017;96:1330-1338 pubmed publisher..The data presented suggest an important role for cytoplasmic IRF6 in regulating the availability or localization of the NME1/2 complex and thus the dynamic behavior of epithelia during lip/palate development. ..
- Riley B, Mansilla M, Ma J, Daack Hirsch S, Maher B, Raffensperger L, et al. Impaired FGF signaling contributes to cleft lip and palate. Proc Natl Acad Sci U S A. 2007;104:4512-7 pubmed..The data suggest that the FGF signaling pathway may contribute to as much as 3-5% of NS CLP and will be a consideration in the clinical management of CLP. ..
- Riley B, Schultz R, Cooper M, Goldstein McHenry T, Daack Hirsch S, Lee K, et al. A genome-wide linkage scan for cleft lip and cleft palate identifies a novel locus on 8p11-23. Am J Med Genet A. 2007;143A:846-52 pubmed..Linkage and association analyses of these SNPs yield suggestive results for markers in FGFR1 (recessive multipoint HLOD 1.07) and BAG4 (recessive multipoint HLOD 1.31). ..
- Richman L, Ryan S. Do the reading disabilities of children with cleft fit into current models of developmental dyslexia?. Cleft Palate Craniofac J. 2003;40:154-7 pubmed..The purpose of this study was to determine whether the reading problems of children with cleft fit models of developmental dyslexia...
- Jezewski P, Vieira A, Nishimura C, Ludwig B, Johnson M, O Brien S, et al. Complete sequencing shows a role for MSX1 in non-syndromic cleft lip and palate. J Med Genet. 2003;40:399-407 pubmed
- Felix T, Hanshaw B, Mueller R, Bitoun P, Murray J. CHD7 gene and non-syndromic cleft lip and palate. Am J Med Genet A. 2006;140:2110-4 pubmed..Mutations in CHD7 are not common in isolated clefting cases and we found minimal evidence that CHD7 can act as a modifier for non-syndromic clefting. ..
- Paul B, Palmer K, Sharp J, Pratt C, Murray S, Dunnwald M. ARHGAP29 Mutation Is Associated with Abnormal Oral Epithelial Adhesions. J Dent Res. 2017;96:1298-1305 pubmed publisher..In conclusion, we validate the LoF nature of the human K326X mutation in vivo and reveal a previously unknown effect of Arhgap29 in murine craniofacial development. ..
- Schutte B, Bjork B, Coppage K, Malik M, Gregory S, Scott D, et al. A preliminary gene map for the Van der Woude syndrome critical region derived from 900 kb of genomic sequence at 1q32-q41. Genome Res. 2000;10:81-94 pubmed
- Wehby G, Pedersen D, Murray J, Christensen K. The effects of oral clefts on hospital use throughout the lifespan. BMC Health Serv Res. 2012;12:58 pubmed publisher..The results suggest that individuals with oral clefts have higher hospitalization risks than the general population throughout most of the lifespan. ..
- Kondo S, Schutte B, Richardson R, Bjork B, Knight A, Watanabe Y, et al. Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes. Nat Genet. 2002;32:285-9 pubmed..Our observations demonstrate that haploinsufficiency of IRF6 disrupts orofacial development and are consistent with dominant-negative mutations disturbing development of the skin and genitalia. ..
- Vieira A. Oral clefts and syndromic forms of tooth agenesis as models for genetics of isolated tooth agenesis. J Dent Res. 2003;82:162-5 pubmed..Oral clefts and syndromic forms of tooth agenesis may be the best models for isolated tooth agenesis. In the future, a precise description of the missing teeth in syndromes involving tooth agenesis may be useful. ..
- Vieira A, Avila J, Daack Hirsch S, Dragan E, Felix T, Rahimov F, et al. Medical sequencing of candidate genes for nonsyndromic cleft lip and palate. PLoS Genet. 2005;1:e64 pubmed..This study also illustrates the need to test large numbers of controls to distinguish rare polymorphic variants and prioritize functional studies for rare point mutations. ..
- Nopoulos P, Langbehn D, Canady J, Magnotta V, Richman L. Abnormal brain structure in children with isolated clefts of the lip or palate. Arch Pediatr Adolesc Med. 2007;161:753-8 pubmed
- Peyrard Janvid M, Leslie E, Kousa Y, Smith T, Dunnwald M, Magnusson M, et al. Dominant mutations in GRHL3 cause Van der Woude Syndrome and disrupt oral periderm development. Am J Hum Genet. 2014;94:23-32 pubmed publisher..They supported the hypotheses that both genes are essential for the presence of a functional oral periderm and that failure of this process contributes to VWS. ..
- Leslie E, Mancuso J, Schutte B, Cooper M, Durda K, L heureux J, et al. Search for genetic modifiers of IRF6 and genotype-phenotype correlations in Van der Woude and popliteal pterygium syndromes. Am J Med Genet A. 2013;161A:2535-2544 pubmed publisher..We also show that families with the Van de Woude phenotype but in whom no mutations have been identified have a lower frequency of cleft lip, suggesting there may be locus and/or mutation class differences in Van de Woude syndrome. ..
- Barrow L, Wines M, Romitti P, Holdener B, Murray J. Aryl hydrocarbon receptor nuclear translocator 2 (ARNT2): structure, gene mapping, polymorphisms, and candidate evaluation for human orofacial clefts. Teratology. 2002;66:85-90 pubmed..No association was demonstrated with CPO (n = 45) and CL/P (n = 37). Teratology 66:85-90, 2002. ..
- Riley B, Murray J. Sequence evaluation of FGF and FGFR gene conserved non-coding elements in non-syndromic cleft lip and palate cases. Am J Med Genet A. 2007;143A:3228-34 pubmed..Additionally, 15 NS CLP patients had a combination of coding mutations and CNE variants, suggesting that an accumulation of variants in the FGF signaling pathway may contribute to clefting. ..