cleft palate

Summary

Summary: Congenital fissure of the soft and/or hard palate, due to faulty fusion.

Top Publications

  1. pmc Cleft lip and palate: understanding genetic and environmental influences
    Michael J Dixon
    Faculty of Medical and Human Sciences, Manchester Academic Health Sciences Centre, Michael Smith Building, University of Manchester, Oxford Road, Manchester M13 9PT, UK
    Nat Rev Genet 12:167-78. 2011
  2. pmc Transforming growth factor-beta 3 is required for secondary palate fusion
    G Proetzel
    Department of Molecular Genetics, Biochemistry and Microbiology, University of Cincinnati College of Medicine, Ohio 45267, USA
    Nat Genet 11:409-14. 1995
  3. ncbi Rescue of cleft palate in Msx1-deficient mice by transgenic Bmp4 reveals a network of BMP and Shh signaling in the regulation of mammalian palatogenesis
    Zunyi Zhang
    Department of Cell and Molecular Biology and Center for Bioenvironmental Research, Tulane University, New Orleans, LA 70118, USA
    Development 129:4135-46. 2002
  4. ncbi Cleft lip and palate
    Peter A Mossey
    Department of Dental and Oral Health, University of Dundee, Dental Hospital and School, Dundee, UK
    Lancet 374:1773-85. 2009
  5. pmc A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4
    Terri H Beaty
    Johns Hopkins University, School of Public Health, Baltimore, Maryland, USA
    Nat Genet 42:525-9. 2010
  6. ncbi Molecular control of secondary palate development
    Amel Gritli-Linde
    Department of Oral Biochemistry, Sahlgrenska Academy at Goteborg University, Medicinaregatan 12F, Goteborg, Sweden
    Dev Biol 301:309-26. 2007
  7. ncbi Gene/environment causes of cleft lip and/or palate
    J C Murray
    Department of Pediatrics, University of Iowa, Iowa City 52242, USA
    Clin Genet 61:248-56. 2002
  8. ncbi Abnormal lung development and cleft palate in mice lacking TGF-beta 3 indicates defects of epithelial-mesenchymal interaction
    V Kaartinen
    Department of Pathology, Childrens Hospital of Los Angeles Research Institute, California 90027, USA
    Nat Genet 11:415-21. 1995
  9. pmc Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci
    Kerstin U Ludwig
    Institute of Human Genetics, University of Bonn, Germany
    Nat Genet 44:968-71. 2012
  10. pmc Mutant p63 causes defective expansion of ectodermal progenitor cells and impaired FGF signalling in AEC syndrome
    Giustina Ferone
    Fondazione IRCCS SDN, Napoli, Italy
    EMBO Mol Med 4:192-205. 2012

Detail Information

Publications306 found, 100 shown here

  1. pmc Cleft lip and palate: understanding genetic and environmental influences
    Michael J Dixon
    Faculty of Medical and Human Sciences, Manchester Academic Health Sciences Centre, Michael Smith Building, University of Manchester, Oxford Road, Manchester M13 9PT, UK
    Nat Rev Genet 12:167-78. 2011
    ..These findings have advanced our understanding of developmental biology and created new opportunities for clinical translational research...
  2. pmc Transforming growth factor-beta 3 is required for secondary palate fusion
    G Proetzel
    Department of Molecular Genetics, Biochemistry and Microbiology, University of Cincinnati College of Medicine, Ohio 45267, USA
    Nat Genet 11:409-14. 1995
    Mice lacking TGF-beta 3 exhibit an incompletely penetrant failure of the palatal shelves to fuse leading to cleft palate. The defect appears to result from impaired adhesion of the apposing medial edge epithelia of the palatal shelves and ..
  3. ncbi Rescue of cleft palate in Msx1-deficient mice by transgenic Bmp4 reveals a network of BMP and Shh signaling in the regulation of mammalian palatogenesis
    Zunyi Zhang
    Department of Cell and Molecular Biology and Center for Bioenvironmental Research, Tulane University, New Orleans, LA 70118, USA
    Development 129:4135-46. 2002
    b>Cleft palate, the most frequent congenital craniofacial birth defects in humans, arises from genetic or environmental perturbations in the multi-step process of palate development...
  4. ncbi Cleft lip and palate
    Peter A Mossey
    Department of Dental and Oral Health, University of Dundee, Dental Hospital and School, Dundee, UK
    Lancet 374:1773-85. 2009
    Clefts of the lip and palate are generally divided into two groups, isolated cleft palate and cleft lip with or without cleft palate, representing a heterogeneous group of disorders affecting the lips and oral cavity...
  5. pmc A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4
    Terri H Beaty
    Johns Hopkins University, School of Public Health, Baltimore, Maryland, USA
    Nat Genet 42:525-9. 2010
    Case-parent trios were used in a genome-wide association study of cleft lip with and without cleft palate. SNPs near two genes not previously associated with cleft lip with and without cleft palate (MAFB, most significant SNP rs13041247, ..
  6. ncbi Molecular control of secondary palate development
    Amel Gritli-Linde
    Department of Oral Biochemistry, Sahlgrenska Academy at Goteborg University, Medicinaregatan 12F, Goteborg, Sweden
    Dev Biol 301:309-26. 2007
    ..rigorous molecular regulation of palatogenesis is reflected when loss of function of a single protein generates cleft palate, a frequent malformation with a complex etiology...
  7. ncbi Gene/environment causes of cleft lip and/or palate
    J C Murray
    Department of Pediatrics, University of Iowa, Iowa City 52242, USA
    Clin Genet 61:248-56. 2002
    ..An overview of the gene-environment contributions to nonsyndromic forms of clefting and their implications for developmental biology and clinical counseling is presented...
  8. ncbi Abnormal lung development and cleft palate in mice lacking TGF-beta 3 indicates defects of epithelial-mesenchymal interaction
    V Kaartinen
    Department of Pathology, Childrens Hospital of Los Angeles Research Institute, California 90027, USA
    Nat Genet 11:415-21. 1995
    ..Unlike other null mutants with cleft palate, TGF-beta 3-/- mice lack other concomitant craniofacial abnormalities...
  9. pmc Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci
    Kerstin U Ludwig
    Institute of Human Genetics, University of Bonn, Germany
    Nat Genet 44:968-71. 2012
    We have conducted the first meta-analyses for nonsyndromic cleft lip with or without cleft palate (NSCL/P) using data from the two largest genome-wide association studies published to date...
  10. pmc Mutant p63 causes defective expansion of ectodermal progenitor cells and impaired FGF signalling in AEC syndrome
    Giustina Ferone
    Fondazione IRCCS SDN, Napoli, Italy
    EMBO Mol Med 4:192-205. 2012
    Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome, which is characterized by cleft palate and severe defects of the skin, is an autosomal dominant disorder caused by mutations in the gene encoding transcription factor p63...
  11. ncbi The cellular and molecular etiology of the cleft secondary palate in Fgf10 mutant mice
    Sylvia R Alappat
    Division of Developmental Biology, Department of Cell and Molecular Biology, Tulane University, New Orleans, LA 70118, USA
    Dev Biol 277:102-13. 2005
    ..5, which could prevent normal elevation of the palatal shelves leading to a cleft palate. TUNEL and BrdU assays demonstrated significant levels of apoptosis in the medial edge epithelium (MEE) but ..
  12. ncbi Genome-wide association study identifies two susceptibility loci for nonsyndromic cleft lip with or without cleft palate
    Elisabeth Mangold
    Institute of Human Genetics, Life and Brain Center, University of Bonn, Bonn, Germany
    Nat Genet 42:24-6. 2010
    We conducted a genome-wide association study for nonsyndromic cleft lip with or without cleft palate (NSCL/P) in 401 affected individuals and 1,323 controls, with replication in an independent sample of 793 NSCL/P triads...
  13. pmc Disruption of Fgf10/Fgfr2b-coordinated epithelial-mesenchymal interactions causes cleft palate
    Ritva Rice
    Departments of Craniofacial Development and Orthodontics, King s College, London, United Kingdom
    J Clin Invest 113:1692-700. 2004
    ..Using Fgf10-/-, FGF receptor 2b-/- (Fgfr2b-/-), and Sonic hedgehog (Shh) mutant mice, which all exhibit cleft palate, we show that Shh is a downstream target of Fgf10/Fgfr2b signaling...
  14. pmc Association of MSX1 and TGFB3 with nonsyndromic clefting in humans
    A C Lidral
    Department of Orthodontics, Ohio State University, Columbus, USA
    Am J Hum Genet 63:557-68. 1998
    Nonsyndromic cleft lip with or without cleft palate (CL/P) and nonsyndromic cleft palate only (CPO) are common congenital anomalies with significant medical, psychological, social, and economic ramifications...
  15. ncbi Humanitarian missions in the third world: a polite dissent
    Christian C Dupuis
    Plast Reconstr Surg 113:433-5. 2004
  16. ncbi Interferon regulatory factor 6 (IRF6) gene variants and the risk of isolated cleft lip or palate
    Theresa M Zucchero
    University of Iowa, Iowa City 52242, USA
    N Engl J Med 351:769-80. 2004
    ..We searched for a specific genetic factor contributing to this complex trait by examining large numbers of affected patients and families and evaluating a specific candidate gene...
  17. ncbi Msx1 deficient mice exhibit cleft palate and abnormalities of craniofacial and tooth development
    I Satokata
    Department of Medicine, Brigham and Women s Hospital, Boston, Massachusetts 02115
    Nat Genet 6:348-56. 1994
    ..The Msx1-/Msx1- phenotype is similar to human cleft palate, and provides a genetic model for cleft palate and oligodontia in which the defective gene is known.
  18. ncbi Recent advances in craniofacial morphogenesis
    Yang Chai
    Center for Craniofacial Molecular Biology, School of Dentistry, University of Southern California, Los Angeles, California 90033, USA
    Dev Dyn 235:2353-75. 2006
    ..Together, these findings will be beneficial for the understanding, treatment, and prevention of human congenital malformations and establish the foundation for craniofacial tissue regeneration...
  19. ncbi Conditional inactivation of Tgfbr2 in cranial neural crest causes cleft palate and calvaria defects
    Yoshihiro Ito
    Center for Craniofacial Molecular Biology, School of Dentistry, University of Southern California, 2250 Alcazar Street, CSA 103, Los Angeles, CA 90033, USA
    Development 130:5269-80. 2003
    b>Cleft palate and skull malformations represent some of the most frequent congenital birth defects in the human population...
  20. pmc Evidence of gene-environment interaction for the IRF6 gene and maternal multivitamin supplementation in controlling the risk of cleft lip with/without cleft palate
    Tao Wu
    Johns Hopkins Bloomberg School of Public Health, Baltimore, MD 21205, USA
    Hum Genet 128:401-10. 2010
    ..multiple genes have been identified as genetic risk factors for isolated, non-syndromic cleft lip with/without cleft palate (CL/P), a complex and heterogeneous birth defect, interferon regulatory factor 6 gene (IRF6) is one of the best ..
  21. pmc Palatogenesis: morphogenetic and molecular mechanisms of secondary palate development
    Jeffrey O Bush
    Department of Cell and Tissue Biology and Program in Craniofacial and Mesenchymal Biology, University of California at San Francisco, San Francisco, CA 94143, USA
    Development 139:231-43. 2012
    ..The complexity of control of palatogenesis is reflected by the common occurrence of cleft palate in humans...
  22. pmc Association between IRF6 and nonsyndromic cleft lip with or without cleft palate in four populations
    Ji Wan Park
    Department of Epidemiology, Bloomberg School of Public Health, Johns Hopkins University, Baltimore, Maryland 21205, USA, and Department of Medical Research and Craniofacial Center, Chang Gung Memorial Hospital, Taoyuan, Taiwan
    Genet Med 9:219-27. 2007
    ..This study aimed to confirm the contribution of IRF6 to cleft lip with or without palate risk in additional Asian populations...
  23. pmc Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients
    Hanna T Gazda
    Division of Genetics and Program in Genomics, The Manton Center for Orphan Disease Research, Children s Hospital Boston, Boston, MA 02115, USA
    Am J Hum Genet 83:769-80. 2008
    ....
  24. ncbi Variants of developmental genes (TGFA, TGFB3, and MSX1) and their associations with orofacial clefts: a case-parent triad analysis
    Astanand Jugessur
    Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway
    Genet Epidemiol 24:230-9. 2003
    ..One hundred seventy-four triads of cleft lip cases (CL+/-P) and 88 triads of cleft palate only cases (CPO) were analyzed. There was little evidence for an association of any of these genes with CL+/-P...
  25. pmc A cohort study of recurrence patterns among more than 54,000 relatives of oral cleft cases in Denmark: support for the multifactorial threshold model of inheritance
    Dorthe Grosen
    Research Centre for the prevention of Infant Mortality and Congenital Illnesses, Institute of Public Health, University of Southern Denmark, JB Winsløws Vej 9, DK 5000 Odense, Denmark
    J Med Genet 47:162-8. 2010
    ..To determine if the anatomical severity of oral clefting affects familial recurrence in a large population based sample. To provide reliable recurrence risk estimates for oral cleft for first, second, and third degree relatives...
  26. ncbi IRF6 gene variants in Central European patients with non-syndromic cleft lip with or without cleft palate
    Stefanie Birnbaum
    Institute of Human Genetics, University of Bonn, Bonn, Germany
    Eur J Oral Sci 117:766-9. 2009
    ..regulatory factor 6 (IRF6) gene have repeatedly been associated with non-syndromic cleft lip with or without cleft palate (NSCL/P)...
  27. ncbi Pathogenesis of cleft palate in TGF-beta3 knockout mice
    Y Taya
    Division of Cells, Immunology and Development, School of Biological Sciences, The University of Manchester, Oxford Road, Manchester M13 9PT, UK
    Development 126:3869-79. 1999
    We previously reported that mutation of the transforming growth factor-beta3 (TGF-beta3) gene caused cleft palate in homozygous null (-/-) mice...
  28. ncbi Key susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24
    Stefanie Birnbaum
    Institute of Human Genetics, University of Bonn, Bonn, Germany
    Nat Genet 41:473-7. 2009
    ..controls of Central European origin to identify susceptibility loci for nonsyndromic cleft lip with or without cleft palate (NSCL/P). A 640-kb region at chromosome 8q24...
  29. pmc Cleft palate: players, pathways, and pursuits
    Jeffrey C Murray
    Department of Pediatrics and Craniofacial Anomalies Research Center, University of Iowa, Iowa City, Iowa 52242, USA
    J Clin Invest 113:1676-8. 2004
    ..Related work has provided further support for investigating the role of common environmental triggers as causal covariates...
  30. pmc Orofacial clefting: recent insights into a complex trait
    Astanand Jugessur
    Department of Paediatrics, University of Iowa, Iowa City, IA 52242, USA
    Curr Opin Genet Dev 15:270-8. 2005
    ..Together, these complementary strategies are providing researchers with new clues as to what mechanisms underlie orofacial clefting...
  31. ncbi MSX1 and TGFB3 contribute to clefting in South America
    A R Vieira
    Departments of Pediatrics, 2613 JCP, University of Iowa, Iowa City, 52242 1083, USA
    J Dent Res 82:289-92. 2003
    ..With transmission disequilibrium test analysis, cleft lip with/without cleft palate, cleft lip with palate plus cleft palate only, and all datasets combined showed evidence of association with ..
  32. pmc Defects in limb, craniofacial, and thymic development in Jagged2 mutant mice
    R Jiang
    The Jackson Laboratory, Bar Harbor, Maine 04609 USA
    Genes Dev 12:1046-57. 1998
    ..The mutant homozygotes exhibit cleft palate and fusion of the tongue with the palatal shelves...
  33. ncbi A genome-wide association study identifies a locus for nonsyndromic cleft lip with or without cleft palate on 8q24
    Struan F A Grant
    Center for Applied Genomics, Abramson Research Center, The Children s Hospital of Philadelphia, Philadelphia, PA 19104 4318, USA
    J Pediatr 155:909-13. 2009
    To identify, in a non-hypothesis manner, novel genetic factors associated with nonsyndromic cleft lip with or without cleft palate (NSCL/P).
  34. pmc Folic acid and orofacial clefts: a review of the evidence
    G L Wehby
    Department of Health Management and Policy, College of Public Health, University of Iowa, Iowa City, IA 52242, USA
    Oral Dis 16:11-9. 2010
    ..The role of folic acid in the prevention of neural tube defects is also briefly summarized and discussed as a reference model for orofacial clefts...
  35. pmc Mutations in BMP4 are associated with subepithelial, microform, and overt cleft lip
    Satoshi Suzuki
    Division of Research and Treatment for Oral and Maxillofacial Congenital Anomalies, School of Dentistry, Aichi Gakuin University, Chikusa ku, Nagoya, Japan
    Am J Hum Genet 84:406-11. 2009
    Cleft lip with or without cleft palate (CL/P) is a complex trait with evidence that the clinical spectrum includes both microform and subepithelial lip defects...
  36. pmc Massively parallel sequencing of exons on the X chromosome identifies RBM10 as the gene that causes a syndromic form of cleft palate
    Jennifer J Johnston
    National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892 4472, USA
    Am J Hum Genet 86:743-8. 2010
    Micrognathia, glossoptosis, and cleft palate comprise one of the most common malformation sequences, Robin sequence...
  37. pmc Testing reported associations of genetic risk factors for oral clefts in a large Irish study population
    Tonia C Carter
    Division of Epidemiology, Statistics, and Prevention Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Department of Health and Human Services, Bethesda, Maryland, USA
    Birth Defects Res A Clin Mol Teratol 88:84-93. 2010
    ....
  38. ncbi PAX9 and TGFB3 are linked to susceptibility to nonsyndromic cleft lip with or without cleft palate in the Japanese: population-based and family-based candidate gene analyses
    Eisaburo Ichikawa
    Department of Oral and Maxillofacial Surgery, Tokyo Dental College, Chiba, Japan
    J Hum Genet 51:38-46. 2006
    The prevalence of nonsyndromic cleft lip with or without cleft palate (CL/P) and cleft palate only (CPO) are believed to be higher in the Japanese than in Americans, Europeans or Africans...
  39. ncbi Association between the transforming growth factor alpha gene and nonsyndromic oral clefts: a HuGE review
    Alexandre R Vieira
    Department of Oral Medicine and Pathology, School of Dental Medicine, University of Pittsburgh, 3501 Terrace Street, Pittsburgh, PA 15261, USA
    Am J Epidemiol 163:790-810. 2006
    ..In the aggregate, TGFA is probably a genetic modifier of clefting in humans, which is consistent with the oligogenic model suggested for nonsyndromic oral clefts...
  40. ncbi Genetic analysis of candidate loci in non-syndromic cleft lip families from Antioquia-Colombia and Ohio
    Lina M Moreno
    Dows Institute for Dental Research, University of Iowa, Iowa City, Iowa 52242, USA
    Am J Med Genet A 125:135-44. 2004
    Non-syndromic cleft lip with or without cleft palate (CL/P) is a genetically complex birth defect, with a prevalence from 1/500 to 1/1,000 live births...
  41. pmc Modulation of BMP signaling by Noggin is required for the maintenance of palatal epithelial integrity during palatogenesis
    Fenglei He
    Department of Cell and Molecular Biology, Tulane University, New Orleans, LA 70118, USA
    Dev Biol 347:109-21. 2010
    ..Loss of BMP signaling leads to cleft palate formation...
  42. pmc Mutations in PHF8 are associated with X linked mental retardation and cleft lip/cleft palate
    F Laumonnier
    J Med Genet 42:780-6. 2005
    ..Further studies will explore the specific mechanisms whereby PHF8 alterations lead to mental retardation and midline defects...
  43. pmc Prdm16 is required for normal palatogenesis in mice
    Bryan C Bjork
    Genetics Division, Brigham and Women s Hospital, Harvard Medical School, New Research Building, Boston, MA 02115, USA
    Hum Mol Genet 19:774-89. 2010
    ..We describe the cleft secondary palate 1 (csp1) N-ethyl-N-nitrosourea-induced mouse model of non-syndromic cleft palate (NSCP) that is caused by an intronic Prdm16 splicing mutation...
  44. ncbi Urban-rural residence and the occurrence of cleft lip and cleft palate in Texas, 1999-2003
    Lynne C Messer
    Center for Health Policy, Duke Global Health Institute, Durham, NC 27705, USA
    Ann Epidemiol 20:32-9. 2010
    The etiology of orofacial clefts is complex and relatively unknown. Variation in cleft lip with or without palate (CLP) and cleft palate alone (CP) was examined in Texas across urban-rural residence (1999 to 2003).
  45. pmc VAX1 mutation associated with microphthalmia, corpus callosum agenesis, and orofacial clefting: the first description of a VAX1 phenotype in humans
    Anne M Slavotinek
    Department of Pediatrics, Division of Genetics, University of California, San Francisco, California 94143 0748, USA
    Hum Mutat 33:364-8. 2012
    ..We did not identify any mutations in VAX2. This is the first description of a phenotype associated with a VAX1 mutation in humans and establishes VAX1 as a new causative gene for A/M...
  46. ncbi Mutations in AEC syndrome skin reveal a role for p63 in basement membrane adhesion, skin barrier integrity and hair follicle biology
    S E Clements
    St John s Institute of Dermatology, King s College London Guy s Campus, London SE1 9RT, UK
    Br J Dermatol 167:134-44. 2012
    ..Clinically, the skin is dry and often fragile; other features can include partial eyelid fusion (ankyloblepharon), hypodontia, orofacial clefting, sparse hair or alopecia, and nail dystrophy...
  47. ncbi Hedgehog signalling in development of the secondary palate
    Martyn T Cobourne
    Department of Craniofacial Development, King s College London Dental Institute, London, UK
    Front Oral Biol 16:52-9. 2012
    ..Specifically, acting as an inhibitor within a reaction-diffusion mechanism that is responsible for establishing primary architecture of the rugae...
  48. pmc Vax1, a novel homeobox-containing gene, directs development of the basal forebrain and visual system
    M Hallonet
    Department of Developmental Biochemistry, University of Gottingen, Institute for Biochemistry, 37073 Gottingen, Germany
    Genes Dev 13:3106-14. 1999
    ..On the basis of these results, we propose a model for a molecular cascade involved in the establishment of structures of the visual system...
  49. ncbi The genetic basis of craniofacial and dental abnormalities
    Thaleia Kouskoura
    University of Zurich, Institute of Oral Biology, Zurich, Switzerland
    Schweiz Monatsschr Zahnmed 121:636-46. 2011
    ..The development of novel clinical therapies for orofacial and dental pathological conditions depends very much on a detailed knowledge of the molecular and cellular processes that are involved in head formation...
  50. pmc Cleft palate, retrognathia and congenital heart disease in velo-cardio-facial syndrome: a phenotype correlation study
    Marcia A Friedman
    Velo Cardio Facial Syndrome International Center, Department of Otolaryngology and Communication Sciences, SUNY Upstate Medical University, 725 Irving Avenue, Suite 406, Syracuse, NY 13210, United States
    Int J Pediatr Otorhinolaryngol 75:1167-72. 2011
    ..Two of the most common phenotypic categories, congenital heart disease and cleft palate, have been proposed to have a common genetic relationship to the deleted T-box 1 gene (TBX1)...
  51. ncbi Multiple functions of Snail family genes during palate development in mice
    Stephen A Murray
    The Jackson Laboratory, Bar Harbor, ME 04609, USA
    Development 134:1789-97. 2007
    ..Defects in any of these processes can result in cleft palate, a common human birth defect...
  52. pmc Evidence that TGFA influences risk to cleft lip with/without cleft palate through unconventional genetic mechanisms
    Jae Woong Sull
    Department of Epidemiology and Health Promotion, Institute for Health Promotion, Graduate School of Public Health, Yonsei University, Seoul, Korea
    Hum Genet 126:385-94. 2009
    ..Thus, TGFA appears to influence risk of CL/P through unconventional means with an apparent parent-of-origin effect (excess maternal transmission) and possible interaction with maternal exposures...
  53. pmc Evidence for gene-environment interaction in a genome wide study of nonsyndromic cleft palate
    Terri H Beaty
    School of Public Health, Johns Hopkins University, 615 N Wolfe St, Baltimore, Maryland, USA
    Genet Epidemiol 35:469-78. 2011
    Nonsyndromic cleft palate (CP) is a common birth defect with a complex and heterogeneous etiology involving both genetic and environmental risk factors...
  54. ncbi Cleft palate repair: art and issues
    A Michael Sadove
    Division of Plastic Surgery, Indiana University Medical Center, James Whitcomb Riley Hospital for Children, Riley Hospital 2514, 702 Barnhill Drive, Indianapolis, IN 46202 5200, USA
    Clin Plast Surg 31:231-41. 2004
    Caring for the child with cleft palate requires a multidisciplinary approach that begins with evaluation for other possible congenital anomalies, decisions about timing of repair, and choice of techniques...
  55. ncbi Birth prevalence of cleft lip and palate in Northern Ireland (1981 to 2000)
    T A Gregg
    Royal Belfast Hospital for Sick Children, 180 Falls Road, Belfast, Ireland
    Cleft Palate Craniofac J 45:141-7. 2008
    ..This study was undertaken to update the prevalence of CL/P in NI for the 20-year period 1981 to 2000, to determine the pattern of prevalence, and to report the proportion of different cleft types and sex distribution...
  56. ncbi Unraveling human cleft lip and palate research
    A R Vieira
    Departments of Oral Biology and Pediatric Dentistry, School of Dental Medicine, University of Pittsburgh, PA 15261, USA
    J Dent Res 87:119-25. 2008
    ..The latest approaches in cleft research include the analysis of several additional phenotypical features of the population, with the goal of increasing the statistical power of genetics studies...
  57. ncbi Human cleft lip and palate fibroblasts and normal nicotine-treated fibroblasts show altered in vitro expressions of genes related to molecular signaling pathways and extracellular matrix metabolism
    Tiziano Baroni
    Department of Experimental Medicine and Biochemical Sciences, University of Perugia, Via del Giochetto, 06100 Perugia, Italy
    J Cell Physiol 222:748-56. 2010
    Nonsyndromic cleft lip with or without cleft palate (CLP) is a frequent craniofacial malformation caused by both genetic and environmental factors...
  58. ncbi A mouse model for hereditary thyroid dysgenesis and cleft palate
    M De Felice
    Stazione Zoologica Anton Dohrn, Napoli, Italy
    Nat Genet 19:395-8. 1998
    ..Here we show that Titf2-null mutant mice exhibit cleft palate and either a sublingual or completely absent thyroid gland...
  59. ncbi Epidemiological studies on the frequency of clefts in Europe and world-wide
    Karsten K H Gundlach
    Rostock Interdisciplinary Center for Clefts of Lip, Alveolus and Palate and Craniofacial Anomalies, Rostock, University, Germany
    J Craniomaxillofac Surg 34:1-2. 2006
    ..Most textbooks present data on the various frequencies of clefts in different human "races". This was studied in more detail...
  60. pmc Fibroblast growth factor 9 (FGF9)-pituitary homeobox 2 (PITX2) pathway mediates transforming growth factor β (TGFβ) signaling to regulate cell proliferation in palatal mesenchyme during mouse palatogenesis
    Jun ichi Iwata
    Center for Craniofacial Molecular Biology, Ostrow School of Dentistry, University of Southern California, Los Angeles, California 90033, USA
    J Biol Chem 287:2353-63. 2012
    b>Cleft palate represents one of the most common congenital birth defects...
  61. ncbi A specific requirement for PDGF-C in palate formation and PDGFR-alpha signaling
    Hao Ding
    Samuel Lunenfeld Research Institute, Mount Sinai Hospital, Toronto, Canada
    Nat Genet 36:1111-6. 2004
    ..Our results also show that PDGF-C signaling is a new pathway in palatogenesis, different from, and independent of, those previously implicated...
  62. ncbi Epidermal growth factor receptor function is necessary for normal craniofacial development and palate closure
    P J Miettinen
    Department of Growth and Development, University of California, San Francisco 94143 0452, USA
    Nat Genet 22:69-73. 1999
    Craniofacial malformations are among the most frequent congenital birth defects in humans; cleft palate, that is inadequate fusion of the palatal shelves, occurs with an annual incidence of 1 in 700 to 1 in 1,000 live births among ..
  63. pmc Progress toward discerning the genetics of cleft lip
    Andrew C Lidral
    Department of Orthodontics, University of Iowa, Iowa City, Iowa 52242, USA
    Curr Opin Pediatr 17:731-9. 2005
    ..isolated defects, which can be separated into two different phenotypes: (1) cleft lip with or without cleft palate and (2) cleft palate only...
  64. pmc FOXE1 association with both isolated cleft lip with or without cleft palate, and isolated cleft palate
    Lina M Moreno
    Department of Orthodontics, College of Dentistry, University of Iowa, Iowa City, IA 52242, USA
    Hum Mol Genet 18:4879-96. 2009
    ..A previous genome-wide linkage scan discovered a novel locus for cleft lip with or without cleft palate (CL/P) at 9q22-q33...
  65. ncbi Odd-skipped related 2 (Osr2) encodes a key intrinsic regulator of secondary palate growth and morphogenesis
    Yu Lan
    Center for Oral Biology and Department of Biomedical Genetics, Aab Institute of Biomedical Sciences, University of Rochester School of Medicine and Dentistry, Rochester, NY 14642, USA
    Development 131:3207-16. 2004
    ..processes that are frequently disturbed during human development, resulting in the common birth defect of cleft palate. Neither the molecular processes governing normal palatogenesis nor the causes of cleft palate is well ..
  66. ncbi A case-control study of nonsyndromic oral clefts in Maryland
    T H Beaty
    The Johns Hopkins University, Baltimore, MD, USA
    Ann Epidemiol 11:434-42. 2001
    ..between 1992 to 1998 with an isolated, nonsyndromic oral cleft [cleft lip (CL), cleft lip and palate (CLP), or cleft palate (CP)] were recruited and exposure plus family history data were collected. Controls were unaffected infants...
  67. ncbi Biological mechanisms in palatogenesis and cleft palate
    L Meng
    Department of Orthodontics and Oral Biology, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB Nijmegen, The Netherlands
    J Dent Res 88:22-33. 2009
    ..Other factors may interact with these signaling pathways and contribute to clefting. Normalization of the biological mechanisms regulating palatogenesis in susceptible fetuses is expected to contribute to cleft prevention...
  68. pmc Regional regulation of palatal growth and patterning along the anterior-posterior axis in mice
    Sylvia A Hilliard
    Division of Developmental Biology, Department of Cell and Molecular Biology, and Center for Bioenvironmental Research, Tulane University, New Orleans 70118, USA
    J Anat 207:655-67. 2005
    b>Cleft palate is a congenital disorder arising from a failure in the multistep process of palate development. In its mildest form the cleft affects only the posterior soft palate...
  69. pmc Genetic determinants of facial clefting: analysis of 357 candidate genes using two national cleft studies from Scandinavia
    Astanand Jugessur
    Craniofacial Development, Musculoskeletal Disorders, Murdoch Childrens Research Institute, Royal Children s Hospital, Parkville, Australia
    PLoS ONE 4:e5385. 2009
    ....
  70. pmc Significant association between IRF6 820G->A and non-syndromic cleft lip with or without cleft palate in the Thai population
    C Srichomthong
    Division of Medical Genetics and Metabolism, Department of Paediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand
    J Med Genet 42:e46. 2005
    Previous data have shown an association between DNA sequence variants in the IRF6 gene and an increased risk of non-syndromic cleft lip with or without cleft palate (CL/P) in some populations.
  71. pmc 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
    Renata L L Ferreira de Lima
    Serviço de Aconselhamento Genético, UNESP, Botucatu, Sao Paulo, Brazil
    Genet Med 11:241-7. 2009
    ....
  72. pmc The impact of orofacial clefts on quality of life and healthcare use and costs
    G L Wehby
    Department of Health Management and Policy, College of Public Health, University of Iowa, Iowa City, IA, USA
    Oral Dis 16:3-10. 2010
    ..A summary of the primary limitations of the studies in this area is presented, along with recommendations and directions for future research...
  73. ncbi Targeted scan of fifteen regions for nonsyndromic cleft lip and palate in Filipino families
    R E Schultz
    Department of Pediatrics, University of Iowa, Iowa City, Iowa 52242, USA
    Am J Med Genet A 125:17-22. 2004
    Cleft lip with or without cleft palate (CL/P) is a congenital anomaly with variable birth prevalence based on geographic origins, with the highest rates commonly found in Asian populations...
  74. pmc Orofacial clefts in the National Birth Defects Prevention Study, 1997-2004
    Alicia E Genisca
    Centers for Disease Control and Prevention, Atlanta, Georgia 30333, USA
    Am J Med Genet A 149:1149-58. 2009
    ..Included in the study were infants born during 1997-2004 with a cleft lip (CL), cleft lip with cleft palate (CLP), or cleft palate (CP)...
  75. ncbi Association between MSX1 variants and oral clefts in Han Chinese in western China
    Yong qing Huang
    Department of Stomatology, Ningxia Medical University Affiliated Hospital, Ningxia Province, Yinchuan, P R China
    DNA Cell Biol 30:1057-61. 2011
    ..No significant association was found between NSOC and rs3821949 or rs12532 in MSX1 gene, whereas an association was observed between the P147Q variant and cleft lip with cleft palate in the case-control analysis.
  76. pmc Tbx1 regulates oral epithelial adhesion and palatal development
    Noriko Funato
    Human Gene Sciences Center, Tokyo Medical and Dental University, 1 5 45 Yushima, Bunkyo ku, Tokyo 113 8510, Japan
    Hum Mol Genet 21:2524-37. 2012
    b>Cleft palate, the most frequent congenital craniofacial birth defect, is a multifactorial condition induced by the interaction of genetic and environmental factors...
  77. ncbi Region 8q24 is a susceptibility locus for nonsyndromic oral clefting in Brazil
    Luciano Abreu Brito
    Human Genome Research Center, Institute of Biosciences, University of Sao Paulo, Brazil
    Birth Defects Res A Clin Mol Teratol 94:464-8. 2012
    Nonsyndromic cleft lip with or without cleft palate is a relatively common craniofacial defect with multifactorial inheritance. The association of the rs987525 single nucleotide variant, located in a gene desert at 8q24...
  78. ncbi Volumetric assessment of secondary alveolar bone grafting using cone beam computed tomography
    Snehlata Oberoi
    Center for Craniofacial Anomalies, Department of Orofacial Sciences, University of California at San Francisco, 94143, USA
    Cleft Palate Craniofac J 46:503-11. 2009
    ..To assess the radiographic outcome of secondary alveolar bone grafting in individuals with nonsyndromic unilateral or bilateral cleft lip and palate using cone beam computed tomography...
  79. pmc Association between IRF6 SNPs and oral clefts in West China
    Y Huang
    State Key Laboratory of Oral Disease, West China College of Stomatology, Sichuan University, Chengdu 610041, P R China
    J Dent Res 88:715-8. 2009
    ..Five specific haplotypes showed significant over- and under-transmission. These results further support a role for IRF6 variants in western Chinese populations...
  80. ncbi Cleft lip and palate versus cleft lip only: are they distinct defects?
    Emily W Harville
    Department of Epidemiology, University of North Carolina Chapel Hill, Chapel Hill, NC 27599 7435, USA
    Am J Epidemiol 162:448-53. 2005
    Cleft lip defects are usually regarded as a single entity, with the assumption that an accompanying cleft palate represents the more severe form...
  81. ncbi Confirmation of the role of N-acetyltransferase 2 in teratogen-induced cleft palate using transgenics and knockouts
    Robert P Erickson
    Department of Pediatrics, University of Arizona, Tucson, Arizona 85724 5073, USA
    Mol Reprod Dev 75:1071-6. 2008
    Previous work on Dilantin- and hydrocortisone-induced cleft palate and cleft lip with or without cleft palate using congenics for the N-acetyltransferase loci (Nat1 and Nat2 are closely linked) and recombinant inbred lines implicated the ..
  82. pmc Human stem cell cultures from cleft lip/palate patients show enrichment of transcripts involved in extracellular matrix modeling by comparison to controls
    Daniela Franco Bueno
    Human Genome Research Center, Biosciences Institute of University of Sao Paulo USP, Sao Paulo, Sao Paulo, Brazil
    Stem Cell Rev 7:446-57. 2011
    ..This comparative approach should lead to a more rapid identification of gene networks predisposing to this complex malformation syndrome than conventional gene mapping technologies...
  83. pmc Cleft lip and palate incidence among the live births in the Republic of Korea
    Sukwha Kim
    Department of Reconstructive Plastic Surgery, College of Medicine, Seoul National University, Seoul, Korea
    J Korean Med Sci 17:49-52. 2002
    ..81 per 1000, that is, 1 per 554 live births. The cleft lip: cleft lip and palate: cleft palate alone ratio was 1.13:1:1.19. The male: female ratio was 2.1:1 in the cleft lip group, and 2...
  84. pmc Cooperation between the transcription factors p63 and IRF6 is essential to prevent cleft palate in mice
    Helen A Thomason
    Faculty of Medical and Human Sciences, Manchester Academic Health Sciences Centre, University of Manchester, Manchester, United Kingdom
    J Clin Invest 120:1561-9. 2010
    b>Cleft palate is a common congenital disorder that affects up to 1 in 2,500 live human births and results in considerable morbidity to affected individuals and their families...
  85. ncbi De novo interstitial deletion of 1q32.2-q32.3 including the entire IRF6 gene in a patient with oral cleft and other dysmorphic features
    I Salahshourifar
    Human Genome Center, Universiti Sains Malaysia, Kubang Kerian, Malaysia
    Cytogenet Genome Res 134:83-7. 2011
    ..The extent of the deletion and the genotype-phenotype correlation are 2 crucial issues...
  86. pmc Health professionals' assessment of health-related quality of life values for oral clefting by age using a visual analogue scale method
    George L Wehby
    College of Public Health, Department of Health Management and Policy, University of Iowa, Iowa City, Iowa 52242 1181, USA
    Cleft Palate Craniofac J 43:383-91. 2006
    ..To elicit health-related quality of life (HRQL) values associated with oral clefting by age using a visual analogue scale, and to explore the appropriateness of using health professionals as evaluators...
  87. ncbi Altered mandibular development precedes the time of palate closure in mice homozygous for disproportionate micromelia: an oral clefting model supporting the Pierre-Robin sequence
    James E Ricks
    Department of Zoology, Brigham Young University, Provo, Utah 84602, USA
    Teratology 65:116-20. 2002
    ..interaction of the expanding tongue and elongating Meckel's cartilage correlates with the appearance of cleft palate. Mice homozygous for the semi-dominant Col2a1 mutation Disproportionate micromelia (Dmm), presenting at birth ..
  88. ncbi Use of hearing aids in the management of children with cleft palate
    A A Maheshwar
    Department of Otorhinolaryngology and Head and Neck Surgery, Royal Gwent Hospital, Newport NP20 2UB, UK
    Int J Pediatr Otorhinolaryngol 66:55-62. 2002
    The incidence of otitis media with effusion in children with cleft palate is high. There are numerous reports looking at early insertion of ventilation tubes (VT) with associated complications...
  89. ncbi The mechanism of palatal clefting in the Col11a1 mutant mouse
    I O Lavrin
    Department of Growth and Development, Division of Orthodontics and Dentofacial Orthopedics, Harvard School of Dental Medicine, Boston, MA 02115, USA
    Arch Oral Biol 46:865-9. 2001
    The occurrence of cleft palate in mutant mice offers an opportunity to understand the possible role of specific genes in palatogenesis...
  90. ncbi Temporal and spatial expression of Pax9 and Sonic hedgehog during development of normal mouse palates and cleft palates in TGF-beta3 null embryos
    Yasunori Sasaki
    Faculty of Life Sciences, University of Manchester, Manchester, UK
    Arch Oral Biol 52:260-7. 2007
    ..These results indicate that Pax9 and Shh expression are altered when the TGF-beta3 gene is deleted and suggest that Pax9 and Shh may be involved in the TGF-beta3 regulation of normal palatal fusion...
  91. pmc Analysis of a gain-of-function FGFR2 Crouzon mutation provides evidence of loss of function activity in the etiology of cleft palate
    Alison K Snyder-Warwick
    Division of Plastic Surgery, Departments of Developmental Biology and Pathology and Immunology, Washington University School of Medicine, St Louis, MO 63110, USA
    Proc Natl Acad Sci U S A 107:2515-20. 2010
    b>Cleft palate is a common birth defect in humans and is a common phenotype associated with syndromic mutations in fibroblast growth factor receptor 2 (Fgfr2)...
  92. pmc Generation of mice with a conditional null allele of the Jagged2 gene
    Jingxia Xu
    The Jackson Laboratory, Bar Harbor, Maine 04609, USA
    Genesis 48:390-3. 2010
    ..Mice homozygous for a Jag2 null allele die at birth from cleft palate, precluding study of Jag2 function in postnatal and adult mice...
  93. pmc Holoprosencephaly and ectrodactyly: Report of three new patients and review of the literature
    Amelia A Keaton
    University of South Carolina, USA
    Am J Med Genet C Semin Med Genet 154:170-5. 2010
    ..There has been great interest in identifying a genetic cause for the findings in patients with HPE and ectrodactyly; however the cause(s) of this rare association still remain unknown...
  94. ncbi Cleft palate in a patient with Williams' syndrome
    F Blanco-Davila
    Division of Plastic and Reconstructive Surgery, Craniofacial Surgery Clinic, University Hospital Dr Jose E González, Autonomous University of Nuevo Leon, Monterrey, NL Mexico
    J Craniofac Surg 12:145-7. 2001
    ..We present a patient who had cleft palate among other congenital manifestations...
  95. ncbi Identification of germline mutations in the cancer predisposing gene CDH1 in patients with orofacial clefts
    Ingrid P Vogelaar
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen 6500 HB, The Netherlands
    Hum Mol Genet 22:919-26. 2013
    ..This finding opens a new pathway to reveal the molecular basis of non-syndromic OFC. Cancer risk among carriers of these mutations needs to be defined...
  96. ncbi Cleft lip and palate in family members of cancer survivors
    E Taioli
    Department of Epidemiology, SUNY Downstate Medical Center, Brooklyn, New York, USA
    Cancer Invest 28:958-62. 2010
    The presence of cleft lip with or without cleft palate (CL/P) in family members of cancer patients was investigated...
  97. pmc Cancer risk in persons with oral cleft--a population-based study of 8,093 cases
    Camilla Bille
    Center for the Prevention of Congenital Malformations, Institute of Public Health, University of Southern Denmark, Odense, Denmark
    Am J Epidemiol 161:1047-55. 2005
    ..few significant associations: an increased occurrence of breast cancer among females born with cleft lip and/or cleft palate (standardized incidence ratio (SIR) = 1.52, 95% CI: 1.05, 2...
  98. ncbi MTHFR is not a risk factor in the development of isolated nonsyndromic cleft lip and palate
    Susan H Blanton
    Am J Med Genet 110:404-5. 2002
  99. ncbi The multidisciplinary evaluation and management of cleft lip and palate
    Nathaniel H Robin
    Department of Genetics, University of Alabama at Birmingham, Birmingham AL 35294, USA
    South Med J 99:1111-20. 2006
    Cleft lip with or without a cleft palate (CLP) and cleft palate alone (CPA) are common birth defects, with a combined birth prevalence of about 1 to 2/1,000...
  100. ncbi SUMO1 polymorphisms are associated with non-syndromic cleft lip with or without cleft palate
    Tao Song
    Department of Oral Maxillofacial Surgery, School of Stomatology, Harbin Medical University, Harbin, China
    Biochem Biophys Res Commun 377:1265-8. 2008
    ..However, no studies have linked SUMO1 to non-syndromic cleft lip with or without cleft palate (NSCLP) in humans...
  101. pmc Multiplex relative risk and estimation of the number of loci underlying an inherited disease
    Paul Schliekelman
    Department of Integrative Biology, University of California, Berkeley, USA
    Am J Hum Genet 71:1369-85. 2002
    ..showing that the maximum-likelihood estimate for L produced by the method of Farrall and Holder for cleft lip/cleft palate data is not consistent with the prevalence under the multiplicative model...

Research Grants71

  1. Physiological role of PRDM16 in brown fat development and energy balance
    Patrick Seale; Fiscal Year: 2011
    ..The knock-out animals are perinatal lethal and have a pronounced cleft palate (B. Bjork, D. Beier et a/., in review)...
  2. Environmental Risk Factors for Copy Number Variation in Human Chromosomes
    THOMAS EDWARD WILSON; Fiscal Year: 2010
    ..cause of genetic and developmental disorders, including mental retardation, autism, schizophrenia, epilepsy, cleft palate and many others...
  3. Air Toxics, Neighborhood Environment and Risk of Oral Clefts
    Philip J Lupo; Fiscal Year: 2013
    ..Cleft lip with or without cleft palate (CL[unreadable]P) is one of the most common of these defects, occurring in approximately 1 per 1,000 live ..
  4. Ribosomal Protein Gene Silencing in Neural Crest Stem Cells
    JOHNSON MING YU LIU; Fiscal Year: 2010
    ..cases of DBA have been linked to mutations in genes encoding ribosomal proteins, however, orofacial anomalies (cleft palate) were found only in patients with RPL5 mutations...
  5. Eph/ephrin signaling in craniofacial development and disease
    JEFFREY OHMANN BUSH; Fiscal Year: 2010
    ..This work has shown that the cleft palate phenotype associated with ephrin-B1 loss of function is caused by defective anterior palatal shelf outgrowth ..
  6. Eph/ephrin signaling in craniofacial development and disease
    JEFFREY OHMANN BUSH; Fiscal Year: 2013
    ..This work has shown that the cleft palate phenotype associated with ephrin-B1 loss of function is caused by defective anterior palatal shelf outgrowth ..
  7. Regenerating Human Oral Mucosa by Bone Marrow-derived Mesenchymal Stem Cells
    RUBIE ANN RAKIAN; Fiscal Year: 2013
    ..defects are secondary to oncologic resection, traumatic events or congenital craniofacial malformations such as cleft palate. Current repair treatments such as autologous grafts are restricted by donor site morbidity, tissue shortage, ..
  8. INTERNATIONAL GENETIC EPIDEMIOLOGY OF ORAL CLEFTS
    Terri H Beaty; Fiscal Year: 2013
    ..study on the genetic etiology of oral clefts (including cleft lip, CL;cleft lip and palate, CLP;and cleft palate, CP) by recruiting cases from 5 sites (Maryland, Singapore, Taiwan, and 2 sites in China)...
  9. A Developmental Craniofacial Atlas for the Zebrafish
    Charles B Kimmel; Fiscal Year: 2010
    ..model organism for understanding conserved features of development of the skull, and human disorders such as cleft palate. The atlas will provide a key resource for scientists wishing to discover how the complex anatomy of the ..
  10. Genetic Risk for Orofacial Clefts in the Folate/Homocysteine Pathway
    NICHOLAS MARINI; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): Orofacial clefts, specifically cleft lip and cleft palate, are common and costly congenital anomalies whose etiologies remain largely unknown...
  11. The role of the primitive choana in amniote craniofacial morphogenesis
    John Abramyan; Fiscal Year: 2013
    ..Mice have a complete secondary palate, chickens have a natural cleft palate and turtles have primitive palate...
  12. Furlow Palatoplasty with Tensor Tenopexy for Otitis Media
    Joseph E Losee; Fiscal Year: 2013
    ..tube function (ETF) and reducing the prevalences of otitis media with effusion (OME) and hearing loss in cleft palate (CP) patients without causing adverse events or having detrimental effects on the other functions affected by ..
  13. Quality of Life in Children with Cleft
    Hillary L Broder; Fiscal Year: 2013
    ..This project will enroll children (ages 8-17) with cleft palate only (CPO) and cleft lip and palate and their caregivers who are evaluated at five renown craniofacial centers (..
  14. Role of endocytosis by the neural crest in cardio-craniofacial development
    ANNA LUISE KEYTE; Fiscal Year: 2013
    ..variable, but are frequently characterized by congenital heart disease, especially tetralogy of Fallot, and cleft palate. The co-occurrence of birth defects of the heart, face, and structures of the pharynx reflects not only their ..
  15. Shaping the craniofacial skeleton in the zebrafish
    APRIL F DELAURIER; Fiscal Year: 2010
    ..Mef2c is a transcription factor in the endothelinl (ednl) pathway, disruption of which is associated with cleft palate defects in humans...
  16. Molecular characterization of novel loci for orofacial clefting using canine mode
    Danika L Bannasch; Fiscal Year: 2013
    ..They can occur as isolated cases of cleft palate (CPO), or cleft lip with or without cleft palate (CL/P), or in combination with other birth defects...
  17. Growth Factor Signaling in Mouse Palatogensis
    YiPing Chen; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): Non-syndromic cleft lip and cleft palate, one of the major groups of congenital birth defects in human beings...
  18. Cellular and Developmental Function of Mena
    Frank B Gertler; Fiscal Year: 2012
    ..together event fails, the consequences can be devastating, resulting in congenital abnormalities as severe as cleft palate or spina bifda...
  19. CRANIOFACIAL MORPHOGENESIS IN ZEBRAFISH
    Charles B Kimmel; Fiscal Year: 2013
    ..Hence, zebrafish can teach us much about the nature of the defects in inherited craniofacial disorders such as cleft palate. Three projects are proposed to test specific predictions of hypotheses explaining critical aspects of early ..
  20. The Use of Electropalatography in the Treatment of Apraxia of Speech
    Shannon C Mauszycki; Fiscal Year: 2012
    ..EPG has had extensive application with a variety of speech disorders, such as those resulting from cleft palate, hearing impairment, and developmental speech delay (Carter et al., 2004;Dagenais, 1992, 1995;Fletcher et al...
  21. Epithelial-mesenchymal interactions in facial patterning
    GAGE D CRUMP; Fiscal Year: 2013
    ..signaling within human arches result in a variety of birth defects, including facial deformities and cleft palate. Whereas major advances have been made in identifying the signaling pathways involved in facial development, ..
  22. TGF-BETA SIGNALING IN PALATOGENESIS
    Mark M Urata; Fiscal Year: 2012
    DESCRIPTION (provided by applicant): Cleft palate is the most common congenital craniofacial anomaly and occurs as an isolated defect as well as a component of syndromic and sequential disorders...
  23. Genetic Characterization of a Novel Model of Cleft Palate
    Stephen A Murray; Fiscal Year: 2010
    ..Although an increasing number of genes have been linked to cleft lip and cleft palate, the mechanisms governing orofacial malformations remain unclear...
  24. P30 Center in Craniofacial Bone Biology
    Nicola C Partridge; Fiscal Year: 2010
    ..This will advance research into understanding important disease processes such as cleft palate and lead to strategies for the repair of such problems along with Craniofacial injuries caused by cancer, ..
  25. Oral Clefts: Moving from Genome Wide Studies Toward Functional Genomics
    Terri H Beaty; Fiscal Year: 2013
    ..RELEVANCE: This project is designed to follow up evidence from a genome wide study of oral clefts (cleft lip, cleft palate &cleft lip and palate) in a large international study of humans by sequencing specific genes to identify ..
  26. Sleep and Neurobehavioral Performance After Cleft Palate Repair
    LOUISE M O apos BRIEN; Fiscal Year: 2010
    b>Cleft palate is a highly prevalent craniofacial malformation that affects approximately one in 700 newborns in the U.S...
  27. Extending the Phenotype of Nonsyndromic Orofacial Clefts
    Mary L Marazita; Fiscal Year: 2012
    Abstract Orofacial clefts (OFCs), particularly nonsyndromic cleft lip with or without cleft palate (NS CL/P) are a major public health problem, affecting one in every 500-1000 births worldwide...
  28. Super-resolution Reconstruction of Fetal Craniofacial MRI
    ALI GHOLIPOUR-BABOLI; Fiscal Year: 2012
    ..Nevertheless the diagnostic accuracy of sonography for complex craniofacial diseases such as cleft lip and cleft palate, hemifacial microsomia, micrognathia, etc. is extremely low...
  29. A 3-D Interactive Atlas of the Human Skull
    Kevin N Montgomery; Fiscal Year: 2010
    ..collection of pathologies which would demonstrate dramatic bony changes in the skull such as: microcephalia;cleft palate;Paget's disease;cancer;TMJ disorders;etc...
  30. MOLECULAR GENETIC ANALYSIS OF CRANIOFACIAL DEVELOPMENT
    Rulang Jiang; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): Cleft palate is among the most common birth defects in humans. In recent years, significant progress has been achieved in identifying genetic factors associated with cleft palate in humans...
  31. THE ROLE OF TGF-BETA3 IN PALATOGENESIS
    VESA M KAARTINEN; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): Cleft palate is among the most common birth defects in humans...
  32. The regulation of neural crest cell migration during zebrafish development
    EUGENIA C OLESNICKY KILLIAN; Fiscal Year: 2010
    ..Aberrant cell migration can result in various developmental disorders including cleft palate syndrome, and in the development of chronic inflammation...
  33. Causes of Variability in Craniofacial Disease
    Johann K Eberhart; Fiscal Year: 2013
    ..While untreated pdgfra mutants have cleft palate, our first genetic screen demonstrated that ethanol-treated pdgfra mutants have profound and extensive ..
  34. SAM Domains
    James U Bowie; Fiscal Year: 2012
    ..module found in about a hundred human proteins, including proteins directly involved in autism, leukemia, cleft palate, immune disorders, deafness and blindness...
  35. Methyl Donor Pathway Genetics in the Development of Orofacial Clefts
    JASPER D RINE; Fiscal Year: 2010
    ..Orofacial clefts, specifically cleft lip and cleft palate, are common and costly congenital anomalies whose etiologies remain largely unknown...
  36. A Noninvasive Portable Device to Evaluate Feeding Problems in Infants
    Neil R M Buist; Fiscal Year: 2012
    ..We examine an intriguing result in a small sample of infants with submucosal cleft palate and velopharyngeal insufficiency...
  37. Filamin interactions in differentiation, invasion and disease
    David A Calderwood; Fiscal Year: 2013
    ..generally characterized by skeletal dysplasias but also including extra-skeletal malformations such as cleft palate, cardiac defects and obstructive uropathy...
  38. The Role of GSK-3beta in Palate Development and Fusion
    Michael Longaker; Fiscal Year: 2009
    ..Among them, cleft palate posed an annual "national bill" exceeding $100 million in 2004 in direct hospital costs alone and is highly ..
  39. Mapping nonsyndromic cleft lip and palate genetic loci
    Jacqueline T Hecht; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): Nonsyndromic cleft lip with or without cleft palate (NSCLP) is a common complex orofacial birth defect associated with significant morbidity and increased mortality...
  40. A forward genetics approach to identify novel core regulators of epithelial patte
    MARK MARTINDALE; Fiscal Year: 2011
    ..and defects in this process often lead to birth defects such as spina bifida or cleft palate. Identifying and studying genes that control epithelial tissue patterning, growth, and morphology will enhance ..
  41. The Role of IRF6 During Craniofacial Development
    Steven L Goudy; Fiscal Year: 2012
    ..Mice deficient for Irf6 have cleft palate, micrognathia and oral adhesions. Mice deficient for either FgflO or Tbx1 have cleft palate and oral adhesions...
  42. Wnt Signaling in Craniofacial Developmental Disorders
    Chengji Zhou; Fiscal Year: 2013
    ..Congenital craniofacial defects, particularly the cleft lip with or without cleft palate (CLP), are among the most common birth defects in humans...
  43. An Exploratory Model of Early Speech Intervention for Children with Cleft Palate
    Nancy J Scherer; Fiscal Year: 2010
    ..This model will be compared to a traditional articulation treatment provided in the community. ..
  44. Multigenic Dissection of Nonsyndromic Oral Clefts
    Rachel L Badovinac; Fiscal Year: 2010
    ..Relevance: Cleft lip and/or cleft palate are among the most common birth defects have serious physical, psychological, and financial consequences for ..
  45. Regulatory role and signaling mechanism of R-spondin in craniofacial development
    Jeong K Yoon; Fiscal Year: 2012
    ..For instance, cleft palate occurs at a rate of 1 out of 1,000 newborns...
  46. Endothelial protease activity, organogenesis and birth defects
    Suneel S Apte; Fiscal Year: 2012
    ..The proposed work has immediate significance for common human birth defects, such as cleft palate and cardiac anomalies, and may provide new mouse models for other developmental defects.
  47. Timing of Primary Surgery for Cleft Palate
    WILLIAM CHRISTIE SHAW; Fiscal Year: 2012
    DESCRIPTION (provided by applicant): Isolated cleft palate is the commonest craniofacial birth anomaly (e.g., 4.5 per 10,000 births in the US). It creates problems in feeding, speech, hearing, and dental development...
  48. NIPBL, Cohesin and Related Structural Birth Defects
    Ian D Krantz; Fiscal Year: 2013
    ..g. congenital heart defects, cleft palate, diaphragmatic hernias, limb defects) seen in constellation in CdLS. The PI (Dr...
  49. Matrix Metalloproteinase Gene Variants and Cleft Lip and Palate
    ARIADNE M LETRA; Fiscal Year: 2012
    ..The experimental focus of this proposal is on MMP gene variants and cleft lip with or without cleft palate (CL/P). CL/P is a common congenital anomaly that results from defects during embryonic development...
  50. Genetic Hierarchies and Cellular Behaviors during Zebrafish Palatogenesis
    Johann K Eberhart; Fiscal Year: 2010
    There are hundreds of craniofacial diseases in humans and cleft palate is common among these. The goal of this proposal is to elucidate the signaling interactions and cellular behaviors underlying palatogenesis...
  51. Development of Stop Consonants in Children with Repaired Cleft Palate
    David J Zajac; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): Cleft palate is the most frequently occurring facial birth defect in the United States...
  52. Genetic Determinants of Orofacial Shape and Relationship to Cleft Lip/Palate
    RICHARD ANDREW SPRITZ; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): Orofacial clefts, principally cleft lip (CL), cleft palate (CP), and cleft lip and palate (CLP), are among the most common major birth defects, occurring in ~1/700 to 1/1000 live births in various ..
  53. Biological roles of ADAMTS Proteases
    SUNEEL APTE; Fiscal Year: 2009
    ..bt/bt;Adamts5- /- webs during their regression, and Vcan interacts genetically with these proteases in STS and cleft palate. Moreover, biochemical studies and genetics identified fibulin-1 as a co-factor for ADAMTS5 in web regression...
  54. Timing of Primary Surgery for Cleft Palate
    Paula Williamson; Fiscal Year: 2012
    DESCRIPTION (provided by applicant): Isolated cleft palate is the commonest craniofacial birth anomaly (e.g., 4.5 per 10,000 births in the US). It creates problems in feeding, speech, hearing, and dental development...
  55. PI3K/Akt-mediated PDGFRalpha signaling in craniofacial development
    KATHERINE ANN FANTAUZZO; Fiscal Year: 2013
    ..development, as evidenced by the phenotypes of mouse models with mutations in the pathway, which range from a cleft palate to shortening of the frontonasal masses and complete facial clefting...
  56. FGF Signaling Pathways and Craniofacial Development
    PHILIPPE M SORIANO; Fiscal Year: 2013
    ..Loss of Fgfr2 in the epithelium leads to a cleft palate. To establish the signaling mechanisms underlying this defect, we will generate and analyze an allelic series ..
  57. Functional Outcomes of Cleft Lip Surgery
    CARROLL ANN TROTMAN; Fiscal Year: 2011
    DESCRIPTION (provided by applicant): Babies born with a cleft of the lip/cleft palate (CL/P) have an obvious facial disability. Surgeons perform an initial or primary repair of the lip and nose soon after birth...
  58. Characterization of NSCLP gene CRISPLD2
    BRETT THOMAS CHIQUET; Fiscal Year: 2010
    Nonsyndromic cleft lip with or without cleft palate (NSCLP) is a common complex birth disorder that affects 1/700 live births, with 4000 cases each year in the United States...
  59. FOXC2 in Hereditary Lymphedema and Lymphatic Development
    Thomas Glover; Fiscal Year: 2007
    ..Associated abnormalities include tetralogy of Fallot, cleft palate, hydrops fetalis and cystic hygroma...
  60. TGF BETA SIGNALING AND CRANIOFACIAL MORPHOGENESIS
    Yang Chai; Fiscal Year: 2013
    ..b>Cleft palate represents one of the major groups of congenital birth defects in the human population...
  61. Genetic Basis of Cleft Lip and Palate
    Rulang Jiang; Fiscal Year: 2012
    ..Orofacial clefts, including cleft lip and cleft palate, are common birth defects that affect approximately 1 in 700 live births worldwide...
  62. Cis-regulatory circuitry underlying Hedgehog mediated limb development
    STEVEN ALEXANDER VOKES; Fiscal Year: 2013
    ..in the Hedgehog (Hh) pathway underlie a vast spectrum of human birth defects, including holoprosencephaly, cleft palate, and polydactyly. Hh signaling controls transcription by regulating the activity of Gli transcription factors...
  63. Inhibin/Activin Family in Human Cranifocial Development
    Geralyn Messerlian; Fiscal Year: 2003
    The etiology of craniofacial abnormalities is multi-factorial and defects such as cleft palate often occur in the absence of a known cause...
  64. Growth Factor Signaling and Craniofacial Development
    PHILIPPE M SORIANO; Fiscal Year: 2013
    ..and improper development of the frontonasal process, whereas hypomorphic mutations in this pathway result in cleft palate. This application proposes: 1...
  65. CLEFT LIP AND PALATE IN LOS ANGELES HISPANICS
    M Spence; Fiscal Year: 1990
    ..investigate the etiology of facial clefts by analyzing family data for the Hispanic population treated by the Cleft Palate Service of Rancho Los Amigos Hospital, Los Angeles County, California...
  66. Speech Intelligibility Testing in Children with Repaired Cleft Palate
    David Zajac; Fiscal Year: 2007
    b>Cleft palate is one of the most frequently occurring birth defects in the United States...
  67. Eustachian Tube Form/Function in Cleft Lip and Palate
    Anil Gungor; Fiscal Year: 2004
    ..Hearing loss and otitis media and effusion (OME) are common in cleft palate (CP patients because of poor Eustachian tube (ET) function resulting from hypoplasia and malpositioning of the ..
  68. INTERNATIONAL GENETIC EPIDEMIOLOGY OF ORAL CLEFTS
    Terri Beaty; Fiscal Year: 2001
    Oral clefts (including cleft lip, CL; cleft palate, CP; and cleft lip and palate, CLP) represent a complex and heterogeneous group of crainofacial defects that constitute a major public health burden due to their high prevalence...
  69. ORAL-FACIAL CLEFTS IN CHINA
    Michael Melnick; Fiscal Year: 1990
    Cleft lip with or without cleft palate (CL+-P) is a major health problem, afflicting 1 in every 500-1000 newborn babies world wide; the etiology remains unclear. For CL+-P, Orientals are at higher risk than Caucasians or Blacks...
  70. IDENTICAL BY DESCENT MAPPING OF CRANIOFACIAL ANOMALIES
    Andrew Lidral; Fiscal Year: 1999
    ..isolated defects, which can be separated into two different phenotypes: cleft lip with or without cleft palate (CL/P) and cleft palate only (CPO)...
  71. HOMOZYGOSITY MAPPING OF ORAL-FACIAL CLEFTS IN TURKEY
    Mary Marazita; Fiscal Year: 2000
    Oral-facial clefts, particularly cleft lip with or without cleft palate (CL/P) are a major public health problem, affecting one in every 500-1000 births worldwide...