craniofacial abnormalities

Summary

Summary: Congenital structural deformities, malformations, or other abnormalities of the cranium and facial bones.

Top Publications

  1. pmc Multiple organ system defects and transcriptional dysregulation in the Nipbl(+/-) mouse, a model of Cornelia de Lange Syndrome
    Shimako Kawauchi
    Department of Anatomy and Neurobiology, University of California Irvine, Irvine, California, United States of America
    PLoS Genet 5:e1000650. 2009
  2. 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
  3. pmc Connexin43 deficiency causes delayed ossification, craniofacial abnormalities, and osteoblast dysfunction
    F Lecanda
    Divisions of Bone and Mineral and Infectious Diseases, Department of Internal Medicine, Washington University School of Medicine, Barnes Jewish Hospital, St Louis, Missouri 63110, USA
    J Cell Biol 151:931-44. 2000
  4. pmc Cohesin proteins promote ribosomal RNA production and protein translation in yeast and human cells
    Tania Bose
    Stowers Institute for Medical Research, Kansas City, Missouri, United States of America
    PLoS Genet 8:e1002749. 2012
  5. pmc Cdon mutation and fetal ethanol exposure synergize to produce midline signaling defects and holoprosencephaly spectrum disorders in mice
    Mingi Hong
    Department of Developmental and Regenerative Biology, Mount Sinai School of Medicine, New York, New York, USA
    PLoS Genet 8:e1002999. 2012
  6. ncbi GTF2IRD1 in craniofacial development of humans and mice
    May Tassabehji
    Academic Unit of Medical Genetics, University of Manchester, St Mary s Hospital, Manchester M13 9PL, UK
    Science 310:1184-7. 2005
  7. pmc Cranial neural crest cells on the move: their roles in craniofacial development
    Dwight R Cordero
    Department of Obstetrics, Gynecology and Reproductive Biology, Brigham and Women s Hospital and Harvard Medical School, Boston, Massachusetts, USA
    Am J Med Genet A 155:270-9. 2011
  8. pmc Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia
    William A Paznekas
    Department of Pediatrics, Center for Craniofacial Development and Disorders, McKusick Nathans Institute of Genetic Medicine, The Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA
    Am J Hum Genet 72:408-18. 2003
  9. ncbi Fgf8 is required for anterior heart field development
    Roger Ilagan
    Department of Pediatrics, Duke University Medical Center, Durham, NC 27710, USA
    Development 133:2435-45. 2006
  10. pmc Ephrin-B1 forward signaling regulates craniofacial morphogenesis by controlling cell proliferation across Eph-ephrin boundaries
    Jeffrey O Bush
    Program in Developmental Biology and Division of Basic Sciences, Fred Hutchinson Cancer Research Center, Seattle, Washington 98109, USA
    Genes Dev 24:2068-80. 2010

Detail Information

Publications242 found, 100 shown here

  1. pmc Multiple organ system defects and transcriptional dysregulation in the Nipbl(+/-) mouse, a model of Cornelia de Lange Syndrome
    Shimako Kawauchi
    Department of Anatomy and Neurobiology, University of California Irvine, Irvine, California, United States of America
    PLoS Genet 5:e1000650. 2009
    ..In addition, evidence is presented that reduced expression of genes involved in adipogenic differentiation may underlie the low amounts of body fat observed both in Nipbl+/- mice and in individuals with CdLS...
  2. 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...
  3. pmc Connexin43 deficiency causes delayed ossification, craniofacial abnormalities, and osteoblast dysfunction
    F Lecanda
    Divisions of Bone and Mineral and Infectious Diseases, Department of Internal Medicine, Washington University School of Medicine, Barnes Jewish Hospital, St Louis, Missouri 63110, USA
    J Cell Biol 151:931-44. 2000
    ..Cell to cell signaling, mediated by Cx43 gap junctions, was critical for normal osteogenesis, craniofacial development, and osteoblastic function...
  4. pmc Cohesin proteins promote ribosomal RNA production and protein translation in yeast and human cells
    Tania Bose
    Stowers Institute for Medical Research, Kansas City, Missouri, United States of America
    PLoS Genet 8:e1002749. 2012
    ..Reduced translational capacity could contribute to the human cohesinopathies...
  5. pmc Cdon mutation and fetal ethanol exposure synergize to produce midline signaling defects and holoprosencephaly spectrum disorders in mice
    Mingi Hong
    Department of Developmental and Regenerative Biology, Mount Sinai School of Medicine, New York, New York, USA
    PLoS Genet 8:e1002999. 2012
    ..Furthermore, gene-environment interactions are likely to be important in the multifactorial etiology of HPE...
  6. ncbi GTF2IRD1 in craniofacial development of humans and mice
    May Tassabehji
    Academic Unit of Medical Genetics, University of Manchester, St Mary s Hospital, Manchester M13 9PL, UK
    Science 310:1184-7. 2005
    b>Craniofacial abnormalities account for about one-third of all human congenital defects, but our understanding of the genetic mechanisms governing craniofacial development is incomplete...
  7. pmc Cranial neural crest cells on the move: their roles in craniofacial development
    Dwight R Cordero
    Department of Obstetrics, Gynecology and Reproductive Biology, Brigham and Women s Hospital and Harvard Medical School, Boston, Massachusetts, USA
    Am J Med Genet A 155:270-9. 2011
    ..Furthermore, we present recent findings on NCC diseases called neurocristopathies and, in doing so, provide clinicians with new tools for understanding a growing number of craniofacial genetic disorders...
  8. pmc Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia
    William A Paznekas
    Department of Pediatrics, Center for Craniofacial Development and Disorders, McKusick Nathans Institute of Genetic Medicine, The Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA
    Am J Hum Genet 72:408-18. 2003
    ..Expression patterns and phenotypic features of gja1 animal mutants, reported elsewhere, are compatible with the pleiotropic clinical presentation of oculodentodigital dysplasia...
  9. ncbi Fgf8 is required for anterior heart field development
    Roger Ilagan
    Department of Pediatrics, Duke University Medical Center, Durham, NC 27710, USA
    Development 133:2435-45. 2006
    ..Analysis of downstream signaling components, such as phosphorylated-Erk and Pea3, identifies the AHF splanchnic mesoderm itself as a target for Fgf8 signaling...
  10. pmc Ephrin-B1 forward signaling regulates craniofacial morphogenesis by controlling cell proliferation across Eph-ephrin boundaries
    Jeffrey O Bush
    Program in Developmental Biology and Division of Basic Sciences, Fred Hutchinson Cancer Research Center, Seattle, Washington 98109, USA
    Genes Dev 24:2068-80. 2010
    ....
  11. pmc The genetic basis of a craniofacial disease provides insight into COPII coat assembly
    J Christopher Fromme
    Department of Molecular and Cell Biology, University of California, Berkeley, Berkeley, CA 94720, USA
    Dev Cell 13:623-34. 2007
    ..Our results indicate that the Sar1-Sec23-Sec24 prebudding complex is sufficient to form cargo-containing tubules in vivo, whereas the Sec13-Sec31 complex is required for membrane fission...
  12. ncbi Dlx5 regulates regional development of the branchial arches and sensory capsules
    M J Depew
    Nina Ireland Laboratory of Developmental Neurobiology, Center for Neurobiology and Psychiatry, Department of Psychiatry and Programs in Neuroscience, Developmental Biology, Oral Biology and Biomedical Sciences, University of California at San Fran
    Development 126:3831-46. 1999
    ....
  13. ncbi Strain-dependent effects of developmental ethanol exposure in zebrafish
    Evyn Loucks
    Great Lakes WATER Institute, University of Wisconsin Milwaukee, Milwaukee, WI 53204, USA
    Neurotoxicol Teratol 26:745-55. 2004
    ....
  14. ncbi Some oculodentodigital dysplasia-associated Cx43 mutations cause increased hemichannel activity in addition to deficient gap junction channels
    Radoslaw Dobrowolski
    Institute of Genetics, University of Bonn, Roemerstrasse 164, 53117, Bonn, Germany
    J Membr Biol 219:9-17. 2007
    ..We hypothesize that increased hemichannel activity may aggravate the phenotypic abnormalities in ODDD patients who are deficient in Cx43 gap junction channels...
  15. ncbi Dental anomalies in a child with craniometaphysial dysplasia
    Hai Zhang
    Department of Restorative Dentistry, School of Dentistry, University of Washington, Seattle, Wash, USA
    Pediatr Dent 29:415-9. 2007
    ..Radiographic evidence of excess mineralization was noted on the primary maxillary second molars, limited to the mesial region of the crowns. The genetic and molecular effects of Ank/Ankh mutations are also discussed...
  16. pmc Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome
    Stephen R F Twigg
    Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DS, United Kingdom
    Proc Natl Acad Sci U S A 101:8652-7. 2004
    ..This is the only known mutation in the ephrin/Eph receptor signaling system in humans and provides clues to the biogenesis of craniosynostosis...
  17. pmc Neural crest cell-specific deletion of Rac1 results in defective cell-matrix interactions and severe craniofacial and cardiovascular malformations
    Penny S Thomas
    Biologic and Materials Sciences, University of Michigan School of Dentistry, Ann Arbor, Michigan, USA
    Dev Biol 340:613-25. 2010
    ....
  18. ncbi Kabuki make-up syndrome: a review
    Naomichi Matsumoto
    Department of Human Genetics, Nagasaki University School of Medicine, Sakamoto 1 12 4, Nagasaki 852 8523, Japan
    Am J Med Genet C Semin Med Genet 117:57-65. 2003
    ..Although clinical manifestations of KMS are well established, its natural history, useful for genetic counseling, remains to be studied...
  19. pmc Translational mechanisms at work in the cohesinopathies
    Jennifer L Gerton
    The Stowers Institute for Medical Research, Kansas City, MO, USA
    Nucleus 3:520-5. 2012
    ..By considering this possibility we can more fully evaluate causes and treatments for the cohesinopathies...
  20. pmc Sh3pxd2b mice are a model for craniofacial dysmorphology and otitis media
    Bin Yang
    Department of Oral and Maxillofacial Surgery, Guanghua School of Stomatology, Sun Yat Sen University, Guangzhou, China
    PLoS ONE 6:e22622. 2011
    ..The mouse model with a mutation in the Sh3pxd2b gene (Sh3pxd2b(nee)) mirrors craniofacial dysmorphology and otitis media in humans...
  21. pmc Craniofacial abnormalities result from knock down of nonsyndromic clefting gene, crispld2, in zebrafish
    Qiuping Yuan
    Department of Pediatrics, University of Texas Medical School at Houston, Houston, Texas, USA
    Genesis 50:871-81. 2012
    ..These data provide support for a role of CRISPLD2 in NSCLP...
  22. pmc Inhibition of gap junction communication at ectopic Eph/ephrin boundaries underlies craniofrontonasal syndrome
    Alice Davy
    Program in Developmental Biology, Division of Basic Sciences, Fred Hutchinson Cancer Research Center, Seattle, Washington, USA
    PLoS Biol 4:e315. 2006
    ..Our results uncover a novel role for Eph/ephrins in regulating GJC in vivo and suggest that the pleiotropic defects seen in CFNS patients are due to improper regulation of GJC in affected tissues...
  23. ncbi A novel functional role of iduronate-2-sulfatase in zebrafish early development
    Enrico Moro
    Department of Biology, University of Padova, Padova, Italy
    Matrix Biol 29:43-50. 2010
    ..Our results provide an insight into the early biological impairments underlying the Hunter syndrome and suggest the use of zebrafish as a novel tool to better understand lysosomal storage disorder pathogenesis...
  24. pmc A primary cilia-dependent etiology for midline facial disorders
    Samantha A Brugmann
    Department of Surgery, Division of Plastic and Reconstructive Surgery, Stanford University, Stanford, CA 94305, USA
    Hum Mol Genet 19:1577-92. 2010
    ..These data also raise the possibility that genes encoding ciliary proteins are candidates for human conditions of hypertelorism and FNDs...
  25. pmc Fuz regulates craniofacial development through tissue specific responses to signaling factors
    Zichao Zhang
    Institute of Biosciences and Technology, Texas A and M Health Science Center, Houston, Texas, United States of America
    PLoS ONE 6:e24608. 2011
    ..These data demonstrate a new model for coordination of Hh and Wnt signaling and reveal a Fuz-dependent negative feedback loop controlling Wnt/β-catenin signaling...
  26. ncbi Frank-ter Haar syndrome with unusual clinical features
    Munis Dundar
    Erciyes University, Medical Faculty, Department of Medical Genetics, Talas Cad, 38039 Kayseri, Turkey
    Eur J Med Genet 52:247-9. 2009
    ..Hypopigmented areas in hair, bilateral adducted thumb, bilateral contractures in elbows and pelvic limb, atrial septal defect have not been described previously in the literature. Our patient also had double-outlet right ventricle...
  27. pmc Altered chondrocyte differentiation and extracellular matrix homeostasis in a zebrafish model for mucolipidosis II
    Heather Flanagan-Steet
    Complex Carbohydrate Research Center, University of Georgia, Athens, 30602, USA
    Am J Pathol 175:2063-75. 2009
    ..These findings highlight the potential of the zebrafish system in studying lysosomal disease pathogenesis...
  28. ncbi A Gja1 missense mutation in a mouse model of oculodentodigital dysplasia
    Ann M Flenniken
    Centre for Modeling Human Disease, Samuel Lunenfeld Research Institute, Mount Sinai Hospital, Toronto, Ontario M5G 1X5, Canada
    Development 132:4375-86. 2005
    ..Thus, these mice represent an experimental model with which to explore the clinical manifestations of ODDD and to evaluate potential intervention strategies...
  29. ncbi Physical and genetic interactions between Alx4 and Cart1
    S Qu
    Department of Biochemistry, Vanderbilt University, Nashville, TN 37232, USA
    Development 126:359-69. 1999
    ..Interpreted in the context of the biochemical characterization, the genetic analysis suggests that Alx4 and Cart1 are indeed functionally redundant, and reveal both unique and redundant functions for these genes in development...
  30. pmc Sox9 function in craniofacial development and disease
    Young Hoon Lee
    Department of Oral Anatomy, School of Dentistry and Institute of Oral Biosciences, Chonbuk National University, Jeonju, South Korea
    Genesis 49:200-8. 2011
    ..We also discuss the mutations in and around SOX9 responsible for craniofacial defects in CD patients...
  31. ncbi Mice lacking link protein develop dwarfism and craniofacial abnormalities
    H Watanabe
    Craniofacial Developmental Biology and Regeneration Branch, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, Maryland 20892, USA
    Nat Genet 21:225-9. 1999
    ..These results indicate that LP is important for the formation of proteoglycan aggregates and normal organization of hypertrophic chondrocytes, and suggest that cartilage matrix has a role in chondrocyte differentiation and maturation...
  32. pmc Expression of Gja1 correlates with the phenotype observed in oculodentodigital syndrome/type III syndactyly
    R Richardson
    J Med Genet 41:60-7. 2004
  33. ncbi Pinch1 is required for normal development of cranial and cardiac neural crest-derived structures
    Xingqun Liang
    Department of Medicine, University of California at San Diego, La Jolla, CA 92093 0613, USA
    Circ Res 100:527-35. 2007
    ..Together, our results demonstrate that Pinch1 plays an essential role in neural crest development, perhaps in part through transforming growth factor-beta signaling...
  34. ncbi What's new in the neuro-cardio-facial-cutaneous syndromes?
    Ellen Denayer
    Department of Human Genetics, Catholic University of Leuven, Herestraat 49, 3000, Leuven, Belgium
    Eur J Pediatr 166:1091-8. 2007
    ..Undoubtedly more genes causing related syndromes will be discovered in the near future since there are still a substantial number of genes in the pathway that are not yet associated with a known syndrome...
  35. pmc Craniofacial ciliopathies: A new classification for craniofacial disorders
    Samantha A Brugmann
    Department of Plastic and Reconstructive Surgery, Stanford University, Stanford, California 94305, USA
    Am J Med Genet A 152:2995-3006. 2010
    ..Finally, we propose that some non-classified disorders may now be classified as craniofacial ciliopathies...
  36. ncbi Head circumference is an independent clinical finding associated with autism
    J H Miles
    Division of Medical Genetics, The Children s Hospital, University of Missouri Columbia, 65212, USA
    Am J Med Genet 95:339-50. 2000
    ..The microcephalic patients were more likely to have abnormal physical morphology, structural brain malformations, lower IQ, and seizures. Their sex ratio was closer to normal, and their relatives had a higher incidence of seizures...
  37. ncbi Cranial and cardiac neural crest defects in endothelin-A receptor-deficient mice
    D E Clouthier
    Howard Hughes Medical Institute, Department of Molecular Genetics, University of Texas Southwestern Medical Center at Dallas, Dallas, Texas 75235, USA
    Development 125:813-24. 1998
    ..These observations define a novel genetic pathway for inductive communication between cephalic neural crest cells and their environmental counterparts...
  38. ncbi On macrocephaly, epilepsy, autism, specific facial features, and mental retardation
    Carlos Eduardo Steiner
    Am J Med Genet A 120:564-5. 2003
  39. ncbi Expanding the neurologic phenotype of oculodentodigital dysplasia in a 4-generation Hispanic family
    Claudia Amador
    Department of Neurology, Hospital Escuela, Tegucigalpa, Honduras
    J Child Neurol 23:901-5. 2008
    ..These findings expand the neurologic phenotype and prognosis and underscore the importance of counseling families with oculodentodigital dysplasia about the possibility of neurologic involvement...
  40. pmc Structure and functional studies of N-terminal Cx43 mutants linked to oculodentodigital dysplasia
    Qing Shao
    Department of Anatomy and Cell Biology, University of Western Ontario, London, ON N6A 5C1, Canada
    Mol Biol Cell 23:3312-21. 2012
    ..Collectively, these studies suggest that the nature of the mutation conveys loss of Cx43 function by distinctly different mechanisms that are rooted in the structure of the N-terminal region...
  41. ncbi Mapping of the autosomal recessive (AR) craniometaphyseal dysplasia locus to chromosome region 6q21-22 and confirmation of genetic heterogeneity for mild AR spondylocostal dysplasia
    P Iughetti
    Departamento de Biologia, Departamento de Biologia, Instituto de Biociencias, Universidade de Sao Paulo, Sao Paulo, Brazil
    Am J Med Genet 95:482-91. 2000
    ....
  42. ncbi Craniometaphyseal dysplasia associated with obstructive sleep apnoea syndrome
    S Mintz
    Nova Southeastern University, College of Dental Medicine, 3200 South University Drive, Fort Lauderdale, FL 33328, USA
    Dentomaxillofac Radiol 33:262-6. 2004
    ..The literature and differential diagnoses are reviewed...
  43. ncbi Specification and morphogenesis of the zebrafish larval head skeleton
    C B Kimmel
    Institute of Neuroscience, 1254 University of Oregon, Eugene, Oregon 97403 1254, USA
    Dev Biol 233:239-57. 2001
    ..We hypothesize that Endothelin-1 also is an upstream organizer of the patterns of cellular interactions during cartilage morphogenesis...
  44. ncbi Autosomal recessive GJA1 (Cx43) gene mutations cause oculodentodigital dysplasia by distinct mechanisms
    Tao Huang
    Department of Anatomy and Cell Biology, University of Western Ontario, London ON N6A 5C1, Canada
    J Cell Sci 126:2857-66. 2013
    ....
  45. ncbi Enabling an unimpeded surgical approach to the skull base in patients with cranial hyperostosis, exemplarily demonstrated for craniometaphyseal dysplasia
    Philipp Juergens
    Department of Cranio Maxillofacial Surgery, University Hospital Basel, University of Basel, Switzerland
    J Neurosurg 115:528-35. 2011
    ..Skull bone more than 50 mm thick in some regions was reduced to physiological thickness. The patient was thus in a stage that neurosurgical interventions could be performed with a regular risk within a reasonable time of treatment...
  46. ncbi Differential potency of dominant negative connexin43 mutants in oculodentodigital dysplasia
    Xiang Qun Gong
    Department of Physiology and Pharmacology, University of Western Ontario, London, Ontario N6A 5C1, Canada
    J Biol Chem 282:19190-202. 2007
    ..The potency difference in the dominant negative properties of ODDD-linked Cx43 mutants may have clinical implications for the various symptoms and disease severity observed in ODDD patients...
  47. ncbi Function of Rieger syndrome gene in left-right asymmetry and craniofacial development
    M F Lu
    Alkek Institute of Biosciences and Technology, Center for Cancer Biology and Nutrition, Texas A and M University System Health Science Center, Houston 77030, USA
    Nature 401:276-8. 1999
    ..These data reveal a critical role for pitx2 in left-right asymmetry but indicate that pitx2 may function at an intermediate step in cardiac morphogenesis and embryonic rotation...
  48. ncbi Genomic organization of the human fibroblast growth factor receptor 2 (FGFR2) gene and comparative analysis of the human FGFR gene family
    Y Zhang
    Center for Genomic Sciences, Allegheny University of the Health Sciences, 320 East North Avenue, 10th Floor, Pittsburgh, PA 15212, USA
    Gene 230:69-79. 1999
    ....
  49. ncbi Craniofacial abnormalities in Hutchinson-Gilford progeria syndrome
    N J Ullrich
    Department of Neurology, Children s Hospital Boston, Harvard Medical School, Boston, MA 02115, USA
    AJNR Am J Neuroradiol 33:1512-8. 2012
    ..Our goal was to expand the scope of structural bone and soft-tissue craniofacial abnormalities in HGPS through CT or MR imaging...
  50. ncbi Foramen magnum decompression and expansile duroplasty for acquired Chiari type I malformation in craniometaphyseal dysplasia
    M D Sewell
    Department of Neurosurgery, St Bartholomew s and The Royal London Hospitals, London, UK
    Br J Neurosurg 22:83-5. 2008
    ..We outline the clinical and radiological features of this condition and describe the surgical management...
  51. pmc Misexpression of Six2 is associated with heritable frontonasal dysplasia and renal hypoplasia in 3H1 Br mice
    Ben Fogelgren
    Department of Anatomy, Biochemistry, and Physiology, University of Hawaii School of Medicine, Honolulu, Hawaii 96822, USA
    Dev Dyn 237:1767-79. 2008
    ..These data suggest a mutation in a novel cis-acting regulatory region inhibits Six2 expression and is associated with frontonasal dysplasia and renal hypoplasia...
  52. ncbi Frontonasal dysplasia in 3H1 Br/Br mice
    Brandeis M McBratney
    Department of Anthropology, Harvard University, Cambridge, Massachusetts
    Anat Rec A Discov Mol Cell Evol Biol 271:291-302. 2003
    ..Furthermore, this mutant should serve as a useful model for examining mechanisms of frontonasal dysplasia...
  53. ncbi Mapping of three translocation breakpoints associated with orofacial clefting within 6p24 and identification of new transcripts within the region
    S J Davies
    The Wellcome Trust Centre for Human Genetics, Oxford, UK
    Cytogenet Genome Res 105:47-53. 2004
    ..The gene has been characterized and orthologues identified in bovine, murine and pufferfish...
  54. ncbi Pharmacological inactivation of the endothelin type A receptor in the early chick embryo: a model of mispatterning of the branchial arch derivatives
    H Kempf
    College de France, INSERM U36, 75005 Paris, France
    Development 125:4931-41. 1998
    ..This strategy can be applied to other ligand-receptor systems and extended to compounds of various chemical and functional natures...
  55. ncbi Variance of landmarks in digital evaluations: comparison between CT-based and conventional digital lateral cephalometric radiographs
    Michael Greiner
    Department of Orthodontics, University Erlangen Nuremberg, 91054 Erlangen, Germany
    J Orofac Orthop 68:290-8. 2007
    ..The aim of this study was to examine whether bony, dental and soft tissue landmarks could be placed in CT-based lateral cephalograms with the same precision as in conventional digital lateral cephalograms...
  56. ncbi Further delineation of Frank-ter Haar syndrome
    Saskia M Maas
    Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands
    Am J Med Genet A 131:127-33. 2004
    ..Here we describe four patients, including three sibs of Turkish descent, with this entity...
  57. ncbi Craniofacial abnormalities in Chinese patients with obstructive and positional sleep apnea
    En Ting Chang
    Chest Department, Buddhist Tzu Chi General Hospital, Hualien, Taiwan, ROC
    Sleep Med 9:403-10. 2008
    ..We wish to determine the variable of craniofacial dimensions in the upper airway that contribute to OSA, and to investigate the significance of craniofacial measurements in positional and non-positional sleep apnea patients...
  58. ncbi Genotype-phenotype correlation in patients suspected of having Sotos syndrome
    Lonneke de Boer
    Department of Pediatrics, Leiden University Medical Center, Leiden, The Netherlands
    Horm Res 62:197-207. 2004
    ..We wanted to evaluate the genotype-phenotype correlation in patients suspected of having Sotos syndrome and determine the best discriminating parameters for the presence of a NSD1 gene alteration...
  59. pmc Holoprosencephaly and agnathia spectrum: Presentation of two new patients and review of the literature
    Emily F Kauvar
    Medical Genetics Branch of the National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892 3717, USA
    Am J Med Genet C Semin Med Genet 154:158-69. 2010
    ..This condition results in a constellation of structural cerebral and craniofacial abnormalities. Here we present two new patients and review 30 patients from the literature with HPE and variants of ..
  60. pmc Partial paternal uniparental disomy of chromosome 6 in an infant with neonatal diabetes, macroglossia, and craniofacial abnormalities
    S Das
    Department of Human Genetics, The University of Chicago, Chicago, IL, 60637, USA
    Am J Hum Genet 67:1586-91. 2000
    ..We describe a patient with neonatal diabetes, macroglossia, and craniofacial abnormalities, with partial paternal uniparental disomy of chromosome 6 involving the distal portion of 6q, from 6q24-..
  61. pmc Inhibition of neural crest migration underlies craniofacial dysmorphology and Hirschsprung's disease in Bardet-Biedl syndrome
    Jonathan L Tobin
    Molecular Medicine Unit, UCL Institute of Child Health, 30 Guilford Street, London WC1N 1EH, United Kingdom
    Proc Natl Acad Sci U S A 105:6714-9. 2008
    ..Moreover, this is a previously undescribed method of using characterization of facial dysmorphology as a basis for investigating the pathomechanism of CF development in dysmorphic syndromes...
  62. pmc The podosomal-adaptor protein SH3PXD2B is essential for normal postnatal development
    Mao Mao
    Department of Molecular Physiology and Biophysics, The University of Iowa, Iowa City, IA 52242, USA
    Mamm Genome 20:462-75. 2009
    ..These results identify SH3PXD2B as a podosomal-adaptor protein required for postnatal growth and development, particularly within physiologic contexts involving extracellular matrix regulation...
  63. doi Saving face: rescuing a craniofacial birth defect
    Sonja Jane McKeown
    Nat Med 14:115-6. 2008
  64. ncbi Craniofacial abnormalities in obstructive sleep apnoea: implications for treatment
    P A Cistulli
    Department of Respiratory Medicine, St George Hospital, University of New South Wales, Australia
    Respirology 1:167-74. 1996
    ..Over the last decade there has been a growing recognition that craniofacial abnormalities occur commonly in OSA patients...
  65. ncbi Frank-Ter Haar syndrome in a newborn
    P Femitha
    Department of Pediatrics, Jawaharlal Institute of Postgraduate Medical Education and Research JIPMER, Pondicherry 605 006, India
    Indian J Pediatr 79:1091-3. 2012
    ..It is usually transmitted as autosomal recessive disorder. Only a few cases have been reported in the literature and none from India. The authors report a case with other unusual features and a short review of the condition...
  66. ncbi Management of isolated sagittal synostosis in the absence of scaphocephaly: a series of eight cases
    Daniel G Morritt
    Oxford Craniofacial Unit, John Radcliffe Hospital, Oxford, UK
    Plast Reconstr Surg 126:572-80. 2010
    ..The Oxford Craniofacial Unit has successfully managed eight cases of isolated sagittal synostosis without scaphocephaly. To the authors' knowledge, there have been no reports of this in the literature...
  67. ncbi Mitral valve repair in a patient with Ter Haar Syndrome
    Semih Barlas
    Department of Pediatric Cardiac Surgery, Universal Hospitals Group, German Hospital, Istanbul, Turkey
    J Card Surg 21:488-91. 2006
    ..Ter Haar Syndrome is one of the most deteriorating disorders defined in the medical era. Up to date only ten patients were reported. We present a living patient with Ter Haar Syndrome who has undergone successful mitral valve repair...
  68. pmc Tcof1/Treacle is required for neural crest cell formation and proliferation deficiencies that cause craniofacial abnormalities
    Jill Dixon
    School of Dentistry and Faculty of Life Sciences, University of Manchester, Oxford Road, Manchester M13 9PT, United Kingdom
    Proc Natl Acad Sci U S A 103:13403-8. 2006
    ..Therefore, Tcof1/Treacle is a unique spatiotemporal regulator of ribosome biogenesis, a deficiency that disrupts neural crest cell formation and proliferation, causing the hypoplasia characteristic of TCS craniofacial anomalies...
  69. ncbi CANT1 mutation is also responsible for Desbuquois dysplasia, type 2 and Kim variant
    Tatsuya Furuichi
    Center for Genomic Medicine, RIKEN, Tokyo, Japan
    J Med Genet 48:32-7. 2011
    ..Mutations in the gene that encodes for CANT1 (calcium-activated nucleotidase 1) have been identified in a subset of patients with DD type 1...
  70. pmc Fgfr1 regulates patterning of the pharyngeal region
    Nina Trokovic
    Institute of Biotechnology, Viikki Biocenter, 00014 University of Helsinki, Finland
    Genes Dev 17:141-53. 2003
    ..Our results indicate that Fgfr1 patterns the pharyngeal region to create a permissive environment for neural crest cell migration...
  71. ncbi Restoration of DSCR1 to disomy in the trisomy 16 mouse model of Down syndrome does not correct cardiac or craniofacial development anomalies
    Alexander W Lange
    Division of Molecular Cardiovascular Biology, Children s Medical Center Cincinnati, Cincinnati, Ohio 45229, USA
    Dev Dyn 233:954-63. 2005
    ..These data demonstrate that trisomy of DSCR1 alone does not significantly contribute to developmental defects in Ts16 mice and underscore the complexity of developmental anomalies associated with Down syndrome...
  72. ncbi Expanding the phenotype of craniofrontonasal syndrome: two unrelated boys with EFNB1 mutations and congenital diaphragmatic hernia
    Pradeep C Vasudevan
    Department of Clinical Genetics, Sheffield Children s Hospital, Sheffield, South Yorkshire, UK
    Eur J Hum Genet 14:884-7. 2006
    ..Our cases represent the first in which CDH has been confirmed in males with mutations in EFNB1, highlighting an important role for signalling by ephrin-B1 in the development of the diaphragm...
  73. ncbi Overexpression of Nell-1, a craniosynostosis-associated gene, induces apoptosis in osteoblasts during craniofacial development
    Xinli Zhang
    Dental and Craniofacial Research Institute, University of California at Los Angeles, Los Angeles, California, USA
    J Bone Miner Res 18:2126-34. 2003
    ..Nell-1 modulates calvarial osteoblast differentiation and apoptosis pathways. Nell-1 overexpression disrupts these pathways resulting in craniofacial anomalies such as premature suture closure...
  74. ncbi The therapeutic potential of stem cells in the treatment of craniofacial abnormalities
    Natalie C Jones
    Stowers Institute for Medical Research, Kansas City, MO 64110, USA
    Expert Opin Biol Ther 4:645-57. 2004
    ....
  75. ncbi Specific and redundant functions of Gli2 and Gli3 zinc finger genes in skeletal patterning and development
    R Mo
    Program in Developmental Biology and Division of Endocrinology, Research Institute, The Hospital for Sick Children, Toronto, Ontario, Canada
    Development 124:113-23. 1997
    ..The role of Gli2 and Gli3 in Hedgehog signaling during skeletal development is discussed...
  76. pmc Requirement for the lpA1 lysophosphatidic acid receptor gene in normal suckling behavior
    J J Contos
    Department of Pharmacology, Neuroscience Graduate Program, Biomedical Sciences Program, School of Medicine, University of California, San Diego, La Jolla, CA 92093 0636, USA
    Proc Natl Acad Sci U S A 97:13384-9. 2000
    ..Our results provide evidence that endogenous lysophospholipid signaling requires an lp receptor gene and indicate that LPA signaling through the LP(A1) receptor is required for normal development of an inborn, neonatal behavior...
  77. ncbi The role of sonic hedgehog in normal and abnormal craniofacial morphogenesis
    D Hu
    Department of Orthopaedic Surgery, School of Medicine, U 453, University of California at San Francisco, San Francisco, CA 94143 0514, USA
    Development 126:4873-84. 1999
    ....
  78. ncbi Craniofacial, vestibular and bone defects in mice lacking the Distal-less-related gene Dlx5
    D Acampora
    International Institute of Genetic and Biophysics, CNR, Via Marconi 10, Italy
    Development 126:3795-809. 1999
    ..They present a complex phenotype characterised by craniofacial abnormalities affecting derivatives of the first four branchial arches, severe malformations of the vestibular organ, ..
  79. ncbi Role of the Dlx homeobox genes in proximodistal patterning of the branchial arches: mutations of Dlx-1, Dlx-2, and Dlx-1 and -2 alter morphogenesis of proximal skeletal and soft tissue structures derived from the first and second arches
    M Qiu
    Center for Neurobiology and Psychiatry, Department of Psychiatry, University of California at San Francisco, 94143 0984, USA
    Dev Biol 185:165-84. 1997
    ..Finally, the Dlx-2 and Dlx-1 and -2 mutants have ectopic skull components that resemble bones and cartilages found in phylogenetically more primitive vertebrates...
  80. pmc The origin of EFNB1 mutations in craniofrontonasal syndrome: frequent somatic mosaicism and explanation of the paucity of carrier males
    Stephen R F Twigg
    Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, OX3 9DS, United Kingdom
    Am J Hum Genet 78:999-1010. 2006
    ..These results highlight the importance of considering possible origins of mutation in the counseling of families with CFNS and provide a generally applicable approach to the combined analysis of mosaic and germline mutations...
  81. ncbi Genetic dissection of Pitx2 in craniofacial development uncovers new functions in branchial arch morphogenesis, late aspects of tooth morphogenesis and cell migration
    Wei Liu
    Alkek Institute of Biosciences and Technology, Texas A and M System Health Science Center, 2121 Holcombe Blvd, Houston, TX 77030, USA
    Development 130:6375-85. 2003
    ..Moreover, our results uncover a new function of Pitx2 in regulation of cell motility in craniofacial development...
  82. ncbi Phenotypic variability in 49 cases of ESCO2 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes the clinical criteria for Roberts syndrome
    H Vega
    Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine of City University of New York, New York, NY 10029, USA
    J Med Genet 47:30-7. 2010
    ..Genotype-phenotype analysis has been hampered by limited numbers of patients with clinical information available...
  83. ncbi Severe nasal clefting and abnormal embryonic apoptosis in Alx3/Alx4 double mutant mice
    A Beverdam
    Hubrecht Laboratory, Netherlands Institute for Developmental Biology, PO Box 85164, 3508AD Utrecht, The Netherlands
    Development 128:3975-86. 2001
    ..Compound mutants of Alx3 and Alx4, however, show severe craniofacial abnormalities that are absent in Alx4 single mutants. Alx3/Alx4 double mutant newborn mice have cleft nasal regions...
  84. pmc A zebrafish model of Roberts syndrome reveals that Esco2 depletion interferes with development by disrupting the cell cycle
    Maren Mönnich
    Department of Pathology, Dunedin School of Medicine, The University of Otago, Dunedin, New Zealand
    PLoS ONE 6:e20051. 2011
    ..Esco2 depleted zebrafish embryos exhibit features that resemble RBS, including mitotic defects, craniofacial abnormalities and limb truncations...
  85. ncbi Craniofacial surgery in Oman: a preliminary study of 10 cases
    C Thomas
    Department of Plastic and Reconstructive Surgery, Khoula Hospital, Muscat, Sultanate of Oman
    J Craniofac Surg 12:247-52. 2001
    ..These operations were the first of this kind to be done in this part of the world. This article highlights the need for developing craniofacial units in the Gulf region...
  86. ncbi Minor physical anomalies in patients with schizophrenia and their parents: prevalence and pattern of craniofacial abnormalities
    David Gourion
    INSERM E0117, Service Hospitalo Universitaire, Hopital Sainte Anne, 7 rue Cabanis, 75014 Paris, France
    Psychiatry Res 125:21-8. 2004
    ..This revised scale thus appears to be a useful complementary tool in pathophysiological studies aiming at the identification of developmental factors in schizophrenia...
  87. ncbi Genesis of alcohol-induced craniofacial dysmorphism
    Kathleen K Sulik
    Department of Cell and Developmental Biology and Bowles Center for Alcohol Studies, The University of North Carolina, CB 7090, Chapel Hill, North Carolina 27599, USA
    Exp Biol Med (Maywood) 230:366-75. 2005
    ..Among these agents are antioxidants, sonic hedgehog protein, retinoids, and the peptides SAL and NAP...
  88. pmc Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations
    M G Butler
    Section of Medical Genetics and Molecular Medicine, Children s Mercy Hospitals and Clinics, University of Missouri Kansas City School of Medicine, Kansas City, MO, USA
    J Med Genet 42:318-21. 2005
    ..We suggest that PTEN gene testing be considered for patients with autistic behaviour and extreme macrocephaly. The gene findings may impact on recurrence risks as well as medical management for the patient...
  89. pmc Kinesin-2 controls development and patterning of the vertebrate skeleton by Hedgehog- and Gli3-dependent mechanisms
    Elona Kolpakova-Hart
    Department of Developmental Biology, Harvard School of Dental Medicine, Boston, Massachusetts 02115, USA
    Dev Biol 309:273-84. 2007
    ..However, the motor appears to be required for the efficient cleavage of the full-length Gli3 transcription factor into a repressor form...
  90. pmc Frontorhiny, a distinctive presentation of frontonasal dysplasia caused by recessive mutations in the ALX3 homeobox gene
    Stephen R F Twigg
    Weatherall Institute of Molecular Medicine, University of Oxford, Oxford OX3 9DS, UK
    Am J Hum Genet 84:698-705. 2009
    ..We conclude that ALX3 is essential for normal facial development in humans and that deficiency causes a clinically recognizable phenotype, which we term frontorhiny...
  91. ncbi Prenatal diagnosis of Roberts syndrome and detection of an ESCO2 frameshift mutation in a Pakistani family
    Solveig Schulz
    Institute of Human Genetics, Otto von Guericke University Magdeburg, Germany
    Prenat Diagn 28:42-5. 2008
    ..We report two siblings with Roberts syndrome (RBS), and an attempt to delineate the underlying molecular mechanism leading to familial recurrence...
  92. ncbi Goosecoid acts cell autonomously in mesenchyme-derived tissues during craniofacial development
    J A Rivera-Pérez
    Department of Molecular Genetics, The University of Texas M D Anderson Cancer Center, Houston, TX 77030, USA
    Development 126:3811-21. 1999
    ..Thus, the skeletal defects observed in Gsc-null mice may reflect a regional reduction of precursor cells during embryonic development...
  93. ncbi Clinical and molecular aspects of RAS related disorders
    E Denayer
    Department of Human Genetics, Catholic University of Leuven, Herestraat 49, 3000 Leuven, Belgium
    J Med Genet 45:695-703. 2008
    ..Other constitutional disorders caused by mutated RAS pathway genes point to involvement of the RAS-MAPK pathway in immune modulation and vascular development...
  94. ncbi Asymmetrical skull, ptosis, hypertelorism, high nasal bridge, clefting, umbilical anomalies, and skeletal anomalies in sibs: is Carnevale syndrome a separate entity?
    Ali Al Kaissi
    Ludwig Boltzmann Institute of Osteology at the Hanusch Hospital of WGKK and AUVA Trauma Centre Meidling, 4th Medical Department, Hanusch Hospital, Vienna, Austria
    Am J Med Genet A 143:349-54. 2007
    ..Malpuech and Michels syndromes are probably separate entities, although they may still be allelic. Pattern of inheritance of Carnevale syndrome is most likely autosomal recessive...
  95. ncbi Parallels of craniofacial maldevelopment in Down syndrome and Ts65Dn mice
    J T Richtsmeier
    Department of Cell Biology and Anatomy, The Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA
    Dev Dyn 217:137-45. 2000
    ..This evolutionary conservation further establishes the mouse as a valid model for a wide range of syndromes producing craniofacial maldevelopment...
  96. pmc Inactivating mutations in ESCO2 cause SC phocomelia and Roberts syndrome: no phenotype-genotype correlation
    Birgitt Schule
    Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305 5323, USA
    Am J Hum Genet 77:1117-28. 2005
    ..for SC, we studied three families with SC and two families in which variable degrees of limb and craniofacial abnormalities, detected by fetal ultrasound, led to pregnancy terminations. All cases were positive for HR...
  97. ncbi Thymus, kidney and craniofacial abnormalities in Six 1 deficient mice
    Christine Laclef
    Departement Genetique, Developpement et Pathologie Moleculaire, Universite Paris V, 24 rue du Faubourg Saint Jacques, 75014 Paris, France
    Mech Dev 120:669-79. 2003
    ..Pax gene mutations also lead to comparable phenotypes, suggesting that a regulatory network including the Pax, Six and Eya genes is required for several types of organogenesis in mammals...
  98. ncbi Phenotypic variability of the cat eye syndrome. Case report and review of the literature
    P R Rosias
    Department of Pediatrics, Atrium Medical Centre, Heerlen, The Netherlands
    Genet Couns 12:273-82. 2001
    ..Preauricular skin tags and/or pits are the most consistent features, and suggest the presence of a supernumerary bisatellited marker chromosome 22 derived from duplication of the CES critical region...
  99. pmc Mutation screening of the PTEN gene in patients with autism spectrum disorders and macrocephaly
    Joseph D Buxbaum
    Laboratory of Molecular Neuropsychiatry, Mount Sinai School of Medicine, New York, New York, USA
    Am J Med Genet B Neuropsychiatr Genet 144:484-91. 2007
    ..Screening of PTEN mutations is warranted in patients with autism and pronounced macrocephaly, even in the absence of other features of PTEN-related tumor syndromes...
  100. ncbi Increasing knowledge of PTEN germline mutations: Two additional patients with autism and macrocephaly
    Gail E Herman
    Center for Molecular and Human Genetics, Columbus Children Research Institute, The Ohio State University, Columbus, Ohio, USA
    Am J Med Genet A 143:589-93. 2007
    ..Our findings extend those of Butler et al. and suggest that PTEN gene sequencing should be included in the genetic evaluation of this subset of autistic individuals...
  101. ncbi FISH of supernumerary marker chromosomes (SMCs) identifies six diagnostically relevant intervals on chromosome 22q and a novel type of bisatellited SMC(22)
    Oliver Bartsch
    Institute for Human Genetics, Mainz University School of Medicine, Mainz, Germany
    Eur J Hum Genet 13:592-8. 2005
    ..In this study, we found six distinct intervals on 22q to be relevant for FISH diagnostics. We propose to characterize SMCs(22) using DNA probes corresponding to these intervals...

Research Grants63

  1. 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...
  2. SKI-Regulated Networks in Facial and Skull Defects
    Clemencia Colmenares; Fiscal Year: 2006
    ..The craniofacial abnormalities in Ski-null mice correctly predicted the involvement of human Ski in 1p36 deletion syndrome, a human ..
  3. The role of IFT80 in bone formation
    Shuying Yang; Fiscal Year: 2013
    ..to the base of the cilia, and disruption of this gene in mice results in a variety of skeletal and craniofacial abnormalities as well as alterations in the teeth and nails...
  4. Function and regulation of Lhx genes in craniofacial development
    Juhee Jeong; Fiscal Year: 2010
    b>Craniofacial abnormalities involving the first branchial arch derivatives, including the jaw, palate and teeth, are a major class of birth defects in humans...
  5. Characterization of cranial dermal bone-specific miRNAs
    ARKHAT ABZHANOV; Fiscal Year: 2012
    ..RELEVANCE Craniofacial abnormalities and syndromes are some of the most common birth defects that are often associated with severe ..
  6. GENOME FUNCTION IN MOUSE WITH COMBINATION MUTAGENESIS
    John Schimenti; Fiscal Year: 2009
    ..to proliferate;abnormal placental formation;gastrulation defects;homeotic-like skeletal transformations;craniofacial abnormalities;and cardiovascular defects...
  7. 2012 Craniofacial Morphogenesis &Tissue Regeneration GRS &GRC
    Robert E Maxson; Fiscal Year: 2012
    DESCRIPTION (provided by applicant): Craniofacial abnormalities are common birth defects, accounting for approximately one third of all congenital anomalies. They are also a major cause of infant mortality...
  8. Novel Six1 co-factors and their role in placode development
    KAREN MARY NEILSON; Fiscal Year: 2010
    ..In humans, two congenital defects characterized by craniofacial abnormalities and hearing loss (branchio-otic and branchio-otic-renal syndromes) are caused by mutations in SIX genes ..
  9. Regulation of Craniofacial Skeletal Development by Jab1
    Guang Zhou; Fiscal Year: 2010
    DESCRIPTION (provided by applicant): Craniofacial abnormalities represent a broad and complex class of birth defects and understanding their genetic basis is essential for their diagnosis and treatment...
  10. The role of PHD12 in epigenetic control of cranial neural crest EMT
    Pablo Hernan Strobl Mazzulla; Fiscal Year: 2013
    ..Therefore, craniofacial abnormalities are usually attributed to problems in neural crest cell development and depending of which phase of ..
  11. Craniofacial Morphogenesis and Tissue Regeneration Gordon Research Conference
    Paul A Trainor; Fiscal Year: 2010
    DESCRIPTION (provided by applicant): Craniofacial abnormalities account for approximately one third of all congenital birth defects, are a major cause of infant mortality and dramatically impact upon national health care budgets...
  12. The Importance of Prolyl 3-hydroxylation in recessive Osteogenesis Imperfecta
    ERICA PAIGE HOMAN; Fiscal Year: 2013
    ..study the molecular pathogenesis of recessive osteogenesis imperfecta (OI)- a brittle bone disease with craniofacial abnormalities. Morello et. al...
  13. Definition of chromosomal abnormalities by next generation sequencing
    Nara Sobreira; Fiscal Year: 2012
    ..is segregating an apparently balanced t(2;3)(p15;q12) translocation over 3 generations associated with craniofacial abnormalities;the second (patient JHU2010) has a t(2;6)(q22;p12...
  14. Regulation of ADAM13 function during cranial neural crest migration
    Genevieve Abbruzzese; Fiscal Year: 2013
    ..Failure of these cells to migrate to the correct locations can result in severe craniofacial abnormalities at birth, yet there is a significant gap in our knowledge of how to prevent or treat these defects...
  15. MAGNETIC RESONANCE AND DIFFUSION TENSOR IMAGING OF A MOUSE FASD MODEL U01
    Kathleen K Sulik; Fiscal Year: 2011
    ..Alcohol Spectrum Disorders (FASD), significant components of which are Central Nervous System (CMS) and craniofacial abnormalities, are a major public health problem...
  16. Regulatory role and signaling mechanism of R-spondin in craniofacial development
    Jeong K Yoon; Fiscal Year: 2012
    b>Craniofacial abnormalities, which are primarily the result of abnormal craniofacial skeletal formation, are one of the most abundant human disorders. For instance, cleft palate occurs at a rate of 1 out of 1,000 newborns...
  17. CELLULAR AND MOLECULAR BASIS OF MELANOCYTE MORPHOGENESIS
    CAROL ERICKSON; Fiscal Year: 2009
    ..give rise to a host of birth defects and developmental abnormalities, such as pigmentation defects, craniofacial abnormalities, colon defects, including Hirschsprung's disease, and a vast array of cardiac and great vessel ..
  18. Identifying non-histone targets of the neural crest methyltransferase NSD3
    DANIEL A KRETZSCHMAR; Fiscal Year: 2013
    ..that migrate over long distances, form an impressive array of cell types, and are defective in diverse craniofacial abnormalities. Prenatal supplementation with folate, a cofactor in the methylation cycle, can reduce the incidence of ..
  19. FETAL ALCOHOL SPECTRUM DISEASE IN LOW INCOME COUNTRIES
    Na Na; Fiscal Year: 2012
    ..alcohol exposure is fetal alcohol syndrome (FAS), a devastating developmental disorder characterized by craniofacial abnormalities, growth retardation, and nervous system impairments that may include mental retardation...
  20. Using Arabidopsis to uncover new roles for peroxins
    Bonnie Bartel; Fiscal Year: 2012
    ..fatal in infancy and are characterized by severe mental retardation, neuronal migration defects, craniofacial abnormalities, and other symptoms...
  21. The role of RhoA and its targets in craniofacial cartilage morphogenesis
    BARBARA SISSON; Fiscal Year: 2010
    ..b>Craniofacial abnormalities pose an enormous burden to the individual, their families and the health care system as a whole...
  22. Identification of Loci Governing Craniofacial Abnormalities Using a Natural Model
    JOSHUA BENJAMIN GROSS; Fiscal Year: 2013
    ..goal of my research program is to identify and functionally validate the loci causing this spectrum of craniofacial abnormalities in our natural model system, Astyanax mexicanus...
  23. PREVENTION OF X-RAY INDUCED MALFORMATIONS
    MARVIN SODICOFF; Fiscal Year: 1990
    ..Defects typically affect the head resulting in craniofacial abnormalities e.g...
  24. REGULATION OF CRANIALSUTURE MORPHOGENESIS
    Roy Ogle; Fiscal Year: 2002
    ..the Applicant's Abstract): Premature fusion of the cranial sutures is the primary cause of many severe craniofacial abnormalities. The long term goal of this project is to understand how cranial sutures develop and resist osseous ..
  25. Technology Project: Shape-Based Retrieval of 3D Craniofacial Data
    Linda Shapiro; Fiscal Year: 2013
    ..of these tools and a pilot system will lead to a general methodology that is immediately applicable to studies of mid-face hypoplasia, cleft lip and cleft palate, but is also scalable and modifiable to all craniofacial abnormalities.
  26. Healing of Craniofacial Defects using Adipose-Derived Stem Cells
    Patricia A Zuk; Fiscal Year: 2013
    ..Such a strategy, if successful, may also have applicability to other common craniofacial abnormalities in children thus decreasing the substantial financial burden imposed each year on the US medical system.
  27. Jagged-Notch and Fgf signaling: patterning the vertebrate upper face
    ELIZABETH ZUNIGA-SANCHEZ; Fiscal Year: 2012
    DESCRIPTION (provided by applicant): Craniofacial abnormalities are the most common human birth defects, and yet little is known about the developmental basis that leads to mispatterning of the face...
  28. Craniofacial defects in ethanol-exposed zebrafish
    Sara Ahlgren; Fiscal Year: 2004
    b>Craniofacial abnormalities are characteristic of embryonic exposure to alcohol. In typical fetal alcohol syndrome poor development of a number of facial features, all of which are derived from the cranial neural crest, is observed...
  29. Fetal Ethanol Effects on the Peripheral Nervous System
    Mary Johnson; Fiscal Year: 2004
    ..The most recognizable child with fetal alcohol syndrome (FAS) has growth retardation, craniofacial abnormalities and central nervous system (CNS) dysfunction, but represents only a portion of those children exposed to ..
  30. Role of Angiogenesis During Distraction Osteogenesis
    ROBERTO CARVALHO; Fiscal Year: 2004
    The treatment and correction of dentoalveolar malocclusions and osseous craniofacial abnormalities is based primarily on the application of mechanically-generated forces...
  31. FOLATE AND HOX GENES IN CRANIOFACIAL DEVELOPMENT
    Claudia Kappen; Fiscal Year: 2003
    ..Folate supplementation protects against craniofacial abnormalities, indicating a functional interaction with developmental pathways...
  32. BRAIN STRUCTURE/FUNCTION IN OROFACIAL CLEFTING DISORDERS
    Peggy Nopoulos; Fiscal Year: 2003
    Clefts of the lip and palate are developmental craniofacial abnormalities that result from a failure of neural crest cells to migrate properly...
  33. Roles of miRNAs in dermal bone development
    ARKHAT ABZHANOV; Fiscal Year: 2009
    DESCRIPTION (provided by applicant): Craniofacial abnormalities are some of the most common structural birth defects that are often associated with developmental disabilities, abnormalities to brain maturation, hearing loss, functional ..
  34. ROBERTS SYNDROME: EXAMINATION OF CHROMOSOME STABILITY
    Roger Schultz; Fiscal Year: 1999
    ..disease is clinically manifested by mental and growth retardation, tetraphocomelia, and variable craniofacial abnormalities. Cell lines derived from RS patients exhibit cytogenetic abnormalities which include random chromosome ..
  35. Tissue Engineering in Congenital Craniofacial Defects
    Jennifer Elisseeff; Fiscal Year: 2009
    ..of this research is to develop tissue engineering strategies for the understanding and treatment of craniofacial abnormalities. This proposal is both hypothesis and design driven...
  36. Apoptosis in the ethanol exposed neonatal brain
    LORA WATTS; Fiscal Year: 2004
    ..are a number of deficits which occur such as prenatal and postnatal deficiencies, microcephaly, and craniofacial abnormalities. While we do not know the underlying mechanism of enhanced cell death in the ethanol exposed fetal brain,..
  37. Individual Predoctoral Dental Scientist Fellowship
    ERIC HARRINGTON; Fiscal Year: 2005
    ..interests are directed toward cartilage development and the genetic basis for chondrodysplasias, craniofacial abnormalities, and other genetic defects in human cartilage and bone development...
  38. GENETIC & ENVIRONMENTAL DETERMINANTS OF CRANIOFACIAL DIS
    Brendan Lee; Fiscal Year: 2005
    ..This is the case for hydrolethalus and Meckel syndrome, which are characterized by CNS, craniofacial abnormalities, and polydactyly. They have been mapped to human chromosomes 11 and 17, respectively...
  39. Genes in X-linked Ectodermal Dysplasia Receptor
    PREET CHAUDHARY; Fiscal Year: 2006
    ..In the long-term these studies may lead to better diagnosis and treatment of ectodermal dysplasias and craniofacial abnormalities.
  40. CENTER FOR CRANIOFACIAL DEVELOPMENT AND DISORDERS
    ETHYLIN JABS; Fiscal Year: 2003
    ..b>Craniofacial abnormalities compose a large and heterogeneous group of human malformations...
  41. Development of the Vertebrate Primary Mouth
    Hazel Sive; Fiscal Year: 2007
    ..This study will add insight into the genetic basis of craniofacial abnormalities, focusing on a crucial structure. [unreadable] [unreadable] [unreadable]
  42. MAPPING THE TREACHER COLLINS SYNDROME LOCUS
    ETHYLIN JABS; Fiscal Year: 1990
    Treacher Collins syndrome is an autosomal dominant condition characterized by bilateral craniofacial abnormalities. Clinical findings include malar hypoplasia, downslanting palpebral fissures, lower lid coloboma, and dysplastic ears...
  43. Identification of Behavioral Genes From DEL22Q11
    Elizabeth Illingworth; Fiscal Year: 2006
    ..abnormal development of the pharyngeal arch system, namely, cardiovascular, thyrnic, parathyroid and craniofacial abnormalities. However, in addition, del22q11 syndrome patients have behavioral and neuropsychiatric problems, which ..
  44. 10th International Meeting Chromosome 21 & Down Syndrome
    Paul Yarowsky; Fiscal Year: 2002
    ..Down syndrome, the neurobiology of Down syndrome, congenital heart defects, immune deficits, leukemia, craniofacial abnormalities, communicative and digestive disorders, and premature aging, as well as genomic research, transgenic ..
  45. Effects of alcohol on neuronal cell migration
    Hitoshi Komuro; Fiscal Year: 2005
    ..Recognized by characteristic craniofacial abnormalities and growth deficiency, this condition includes severe alcohol-induced damage to the developing brain...
  46. Molecular basis of the craniofacial anomalies in SMS
    JAMES LUPSKI; Fiscal Year: 2006
    ..2. In addition to craniofacial abnormalities, the clinical features include mental retardation, behavioral problems, and sleep disturbance...
  47. Identifying novel genes involved in craniofacial development
    Bo Yan; Fiscal Year: 2009
    DESCRIPTION (provided by applicant): Craniofacial abnormalities in humans account for about 35% of defects in live births...
  48. Ductin's Role in Craniofacial Patterning and Development
    Dany Adams; Fiscal Year: 2009
    ..We recently discovered that misexpressing wildtype ductin in Xenopus embryos leads to craniofacial abnormalities, as does expressing a dominant negative ductin or injecting antiductin antibodies...
  49. P63 IN EPITHELIAL CELL PROLIFERATION AND DIFFERENTIATION
    Frank McKeon; Fiscal Year: 2004
    ..These mice show profound defects in all squamous epithelial, as well as dramatic limb and craniofacial abnormalities. The analysis of p63 is complicated by the existence of multiple isotypes that exhibit strikingly ..
  50. Intrinsic vs extrinsic defects in neural crest cell patterning
    Macie Walker; Fiscal Year: 2009
    b>Craniofacial abnormalities constitute up to one third of human congenital birth defects. The majority of these abnormalities arise due to defects in neural crest cell development...
  51. Sleep Apnea in Children with Craniofacial Anomalies
    DEREK LAM; Fiscal Year: 2005
    b>Craniofacial abnormalities frequently result in upper airway compromise and thus appear to be predisposing factors for the development of obstructive sleep apnea...
  52. SIGNAL TRANSDUCTION IN VERTEBRATE EMBRYOGENESIS
    FRANKLIN COSTANTINI; Fiscal Year: 2007
    ..and the neural crest, and it is highly susceptible to genetic and environmental perturbations, as craniofacial abnormalities are among the most common birth defects in humans...
  53. GENETICS OF NON-SYNDROMIC CLEFTING
    Chin To Fong; Fiscal Year: 2001
    ..In this proposal, the principal investigator will define the craniofacial abnormalities in NSC patients and families by imaging and measurement of their craniofacial skeleton, and evaluate the ..
  54. Analysis of perlecan in the skeletal system
    Kathryn Rodgers; Fiscal Year: 2006
    ..Because SJ patients suffer from numerous craniofacial abnormalities in addition to defects in bone arising via endochondrial ossification, it is likely that proper amount ..
  55. Genetic analysis of congenital diaphragmatic hernia
    Anne Slavotinek; Fiscal Year: 2006
    ..abstract_text> ..
  56. 1st Costello Syndrome Symposium
    KATHERINE RAUEN; Fiscal Year: 2007
    ..unreadable] [unreadable] [unreadable]..
  57. Molecular Analysis of Xq28-Linked Incontinentia Pigmenti
    David Nelson; Fiscal Year: 2008
    ..Collectively, the aims of this project will help understand the pathogenesis of IP in males, the regulation of the NF-kB signaling pathway, the regulation of NEMO expression, and the nature of the two NEMO copies. ..
  58. Oral Health Status and Habits of Young Children with Developmental Delay
    Charlotte Lewis; Fiscal Year: 2008
    ..unreadable] [unreadable] [unreadable]..
  59. Face Overgeneralization, Prejudice, and Stereotypes
    LESLIE ZEBROWITZ; Fiscal Year: 2006
    ..It also suggests novel interventions for reducing prejudice. ..
  60. ENHANCED EVALUATION OF FETAL CNS WITH ULTRAFAST MRI
    Deborah Levine; Fiscal Year: 2002
    ..Thus the results of this study could significantly decrease morbidity of fetuses with ventriculomegaly. ..
  61. Quality of Life of Overweight Youth: Multicultural View
    Donald Patrick; Fiscal Year: 2008
    ..unreadable] [unreadable] [unreadable] [unreadable] [unreadable] [unreadable]..