hirschsprung disease

Summary

Summary: Congenital MEGACOLON resulting from the absence of ganglion cells (aganglionosis) in a distal segment of the LARGE INTESTINE. The aganglionic segment is permanently contracted thus causing dilatation proximal to it. In most cases, the aganglionic segment is within the RECTUM and SIGMOID COLON.

Top Publications

  1. ncbi A common sex-dependent mutation in a RET enhancer underlies Hirschsprung disease risk
    Eileen Sproat Emison
    McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA
    Nature 434:857-63. 2005
  2. ncbi Hirschsprung disease, associated syndromes and genetics: a review
    J Amiel
    Université Paris 5 Descartes, Faculte de Medecine, INSERM U 781, AP HP, Hopital Necker Enfant Malades, Paris, France
    J Med Genet 45:1-14. 2008
  3. ncbi Enteric nervous system development and Hirschsprung's disease: advances in genetic and stem cell studies
    Tiffany A Heanue
    Division of Molecular Neurobiology, MRC National Institute for Medical Research, The Ridgeway, Mill Hill, London NW7 1AA, UK
    Nat Rev Neurosci 8:466-79. 2007
  4. pmc Genome-wide copy number analysis uncovers a new HSCR gene: NRG3
    Clara Sze Man Tang
    Department of Surgery, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, China
    PLoS Genet 8:e1002687. 2012
  5. pmc Differential contributions of rare and common, coding and noncoding Ret mutations to multifactorial Hirschsprung disease liability
    Eileen Sproat Emison
    Center for Complex Disease Genomics, McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
    Am J Hum Genet 87:60-74. 2010
  6. ncbi Reduced RET expression in gut tissue of individuals carrying risk alleles of Hirschsprung's disease
    Xiaoping Miao
    Department of Epidemiology and Biostatistics, School of Public Health, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China
    Hum Mol Genet 19:1461-7. 2010
  7. ncbi Developmental determinants of the independence and complexity of the enteric nervous system
    Michael D Gershon
    Department of Pathology and Cell Biology, Columbia University, College of Physicians and Surgeons, 630 West 168th Street, New York, NY 10032, USA
    Trends Neurosci 33:446-56. 2010
  8. pmc Characterisation and transplantation of enteric nervous system progenitor cells
    Sarah Almond
    Institute of Child Health, Royal Liverpool University Children s Hospital, Alder Hey, Liverpool, UK
    Gut 56:489-96. 2007
  9. ncbi Genetics of Hirschsprung disease
    M A Parisi
    Department of Pediatrics, Children s Hospital and Regional Medical Center, Seattle, Washington, USA
    Curr Opin Pediatr 12:610-7. 2000
  10. pmc Postnatal intestinal engraftment of prospectively selected enteric neural crest stem cells in a rat model of Hirschsprung disease
    Y H Tsai
    Department of Pediatrics, University of Michigan Medical School, Ann Arbor, MI, USA
    Neurogastroenterol Motil 23:362-9. 2011

Detail Information

Publications317 found, 100 shown here

  1. ncbi A common sex-dependent mutation in a RET enhancer underlies Hirschsprung disease risk
    Eileen Sproat Emison
    McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA
    Nature 434:857-63. 2005
    ..b>Hirschsprung disease (HSCR) is a multifactorial, non-mendelian disorder in which rare high-penetrance coding sequence mutations ..
  2. ncbi Hirschsprung disease, associated syndromes and genetics: a review
    J Amiel
    Université Paris 5 Descartes, Faculte de Medecine, INSERM U 781, AP HP, Hopital Necker Enfant Malades, Paris, France
    J Med Genet 45:1-14. 2008
    b>Hirschsprung disease (HSCR, aganglionic megacolon) represents the main genetic cause of functional intestinal obstruction with an incidence of 1/5000 live births...
  3. ncbi Enteric nervous system development and Hirschsprung's disease: advances in genetic and stem cell studies
    Tiffany A Heanue
    Division of Molecular Neurobiology, MRC National Institute for Medical Research, The Ridgeway, Mill Hill, London NW7 1AA, UK
    Nat Rev Neurosci 8:466-79. 2007
    ..Here we discuss the exciting recent advances, including novel transgenic and genetic tools, a broadening range of model organisms, and the pursuit of ENS stem cells as a therapeutic tool, that are bringing these fields closer together...
  4. pmc Genome-wide copy number analysis uncovers a new HSCR gene: NRG3
    Clara Sze Man Tang
    Department of Surgery, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, China
    PLoS Genet 8:e1002687. 2012
    b>Hirschsprung disease (HSCR) is a congenital disorder characterized by aganglionosis of the distal intestine...
  5. pmc Differential contributions of rare and common, coding and noncoding Ret mutations to multifactorial Hirschsprung disease liability
    Eileen Sproat Emison
    Center for Complex Disease Genomics, McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
    Am J Hum Genet 87:60-74. 2010
    The major gene for Hirschsprung disease (HSCR) encodes the receptor tyrosine kinase RET...
  6. ncbi Reduced RET expression in gut tissue of individuals carrying risk alleles of Hirschsprung's disease
    Xiaoping Miao
    Department of Epidemiology and Biostatistics, School of Public Health, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China
    Hum Mol Genet 19:1461-7. 2010
    ....
  7. ncbi Developmental determinants of the independence and complexity of the enteric nervous system
    Michael D Gershon
    Department of Pathology and Cell Biology, Columbia University, College of Physicians and Surgeons, 630 West 168th Street, New York, NY 10032, USA
    Trends Neurosci 33:446-56. 2010
    ..It is probable that highly prevalent disorders of gastrointestinal sensation and motility result from subtle defects in ENS development...
  8. pmc Characterisation and transplantation of enteric nervous system progenitor cells
    Sarah Almond
    Institute of Child Health, Royal Liverpool University Children s Hospital, Alder Hey, Liverpool, UK
    Gut 56:489-96. 2007
    ..In this paper, we describe a method suitable for the preparation of both mouse and human postnatal ENS progenitor cells and assess their transplantation potential...
  9. ncbi Genetics of Hirschsprung disease
    M A Parisi
    Department of Pediatrics, Children s Hospital and Regional Medical Center, Seattle, Washington, USA
    Curr Opin Pediatr 12:610-7. 2000
    b>Hirschsprung disease (HSCR), or congenital intestinal aganglionosis, is a relatively common disorder of neural crest migration. It has a strong genetic basis, although simple Mendelian inheritance is rarely observed...
  10. pmc Postnatal intestinal engraftment of prospectively selected enteric neural crest stem cells in a rat model of Hirschsprung disease
    Y H Tsai
    Department of Pediatrics, University of Michigan Medical School, Ann Arbor, MI, USA
    Neurogastroenterol Motil 23:362-9. 2011
    ..We investigated the ability of unselected gut cells vs selected enteric neural crest stem cells (eNCSCs) to engraft and differentiate in the postnatal gut in the Hirschsprung disease (HD, ednrb(sl/sl)) rat.
  11. ncbi Association of multiple endocrine neoplasia type 2 and Hirschsprung disease
    G Romeo
    Department of Pediatric Surgery, Instituto G and University of Genoa Medical School, Italy
    J Intern Med 243:515-20. 1998
    In a few patients with Hirschsprung disease (HSCR) and no clinical symptoms of multiple endocrine neoplasia type 2 (MEN-2A) or medullary thyroid carcinoma (MTC), missense mutations in the cysteine residues 609 and 620 of the Ret gene have ..
  12. ncbi Hirschsprung disease in MEN 2A: increased spectrum of RET exon 10 genotypes and strong genotype-phenotype correlation
    R A Decker
    The Charlie Hays Division of Cancer Research, The Decker Foundation, 7536 Forsyth Boulevard, St Louis, MO 63105, USA
    Hum Mol Genet 7:129-34. 1998
    ..2B (MEN 2A and MEN 2B) and familial medullary thyroid carcinoma (FMTC), as well as some cases of familial Hirschsprung disease (HSCR1)...
  13. ncbi Genetic basis of Hirschsprung's disease
    Paul K H Tam
    Division of Paediatric Surgery, Department of Surgery, Queen Mary Hospital, The University of Hong Kong, Pok Fu Lam Road, Hong Kong, People s Republic of China
    Pediatr Surg Int 25:543-58. 2009
    ..This review will focus on the genes known to be involved in HSCR pathology, how they interact, and on how technology advances are being employed to uncover the pathological processes underlying this disease...
  14. ncbi Loss-of-function mutations in SIP1 Smad interacting protein 1 result in a syndromic Hirschsprung disease
    V Cacheux
    INSERM U468 et Service de Biochimie et Génétique, AP HP, Hopital Henri Mondor, 51 Avenue du Marechal de Lattre de Tassigny, 94010 Creteil, France
    Hum Mol Genet 10:1503-10. 2001
    b>Hirschsprung disease (HD) has been described in association with microcephaly, mental retardation and characteristic facial features, delineating a syndrome possibly caused by mutations localized at chromosome 2q22--q23...
  15. ncbi Targeted and natural (piebald-lethal) mutations of endothelin-B receptor gene produce megacolon associated with spotted coat color in mice
    K Hosoda
    Howard Hughes Medical Institute, University of Texas Southwestern Medical Center at Dallas, Dallas 75235 9050
    Cell 79:1267-76. 1994
    ..We postulate that defects in the human EDNRB gene cause a hereditary form of Hirschsprung's disease that has recently been mapped to human chromosome 13, in which EDNRB is located...
  16. ncbi Mutations in SIP1, encoding Smad interacting protein-1, cause a form of Hirschsprung disease
    N Wakamatsu
    Department of Genetics, Central Hospital, Aichi Human Service Center, Kasugai, Aichi, Japan
    Nat Genet 27:369-70. 2001
    b>Hirschsprung disease (HSCR) is sometimes associated with a set of characteristics including mental retardation, microcephaly, and distinct facial features, but the gene mutated in this condition has not yet been identified...
  17. ncbi Novel mutations at RET ligand genes preventing receptor activation are associated to Hirschsprung's disease
    Macarena Ruiz-Ferrer
    Unidad de Gestión Clínica de Genética, Reproducción y Medicina Fetal, Instituto de Biomedicina de Sevilla, Hospital Universitario Virgen del Rocío CSIC Universidad de Sevilla, Avda Manuel Siurot s n, Seville, Spain
    J Mol Med (Berl) 89:471-80. 2011
    b>Hirschsprung disease (HSCR) is a developmental disorder characterized by the absence of ganglion cells along variable lengths of the distal gastrointestinal tract...
  18. pmc Balancing neural crest cell intrinsic processes with those of the microenvironment in Tcof1 haploinsufficient mice enables complete enteric nervous system formation
    Amanda J Barlow
    Stowers Institute for Medical Research, Kansas City, MO 64110, USA
    Hum Mol Genet 21:1782-93. 2012
    ..In fact, these deficiencies can be overcome by balancing NCC intrinsic processes of proliferation and differentiation with extrinsic influences of the gut microenvironment...
  19. ncbi Bowel function and gastrointestinal quality of life among adults operated for Hirschsprung disease during childhood: a population-based study
    Kristiina Jarvi
    Section of Pediatric Surgery, Hospital for Children and Adolescents, University of Helsinki, Finland
    Ann Surg 252:977-81. 2010
    ..To assess bowel function and gastrointestinal quality of life among adults with operated Hirschsprung's disease (HD)...
  20. pmc Hedgehog/Notch-induced premature gliogenesis represents a new disease mechanism for Hirschsprung disease in mice and humans
    Elly Sau Wai Ngan
    Department of Surgery, Li Ka Shing Faculty of Medicine, University of Hong Kong, Pokfulam, Hong Kong, China
    J Clin Invest 121:3467-78. 2011
    ..Collectively, we defined PTCH1 and DLL3 as HSCR susceptibility genes and suggest that Hedgehog/Notch-induced premature gliogenesis may represent a new disease mechanism for HSCR...
  21. pmc Fine mapping of the 9q31 Hirschsprung's disease locus
    C S Tang
    Department of Psychiatry, The University of Hong Kong, Hong Kong, China
    Hum Genet 127:675-83. 2010
    ..The HSCR-association found for IKBKAP in Chinese suggests population specificity and implies that RET mutation carriers may have an additional risk. Our finding is supported by the role of IKBKAP in the development of the nervous system...
  22. pmc Comprehensive analysis of RET common and rare variants in a series of Spanish Hirschsprung patients confirms a synergistic effect of both kinds of events
    Rocío Núñez-Torres
    Unidad de Gestión Clínica de Genética, Reproducción y Medicina Fetal, Instituto de Biomedicina de Sevilla, Hospital Universitario Virgen del Rocío CSIC Universidad de Sevilla, Sevilla, Spain
    BMC Med Genet 12:138. 2011
    RET is the major gene associated to Hirschsprung disease (HSCR) with differential contributions of its rare and common, coding and noncoding mutations to the multifactorial nature of this pathology...
  23. ncbi Neural crest regionalisation for enteric nervous system formation: implications for Hirschsprung's disease and stem cell therapy
    Dongcheng Zhang
    Embryology Research Group, Murdoch Childrens Research Institute, Parkville 3052, Victoria, Australia
    Dev Biol 339:280-94. 2010
    ..This has important implications for proposed NC stem cell therapy for Hirschsprung's disease, since such cells may need to be optimised for positional identity...
  24. ncbi Segregation at three loci explains familial and population risk in Hirschsprung disease
    Stacey B Gabriel
    Department of Genetics and Center for Human Genetics, Case Western Reserve University School of Medicine, Cleveland, Ohio 44106, USA
    Nat Genet 31:89-93. 2002
    b>Hirschsprung disease (HSCR), the most common hereditary cause of intestinal obstruction, shows considerable variation and complex inheritance...
  25. ncbi TTF-1 and RET promoter SNPs: regulation of RET transcription in Hirschsprung's disease
    Merce Garcia-Barcelo
    Department of Surgery, The University of Hong Kong, Hong Kong SAR, China
    Hum Mol Genet 14:191-204. 2005
    ..We also present a detailed profile of the RET gene in our population, which provides an insight into the higher incidence of the disease in China...
  26. ncbi Looking inside an invasion wave of cells using continuum models: proliferation is the key
    Matthew J Simpson
    Department of Mathematics and Statistics, University of Melbourne, VIC 3010, Australia
    J Theor Biol 243:343-60. 2006
    ..The outcome of two other suggested experiments are predicted and left for future experimental validation...
  27. ncbi Stem cells for GI motility disorders
    Ryo Hotta
    Department of Anatomy and Cell Biology, University of Melbourne, Victoria, Australia
    Curr Opin Pharmacol 11:617-23. 2011
    ..Although definitive cell replenishment therapies for gut motility disorders appear to be an exciting and realistic prospect, even in the short-term, a number of challenges remain to be addressed before definitive clinical application...
  28. ncbi Conditional ablation of GFRalpha1 in postmigratory enteric neurons triggers unconventional neuronal death in the colon and causes a Hirschsprung's disease phenotype
    Toshihiro Uesaka
    Laboratory for Neuronal Differentiation and Regeneration, RIKEN Center for Developmental Biology, Kobe 650 0047, Japan
    Development 134:2171-81. 2007
    ..This study reveals an essential role for GFRalpha1 in the survival of enteric neurons and suggests that caspase-independent death can be triggered by abolition of neurotrophic signals...
  29. ncbi Human and mouse enteric nervous system neurosphere transplants regulate the function of aganglionic embryonic distal colon
    Richard M Lindley
    Institute of Child Health, University of Liverpool, Royal Liverpool Children s Hospital, Alder Hey, Liverpool, United Kingdom
    Gastroenterology 135:205-216.e6. 2008
    ..We therefore aimed to investigate whether embryonic mouse and neonatal human ENSPC can regulate the contractility of aganglionic bowel...
  30. pmc Association study of PHOX2B as a candidate gene for Hirschsprung's disease
    M Garcia-Barcelo
    Division of Paediatric Surgery, University of Hong Kong Medical Center, Queen Mary Hospital, and Department of Biochemistry, University of Hong Kong, Hong Kong SAR, China
    Gut 52:563-7. 2003
    ..The Phox2b gene is involved in neurogenesis and regulates Ret expression in mice, in which disruption of the Phox2b results in a HSCR-like phenotype...
  31. ncbi Enteric nervous system stem cells derived from human gut mucosa for the treatment of aganglionic gut disorders
    Marco Metzger
    Gastroenterology, Institute of Child Health, University College London, London, United Kingdom
    Gastroenterology 136:2214-25.e1-3. 2009
    ....
  32. ncbi Enteric nervous system development: Recent progress and future challenges
    Cátia Laranjeira
    MRC National Institute for Medical Research, The Ridgeway, Mill Hill, London, United Kingdom
    Auton Neurosci 151:61-9. 2009
    ..The present review will focus on recent progress on understanding the development of the mammalian enteric nervous system and highlight interesting directions of future research...
  33. pmc Mutation of the Sry-related Sox10 gene in Dominant megacolon, a mouse model for human Hirschsprung disease
    B Herbarth
    Zentrum für Molekulare Neurobiologie, Universitat Hamburg, 20246 Hamburg, Germany
    Proc Natl Acad Sci U S A 95:5161-5. 1998
    ..mouse mutant Dominant megacolon (Dom) is a valuable model for the study of human congenital megacolon (Hirschsprung disease)...
  34. ncbi RET alternate splicing influences the interaction of activated RET with the SH2 and PTB domains of Shc, and the SH2 domain of Grb2
    M J Lorenzo
    CRC Human Cancer Genetics Research Group, University of Cambridge, Department of Pathology, Cambridge, UK
    Oncogene 14:763-71. 1997
    ..cases of inherited cancer syndrome MEN 2, and inactivating mutations in some cases of dominantly inherited Hirschsprung disease. Using RET activated by a MEN 2 mutation, we show that both the SH2 and PTB domains of the adaptor protein ..
  35. pmc Rapid and efficient human mutation detection using a bench-top next-generation DNA sequencer
    Qian Jiang
    Center for Complex Disease Genomics, McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA
    Hum Mutat 33:281-9. 2012
    ..detection by amplicon sequencing of three type 3 semaphorin genes SEMA3A, SEMA3C, and SEMA3D implicated in Hirschsprung disease (HSCR)...
  36. pmc Expression of PROKR1 and PROKR2 in human enteric neural precursor cells and identification of sequence variants suggest a role in HSCR
    Macarena Ruiz-Ferrer
    Unidad de Gestión Clínica de Genética, Reproducción y Medicina Fetal, Instituto de Biomedicina de Sevilla, Hospital Universitario Virgen del Rocío CSIC Universidad de Sevilla, Sevilla, Spain
    PLoS ONE 6:e23475. 2011
    ..Recently, PROKR1 expression has been demonstrated in mouse enteric neural crest derived cells and Prok-1 was shown to work coordinately with GDNF in the development of the ENS...
  37. ncbi The Sox10(Dom) mouse: modeling the genetic variation of Waardenburg-Shah (WS4) syndrome
    E M Southard-Smith
    Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health NIH, Bethesda, Maryland 20892 4472 USA
    Genome Res 9:215-25. 1999
    b>Hirschsprung disease (HSCR) is a multigenic neurocristopathy clinically recognized by aganglionosis of the distal gastrointestinal tract...
  38. ncbi Epistatic interactions with a common hypomorphic RET allele in syndromic Hirschsprung disease
    L De Pontual
    université Paris René Descartes, Faculte de Medecine, INSERM U 781, AP HP, Hopital Necker Enfant Malades, Paris, France
    Hum Mutat 28:790-6. 2007
    b>Hirschsprung disease (HSCR) stands as a model for genetic dissection of complex diseases. In this model, a major gene, RET, is involved in most if not all cases of isolated (i.e...
  39. ncbi Transcriptional regulation of RET by Nkx2-1, Phox2b, Sox10, and Pax3
    Thomas Y Y Leon
    Division of Paediatric Surgery, Department of Surgery, The University of Hong Kong, Hong Kong SAR, China
    J Pediatr Surg 44:1904-12. 2009
    ..Mutations in RET regulatory regions are also associated with Hirschsprung disease (HSCR) (aganglionosis of the colon)...
  40. ncbi A dinucleotide mutation in the endothelin-B receptor gene is associated with lethal white foal syndrome (LWFS); a horse variant of Hirschsprung disease
    G C Yang
    Department of Surgical Research, Royal Alexandra Hospital for Children, Westmead, NSW 2145, Australia
    Hum Mol Genet 7:1047-52. 1998
    ..anomaly of horses characterized by a white coat colour and aganglionosis of the bowel, which is similar to Hirschsprung disease (HSCR)...
  41. pmc A founding locus within the RET proto-oncogene may account for a large proportion of apparently sporadic Hirschsprung disease and a subset of cases of sporadic medullary thyroid carcinoma
    Salud Borrego
    Unidad de Genética Medica y Diagnóstico Prenatal, Hospitales Universitarios Virgen del Rocio, Sevilla, Spain
    Am J Hum Genet 72:88-100. 2003
    b>Hirschsprung disease (HSCR) is a common congenital disorder characterized by aganglionosis of the gut...
  42. ncbi Diverse phenotypes associated with exon 10 mutations of the RET proto-oncogene
    L M Mulligan
    Department of Pathology, University of Cambridge, UK
    Hum Mol Genet 3:2163-7. 1994
    Mutations of the RET proto-oncogene are the underlying cause of some cases of Hirschsprung disease (HSCR) and the inherited cancer syndromes multiple endocrine neoplasia types 2A (MEN 2A) and 2B (MEN 2B) and familial medullary thyroid ..
  43. ncbi A gene for Hirschsprung disease maps to the proximal long arm of chromosome 10
    S Lyonnet
    Départment de pédiatrie, l Enfant INSERM U 12 Hôpital des Enfants Malades, Paris, France
    Nat Genet 4:346-50. 1993
    b>Hirschsprung disease (HSCR) is a frequent congenital disorder (1 in 5,000 newborns) of unknown origin characterized by the absence of parasympathetic intrinsic ganglion cells of the hindgut...
  44. pmc Mice lacking ZFHX1B, the gene that codes for Smad-interacting protein-1, reveal a role for multiple neural crest cell defects in the etiology of Hirschsprung disease-mental retardation syndrome
    Tom Van de Putte
    Department of Developmental Biology, Flanders Interuniversity Institute for Biotechnology, and Laboratory of Molecular Biology Celgen, University of Leuven, Leuven, Belgium
    Am J Hum Genet 72:465-70. 2003
    ..Smad-interacting protein-1 (SIP1), were found to be implicated in the etiology of a dominant form of Hirschsprung disease-mental retardation syndrome in humans...
  45. pmc Hirschsprung disease, associated syndromes, and genetics: a review
    J Amiel
    , , , , 75743 Paris Cedex 15, France
    J Med Genet 38:729-39. 2001
    b>Hirschsprung disease (HSCR, aganglionic megacolon) is the main genetic cause of functional intestinal obstruction with an incidence of 1/5000 live births...
  46. ncbi Identification of Sox8 as a modifier gene in a mouse model of Hirschsprung disease reveals underlying molecular defect
    Marzena Maka
    Institut fur Biochemie, Universitat Erlangen Nurnberg, D 91054 Erlangen, Germany
    Dev Biol 277:155-69. 2005
    ..heterozygous mutations in the Sox10 gene display aganglionosis of the colon and represent a model for human Hirschsprung disease. Here, we show that the closely related Sox8 functions as a modifier gene for Sox10-dependent enteric ..
  47. ncbi Hirschsprung's disease
    Simon E Kenny
    Department of Paediatric Surgery, Alder Hey Children s NHS Foundation Trust, Liverpool, UK
    Semin Pediatr Surg 19:194-200. 2010
    ..This review aims to draw these strands together to explain the developmental and biological basis of HSCR, and how this knowledge may be used in the future to aid children with HSCR...
  48. ncbi Exhaustive allelic transmission disequilibrium tests as a new approach to genome-wide association studies
    Shin Lin
    McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Broadway Research Building, Suite 475, 733 N Broadway, Baltimore, Maryland 21205, USA
    Nat Genet 36:1181-8. 2004
    ..By applying our method to simulated data and to Hirschsprung disease, we show that it can detect both common and rare disease variants of small effect...
  49. ncbi Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome)
    P Edery
    Service de Génétique Médicale et Unité de Recherches sur les Handicaps Génétiques de l Enfant, Hopital des Enfants Malades, Paris, France
    Nat Genet 12:442-4. 1996
    b>Hirschsprung disease (HSCR) and Waardenburg sundrome (WS) are congenital malformations regarded as neurocristopathies since both disorders involve neural crest-derived cells...
  50. ncbi Mapping of a Hirschsprung's disease locus in 3p21
    Maria Mercè Garcia-Barceló
    Department of Surgery, Queen Mary Hospital, Li Ka Shing Faculty of Medicine, University of Hong Kong, Hong Kong SAR, China
    Eur J Hum Genet 16:833-40. 2008
    ..Ranking markers by proximity to candidate genes or by expected functional consequences could be used in follow-up studies to finally pinpoint this HSCR locus...
  51. ncbi Genome-wide association study and mouse model identify interaction between RET and EDNRB pathways in Hirschsprung disease
    Minerva M Carrasquillo
    McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, 600 N Wolfe St, Jefferson St Bldg, 2 109, Baltimore, Maryland 21287, USA
    Nat Genet 32:237-44. 2002
    Genetic studies of Hirschsprung disease, a common congenital malformation, have identified eight genes with mutations that can be associated with this condition...
  52. ncbi The RET receptor: function in development and dysfunction in congenital malformation
    S Manie
    Laboratoire de Genetique, CNRS UMR 5641, Domaine Rockefeller, 8 avenue Rockefeller, 69373 Cedex 08, Lyon, France
    Trends Genet 17:580-9. 2001
    Germline mutations in the RET proto-oncogene are responsible for two unrelated neural crest disorders: Hirschsprung disease, a congenital absence of the enteric nervous system in the hindgut, and multiple endocrine neoplasia type 2, a ..
  53. ncbi Interaction of endothelin-3 with endothelin-B receptor is essential for development of epidermal melanocytes and enteric neurons
    A G Baynash
    Howard Hughes Medical Institute, University of Texas Southwestern Medical Center, Dallas 75235 9050
    Cell 79:1277-85. 1994
    ..These findings indicate that interaction of EDN3 with the endothelin-B receptor is essential in the development of neural crest-derived cell lineages. We postulate that defects in the human EDN3 gene may cause Hirschsprung's disease...
  54. ncbi Germline mutations in glial cell line-derived neurotrophic factor (GDNF) and RET in a Hirschsprung disease patient
    M Angrist
    Department of Genetics, Case Western Reserve University, Cleveland, Ohio, USA
    Nat Genet 14:341-4. 1996
    b>Hirschsprung disease (HSCR), or congenital aganglionic megacolon, is the most common cause of congenital bowel obstruction with an incidence of 1 in 5000 live births...
  55. ncbi Age-dependent changes in the gut environment restrict the invasion of the hindgut by enteric neural progenitors
    Noah R Druckenbrod
    Department of Anatomy and Neuroscience Training Program, University of Wisconsin School of Medicine and Public Health, Madison, WI 53705, USA
    Development 136:3195-203. 2009
    ..Together, our data suggest that a defect in pre-enteric Ednrb(flex3/flex3) NCCs results in delayed colonic arrival, which, due to environment changes in the colon, is sufficient to cause aganglionosis...
  56. ncbi Hirschsprung disease
    Ramanath N Haricharan
    Division of Pediatric Surgery, Department of General Surgery, University of Alabama at Birmingham, Birmingham, Alabama 35233, USA
    Semin Pediatr Surg 17:266-75. 2008
    b>Hirschsprung disease is a relatively common condition managed by pediatric surgeons...
  57. ncbi Hirschsprung disease: a developmental disorder of the enteric nervous system
    Sonja J McKeown
    Department of Anatomy and Cell Biology, University of Melbourne, Melbourne 3010, Vic, Australia
    Wiley Interdiscip Rev Dev Biol 2:113-29. 2013
    b>Hirschsprung disease (HSCR), which is also called congenital megacolon or intestinal aganglionosis, is characterized by an absence of enteric (intrinsic) neurons from variable lengths of the most distal bowel...
  58. ncbi Hirschsprung disease and congenital anomalies of the kidney and urinary tract (CAKUT): a novel syndromic association
    Alessio Pini Prato
    Department of Pediatric Surgery, Giannina Gaslini Institute, Genoa, Italy
    Medicine (Baltimore) 88:83-90. 2009
    Congenital anomalies of the kidney and urinary tract (CAKUT) can be associated with Hirschsprung disease (HSCR)...
  59. pmc Differential gene expression and functional analysis implicate novel mechanisms in enteric nervous system precursor migration and neuritogenesis
    Bhupinder P S Vohra
    Department of Pediatrics, Washington University School of Medicine, St Louis, MO 63110, USA
    Dev Biol 298:259-71. 2006
    ..These results provide an extensive set of ENS biomarkers, demonstrate a role for SNARE proteins in ENS development and highlight additional candidate genes that could modify Hirschsprung's disease penetrance...
  60. ncbi Association of megacolon with a new dominant spotting gene (Dom) in the mouse
    P W Lane
    J Hered 75:435-9. 1984
    ..6 +/- 1.6 units proximal to Ca. Hairy ears, Eh, a semidominant gene also on chr 15 is shown to have a suppressing effect on crossing over in this section of chr 15...
  61. ncbi Aberrant high expression of NRG1 gene in Hirschsprung disease
    Weibing Tang
    State Key Laboratory of Reproductive Medicine, Institute of Toxicology, School of Public Health, Nanjing Medical University, Nanjing 210029, China
    J Pediatr Surg 47:1694-8. 2012
    b>Hirschsprung disease (HSCR) is a congenital disorder characterized by the absence of intramural ganglion cells along with variable lengths of the gastrointestinal tract...
  62. ncbi A common variant located in the 3'UTR of the RET gene is associated with protection from Hirschsprung disease
    Paola Griseri
    Laboratory of Molecular Genetics, Institute G Gaslini, Genova, Italy
    Hum Mutat 28:168-76. 2007
    ..b>Hirschsprung disease (HSCR), a developmental disorder characterized by the absence of enteric neurons in distal segments of the ..
  63. ncbi Variants of Hirschsprung disease
    Prem Puri
    National Children s Research Centre, Our Lady s Children s Hospital, Crumlin, Dublin, Ireland
    Semin Pediatr Surg 21:310-8. 2012
    Variants of Hirschsprung disease are conditions that clinically resemble Hirschsprung disease, despite the presence of ganglion cells in rectal suction biopsies...
  64. ncbi The developmental genetics of Hirschsprung's disease
    K F Bergeron
    Molecular Genetics of Development Laboratory, Department of Biological Sciences, University of Quebec at Montreal, Canada
    Clin Genet 83:15-22. 2013
    ..The objective of this review is to provide an overview of the pathophysiology and genetics of HSCR, within the context of our current knowledge of NCC development, sex chromosome genetics and laboratory models...
  65. ncbi Exome sequencing identified NRG3 as a novel susceptible gene of Hirschsprung's disease in a Chinese population
    Jun Yang
    Department of Pediatric Surgery, Union Hospital of Huazhong University of Science and Technology, Wuhan 430022, China
    Mol Neurobiol 47:957-66. 2013
    ..1329G>A (p.M443I) and two synonymous variants c.828G>A (p.T276T) and c.1365T>A (p.P455P) only in the cases. Our results indicated that NRG3 may be a susceptibility gene for HSCR in a Chinese population...
  66. pmc Ancestral RET haplotype associated with Hirschsprung's disease shows linkage disequilibrium breakpoint at -1249
    R M Fernandez
    J Med Genet 42:322-7. 2005
    b>Hirschsprung disease (HSCR) is a complex disorder with traditional germline mutations in RET in up to 30% of familial cases and in 3% of sporadic cases in a population-based series...
  67. ncbi Hirschsprung's disease as a model of complex genetic etiology
    Salud Borrego
    Department of Genetics, Reproduction and Fetal Medicine, Institute of Biomedicine of Seville, University Hospital Virgen del Rocío CSIC University of Seville, Seville, Spain
    Histol Histopathol 28:1117-36. 2013
    b>Hirschsprung disease (HSCR), or aganglionic megacolon, is a developmental disorder characterised by the absence of ganglion cells along variable length of the distal gastrointestinal tract, leading to the most common form of functional ..
  68. pmc Male and female differential reproductive rate could explain parental transmission asymmetry of mutation origin in Hirschsprung disease
    Anne Sophie Jannot
    INSERM U 781, AP HP Hôpital Necker Enfants Malades, Paris, France
    Eur J Hum Genet 20:917-20. 2012
    b>Hirschsprung disease (HSCR, aganglionic megacolon) is a complex and heterogeneous disease with an incidence of 1 in 5000 live births...
  69. ncbi Mutations in the NRG1 gene are associated with Hirschsprung disease
    Clara Sze Man Tang
    Department of Surgery, The University of Hong Kong, Hong Kong, China
    Hum Genet 131:67-76. 2012
    b>Hirschsprung disease (HSCR, congenital colon aganglionosis) is a relatively common complex genetic condition caused by abnormal development of the enteric nervous system (ENS)...
  70. ncbi Intronic RET gene variants in Down syndrome-associated Hirschsprung disease in an African population
    Samuel W Moore
    Division of Paediatric Surgery, Faculty of Medicine, University of Stellenbosch, P O Box 19063, 7505, Tygerberg, South Africa
    J Pediatr Surg 47:299-302. 2012
    Clinical association between Hirschsprung disease (HD) and Down syndrome (DS) is well established. RET promoter and intron 1 variations have been shown to interfere with RET function, increasing the risk of HD pathogenesis...
  71. ncbi L1cam acts as a modifier gene during enteric nervous system development
    Adam S Wallace
    Department of Anatomy and Cell Biology, University of Melbourne, 3010, Australia
    Neurobiol Dis 40:622-33. 2010
    ..Finally, we show that Sox10 can regulate the expression of L1cam. Thus, L1cam can act as a modifier gene for the HSCR associated gene, Sox10, and is likely to play a role in the etiology of Hirschsprung's disease...
  72. pmc Interstitial cells of Cajal, the Maestro in health and disease
    Randa M Mostafa
    Department of Basic Medical Sciences, College of Medicine, Sharjah University, Sharjah 27272, United Arab Emirates
    World J Gastroenterol 16:3239-48. 2010
    ..This mini review describes what is known about the physiologic function and role of ICCs in GI system motility and in a variety of GI system motility disorders...
  73. ncbi SEMA3A rs7804122 polymorphism is associated with Hirschsprung disease in the Northeastern region of China
    Li Li Wang
    Key Laboratory of Health Ministry for Congenital Malformation, Shengjing Hospital, China Medical University, Shenyang 110004, People s Republic of China
    Birth Defects Res A Clin Mol Teratol 94:91-5. 2012
    b>Hirschsprung disease (HSCR) is a congenital disorder characterized by an absence of intrinsic ganglion cells in the nerve plexuses of the lower colon...
  74. pmc Copy number variants in candidate genes are genetic modifiers of Hirschsprung disease
    Qian Jiang
    Center for Complex Disease Genomics, McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America
    PLoS ONE 6:e21219. 2011
    b>Hirschsprung disease (HSCR) is a neurocristopathy characterized by absence of intramural ganglion cells along variable lengths of the gastrointestinal tract...
  75. pmc Functional characterization of three mutations of the endothelin B receptor gene in patients with Hirschsprung's disease: evidence for selective loss of Gi coupling
    S Fuchs
    INSERM Unit 36, College de France, Paris
    Mol Med 7:115-24. 2001
    ..EDNRB mutations are found in 5% of familial or sporadic HSCR. Only few EDNRB mutations found in HSCR have been explored and some of them seem to be non fonctional variants...
  76. ncbi Hirschsprung's disease: what about mortality?
    Alessio Pini Prato
    Department of Pediatric Surgery, Giannina Gaslini Institute, Largo G Gaslini, 5, 16148, Genoa, Italy
    Pediatr Surg Int 27:473-8. 2011
    ..The authors reviewed the main features of patients with Hirschsprung's disease treated in our Institution who died in the period between 1993 and 2010 in order to detect possible risk factors or prevention strategies...
  77. pmc A human model for multigenic inheritance: phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus
    S Bolk
    Department of Genetics, Case Western Reserve University School of Medicine, Cleveland OH 44106, USA
    Proc Natl Acad Sci U S A 97:268-73. 2000
    ..b>Hirschsprung disease (HSCR) demonstrates a complex pattern of inheritance with approximately 50% of familial cases being ..
  78. ncbi Mutations in Hirschsprung disease: when does a mutation contribute to the phenotype
    R M Hofstra
    Department of Medical Genetics, University of Groningen, The Netherlands
    Eur J Hum Genet 5:180-5. 1997
    b>Hirschsprung disease is a congenital disorder clinically characterized by the absence of colonic ganglia and genetically by extensive heterogeneity. Genes involved include RET, GDNF, EDNRB and EDN3...
  79. ncbi Calretinin immunohistochemistry: a simple and efficient tool to diagnose Hirschsprung disease
    Vincent Guinard-Samuel
    Service de Pathologie, Hopital Robert Debre, APHP et Université Paris, 48 Boulevard Serurier, Paris, France
    Mod Pathol 22:1379-84. 2009
    Diagnosis of Hirschsprung disease (HD) is quite entirely based on the histopathological analysis of suction rectal biopsies. This hematoxylin and eosin approach has some limitations, despite the help of acetylcholinesterase staining...
  80. ncbi Variable human phenotype associated with novel deletions of the PHOX2B gene
    Lawrence J Jennings
    Department of Pathology, Children s Memorial Hospital, 2300 Children s Plaza, Chicago, Illinois, USA
    Pediatr Pulmonol 47:153-61. 2012
    ..The objective of this study was to determine if PHOX2B exon or whole gene deletion/duplication would be identified in a subset of patients referred for PHOX2B testing...
  81. ncbi Exon structure and flanking intronic sequences of the human RET proto-oncogene
    I Ceccherini
    Laboratorio di Genetica Molecolare, Istituto G Gaslini, Genova, Italy
    Biochem Biophys Res Commun 196:1288-95. 1993
    ..which cause Multiple Endocrine Neoplasia 2A (MEN2A) and for the search of additional point mutations of the same gene which might cause two other neural crest disorders, MEN2B and Hirschsprung disease, mapping in the same region as MEN2A.
  82. pmc Gastrointestinal manifestations of multiple endocrine neoplasia type 2
    Mark S Cohen
    Department of Surgery, Washington University School of Medicine, St Louis, Missouri 63110, USA
    Ann Surg 235:648-54; discussion 654-5. 2002
    ..To determine the clinical features, natural history, and role of surgery for gastrointestinal manifestations of the multiple endocrine neoplasia type 2 (MEN 2) syndromes...
  83. pmc c-Ret-mediated hearing loss in mice with Hirschsprung disease
    Nobutaka Ohgami
    Unit of Environmental Health Sciences, Department of Biomedical Sciences, College of Life and Health Sciences, Chubu University, 1200 Matsumoto, Kasugai, Aichi 487 8501, Japan
    Proc Natl Acad Sci U S A 107:13051-6. 2010
    A significantly increased risk for dominant sensorineural deafness in patients who have Hirschsprung disease (HSCR) caused by endothelin receptor type B and SOX10 has been reported...
  84. ncbi Intestinal aganglionosis associated with the Waardenburg syndrome: report of two cases and review of the literature
    Fumiaki Toki
    Department of Surgery, Gunma Children s Medical Center, 779 Shimohakoda, Hokkitsu, Seta gun, Gunma 377 8577, Japan
    Pediatr Surg Int 19:725-8. 2003
    ....
  85. pmc Developmental biology of the enteric nervous system: pathogenesis of Hirschsprung's disease and other congenital dysmotilities
    Michael D Gershon
    Department of Anatomy and Cell Biology, Columbia University College of Physicians and Surgeons, 630 West 268th Street, New York, NY 10032, USA
    Semin Pediatr Surg 13:224-35. 2004
  86. ncbi Calretinin immunohistochemistry versus acetylcholinesterase histochemistry in the evaluation of suction rectal biopsies for Hirschsprung Disease
    Raj P Kapur
    Department of Laboratories, Chidren s Hospital and Regional Medical Center, Seattle, WA, USA
    Pediatr Dev Pathol 12:6-15. 2009
    Diagnosis of Hirschsprung disease (HSCR) relies on histologic and/or histochemical staining of sections from suction rectal biopsies...
  87. pmc Characterisation of deletions of the ZFHX1B region and genotype-phenotype analysis in Mowat-Wilson syndrome
    C Zweier
    J Med Genet 40:601-5. 2003
  88. ncbi Multiple endocrine neoplasia syndromes, children, Hirschsprung's disease and RET
    S W Moore
    Faculty of Health Sciences, University of Stellenbosch, 7505, Tygerberg, South Africa
    Pediatr Surg Int 24:521-30. 2008
    ..The future appears full of promise and the current evaluation of RET-targeting tyrosine kinase and other inhibitors are of considerable interest in the management of these conditions...
  89. ncbi Cys 618 Arg mutation in the RET proto-oncogene associated with familial medullary thyroid carcinoma and maternally transmitted Hirschsprung's disease suggesting a role for imprinting
    H Peretz
    Department of Clinical Biochemistry, Sourasky Medical Center, Tel Aviv, Israel
    Hum Mutat 10:155-9. 1997
    ..We suggest that parental imprinting may play a role in the ethiology of HSCR caused by mutations in the RET protooncogene...
  90. ncbi Functional analysis of RET with Hirschsprung mutations affecting its kinase domain
    T Iwashita
    Department of Pathology, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya 466-8550, Japan
    Gastroenterology 121:24-33. 2001
    ..AND AIMS: Many missense mutations in the RET proto-oncogene were found in familial and sporadic cases of Hirschsprung disease (HSCR)...
  91. ncbi Familial associations in medullary thyroid carcinoma with Hirschsprung disease: the role of the RET-C620 "Janus" genetic variation
    Sam W Moore
    Division of Paediatric Surgery, Faculty of Health Sciences, University of Stellenbosch, PO Box 19063, Tygerberg 7505, South Africa
    J Pediatr Surg 45:393-6. 2010
    b>Hirschsprung disease (HSCR) is associated with the later development of multiple endocrine neoplasia (MEN2), because RET gene variations are associated with both conditions...
  92. ncbi Mutations of the RET proto-oncogene in Hirschsprung's disease
    P Edery
    Service de Genetique Medicale, Clinique Chirurgicale Infantile, Hopital Necker Enfants Malades, Paris, France
    Nature 367:378-80. 1994
    ..Thus, germ-line mutations of the RET gene may contribute either to developmental anomalies in HSCR or to inherited predisposition to cancer in MEN 2A...
  93. pmc Haplotype analysis reveals a possible founder effect of RET mutation R114H for Hirschsprung's disease in the Chinese population
    Belinda K Cornes
    Paediatric Surgery Division, Department of Surgery, Li Ka Shing Faculty of Medicine, University of Hong Kong, Pokfulam, Hong Kong, Special Administrative Region, People s Republic of China
    PLoS ONE 5:e10918. 2010
    ..Due to the high frequency of RET(R114H) in this population, we sought to investigate whether this mutation may be a founder HSCR mutation in the Chinese population...
  94. pmc A novel mutation in the endothelin B receptor gene in a patient with Shah-Waardenburg syndrome and Down syndrome
    J P Boardman
    J Med Genet 38:646-7. 2001
  95. ncbi Intrinsic susceptibility to misfolding of a hot-spot for Hirschsprung disease mutations in the ectodomain of RET
    Svend Kjaer
    Division of Molecular Neurobiology, Department of Neuroscience, Karolinska Institute, 171 77 Stockholm, Sweden
    Hum Mol Genet 12:2133-44. 2003
    ..mutations in RET cause abnormal development of the enteric nervous system, a congenital condition known as Hirschsprung disease. Hirschsprung mutations in the extracellular domain of RET (RETECD) affect processing in the endoplasmic ..
  96. ncbi Mutation of the endothelin-receptor B gene in Waardenburg-Hirschsprung disease
    T Attie
    Unite de Recherches sur les Handicaps Genetiques de l Enfant, Paris, France
    Hum Mol Genet 4:2407-9. 1995
  97. pmc A novel study of copy number variations in Hirschsprung disease using the multiple ligation-dependent probe amplification (MLPA) technique
    Rocío Núñez-Torres
    Unidad de Gestión Clínica de Genética, Reproducción y Medicina Fetal, Hospital Universitario Virgen del Rocio, Manuel Siurot s n, Seville, 41013, Spain
    BMC Med Genet 10:119. 2009
    b>Hirschsprung disease (HSCR) is a congenital malformation of the hindgut produced by a disruption in neural crest cell migration during embryonic development...
  98. ncbi De novo mutation of GDNF, ligand for the RET/GDNFR-alpha receptor complex, in Hirschsprung disease
    S M Ivanchuk
    Department of Pathology, Queen s University, Kingston, ON, Canada
    Hum Mol Genet 5:2023-6. 1996
    b>Hirschsprung disease (HSCR) is a common congenital abnormality characterized by absence of the enteric ganglia in the hind gut. In 10-40% of HSCR cases, mutations of the RET receptor tyrosine kinase have been found...
  99. ncbi Correlation between genetic variations in Hox clusters and Hirschsprung's disease
    M M Garcia-Barcelo
    Division of Paediatric Surgery, Department of Surgery, Li Ka Shing Faculty of Medicine of the University of Hong Kong, Hong Kong SAR, China
    Ann Hum Genet 71:526-36. 2007
    ..The interacting HOX loci may affect the penetrance of the RET risk allele. HapMap data for the CHB population correlated well with the general Chinese population...
  100. pmc Genetic model system studies of the development of the enteric nervous system, gut motility and Hirschsprung's disease
    G Burzynski
    Department of Biology, Emory University, Atlanta, GA 30322, USA
    Neurogastroenterol Motil 21:113-27. 2009
    ..In this article, we will discuss recent advances that have been achieved using both mouse and zebrafish model genetic systems that have led to new insights into ENS development and the genetic basis of Hirschsprung's disease...
  101. ncbi Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease
    G Romeo
    Istituto Giannina Gaslini, Genova Quarto, Italy
    Nature 367:377-8. 1994
    ..Our results support the hypothesis that RET, in addition to its potential role in tumorigenesis, plays a critical role in the embryogenesis of the mammalian enteric nervous system...

Research Grants36

  1. Human embryonic stem cell-derived neural crest stem cells and Hirschsprung disea
    Sean J Morrison; Fiscal Year: 2010
    b>Hirschsprung disease, or aganglionic megacolon, is a congenital defect that affects 1 out of 5,000 live births and is characterized by a failure to form enteric nervous system (ENS) in a variable length of the hindgut ADDIN EN...
  2. Ibuprofen and enteric neural crest precursor migration
    ELLEN MERRICK; Fiscal Year: 2013
    ..b>Hirschsprung Disease (HSCR) is a birth defect of the enteric nervous system that occurs when enteric neural crest-derived cells (..
  3. Genetic Complexity and Modifiers of Hirschsprung Disease
    E Michelle Southard-Smith; Fiscal Year: 2011
    DESCRIPTION (provided by application): Hirschsprung disease (HSCR) is a complex genetic disorder...
  4. Enteric nervous system deficits in Hirschsprung ganglionic bowel
    MELISSA MUSSER; Fiscal Year: 2013
    ..b>Hirschsprung disease (HSCR) is an example of a severe, congenital GI motility disorder that affects approximately 1 in 5000 ..
  5. Analysis of Ret signaling in Drosophila enteric nervous system development.
    Thomas Kidd; Fiscal Year: 2011
    ..This condition is known as Hirschsprung Disease (HSCR) and requires corrective surgery...
  6. Signaling Hierarchies in Vertebrate Development
    Judith S Eisen; Fiscal Year: 2013
    ..Project3 investigates phenotypic variation associated with Hirschsprung disease, the leading cause of intestinal aganglionosis, exploring the hypothesis that the enteric nervous system ..
  7. Control of neural crest development in Xenopus
    Jean Pierre Saint-Jeannet; Fiscal Year: 2013
    ..wide array of seemingly unrelated clinical manifestations affecting multiple organ systems, as observed in Hirschsprung disease (hypopigmentation and aganglionic megacolon) and DiGeorge syndrome (craniofacial and heart defects)...
  8. Mechanisms of modifier effects on aganglionosis in the Sox10Dom model of HSCR
    LAUREN WALTERS; Fiscal Year: 2010
    b>Hirschsprung disease (HSCR) is a congenital disorder of the gastrointestinal tract that presents as a lack of ganglia in a variable portion of the distal colon due to deficits in the neural crest stem cells (NCSC) that give rise to the ..
  9. Analysis of HSCR patient exome sequence data using Zebrafish
    Iain T Shepherd; Fiscal Year: 2013
    ..zebrafish can be used to rapidly determine the functional significance of newly identified gene variants in Hirschsprung disease (HSCR) patients...
  10. Characterization of NSCLP gene CRISPLD2
    BRETT THOMAS CHIQUET; Fiscal Year: 2010
    ..e., Hirschsprung disease) and other NSCLP genes (i.e...
  11. GENETIC ANALYSIS OF HIRSCHSPRUNG DISEASE
    Aravinda Chakravarti; Fiscal Year: 2013
    ..proposal requests a fourth cycle of funding to explore and expand our understanding of the genetic basis of Hirschsprung disease (HSCR)...
  12. RET RECEPTOR POLYMORPHISMS & HIRSCHSPRUNG DISEASE
    Charis Eng; Fiscal Year: 2004
    ..abstract): The RET proto-oncogene, encoding a receptor tyrosine kinase, is the susceptibility gene for Hirschsprung disease (HSCR), a congenital absence of enteric ganglia, and for multiple endocrine neoplasia type 2 (MEN 2), an ..
  13. FUNCTIONAL ADAPTATIONS OF INTESTINAL SMOOTH MUSCLE
    MARION SIEGMAN; Fiscal Year: 1992
    ..In all of these studies, comparisons will be made among muscle segments from animals with experimentally- induced and congenital megacolon, the congenitally constricted rectum and the corresponding segments from their normal littermates...
  14. INTERCELLULAR SIGNALS AND INTESTINAL AGANGLIONOSIS
    Raj Kapur; Fiscal Year: 2000
    ..abstract): The overall goal of the research is to understand the pathogenesis of intestinal aganglionosis (Hirschsprung disease), which affects 1 in 5000 liveborn humans...
  15. Modifiers of Autonomic Defects in Hirschsprung Disease
    E Southard Smith; Fiscal Year: 2003
    DESCRIPTION (provided by the applicant): Hirschsprung disease (HSCR) is a complex genetic disorder whose primary clinical feature is the absence of intrinsic ganglia in the distal intestine...
  16. SACRAL CREST CELLS AND ENTERIC NEURODEVELOPMENT
    Raj Kapur; Fiscal Year: 2005
    DESCRIPTION (Applicant's Abstract): Hirschsprung disease, hypoganglionosis, intestinal neuronal dysplasia and other disorders of intestinal motility are characterized by defects in the enteric nervous system, particularly in the large ..
  17. GENETIC ANALYSIS OF HIRSCHSPRUNG DISEASE
    Aravinda Chakravarti; Fiscal Year: 2008
    unreadable] DESCRIPTION (provided by applicant): Hirschsprung disease (HSCR), or aganglionic megacolon, is a relatively common, multifactorial birth defect associated with the lack of intrinsic ganglion cells in the myenteric (Auerbach) ..
  18. SIMPLE VERTEBRATE AND INVERTEBRATE SYSTEMS
    Michael Gershon; Fiscal Year: 2005
    ..Almost all trainees have continued to be productive in biomedical science and some have acquired leadership positions. ..
  19. Development of the enteric nervous system: Cells & genes
    Michael Gershon; Fiscal Year: 2006
    ..The invited speakers include all of the leading researchers in the field, including Professor Nicole Le Douarin. We also anticipate that many post-graduate students and post-doctoral fellows will also attend. [unreadable] [unreadable]..
  20. Enterogenesis with the Use of an Implanted Mechanotransduction Device
    Daniel Teitelbaum; Fiscal Year: 2008
    ..Knowledge gained from this project could greatly improve the care of patients who suffer from short bowel syndrome. [unreadable] [unreadable] [unreadable]..
  21. PLACEBO CONTROLLED STUDY OF BACLOFEN FOR GERD IN CHILDREN WITH CEREBRAL PALSY
    Samuel Nurko; Fiscal Year: 2008
    ..This study will serve as a basis to test the medication in otherwise healthy children with GERD. [unreadable] [unreadable] [unreadable]..
  22. MOLECULAR MECHANISMS OF ADRENAL DEVELOPMENT
    Edward McCabe; Fiscal Year: 2004
    ..In addition, we will elucidate mechanisms and identify candidate genes for pathologic processes as varied as adrenal cortical aplasia, hypoplasia and tumorigenesis. ..
  23. ETB IN REGULATION OF RENAL SODIUM HANDLING
    CHERYL GARIEPY; Fiscal Year: 2003
    ....
  24. MOLECULAR GENETIC STUDIES OF GLYCEROL KINASE DEFICIENCY
    Edward McCabe; Fiscal Year: 2003
    ....
  25. EYE GROWTH DURING INFANCY
    Scott Lambert; Fiscal Year: 2001
    ..In addition, by understanding the mechanisms retarding ocular growth, it may be possible to modulate the excessive ocular growth which occurs in certain pathological conditions such as retinopathy of prematurity. ..
  26. Genetic analysis of congenital diaphragmatic hernia
    Anne Slavotinek; Fiscal Year: 2006
    ..abstract_text> ..
  27. Regulatory Molecules in Enteric Nervous System
    ALCMENE CHALAZONITIS; Fiscal Year: 2006
    ....
  28. Oral History of Human Genetics: The Intelligent Archive
    Edward McCabe; Fiscal Year: 2009
    ..3. suggest new directions for research. ..
  29. Molecular basis of Joubert syndrome and related diseases
    Melissa Parisi; Fiscal Year: 2007
    ..abstract_text> ..
  30. Radioimmunotherapy of Acute Leukemia
    Eneida Nemecek; Fiscal Year: 2007
    ..unreadable] [unreadable] [unreadable]..
  31. Functional Dissection of Ret Signaling Pathways
    Sanjay Jain; Fiscal Year: 2008
    ..of human diseases and developmental abnormalities, including multiple endocrine neoplasia type 2 syndromes, Hirschsprung disease (intestinal ganglionosis), and developmental abnormalities of the peripheral nervous and urogenital systems ..
  32. Research Symposium on Functional Abdoninal Pain in Children
    Samuel Nurko; Fiscal Year: 2007
    ..7. To educate the NASPGHAN membership on the state of the art of functional abdominal pain and IBS in children. [unreadable] [unreadable] [unreadable]..
  33. Neural crest stem cell Transplantation in the Treatment of Hirschsprung Disease
    CHERYL GARIEPY; Fiscal Year: 2007
    ..The most common and best studied ENS deficiency is Hirschsprung disease, of which there are several animal models...