Genomes and Genes
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.
Publications317 found, 100 shown here
- A common sex-dependent mutation in a RET enhancer underlies Hirschsprung disease riskEileen 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 ..
- Hirschsprung disease, associated syndromes and genetics: a reviewJ 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. 2008b>Hirschsprung disease (HSCR, aganglionic megacolon) represents the main genetic cause of functional intestinal obstruction with an incidence of 1/5000 live births...
- Enteric nervous system development and Hirschsprung's disease: advances in genetic and stem cell studiesTiffany 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...
- Genome-wide copy number analysis uncovers a new HSCR gene: NRG3Clara Sze Man Tang
Department of Surgery, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, China
PLoS Genet 8:e1002687. 2012b>Hirschsprung disease (HSCR) is a congenital disorder characterized by aganglionosis of the distal intestine...
- Differential contributions of rare and common, coding and noncoding Ret mutations to multifactorial Hirschsprung disease liabilityEileen 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. 2010The major gene for Hirschsprung disease (HSCR) encodes the receptor tyrosine kinase RET...
- Reduced RET expression in gut tissue of individuals carrying risk alleles of Hirschsprung's diseaseXiaoping 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....
- Developmental determinants of the independence and complexity of the enteric nervous systemMichael 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...
- Characterisation and transplantation of enteric nervous system progenitor cellsSarah 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...
- Genetics of Hirschsprung diseaseM A Parisi
Department of Pediatrics, Children s Hospital and Regional Medical Center, Seattle, Washington, USA
Curr Opin Pediatr 12:610-7. 2000b>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...
- Postnatal intestinal engraftment of prospectively selected enteric neural crest stem cells in a rat model of Hirschsprung diseaseY 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.
- Association of multiple endocrine neoplasia type 2 and Hirschsprung diseaseG Romeo
Department of Pediatric Surgery, Instituto G and University of Genoa Medical School, Italy
J Intern Med 243:515-20. 1998In 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 ..
- Hirschsprung disease in MEN 2A: increased spectrum of RET exon 10 genotypes and strong genotype-phenotype correlationR 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)...
- Genetic basis of Hirschsprung's diseasePaul 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...
- Loss-of-function mutations in SIP1 Smad interacting protein 1 result in a syndromic Hirschsprung diseaseV 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. 2001b>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...
- Targeted and natural (piebald-lethal) mutations of endothelin-B receptor gene produce megacolon associated with spotted coat color in miceK 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...
- Mutations in SIP1, encoding Smad interacting protein-1, cause a form of Hirschsprung diseaseN Wakamatsu
Department of Genetics, Central Hospital, Aichi Human Service Center, Kasugai, Aichi, Japan
Nat Genet 27:369-70. 2001b>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...
- Novel mutations at RET ligand genes preventing receptor activation are associated to Hirschsprung's diseaseMacarena 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. 2011b>Hirschsprung disease (HSCR) is a developmental disorder characterized by the absence of ganglion cells along variable lengths of the distal gastrointestinal tract...
- Balancing neural crest cell intrinsic processes with those of the microenvironment in Tcof1 haploinsufficient mice enables complete enteric nervous system formationAmanda 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...
- Bowel function and gastrointestinal quality of life among adults operated for Hirschsprung disease during childhood: a population-based studyKristiina 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)...
- Hedgehog/Notch-induced premature gliogenesis represents a new disease mechanism for Hirschsprung disease in mice and humansElly 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...
- Fine mapping of the 9q31 Hirschsprung's disease locusC 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...
- Comprehensive analysis of RET common and rare variants in a series of Spanish Hirschsprung patients confirms a synergistic effect of both kinds of eventsRocío 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. 2011RET 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...
- Neural crest regionalisation for enteric nervous system formation: implications for Hirschsprung's disease and stem cell therapyDongcheng 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...
- Segregation at three loci explains familial and population risk in Hirschsprung diseaseStacey 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. 2002b>Hirschsprung disease (HSCR), the most common hereditary cause of intestinal obstruction, shows considerable variation and complex inheritance...
- TTF-1 and RET promoter SNPs: regulation of RET transcription in Hirschsprung's diseaseMerce 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...
- Looking inside an invasion wave of cells using continuum models: proliferation is the keyMatthew 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...
- Stem cells for GI motility disordersRyo 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...
- Conditional ablation of GFRalpha1 in postmigratory enteric neurons triggers unconventional neuronal death in the colon and causes a Hirschsprung's disease phenotypeToshihiro 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...
- Human and mouse enteric nervous system neurosphere transplants regulate the function of aganglionic embryonic distal colonRichard 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...
- Association study of PHOX2B as a candidate gene for Hirschsprung's diseaseM 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...
- Enteric nervous system stem cells derived from human gut mucosa for the treatment of aganglionic gut disordersMarco Metzger
Gastroenterology, Institute of Child Health, University College London, London, United Kingdom
Gastroenterology 136:2214-25.e1-3. 2009....
- Enteric nervous system development: Recent progress and future challengesCátia 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...
- Mutation of the Sry-related Sox10 gene in Dominant megacolon, a mouse model for human Hirschsprung diseaseB 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)...
- RET alternate splicing influences the interaction of activated RET with the SH2 and PTB domains of Shc, and the SH2 domain of Grb2M 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 ..
- Rapid and efficient human mutation detection using a bench-top next-generation DNA sequencerQian 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)...
- Expression of PROKR1 and PROKR2 in human enteric neural precursor cells and identification of sequence variants suggest a role in HSCRMacarena 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...
- The Sox10(Dom) mouse: modeling the genetic variation of Waardenburg-Shah (WS4) syndromeE 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. 1999b>Hirschsprung disease (HSCR) is a multigenic neurocristopathy clinically recognized by aganglionosis of the distal gastrointestinal tract...
- Epistatic interactions with a common hypomorphic RET allele in syndromic Hirschsprung diseaseL 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. 2007b>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...
- Transcriptional regulation of RET by Nkx2-1, Phox2b, Sox10, and Pax3Thomas 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)...
- A dinucleotide mutation in the endothelin-B receptor gene is associated with lethal white foal syndrome (LWFS); a horse variant of Hirschsprung diseaseG 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)...
- 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 carcinomaSalud Borrego
Unidad de Genética Medica y Diagnóstico Prenatal, Hospitales Universitarios Virgen del Rocio, Sevilla, Spain
Am J Hum Genet 72:88-100. 2003b>Hirschsprung disease (HSCR) is a common congenital disorder characterized by aganglionosis of the gut...
- Diverse phenotypes associated with exon 10 mutations of the RET proto-oncogeneL M Mulligan
Department of Pathology, University of Cambridge, UK
Hum Mol Genet 3:2163-7. 1994Mutations 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 ..
- A gene for Hirschsprung disease maps to the proximal long arm of chromosome 10S Lyonnet
Départment de pédiatrie, l Enfant INSERM U 12 Hôpital des Enfants Malades, Paris, France
Nat Genet 4:346-50. 1993b>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...
- 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 syndromeTom 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...
- Hirschsprung disease, associated syndromes, and genetics: a reviewJ Amiel
, , , , 75743 Paris Cedex 15, France
J Med Genet 38:729-39. 2001b>Hirschsprung disease (HSCR, aganglionic megacolon) is the main genetic cause of functional intestinal obstruction with an incidence of 1/5000 live births...
- Identification of Sox8 as a modifier gene in a mouse model of Hirschsprung disease reveals underlying molecular defectMarzena 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 ..
- Hirschsprung's diseaseSimon 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...
- Exhaustive allelic transmission disequilibrium tests as a new approach to genome-wide association studiesShin 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...
- 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. 1996b>Hirschsprung disease (HSCR) and Waardenburg sundrome (WS) are congenital malformations regarded as neurocristopathies since both disorders involve neural crest-derived cells...
- Mapping of a Hirschsprung's disease locus in 3p21Maria 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...
- Genome-wide association study and mouse model identify interaction between RET and EDNRB pathways in Hirschsprung diseaseMinerva 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. 2002Genetic studies of Hirschsprung disease, a common congenital malformation, have identified eight genes with mutations that can be associated with this condition...
- The RET receptor: function in development and dysfunction in congenital malformationS Manie
Laboratoire de Genetique, CNRS UMR 5641, Domaine Rockefeller, 8 avenue Rockefeller, 69373 Cedex 08, Lyon, France
Trends Genet 17:580-9. 2001Germline 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 ..
- Interaction of endothelin-3 with endothelin-B receptor is essential for development of epidermal melanocytes and enteric neuronsA 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...
- Germline mutations in glial cell line-derived neurotrophic factor (GDNF) and RET in a Hirschsprung disease patientM Angrist
Department of Genetics, Case Western Reserve University, Cleveland, Ohio, USA
Nat Genet 14:341-4. 1996b>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...
- Age-dependent changes in the gut environment restrict the invasion of the hindgut by enteric neural progenitorsNoah 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...
- Hirschsprung diseaseRamanath 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. 2008b>Hirschsprung disease is a relatively common condition managed by pediatric surgeons...
- Hirschsprung disease: a developmental disorder of the enteric nervous systemSonja J McKeown
Department of Anatomy and Cell Biology, University of Melbourne, Melbourne 3010, Vic, Australia
Wiley Interdiscip Rev Dev Biol 2:113-29. 2013b>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...
- Hirschsprung disease and congenital anomalies of the kidney and urinary tract (CAKUT): a novel syndromic associationAlessio Pini Prato
Department of Pediatric Surgery, Giannina Gaslini Institute, Genoa, Italy
Medicine (Baltimore) 88:83-90. 2009Congenital anomalies of the kidney and urinary tract (CAKUT) can be associated with Hirschsprung disease (HSCR)...
- Differential gene expression and functional analysis implicate novel mechanisms in enteric nervous system precursor migration and neuritogenesisBhupinder 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...
- Association of megacolon with a new dominant spotting gene (Dom) in the mouseP 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...
- Aberrant high expression of NRG1 gene in Hirschsprung diseaseWeibing 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. 2012b>Hirschsprung disease (HSCR) is a congenital disorder characterized by the absence of intramural ganglion cells along with variable lengths of the gastrointestinal tract...
- A common variant located in the 3'UTR of the RET gene is associated with protection from Hirschsprung diseasePaola 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 ..
- Variants of Hirschsprung diseasePrem Puri
National Children s Research Centre, Our Lady s Children s Hospital, Crumlin, Dublin, Ireland
Semin Pediatr Surg 21:310-8. 2012Variants of Hirschsprung disease are conditions that clinically resemble Hirschsprung disease, despite the presence of ganglion cells in rectal suction biopsies...
- The developmental genetics of Hirschsprung's diseaseK 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...
- Exome sequencing identified NRG3 as a novel susceptible gene of Hirschsprung's disease in a Chinese populationJun 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...
- Ancestral RET haplotype associated with Hirschsprung's disease shows linkage disequilibrium breakpoint at -1249R M Fernandez
J Med Genet 42:322-7. 2005b>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...
- Hirschsprung's disease as a model of complex genetic etiologySalud 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. 2013b>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 ..
- Male and female differential reproductive rate could explain parental transmission asymmetry of mutation origin in Hirschsprung diseaseAnne Sophie Jannot
INSERM U 781, AP HP Hôpital Necker Enfants Malades, Paris, France
Eur J Hum Genet 20:917-20. 2012b>Hirschsprung disease (HSCR, aganglionic megacolon) is a complex and heterogeneous disease with an incidence of 1 in 5000 live births...
- Mutations in the NRG1 gene are associated with Hirschsprung diseaseClara Sze Man Tang
Department of Surgery, The University of Hong Kong, Hong Kong, China
Hum Genet 131:67-76. 2012b>Hirschsprung disease (HSCR, congenital colon aganglionosis) is a relatively common complex genetic condition caused by abnormal development of the enteric nervous system (ENS)...
- Intronic RET gene variants in Down syndrome-associated Hirschsprung disease in an African populationSamuel 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. 2012Clinical 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...
- L1cam acts as a modifier gene during enteric nervous system developmentAdam 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...
- Interstitial cells of Cajal, the Maestro in health and diseaseRanda 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...
- SEMA3A rs7804122 polymorphism is associated with Hirschsprung disease in the Northeastern region of ChinaLi 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. 2012b>Hirschsprung disease (HSCR) is a congenital disorder characterized by an absence of intrinsic ganglion cells in the nerve plexuses of the lower colon...
- Copy number variants in candidate genes are genetic modifiers of Hirschsprung diseaseQian 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. 2011b>Hirschsprung disease (HSCR) is a neurocristopathy characterized by absence of intramural ganglion cells along variable lengths of the gastrointestinal tract...
- Functional characterization of three mutations of the endothelin B receptor gene in patients with Hirschsprung's disease: evidence for selective loss of Gi couplingS 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...
- 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...
- A human model for multigenic inheritance: phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locusS 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 ..
- Mutations in Hirschsprung disease: when does a mutation contribute to the phenotypeR M Hofstra
Department of Medical Genetics, University of Groningen, The Netherlands
Eur J Hum Genet 5:180-5. 1997b>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...
- Calretinin immunohistochemistry: a simple and efficient tool to diagnose Hirschsprung diseaseVincent Guinard-Samuel
Service de Pathologie, Hopital Robert Debre, APHP et Université Paris, 48 Boulevard Serurier, Paris, France
Mod Pathol 22:1379-84. 2009Diagnosis 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...
- Variable human phenotype associated with novel deletions of the PHOX2B geneLawrence 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...
- Exon structure and flanking intronic sequences of the human RET proto-oncogeneI 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.
- Gastrointestinal manifestations of multiple endocrine neoplasia type 2Mark 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...
- c-Ret-mediated hearing loss in mice with Hirschsprung diseaseNobutaka 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. 2010A 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...
- Intestinal aganglionosis associated with the Waardenburg syndrome: report of two cases and review of the literatureFumiaki 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....
- Developmental biology of the enteric nervous system: pathogenesis of Hirschsprung's disease and other congenital dysmotilitiesMichael 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
- Calretinin immunohistochemistry versus acetylcholinesterase histochemistry in the evaluation of suction rectal biopsies for Hirschsprung DiseaseRaj P Kapur
Department of Laboratories, Chidren s Hospital and Regional Medical Center, Seattle, WA, USA
Pediatr Dev Pathol 12:6-15. 2009Diagnosis of Hirschsprung disease (HSCR) relies on histologic and/or histochemical staining of sections from suction rectal biopsies...
- Characterisation of deletions of the ZFHX1B region and genotype-phenotype analysis in Mowat-Wilson syndromeC Zweier
J Med Genet 40:601-5. 2003
- Multiple endocrine neoplasia syndromes, children, Hirschsprung's disease and RETS 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...
- 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 imprintingH 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...
- Functional analysis of RET with Hirschsprung mutations affecting its kinase domainT 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)...
- Familial associations in medullary thyroid carcinoma with Hirschsprung disease: the role of the RET-C620 "Janus" genetic variationSam 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. 2010b>Hirschsprung disease (HSCR) is associated with the later development of multiple endocrine neoplasia (MEN2), because RET gene variations are associated with both conditions...
- Mutations of the RET proto-oncogene in Hirschsprung's diseaseP 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...
- Haplotype analysis reveals a possible founder effect of RET mutation R114H for Hirschsprung's disease in the Chinese populationBelinda 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...
- A novel mutation in the endothelin B receptor gene in a patient with Shah-Waardenburg syndrome and Down syndromeJ P Boardman
J Med Genet 38:646-7. 2001
- Intrinsic susceptibility to misfolding of a hot-spot for Hirschsprung disease mutations in the ectodomain of RETSvend 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 ..
- Mutation of the endothelin-receptor B gene in Waardenburg-Hirschsprung diseaseT Attie
Unite de Recherches sur les Handicaps Genetiques de l Enfant, Paris, France
Hum Mol Genet 4:2407-9. 1995
- A novel study of copy number variations in Hirschsprung disease using the multiple ligation-dependent probe amplification (MLPA) techniqueRocío 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. 2009b>Hirschsprung disease (HSCR) is a congenital malformation of the hindgut produced by a disruption in neural crest cell migration during embryonic development...
- De novo mutation of GDNF, ligand for the RET/GDNFR-alpha receptor complex, in Hirschsprung diseaseS M Ivanchuk
Department of Pathology, Queen s University, Kingston, ON, Canada
Hum Mol Genet 5:2023-6. 1996b>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...
- Correlation between genetic variations in Hox clusters and Hirschsprung's diseaseM 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...
- Genetic model system studies of the development of the enteric nervous system, gut motility and Hirschsprung's diseaseG 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...
- Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's diseaseG 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...
- Human embryonic stem cell-derived neural crest stem cells and Hirschsprung diseaSean J Morrison; Fiscal Year: 2010b>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...
- Ibuprofen and enteric neural crest precursor migrationELLEN 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 (..
- Genetic Complexity and Modifiers of Hirschsprung DiseaseE Michelle Southard-Smith; Fiscal Year: 2011DESCRIPTION (provided by application): Hirschsprung disease (HSCR) is a complex genetic disorder...
- Enteric nervous system deficits in Hirschsprung ganglionic bowelMELISSA MUSSER; Fiscal Year: 2013..b>Hirschsprung disease (HSCR) is an example of a severe, congenital GI motility disorder that affects approximately 1 in 5000 ..
- 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...
- Signaling Hierarchies in Vertebrate DevelopmentJudith 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 ..
- Control of neural crest development in XenopusJean 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)...
- Mechanisms of modifier effects on aganglionosis in the Sox10Dom model of HSCRLAUREN WALTERS; Fiscal Year: 2010b>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 ..
- Analysis of HSCR patient exome sequence data using ZebrafishIain 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...
- Characterization of NSCLP gene CRISPLD2BRETT THOMAS CHIQUET; Fiscal Year: 2010..e., Hirschsprung disease) and other NSCLP genes (i.e...
- GENETIC ANALYSIS OF HIRSCHSPRUNG DISEASEAravinda 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)...
- RET RECEPTOR POLYMORPHISMS & HIRSCHSPRUNG DISEASECharis 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 ..
- FUNCTIONAL ADAPTATIONS OF INTESTINAL SMOOTH MUSCLEMARION 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...
- INTERCELLULAR SIGNALS AND INTESTINAL AGANGLIONOSISRaj 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...
- Modifiers of Autonomic Defects in Hirschsprung DiseaseE Southard Smith; Fiscal Year: 2003DESCRIPTION (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...
- SACRAL CREST CELLS AND ENTERIC NEURODEVELOPMENTRaj Kapur; Fiscal Year: 2005DESCRIPTION (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 ..
- GENETIC ANALYSIS OF HIRSCHSPRUNG DISEASEAravinda Chakravarti; Fiscal Year: 2008unreadable] 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) ..
- SIMPLE VERTEBRATE AND INVERTEBRATE SYSTEMSMichael Gershon; Fiscal Year: 2005..Almost all trainees have continued to be productive in biomedical science and some have acquired leadership positions. ..
- Development of the enteric nervous system: Cells & genesMichael 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]..
- Enterogenesis with the Use of an Implanted Mechanotransduction DeviceDaniel 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]..
- PLACEBO CONTROLLED STUDY OF BACLOFEN FOR GERD IN CHILDREN WITH CEREBRAL PALSYSamuel Nurko; Fiscal Year: 2008..This study will serve as a basis to test the medication in otherwise healthy children with GERD. [unreadable] [unreadable] [unreadable]..
- MOLECULAR MECHANISMS OF ADRENAL DEVELOPMENTEdward 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. ..
- ETB IN REGULATION OF RENAL SODIUM HANDLINGCHERYL GARIEPY; Fiscal Year: 2003....
- MOLECULAR GENETIC STUDIES OF GLYCEROL KINASE DEFICIENCYEdward McCabe; Fiscal Year: 2003....
- EYE GROWTH DURING INFANCYScott 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. ..
- Genetic analysis of congenital diaphragmatic herniaAnne Slavotinek; Fiscal Year: 2006..abstract_text> ..
- Regulatory Molecules in Enteric Nervous SystemALCMENE CHALAZONITIS; Fiscal Year: 2006....
- Oral History of Human Genetics: The Intelligent ArchiveEdward McCabe; Fiscal Year: 2009..3. suggest new directions for research. ..
- Molecular basis of Joubert syndrome and related diseasesMelissa Parisi; Fiscal Year: 2007..abstract_text> ..
- Radioimmunotherapy of Acute LeukemiaEneida Nemecek; Fiscal Year: 2007..unreadable] [unreadable] [unreadable]..
- Functional Dissection of Ret Signaling PathwaysSanjay 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 ..
- Research Symposium on Functional Abdoninal Pain in ChildrenSamuel 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]..
- Neural crest stem cell Transplantation in the Treatment of Hirschsprung DiseaseCHERYL GARIEPY; Fiscal Year: 2007..The most common and best studied ENS deficiency is Hirschsprung disease, of which there are several animal models...