Enteric nervous system disorders: Genetic and molecular insights for the neurogastroenterologist

Neurogastroenterology and Motility

Volumn 13, Issue 4, 2001, Pages 277-295

  Camilleri, Michael ^a  

^a MAYO CLINIC   (United States)

Author keywords

Constipation; Hirschsprung's; Megacolon; Neurotrophins; Pseudo obstruction; Tyrosine kinase

Indexed keywords

BRAIN DERIVED NEUROTROPHIC FACTOR; ENDOTHELIN; ENDOTHELIN 1; ENDOTHELIN 2; ENDOTHELIN 3; ENDOTHELIN B RECEPTOR; GLIAL CELL LINE DERIVED NEUROTROPHIC FACTOR; MITOCHONDRIAL DNA; NERVE GROWTH FACTOR; NEUROTROPHIC FACTOR; NEUROTROPHIN 3; NEUROTROPHIN 4; NEUROTROPHIN 6; TRANSCRIPTION FACTOR;

CELL MIGRATION; CLINICAL FEATURE; COLON DISEASE; DISORDERS OF MITOCHONDRIAL FUNCTIONS; ENTEROPATHY; ENZYME ACTIVITY; GENE LOCUS; GENE MUTATION; GENETIC DISORDER; HIRSCHSPRUNG DISEASE; HISTOPATHOLOGY; HUMAN; INTESTINE CELL; INTESTINE FUNCTION; INTESTINE INNERVATION; INTESTINE MOTILITY; INTESTINE PSEUDOOBSTRUCTION; MEDICAL SPECIALIST; MYENTERIC PLEXUS; NERVE CELL DIFFERENTIATION; NERVOUS SYSTEM DEVELOPMENT; NEUROFIBROMATOSIS; NEUROMUSCULAR DISEASE; NONHUMAN; ONTOGENY; PRIORITY JOURNAL; REVIEW;

EID: 0034799579     PISSN: 13501925     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2982.2001.t01-1-00277.x     Document Type: Review

References (107)

1. Little brain - Big brain V
2. Enteric neurophysiology
3. Ultrastructure of the tunica muscularis of the cardial portion of the human esophagus and stomach, with special reference to the so-called Cajal's interstitial cells
4. Some ultrastructural features of the muscular coat of human small intestine
5. Interstitial cells of Cajal: Intestinal pacemaker cells?
6. Nutrient tasting and signaling mechanisms in the gut. II. The intestine as a sensory organ: Neural, endocrine, and immune responses
7. IL-1beta and IL-6 excite neurons and suppress nicotinic and noradrenergic neurotransmission in guinea pig enteric nervous system
8. 5-Hydroxytryptamine 4 receptor agonists initiate the peristaltic reflex in human, rat, and guinea pig intestine
9. The origin of intrinsic ganglia of trunk viscerafrom vagal neural crest in the chick embryo
10. Common origin and developmental dependence on c-ret of subsets of enteric and sympathetic neuroblasts
11. Colonization of the post-umbilical bowel by cells derived from the sacral neural crest: Direct tracing of cell migration using an intercalating probe and a replication-deficient retrovirus
12. Zonal adult Hirschsprung's disease
13. Structural abnormalities associated with the congenital mega-colon in transgenic mice that overexpress the Hoxa-4 gene
14. Peripheral ex#132;pression and biological activities of GDNF, a new neurotrophic factor for avian and mammalian peripheral neurones
15. Sacral neural crest cells colonize aganglionic hindgut in vivo but fail to compensate for lack of enteric ganglia
16. Sacral neural crest cell migration to the gut is dependent upon the migratory environment and not cell-autonomous migratory properties
17. Lumbo-sacral neural crest contributes to the avian enteric nervous system independently of vagal neural crest
18. Genes and lineages in the formation of the enteric nervous system
19. Genes. Lineages, and tissue interactions in the development of the enteric nervous system
20. Neurotrophin-3 induces neural crest-derived cells from fetal rat gut to develop in vitro as neurons or glia
21. Severe sensory and sympathetic deficits in mice lacking neurotrophin-3
22. Distinct subpopulations of enteric neuronal progenitors defined by time of development, sympathoadrenal lineage markers, and Mash-1-dependence
23. Defects in enteric innervation and kidney development in mice lacking GDNF
24. Renal agenesis and the absence of enteric neurons in mice lacking GDNF
25. Defect in the kidney and enteric nervous system of mice lacking the tyrosine kinase receptor Ret
26. Age- and cell type-dependence of the responses of crest-derived cells immunoselected from the fetal rat gut to GDNF and NT-3
27. GDNF and ET-3 differentially modulate the numbers of avian enteric neural crest cells and enteric neurons in vitro
28. Expression of GDNF family receptor components during development: Implications in the mechanisms of interaction
29. 2B receptors mediate the 5-HT-induced development of enteric neurons
30. Targeted and natural (piebald-lethal) mutation of endothelin-B receptor produce megacolon associated with spotted coat color in mice
31. A missense mutation of the endothelin-receptor gene in mutagenic Hirschsprung's disease
32. Hirschsprung's disease: Genetic mutations in mice and men
33. Interaction of endothelin-3 with endothelin-B receptor is essential for development of epidermal melanocytes and enteric neurons
34. Molecular biology, biochemistry, pharmacology, physiology, and pathophysiology
35. Intercellular signals downstream of endothelin receptor-B mediate colonization of the large-intestine by enteric neuroblasts
36. Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung's disease (Shah-Waardenburg syndrome)
37. Inhibition of in vitro enteric neuronal development by endothelin-3: Mediation by endothelin B receptors
38. The alpha-1 subunit of laminin-1 promotes the development of neurons by interacting with LBP110 expressed by neural crest-derived cells immunoselected from the fetal mouse gut
39. The homeobox gene Phox2b is essential for the development of autonomic neural crest derivatives
40. Sox10 mutation disrupts neural crest development in Dom Hirschsprung mouse model
41. Early death of neural crest cells is responsible for total enteric aganglionosis in Sox10 (Dom)/Sox10 (Dom) mouse embryos
42. Coordinated expression of 3′ hox genes during murine embryonal gut development: An enteric Hox code
43. Enx (Hox11L1)-deficient mice develop myenteric neuronal hyperplasia and megacolon
44. A novel pathogenesis of megacolon in Ncx/Hox11L.1 deficient mice
45. Endothelins, pseudo-obstruction and Hirschsprung's disease
46. Molecular heterogeneity of RET loss of function in Hirschsprung's disease
47. De novo mutation of GDNF, ligand for the RET/GDNF-alpha receptor complex in Hirschsprung's disease
48. Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome)
49. Multiple mucosal neuromas, phaeochromocytoma and medullary carcinoma of the thyroid-syndrome
50. Alimentary tract ganglioneuromatosis. A major component of the syndrome of multiple endocrine neoplasia type 2b
51. Multiple endocrine neoplasia type 2 and medullary thyroid carcinoma
52. The relationship between specific RET proto-oncogene mutations and disease phenotype in multiple endocrine neoplasia type 2: International RET Mutation Consortium analysis
53. Germline dinucleotide mutation in codon 883 of the RET proto-oncogene in multiple endocrine neoplasia type 2B without codon 918 mutation
54. Catalytic specificity of protein-tyrosine kinases is critical for selective signaling
55. Activation of RET as a dominant transforming gene by germline mutations of MEN 2A and MEN 2B
56. Full activation of MEN 2B mutant RET by additional MEN 2A mutation or by ligand GDNF stimulation
57. Intestinal ganglioneuromatosis and multiple endocrine neoplasia type 2B: Implications for treatment
58. Mitochondrial diseases in man and mouse
59. Mitochondrial neuro-gastrointestinal encephalomyopathy: Manometric and diagnostic features
60. Mitochondrial neurogastrointestinal encephalo-myopathy: Diagnosis by rectal biopsy
61. Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder
62. The soma and neurites of primary afferent neurons in the guinea-pig intestine respond differentially to deformation
63. Intracellular recording from myenteric neurons of the guinea-pig ileum that respond to stretch
64. Neuronal anomalies and normal muscle morphology at the hypomotile ileocecocolonic region of patients affected by idiopathic chronic constipation
65. Abnormal colonic endocrine cells in patients with chronic idiopathic slow-transit constipation
66. Neuropeptides in idiopathic chronic constipation (slow transit constipation)
67. Deficiency of substance P-immunoreactive nerve fibres in children with intractable constipation: A form of intestinal neuronal dysplasia
68. Immunohistochemical study of the colonic muscle and innervation in idiopathic chronic constipation
69. Nitric oxide synthase and VIP distribution in enteric nervous system in idiopathic chronic constipation
70. Decreased substance P levels in rectal biopsies from patients with slow transit constipation
71. Abnormalities of nerve fibers in the circular muscle of patients with slow transit constipation
72. Idiopathic chronic constipation is associated with decreased colonic vasoactive intestinal peptide
73. Severe idiopathic constipation is associated with a distinctive abnormality of the colonic myenteric plexus
74. Dopaminergic defect of enteric nervous system in Parkinson's disease patients with chronic constipation
75. Decreased interstitial cell of Cajal volume in patients with slow-transit constipation
76. Requirement of c-kit for development of intestinal pacemaker system
77. W/kit gene required for interstitial cells of Cajal and for intestinal pacemaker activity
78. Generation of slow waves in membrane potential is an intrinsic property of interstitial cells of Cajal
79. Interstitial cells of Cajal as targets for pharmacological intervention in gastrointestinal motor disorders
80. Involvement of interstitial cells of Cajal in pacemaker activity of canine colon
81. Development of electrical rhythmicity in the murine gastrointestinal tract is specifically encoded in the tunica muscularis
82. Molecular markers expressed in cultured and freshly isolated interstitial cells of Cajal
83. Interstitial cells of Cajal in human colon and in Hirschsprung's disease
84. Deficiency of c-kit+ cells in patients with a myopathic form of chronic idiopathic intestinal pseudo-obstruction
85. Gain-of-function mutations of c-kit in human gastrointestinal stromal tumors
86. Cause of familial and multiple gastrointestinal autonomic nerve tumors with hyperplasia of interstitial cells of Cajal is germline mutation of the c-kit gene
87. Delayed maturation of the interstitial cells of Cajal. A new diagnosis for transient neonatal pseudoobstruction. Report of two cases
88. NK1 receptor expression in the interstitial cells of Cajal and neurons and tachykinins distribution in rat ileum during development
89. Loss of interstitial cells and a fibromuscular layer on the luminal side of the colonic circular muscle presenting as megacolon in an adult patient
90. Functions of neurotrophins during nervous system development: What the knockouts are teaching us
91. Physiology of the neurotrophins
92. The Trk family of neurotrophin receptors
93. Ret proto-oncogene product is a useful marker of lineage determination in the development of the enteric nervous system in rats
94. Signaling by the RET receptor tyrosine kinase and its role in the development of the mammalian enteric nervous system
95. Long-lasting neurotrophin-induced enhancement of synaptic transmission in the adult hippocampus
96. Neurotrophin expression in rat hippocampal slices: A stimulus paradigm inducing LTP in CA1 evokes increase in BDNF and NT-3 mRNAs
97. Hippocampal long-term potentiation is impaired in mice lacking brain-derived neurotrophic factor
98. A controlled trial of recombinant methionyl human BDNF in ALS
99. Recombinant human neurotrophic factors accelerate colonic transit and relieve constipation in humans
100. Physiology of the neurotrophins
101. The Trk family of neurotrophin receptors
102. Long-lasting neurotrophin-induced enhancement of synaptic transmission in the adult hippocampus
103. Potentiation of developing neuromuscular synapses by the neurotrophins NT-3 and BDNF
104. Neurotrophins and neuronal plasticity
105. Anterograde transport of brain-derived neurotrophic factor and its role in the brain
106. Recombinant human neurotrophin-3 increases noncholinergic smooth muscle contractility and decreases nonadrenergic non-cholinergic (NANC) inhibition of myenteric neurons in guinea-pig colon