A homozygous missense mutation in the tyrosine kinase domain of the RET proto-oncogene in an infant with total intestinal aganglionosis

American Journal of Gastroenterology

Volumn 96, Issue 4, 2001, Pages 1286-1291

  Shimotake, Takashi ^a   Go, Seitetsu ^a   Inoue, Kyoko ^a   Tomiyama, Hideki ^a   Iwai, Naomi ^a  

^a KYOTO PREFECTURAL UNIVERSITY OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; ARGININE; DNA; GLIAL CELL LINE DERIVED NEUROTROPHIC FACTOR; NEURTURIN; PROTEIN TYROSINE KINASE; TRYPTOPHAN;

AGANGLIONOSIS; ARTICLE; CASE REPORT; DISEASE ASSOCIATION; DNA SEQUENCE; ENZYME ACTIVITY; GENE EXPRESSION; GENE MUTATION; GENOME; HIRSCHSPRUNG DISEASE; HUMAN; INTESTINE BIOPSY; KIDNEY AGENESIS; MALE; MISSENSE MUTATION; NEWBORN; PERIPHERAL LYMPHOCYTE; PHENOTYPE; PRIORITY JOURNAL; PROTO ONCOGENE; SIGNAL TRANSDUCTION;

DROSOPHILA PROTEINS; GLIAL CELL LINE-DERIVED NEUROTROPHIC FACTOR RECEPTORS; HIRSCHSPRUNG DISEASE; HOMOZYGOTE; HUMANS; INFANT, NEWBORN; MALE; MUTATION, MISSENSE; PROTEIN-TYROSINE KINASES; PROTO-ONCOGENE PROTEINS; PROTO-ONCOGENE PROTEINS C-RET; RECEPTOR PROTEIN-TYROSINE KINASES;

EID: 0035049513     PISSN: 00029270     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0002-9270(01)02277-8     Document Type: Article

References (43)

1. Stuhltragheit Neugeborenen in Folge won Dilatation und Hypertrophie des Colons
2. Myenteric plexus in congenital megacolon: Study of eleven cases
3. Resection of rectum and rectosigmoid with preservation of the sphincter for benign spastic lesion producing megacolon
4. A new operation for the treatment of Hirschsprung's disease
5. Surgical management of Hirschsprung's disease involving the small intestine
6. Intestinal loop lengthening - A technique for increasing small intestinal length
7. Total intestinal aganglionosis
8. Total intestinal aganglionosis, an autosomal recessive condition?
9. Aganglionosis of the entire bowel
10. Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease
11. Mutations of the RET proto-oncogene in Hirschsprung's disease
12. De novo mutation of GDNF, ligand for the RET/GDNFR-alpha receptor complex, in Hirschsprung disease
13. Mutations of the RET ligand, neurturin, supports multigenic inheritance in Hirschsprung's disease
14. Defects in the kidney and enteric nervous system of mice lacking the tyrosine kinase receptor Ret
15. A direct-coloring thiocholine method for cholinesterases
16. DNA polymorphisms, and conditions for SSCP analysis of the 20 exons of the ret proto-oncogene
17. Diversity of RET proto-oncogene mutations in familial, and sporadic Hirschsprung's disease
18. Glial-derived neurotrophic factor in human adult, and fetal intestine, and in Hirschsprung's disease
19. Functional receptor for GDNF encoded by the c-ret proto-oncogene
20. Nerve growth factor promotes neurite outgrowth in guinea pig myenteric plexus ganglia
21. Glial cell linederived neurotrophic factor differentially stimulates ret mutants associated with the multiple endocrine neoplasia type 2 syndromes and Hirschsprung's disease
22. Mutation of the RET ligand, neurturin, supports multigenic inheritance in Hirschsprung disease
23. Mutation analysis of the RET receptor tyrosine kinase in Hirschsprung's disease
24. Embryogenesis of intramural ganglia of the gut and its relation to Hirschsprung's disease
25. Inability of neural crest cells to colonize the presumptive aganglionic bowel of ls/ls mutant mice: Requirement for a permissive microenvironment
26. Impaired proliferative activity of mesenchymal cells affects the migratory pathway for neural crest cells in the developing gut of mutant murine embryos
27. Hirschsprung's disease and allied disorders - A review
28. Diagnosis and treatment of Hirschsprung's disease in Japan. An analysis of 1628 patients
29. Hirschsprung's disease: A search for etiology
30. Mutations in the extracellular domain cause RET loss of function by a dominant negative mechanism
31. Extended myectomy-myotomy. A therapeutic alternative for total intestinal aganglionosis
32. Homozygous nonsense mutation in the insulin receptor gene in infant with leprechaunism
33. A homozygous splice site mutation affecting the intracellular domain of the growth hormone (GH) receptor resulting in Laron syndrome with elevated GH-binding protein
34. Homozygous deletion mutations in the plectin gene (PLEC1) in patients with epidermolysis bullosa simplex associated with late-onset muscular dystrophy
35. Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A
36. Molecular analysis of the ret and GDNF genes in a family with multiple endocrine neoplasia type 2A and Hirschsprung disease
37. A mutation in the RET proto-oncogene associated with multiple endocrine neoplasia type 2B and sporadic medullary thyroid carcinoma
38. Activation of RET as a dominant transforming gene by germline mutations of MEN2A, and MEN2B
39. Mechanism of ret dysfunction by Hirschsprung mutations affecting its extracellular domain
40. Loss of function effect of RET mutations causing Hirschsprung disease
41. Aganglionosis of the entire bowel: Four new cases and review of the literature
42. Germline mutation of the RET proto-oncogene in children with total intestinal aganglionosis
43. Phenotypic variation in a family with mutations in two Hirschsprungrelated genes