intestinal pseudo-obstruction/tyrosine

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Abnormal distribution of intestinal pacemaker (C-KIT-positive) cells in an infant with chronic idiopathic intestinal pseudoobstruction.

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BACKGROUND Chronic idiopathic intestinal pseudoobstruction (CIIPO) is a rare syndrome with an obscure pathogenesis. The proto-oncogene c-kit encodes a transmembrane tyrosine kinase receptor C-KIT that is critical for the development of the interstitial cells of Cajal, cells that are regarded as

Activity-dependent regulation of tyrosine hydroxylase expression in the enteric nervous system.

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The regulation of neuromediator expression by neuronal activity in the enteric nervous system (ENS) is currently unknown. Using primary cultures of ENS derived from rat embryonic intestine, we have characterized the regulation of tyrosine hydroxylase (TH), a key enzyme involved in the synthesis of

Polymorphisms of the RET gene in hirschsprung disease, anorectal malformation and intestinal pseudo-obstruction in Taiwan.

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OBJECTIVE Mutations in the receptor tyrosine kinase RET gene are associated with Hirschsprung disease (HD), which is also known as congenital intestinal aganglionosis. We found an association with specific alleles in five single nucleotide polymorphism (SNP) sites of the RET gene in our HD

Altered enteric expression of the homeobox transcription factor Phox2b in patients with diverticular disease.

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Diverticular disease, a major gastrointestinal disorder, is associated with modifications of the enteric nervous system, encompassing alterations of neurochemical coding and of the tyrosine receptor kinase Ret/GDNF pathway. However, molecular factors underlying these changes remain to

Site-specific gene expression and localization of growth factor ligand receptors RET, GFRα1 and GFRα2 in human adult colon.

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Two of the glial-cell-line-derived neurotrophic factor (GDNF) family ligands (GFLs), namely GDNF and neurturin (NRTN), are essential neurotropic factors for enteric nerve cells. Signal transduction is mediated by a receptor complex composed of GDNF family receptor alpha 1 (GFRα1) for GDNF or GFRα2

Role of Interstitial Cells of Cajal and their relationship with the enteric nervous system.

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The term 'Interstitial cells of Cajal' (ICC) designates several groups of mesenchymal cells present along the gastro-intestinal tract (GI), in close association with smooth muscle cells and elements of the enteric nervous system (ENS). For years, transmission electron microscopy (TEM) has been the

[An autopsy case of extra-adrenal malignant pheochromocytoma].

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An autopsy case of an extra-adrenal malignant pheochromocytoma in a 34-year-old woman is reported. On laparotomy, many advanced stage malignant tumors originating from the paraganglia along the abdominal aorta were found to have invaded the lumbar vertebrae. After a partial resection, Co60 radiation

Neuropilin 1 is essential for gastrointestinal smooth muscle contractility and motility in aged mice.

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OBJECTIVE Neuropilin 1 (NRP1) is a non-tyrosine kinase receptor for vascular endothelial growth factor (VEGF) and class 3 semaphorins, playing a role in angiogenesis and neuronal axon guidance, respectively. NRP1 is expressed in smooth muscle cells (SMC) but the functional role of NRP1 in SMC has

Neurologic crises in hereditary tyrosinemia.

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Hereditary tyrosinemia results from an inborn error in the final step of tyrosine metabolism. The disease is known to cause acute and chronic liver failure, renal Fanconi's syndrome, and hepatocellular carcinoma. Neurologic manifestations have been reported but not emphasized as a common problem. In

Disorders of interstitial cells of Cajal.

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Interstitial cells of Cajal (ICCs) have, in the past 2 decades, been recognised as important elements in the regulation of gastrointestinal motility. Specifically, they have been shown to be critical for the generation and propagation of electrical slow waves that regulate the phasic contractile

Requirement of c-kit for development of intestinal pacemaker system.

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A discovery that the protooncogene encoding the receptor tyrosine kinase, c-kit, is allelic with the Dominant white spotting (W) locus establishes that c-kit plays a functional role in the development of three cell lineages, melanocyte, germ cell, and hematopoietic cell which are defective in W

Absence of the interstitial cell of Cajal network in mitochondrial neurogastrointestinal encephalomyopathy.

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Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare autosomal-recessive multisystemic disorder with predominant gastrointestinal involvement, presenting with variable degrees of gut dysmotility up to frank chronic intestinal pseudoobstruction. Despite major advances in

The expanding phenotypes of cohesinopathies: one ring to rule them all!

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Preservation and development of life depend on the adequate segregation of sister chromatids during mitosis and meiosis. This process is ensured by the cohesin multi-subunit complex. Mutations in this complex have been associated with an increasing number of diseases, termed cohesinopathies. The

Alpha-synuclein immunopositive aggregates in the myenteric plexus of the aging Fischer 344 rat.

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Dystrophic axons and terminals are common in the myenteric plexus and smooth muscle of the gastrointestinal (GI) tract of aged rats. In young adult rats, alpha-synuclein in its normal state is abundant throughout the myenteric plexus, making this protein-which is prone to fibrillization-a candidate

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