Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0403608 (ureter)
 9,655 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The appearance of a polar metabolite of 25-hydroxychotecalciferol has been studied in the intestinal mucosas of nephrectomized rats and rats which have been made uremic by ureter ligation. In confirmation of previous work by Fraser and Kodicek, it was found that nephrectomy prevents the appearance of this metabolite in the intestine. On the other hand, equivalent amounts of the metabolite were found in uremic rats and in sham-operated controls, showing that the production of this metabolite is independent of the uremic state of the animals. In addition, it was shown that the metabolite produced in vitro by kidney homogenates is identical to that found in vivo in the intestine.
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PMID:Vitamin D metabolism: the role of kidney tissue. 432 4

We describe a 20-year-old 46,XY woman, with clinical findings of Fraser syndrome and three mitochondrial DNA (mtDNA) mutations of Leber hereditary optic neuropathy. The patient had microphthalmia, blindness, widely spaced nipples, bifid ureter, syndactyly of the toes, and mental retardation. Sonography showed the presence of a uterus and intra-abdominal gonads. The proband was screened for mtDNA mutations because of chronic gastrointestinal pseudo-obstruction, urinary tract dysmotility, seizures, mental retardation and persistent macrocytosis, as well as the intermittent elevation of methylmalonic acid. Analysis of point mutations by multiplex polymerase chain reaction and allele-specific oligonucleotide dot-blot hybridization revealed three homoplasmic mtDNA mutations, T14484C, T4216C, and T3394C. This represents a unique case with sex reversal, Fraser-like syndrome, and mitochondrial disease.
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PMID:Mitochondrial DNA mutations in a patient with sex reversal and clinical features consistent with Fraser syndrome. 1569 63