Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0451641 (urolithiasis)
 3,973 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Constitutional loss or inactivation of one copy of a tumor-suppressor gene, as exemplified by hereditary retinoblastoma, increases the propensity for malignancies by reducing the number of events necessary for the complete loss of the negative regulatory function. We developed a selectable mutation assay employing a human lymphoblastoid cell line (LCL) derived from a heterozygous carrier of 2,8-dihydroxyadenine urolithiasis, adenine phosphoribosyltransferase (APRT) deficiency, for dissecting the second step in loss-of-function mutations and for determining the potential of physical and chemical agents for producing such mutations. The mode of mutational events arising in the wild-type allele of the functionally heterozygous APRT gene resembled that reported for tumor-suppressor genes in malignancies in that mitotic non-disjunctions or recombinations as well as deletions prevailed. Ultraviolet light (UV) was much less efficient in inducing these types of mutations than ionizing radiation. A group of autosomal recessive cancer-prone diseases, including xeroderma pigmentosum (XP), has been characterized as being more susceptible to genomic insults, owing to some defects in DNA processing, such as replication, repair, or recombination. This increased genomic instability may accelerate the gain-of-function mutation at a proto-oncogene and/or the loss-of-function mutation at a tumor-suppressor gene. XP complementation group A (XP-A) LCLs were extremely sensitive to UV-mutagenesis at the hypoxanthine phosphoribosyltransferase (HPRT) locus even at equicytotoxic doses. Some unique mechanism may operate in UV-mutagenesis in XP-A. We have succeeded for the first time in rendering XP-A cells tumorigenic in athymic mice by applying multiple exposures to UV and subsequent treatment with TPA.(ABSTRACT TRUNCATED AT 250 WORDS)
J Dermatol 1992 Nov
PMID:Molecular bases for hereditary cancer-prone diseases. 129 55

Androgenetic alopecia (AGA) and benign prostatic hyperplasia (BPH) are both androgen-dependent disorders, displaying in situ high levels of dihydrotestosterone with a good therapeutic response to finasteride. Embryological development of both the hair follicle and the prostate depends on mesenchymal-epithelial interaction, which is influenced by the expression of type 2 5alpha-reductase. The aim of this study was to elucidate the association between the size of the prostate gland and the prevalence and severity of AGA. A total of 46 patients age between 56 and 87 years were retrospectively recruited. They fulfilling the clinical diagnosis of BPH defined as (1) prostate volume > 30 cm3, measured by transrectal ultrasound, (2) maximal urine flow rate < 15 ml/s and mean urine flow rate < 10 ml/s, and (3) prostate serum albumin < 10 ng/ml. The control group comprised 34 patients aged between 49 and 81 years with urogenital infection, cystitis or urolithiasis. The expression and severity of AGA were evaluated by dermatologists using modified Norwood/Hamilton classification. Patients with a prostate volume > 30 cm3 had a higher prevalence of AGA than patients with a smaller prostate (< 30 cm3) (83.3% vs 61.3%; P < 0.05). The prostate size, however, did not correlate with the severity of AGA in either group or in the whole patient group. The prevalence of AGA was not significantly different in patients with or without BPH (85.7% vs 70.6%). The prostate was slightly larger among patients with AGA than among those without AGA (mean+/-SD 42.7+/-17.4 vs 35.4+/-14.9 cm3), but this was not statistically significant. There was no significant correlation between the age of onset of AGA and the development of BPH. Our results suggest that a larger prostate is associated with a higher prevalence of AGA. It remains to be seen if long-term use of finasteride in AGA patients will prophylactically lower the incidence of BPH.
Arch Dermatol Res 2004 Nov
PMID:Patients with a large prostate show a higher prevalence of androgenetic alopecia. 1551 24