Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:P06889 (Mol)
 630,302 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A study has been made of urinary peptide output in rats before and after production of a Fanconi syndrome induced by a single injection of sodium maleate. There was an unequivocal increase of urinary peptides on the first and second days after the injection, without any detectable change in the concentration of plasma peptides. 2. Similar results were obtained in osteolathyritic rats in which skeletal lesions had been produced by ingestion of beta-aminopropionitrile. 3. The fractional amino acid content of urinary peptides after maleate and beta-aminopropionitrile is shown to be significantly different from that in control animals. 4. Evidence is presented that the increased output of peptides is mainly due to increased renal clearance similar to that previously described for amino acids, glucose and several electrolytes in this type of experimental Fanconi syndrome.
Clin Sci Mol Med 1978 Aug
PMID:Peptide excretion in experimental Fanconi syndrome in the rat. 67 29

Recent linkage studies located genes responsible for the low voltage EEG, benign neonatal convulsions and for the Fanconi anaemia to the vicinity of the VNTR marker CMM6 (D20S19). Physical mapping experiments using pulsefield electrophoresis in the distal part of chromosome 20q were chosen as a first step towards cloning of these genes. The observed pattern of shared fragments lead to the locus order 'tel-IP20K09-RMR6-CMM6-MS214-cen', which differs from previously reported genetic linkage maps. The physical intervals between these probes are markedly shorter compared with the genetic distances. Clusters of rare cutter sites around CMM6 point to at least four closely related CpG islands.
Hum Mol Genet 1992 Aug
PMID:D20S19, linked to low voltage EEG, benign neonatal convulsions, and Fanconi anaemia, maps to a region of enhanced recombination and is localized between CpG islands. 130 9

Nephropathic cystinosis is an inherited disorder characterized by a high intralysosomal accumulation of cystine due to a defect in lysosomal cystine transport. Cystine can be specifically loaded into the lysosomal compartment of intact cells by incubating cells with cystine dimethyl ester (CDME). We have applied this methyl ester loading technique to develop a selection method that is highly cytotoxic for cystinotic fibroblasts but not normal human fibroblasts and that is based on the inherent differences in lysosomal cystine transport activity of normal and cystinotic fibroblasts. Thus, only 0-0.03% of fetal cystinotic fibroblasts survive exposure to 2 mM CDME for 20 min whereas 70-80% of normal fetal fibroblasts survive these same conditions. Following transfection of cystinotic fibroblasts with normal human genomic DNA or cDNA, this CDME selection method can be used to select for those cells that have been transformed to the normal phenotype and thus aid in the identification of the gene coding for the lysosomal cystine transport protein.
Somat Cell Mol Genet 1992 Jan
PMID:Description of a selection method highly cytotoxic for cystinotic fibroblasts but not normal human fibroblasts. 154 66

Fanconi anemia (FA) is an autosomal recessive disorder characterized by chromosomal instability and abnormalities in the processing of DNA lesions induced by cross-linking agents. We previously reported that after photoaddition of psoralen derivatives the frequency of HPRT- mutants was significantly lower in FA than in normal human lymphoblasts. The hypomutability in FA cells was shown to be associated with an increased deletion frequency at the HPRT gene level. Further characterization of 70 unrearranged mutants (without detectable changes in restriction enzyme fragment length) according to the HPRT gene expression is reported here. Northern blot hybridization analysis demonstrates considerable differences in mRNA phenotyping between normal and FA cells. In normal cells, the minority of spontaneous (31%) and psoralen-induced mutants (0% and 14% according to treatment) arise from mutations that alter the HPRT gene transcription. In contrast to normal cells, in the majority of mutants isolated from FA cells, HPRT gene expression is found to be affected. Indeed a large proportion of either spontaneous (67%) or psoralen-induced (56% and 46%) mutants did not produce detectable amounts of mRNA. These results suggest that the mutagenic processing of spontaneous and psoralen-photoinduced lesions differs in normal and FA cells.
Somat Cell Mol Genet 1991 Nov
PMID:HPRT gene expression differs in mutants derived from normal and Fanconi anemia cells: analysis of spontaneous and psoralen-photoinduced mutants. 168 31

We have used a host cell reactivation system to study the effect of 8-methoxypsoralen (8-MOP) reaction on CAT (chloramphenicol acetyltransferase) and NEO (aminoglycoside phosphotransferase) expression in normal human cells, as well as two cell lines with possible DNA repair-processing defects. Plasmid DNA was treated with psoralen plus near-ultraviolet (NUV) irradiation. The reacted plasmids, pSV2cat and pSV2neo, were transfected into Fanconi anemia (FA), xeroderma pigmentosum (XP), and normal human fibroblast cells for transient or stable assay. The cells were assayed for CAT activity at various times after transfection or selected for G418 resistance. The extent of adduct formation required to inhibit expression was much less (difference of D37 greater than 2.5) in FA or XP cells compared to normal. We conclude that in FA and XP cells, the reactivation of CAT was much less than in normal cells. The possibility of differential DNA uptake and/or degradation in transient assay was ruled out by analysis of plasmid DNA recovered from transfected cells. The data of the two independent assays indicate that FA and XP cells are deficient in cross-linked DNA repair.
Somat Cell Mol Genet 1991 May
PMID:Reactivation of psoralen-reacted plasmid DNA in Fanconi anemia, xeroderma pigmentosum, and normal human fibroblast cells. 204 39

The prognostic value of EGF-R, IGF-1-R and SS-R, and of cytosolic estrogen-regulated pS2 protein, was studied in patients (pts) with primary breast and advanced ovarian cancer. Ovarian cancer tissues were negative for pS2 (by immunoradiometric assay) IGF-1-R and EGF-R contents (by ligand binding assay, LBA) were of no or moderate prognostic value for breast cancer pts (n = 214). For advanced ovarian cancer pts, EGF-R content determined by LBA (n = 55) showed no prognostic value, whereas EGF-R status (n = 35) determined by immunohistochemistry (MoAb 2E9) significantly correlated with progression of disease (P less than 0.05). In breast cancer pts, both SS-R and pS2 showed no association with tumor size, nodal status and grade. For pS2 the best cut-off level with respect to relapse-free (RFS) and overall survival (OS) was found to be 11 ng/mg protein. Both SS-R (1 g% SS-R+, n = 135; P less than 0.04) and pS2 (27% pS2+, n = 197; P less than 0.001), which were mainly positive in ER+ tumors, were of prognostic value, especially within the subgroups with ER+/PgR+ tumors. Also within N+ and No pts the 5-yr RFS and OS showed a difference between pS2+ and pS2- (33 and 54% for N+, and 31 and 13% difference for No pts). In summary, SS-R and pS2 are valuable prognosticators in breast cancer pts, and prognostic significance of EGF-R in ovarian cancer pts needs further study.
J Steroid Biochem Mol Biol 1990 Dec 20
PMID:Prognostic value of pS2 protein and receptors for epidermal growth factor (EGF-R), insulin-like growth factor-1 (IGF-1-R) and somatostatin (SS-R) in patients with breast and ovarian cancer. 217 64

It has been shown by genetic complementation analysis that a mitomycin C-sensitive mutant (V-H4) of Chinese hamster V79 cells is the first rodent equivalent of Fanconi anemia (FA) group A. The V-H4 mutant shows many typical characteristics of cells derived from FA patients. V-H4 cells exhibit increased sensitivity towards cross-linking agents as MMC (approximately 30-fold), cis-DDP (approximately 10-fold), DEB (approximately 10-fold), and PUVA (approximately 1.6-fold), but an only slightly increased sensitivity to monofunctional alkylating agents (EMS and MMS) and actinomycin D. V-H4 cells are also moderately sensitive to adriamycin (1.6-fold), and not sensitive to H2O2. The levels of chromosomal aberrations induced by MMC and cis-DDP treatment are higher (4- to 6-fold) in V-H4 cells than in the wild-type V79 cells. Genetic complementation analysis with other Chinese hamster mutants hypersensitive to MMC (irs1, irs1SF, UV20 and UV41) indicates clearly that V-H4 belongs to a different, new complementation group. This unique mutant is very stable and can serve as a vehicle to isolate the complementing FA-A gene from normal human DNA.
Somat Cell Mol Genet 1990 Nov
PMID:The Chinese hamster V79 cell mutant V-H4 is phenotypically like Fanconi anemia cells. 226 31

By comparing fibroblast strains derived from individuals exhibiting chromosome instability and/or mutagen hypersensitivity (Cockayne syndrome, ataxia telangiectasia, and Fanconi anemia) with strains derived from healthy donors, the fibroblast micronucleus assay has been established as a reproducible measure of the genotypic variation in spontaneous or mitomycin C (MMC)-induced chromosomal instability. The patient strains that were moderately or exquisitely sensitive to MMC, whereas the mildly sensitive strain (Cockayne syndrome) overlapped with the control range. The reproducibility of the assay was evaluated within and between experiments. Paired comparison analyses between duplicate cultures and between repeat experiments failed to show any significant differences between micronucleus frequencies within strains, whereas a significant differences in the spontaneous micronucleus frequencies between strains was observed. In addition to its value as a test system for genotoxins, the fibroblast micronucleus assay may be useful for investigating genetically determined hypersensitivity to mutagens, elevated spontaneous chromosomal breakage, and chromosome segregation errors.
Environ Mol Mutagen 1988
PMID:Micronucleus assay in human fibroblasts: a measure of spontaneous chromosomal instability and mutagen hypersensitivity. 313 7

Considerable variation can be observed in the clinical presentation of Fanconi anemia (FA) patients and in the degree of sensitivity of their cells to DNA damaging agents. We have examined the hypothesis that genetic heterogeneity underlies this variation by testing for complementation in somatic cell hybrids constructed from FA cells. Hybrids were formed by fusing lymphoblastoid cell lines derived from four different FA patients. Complementation of the cellular defects in FA was tested by examining sensitivity to growth inhibition by mitomycin C(MMC), spontaneous chromosome breakage, and MMC-induced chromosome breakage in the hybrid cells. These studies revealed the presence of at least two complementation groups, suggesting that there may be two or more different FA genes.
Somat Cell Mol Genet 1985 Jan
PMID:Identification of two complementation groups in Fanconi anemia. 391 52

The amino-terminal amino acid sequences of Bence Jones (BJ) proteins isolated from the urine specimens of two patients (JBL and PSM) with adult Fanconi syndrome were determined. Both BJ proteins JBL and PSM are of the VkI subclass. However, protein JBL contains tyrosine at position 14 whereas protein PSM contains glutamine at position 40. Neither tyrosine 14 nor glutamine 40 has previously been reported for immunoglobulin (Ig) L-chains of any species including humans, the mouse, rabbit, rat, guinea pig. pig, dog, chicken, turkey, and shark. In addition, protein JBL contains alanine 22 whereas protein PSM contains arginine 30. Both alanine 22 and arginine 30 have been only rarely found in Ig L-chains.
Mol Immunol 1982 Jan
PMID:Unique amino acid sequences of Bence Jones proteins in the urine of patients with adult Fanconi syndrome. 680 93


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