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PAICS  -  phosphoribosylaminoimidazole carboxylase,...

Homo sapiens

Synonyms: ADE2, ADE2H1, AIRC, Multifunctional protein ADE2, PAIS
 
 
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Disease relevance of PAICS

 

Psychiatry related information on PAICS

  • METHOD: Forty-one parent caregivers of an adult married cancer-diagnosed child completed a questionnaire that measured psychological adjustment (Brief Symptom Inventory, BSI), psychosocial adjustment to illness (Psychosocial Adjustment to Illness Scale, PAIS) and social support (MSSPS) [5].
 

High impact information on PAICS

  • To determine the molecular basis of the phenotypic diversity in AIS, we have studied 27 subjects (13 CAIS, 14 PAIS), spanning the full range of AIS phenotypes [6].
  • Two of these clones, designated B9 and E4, were later identified as corresponding to genes coding for the putative ribosomal protein S18 and the bifunctional enzyme ADE2H1 involved in purine biosynthesis, respectively [7].
  • The human genes GPAT, encoding the amidotransferase, and AIRC, encoding a bifunctional enzyme for steps six and seven in the pathway, were cloned and characterized [8].
  • To test the effectiveness of RNAi in Histoplasma, we depleted expression of a gfp transgene as well as two endogenous genes, ADE2 and URA5, and showed significant reductions in corresponding gene function [9].
  • Before definite sex assignment, a testosterone treatment trial should be performed in all patients with PAIS, but it becomes crucial when an AR mosaicism has been detected [1].
 

Chemical compound and disease context of PAICS

 

Biological context of PAICS

 

Anatomical context of PAICS

  • The testes were palpable in the labioscrotal folds or the inguinal region in 77% and 41% of cases of CAIS and PAIS, respectively [15].
  • The phenotype may range from partial AIS (PAIS) with ambiguous genitalia to complete AIS (CAIS) with female genitalia [1].
  • We studied RFLPs of DNA from 25 46,XY patients with partial AIS (PAIS), defined as a concentration of androgen receptor in genital-skin fibroblasts less than 340 fmol/mg DNA, and DNA from 27 46,XY patients with complete AIS (CAIS) with no detectable androgen receptor site [16].
 

Associations of PAICS with chemical compounds

  • GPAT and AIRC encode enzymes for steps one and six plus seven respectively in the pathway for de novo purine nucleotide synthesis in vertebrates [12].
  • Km values obtained for partial and complete androgen insensitivity syndrome (PAIS and CAIS) patient cell strains were all within the normal range [17].
  • The adenine auxotrophic mutants, which were readily isolated after UV irradiation of C. albicans CA12, were proved to be the segregants of mitotic recombination as they remained as diploid, not hemizygous or haploid, cells and were homozygous for ade2 [18].
  • Data were collected using interviews, medical records, and standardized instruments (e.g., PAIS, BSI, EDI) at a mean of 19 months post-treatment onset for 73 subjects who received either chemotherapy, tamoxifen, or radiation after definitive surgery [19].
 

Analytical, diagnostic and therapeutic context of PAICS

  • The woman had good analgesia on the left side, but complained of severe labor pais on her right side [20].

References

  1. Androgen insensitivity syndrome: somatic mosaicism of the androgen receptor in seven families and consequences for sex assignment and genetic counseling. Köhler, B., Lumbroso, S., Leger, J., Audran, F., Grau, E.S., Kurtz, F., Pinto, G., Salerno, M., Semitcheva, T., Czernichow, P., Sultan, C. J. Clin. Endocrinol. Metab. (2005) [Pubmed]
  2. Clinical, hormonal, behavioral, and genetic characteristics of androgen insensitivity syndrome in a Brazilian cohort: five novel mutations in the androgen receptor gene. Melo, K.F., Mendonca, B.B., Billerbeck, A.E., Costa, E.M., Inácio, M., Silva, F.A., Leal, A.M., Latronico, A.C., Arnhold, I.J. J. Clin. Endocrinol. Metab. (2003) [Pubmed]
  3. The testosterone:androstenedione ratio in male undermasculinization. Faisal Ahmed S, n.u.l.l., Iqbal, A., Hughes, I.A. Clin. Endocrinol. (Oxf) (2000) [Pubmed]
  4. Influence of urological morbidity on quality of life in patients with prostate cancer. Fosså, S.D., Woehre, H., Kurth, K.H., Hetherington, J., Bakke, H., Rustad, D.A., Skånvik, R. Eur. Urol. (1997) [Pubmed]
  5. Parent caregiver adjustment to cancer of an adult child. Gilbar, O. Journal of psychosomatic research. (2002) [Pubmed]
  6. Androgen receptor gene mutations identified by SSCP in fourteen subjects with androgen insensitivity syndrome. Batch, J.A., Williams, D.M., Davies, H.R., Brown, B.D., Evans, B.A., Hughes, I.A., Patterson, M.N. Hum. Mol. Genet. (1992) [Pubmed]
  7. Identification of genes overexpressed in tumors through preferential expression screening in trophoblasts. Chassin, D., Bénifla, J.L., Delattre, C., Fernandez, H., Ginisty, D., Janneau, J.L., Prade, M., Contesso, G., Caillou, B., Tournaire, M. Cancer Res. (1994) [Pubmed]
  8. Two genes for de novo purine nucleotide synthesis on human chromosome 4 are closely linked and divergently transcribed. Brayton, K.A., Chen, Z., Zhou, G., Nagy, P.L., Gavalas, A., Trent, J.M., Deaven, L.L., Dixon, J.E., Zalkin, H. J. Biol. Chem. (1994) [Pubmed]
  9. RNA interference in Histoplasma capsulatum demonstrates a role for alpha-(1,3)-glucan in virulence. Rappleye, C.A., Engle, J.T., Goldman, W.E. Mol. Microbiol. (2004) [Pubmed]
  10. Heavy metals enhance the reactivation of nitrous acid-treated adenovirus in HeLa cells. Piperakis, S.M. Mutat. Res. (1995) [Pubmed]
  11. Enhanced reactivation of UV-irradiated adenovirus 2 is not associated with enhanced mutagenesis in carcinogen-pretreated HeLa cells. Piperakis, S.M. Mutat. Res. (1987) [Pubmed]
  12. Role of NRF-1 in bidirectional transcription of the human GPAT-AIRC purine biosynthesis locus. Chen, S., Nagy, P.L., Zalkin, H. Nucleic Acids Res. (1997) [Pubmed]
  13. Gene replacement in the lignin-degrading basidiomycete Phanerochaete chrysosporium. Alic, M., Akileswaran, L., Gold, M.H. Gene (1993) [Pubmed]
  14. DNA methylation in reptiles. Varriale, A., Bernardi, G. Gene (2006) [Pubmed]
  15. Phenotypic features, androgen receptor binding, and mutational analysis in 278 clinical cases reported as androgen insensitivity syndrome. Ahmed, S.F., Cheng, A., Dovey, L., Hawkins, J.R., Martin, H., Rowland, J., Shimura, N., Tait, A.D., Hughes, I.A. J. Clin. Endocrinol. Metab. (2000) [Pubmed]
  16. Molecular analysis of the androgen receptor gene in 52 patients with complete or partial androgen insensitivity syndrome: a collaborative study. Lobaccaro, J.M., Belon, C., Chaussain, J.L., Job, J.C., Toublanc, J.E., Battin, J., Rochiccioli, P., Bernasconi, S., Bost, M., Bozzola, M. Horm. Res. (1992) [Pubmed]
  17. Aromatase activity in genital skin fibroblasts from normal and androgen-insensitive individuals. Stillman, S.C., Evans, B.A., Hughes, I.A. J. Endocrinol. (1990) [Pubmed]
  18. Loss of heterozygosity, by mitotic gene conversion and crossing over, causes strain-specific adenine mutants in constitutive diploid Candida albicans. Tsang, P.W., Cao, B., Siu, P.Y., Wang, J. Microbiology (Reading, Engl.) (1999) [Pubmed]
  19. Weight gain in patients with breast cancer receiving adjuvant treatment as a function of restraint, disinhibition, and hunger. DeGeorge, D., Gray, J.J., Fetting, J.H., Rolls, B.J. Oncology nursing forum. (1990) [Pubmed]
  20. Delay in the diagnosis of rupture of the uterus due to epidural anesthesia in labor. Abraham, R., Sadovsky, E. Gynecol. Obstet. Invest. (1992) [Pubmed]
 
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