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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
MeSH Review

Genetic Screening

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Disease relevance of Genetic Screening


Psychiatry related information on Genetic Screening

  • As an example of behavioral science's contribution to translational research, behavioral issues in genetic screening for cancer risk are outlined based on the experience of several families with the BRCA1 genetic marker and patients with Huntington's disease [6].

High impact information on Genetic Screening

  • Isoform-specific rescue experiments reveal separate functions for the various RhoGEF-2-containing UNC-73 isoforms, which would not likely be discovered by conventional genetic screening [7].
  • CONTEXT: Population-based estimates of the prevalence of disease-associated mutations, such as hemochromatosis (HFE) gene mutations, are needed to determine the usefulness of genetic screening [8].
  • Our genetic screening identified the MCK1 gene, which encodes a glycogen synthetase kinase-3 family protein kinase, as a component of the Ca2+ signaling pathway [9].
  • Through targeted disruption and genetic screening, an increasing number of genes have been identified that are likely to have a role in steroid receptor action [10].
  • Identification of drICE should facilitate the elucidation of upstream regulators and downstream targets of caspases by genetic screening [11].

Chemical compound and disease context of Genetic Screening


Biological context of Genetic Screening

  • In light of the recent identification of mutations in the PRKAR1A gene, an estimate of penetrance and recommendations for genetic screening are provided [14].
  • In our view, the apparently high prevalence of the IVS14+1G>A mutation in the normal population, with 1.8% heterozygotes, warrants genetic screening for the presence of this mutation in cancer patients before the administration of 5FU [15].
  • Design and Subjects: Genetic screening of 166 unrelated patients with idiopathic POF (25 PA, 141 SA) and controls (group A: 95 women with menopause beyond 50 yr of age; group B: 86 women and 30 men from the general population) of Caucasian origin [16].
  • We recently reported genome-wide bi-allelic mutagenesis and phenotype-based genetic screening by tetracycline-regulated disruption of the Bloom's syndrome gene (Blm) in mouse embryonic stem (ES) cells [17].
  • Germline mutations in the RET protooncogene have been identified in families manifesting these syndromes and genetic screening of individuals at risk of one of these syndromes has become integral to their clinical management [18].

Anatomical context of Genetic Screening

  • We used a genetic screening methodology, a human cell line bearing a retinoic-acid-responsive enhanced GFP reporter, and a flow sorter to recover dominant modulators of reporter expression [19].
  • The genetic screening was carried out on DNA extracted from peripheral lymphocytes and amplified by the polymerase chain reaction [20].
  • This protocol may be applied to genetic screening for many single defective genes of biopsied single blastomeres from preimplantation in vitro fertilization (IVF) embryos [21].
  • To carry out the genetic screening for the common mutation in the first tyrosine kinase domain (TK1) of the fibroblast growth factor receptor 3 gene (FGFR3) in a Russian population, a cohort of 16 patients with hypochondroplasia diagnosed previously were studied, among them twelve familial cases and four sporadic cases [22].

Associations of Genetic Screening with chemical compounds


Gene context of Genetic Screening

  • In conclusion, we propose that, on the basis of our results, genetic screening for PRKCSH gene mutations should be limited to patients either with a positive family history for PCLD or who have severe polycystic liver disease [28].
  • Because an accurate diagnosis in patients with recurrent inflammatory syndromes is crucial for proper clinical management and treatment, genetic screening for TNFRSF1A is warranted [29].
  • One of these protein factors, hPMC2 (human homolog of Xenopus gene which prevents mitotic catastrophe), directly binds to the EpRE and interacts with the ER in yeast genetic screening and in vitro assays [30].
  • METHODS: As part of our ongoing genetic screening, mutation analysis of the CACNA1A gene was performed by single-strand conformational polymorphism analysis in 33 probands of families with FHM [31].
  • Genetic screening of 15 unassigned HPS patients yielded six new HPS5 mutations in four patients [32].

Analytical, diagnostic and therapeutic context of Genetic Screening


  1. Molecular basis of the human dihydropyrimidine dehydrogenase deficiency and 5-fluorouracil toxicity. Wei, X., McLeod, H.L., McMurrough, J., Gonzalez, F.J., Fernandez-Salguero, P. J. Clin. Invest. (1996) [Pubmed]
  2. Role of parkin mutations in 111 community-based patients with early-onset parkinsonism. Kann, M., Jacobs, H., Mohrmann, K., Schumacher, K., Hedrich, K., Garrels, J., Wiegers, K., Schwinger, E., Pramstaller, P.P., Breakefield, X.O., Ozelius, L.J., Vieregge, P., Klein, C. Ann. Neurol. (2002) [Pubmed]
  3. Screening for ryanodine receptor type 2 mutations in families with effort-induced polymorphic ventricular arrhythmias and sudden death: early diagnosis of asymptomatic carriers. Bauce, B., Rampazzo, A., Basso, C., Bagattin, A., Daliento, L., Tiso, N., Turrini, P., Thiene, G., Danieli, G.A., Nava, A. J. Am. Coll. Cardiol. (2002) [Pubmed]
  4. A quality control study of CFTR mutation screening in 40 different European laboratories. The European Concerted Action on Cystic Fibrosis. Cuppens, H., Cassiman, J.J. Eur. J. Hum. Genet. (1995) [Pubmed]
  5. Isolation of DNA damage-inducible promoters in Escherichia coli: regulation of polB (dinA), dinG, and dinH by LexA repressor. Lewis, L.K., Jenkins, M.E., Mount, D.W. J. Bacteriol. (1992) [Pubmed]
  6. Behavioral science in translational research and cancer control. Morrow, G.R., Bellg, A.J. Cancer (1994) [Pubmed]
  7. The UNC-73/Trio RhoGEF-2 domain is required in separate isoforms for the regulation of pharynx pumping and normal neurotransmission in C. elegans. Steven, R., Zhang, L., Culotti, J., Pawson, T. Genes Dev. (2005) [Pubmed]
  8. Prevalence of C282Y and H63D mutations in the hemochromatosis (HFE) gene in the United States. Steinberg, K.K., Cogswell, M.E., Chang, J.C., Caudill, S.P., McQuillan, G.M., Bowman, B.A., Grummer-Strawn, L.M., Sampson, E.J., Khoury, M.J., Gallagher, M.L. JAMA (2001) [Pubmed]
  9. GSK-3 kinase Mck1 and calcineurin coordinately mediate Hsl1 down-regulation by Ca2+ in budding yeast. Mizunuma, M., Hirata, D., Miyaoka, R., Miyakawa, T. EMBO J. (2001) [Pubmed]
  10. Bakers yeast rises to the challenge: reconstitution of mammalian steroid receptor signalling in S. cerevisiae. McEwan, I.J. Trends Genet. (2001) [Pubmed]
  11. Identification of a Drosophila melanogaster ICE/CED-3-related protease, drICE. Fraser, A.G., Evan, G.I. EMBO J. (1997) [Pubmed]
  12. Hydroxyurea in the treatment of major beta-thalassemia and importance of genetic screening. Alebouyeh, M., Moussavi, F., Haddad-Deylami, H., Vossough, P. Ann. Hematol. (2004) [Pubmed]
  13. Prevalence of erythrocyte pyruvate kinase deficiency and normal values of enzyme in a Turkish population. Akin, H., Baykal-Erkiliç, A., Aksu, A., Yücel, G., Gümüşlü, S. Hum. Hered. (1997) [Pubmed]
  14. Clinical and molecular features of the Carney complex: diagnostic criteria and recommendations for patient evaluation. Stratakis, C.A., Kirschner, L.S., Carney, J.A. J. Clin. Endocrinol. Metab. (2001) [Pubmed]
  15. Lethal outcome of a patient with a complete dihydropyrimidine dehydrogenase (DPD) deficiency after administration of 5-fluorouracil: frequency of the common IVS14+1G>A mutation causing DPD deficiency. van Kuilenburg, A.B., Muller, E.W., Haasjes, J., Meinsma, R., Zoetekouw, L., Waterham, H.R., Baas, F., Richel, D.J., van Gennip, A.H. Clin. Cancer Res. (2001) [Pubmed]
  16. Identification of New Variants of Human BMP15 Gene in a Large Cohort of Women with Premature Ovarian Failure. Di Pasquale, E., Rossetti, R., Marozzi, A., Bodega, B., Borgato, S., Cavallo, L., Einaudi, S., Radetti, G., Russo, G., Sacco, M., Wasniewska, M., Cole, T., Beck-Peccoz, P., Nelson, L.M., Persani, L. J. Clin. Endocrinol. Metab. (2006) [Pubmed]
  17. Bloom's syndrome gene-deficient phenotype in mouse primary cells induced by a modified tetracycline-controlled trans-silencer. Hayakawa, T., Yusa, K., Kouno, M., Takeda, J., Horie, K. Gene (2006) [Pubmed]
  18. Medullary thyroid carcinoma: recent advances and management update. Marsh, D.J., Learoyd, D.L., Robinson, B.G. Thyroid (1995) [Pubmed]
  19. Genetic selection for modulators of a retinoic-acid-responsive reporter in human cells. Richards, B., Karpilow, J., Dunn, C., Peterson, I., Maxfield, A., Zharkikh, L., Abedi, M., Hurlburt, A., Hardman, J., Hsu, F., Li, W., Rebentisch, M., Sandrock, R., Sandrock, T., Kamb, A., Teng, D.H. Genetics (2003) [Pubmed]
  20. Cystic fibrosis mutations impair the fertilization rate of epididymal sperm from men with congenital absence of the vas deferens. Patrizio, P., Ord, T., Silber, S.J., Asch, R.H. Hum. Reprod. (1993) [Pubmed]
  21. Cost-effective screening methods for various single gene defects in single cells using high magnesium and total ionic strength and restriction enzymes. Tsai, Y.H. Prenat. Diagn. (2000) [Pubmed]
  22. A missense mutation of C1659 in the fibroblast growth factor receptor 3 gene in Russian patients with hypochondroplasia. Fofanova, O.V., Takamura, N., Kinoshita, E., Meerson, E.M., Iljina, V.K., Nechvolodova, O.L., Evgrafov, O.V., Peterkova, V.A., Yamashita, S. Endocr. J. (1998) [Pubmed]
  23. Selection of suppressor methionyl-tRNA synthetases: mapping the tRNA anticodon binding site. Meinnel, T., Mechulam, Y., Le Corre, D., Panvert, M., Blanquet, S., Fayat, G. Proc. Natl. Acad. Sci. U.S.A. (1991) [Pubmed]
  24. Genetic dissection of pancreatic trypsin inhibitor. Goldenberg, D.P., Berger, J.M., Laheru, D.A., Wooden, S., Zhang, J.X. Proc. Natl. Acad. Sci. U.S.A. (1992) [Pubmed]
  25. A mutation in the human phospholamban gene, deleting arginine 14, results in lethal, hereditary cardiomyopathy. Haghighi, K., Kolokathis, F., Gramolini, A.O., Waggoner, J.R., Pater, L., Lynch, R.A., Fan, G.C., Tsiapras, D., Parekh, R.R., Dorn, G.W., MacLennan, D.H., Kremastinos, D.T., Kranias, E.G. Proc. Natl. Acad. Sci. U.S.A. (2006) [Pubmed]
  26. Suppressor mutations in the chloroplast-encoded large subunit improve the thermal stability of wild-type ribulose-1,5-bisphosphate carboxylase/oxygenase. Du, Y.C., Spreitzer, R.J. J. Biol. Chem. (2000) [Pubmed]
  27. Identification of a gene involved in the generation of 4-thiouridine in tRNA. Mueller, E.G., Buck, C.J., Palenchar, P.M., Barnhart, L.E., Paulson, J.L. Nucleic Acids Res. (1998) [Pubmed]
  28. Abnormal hepatocystin caused by truncating PRKCSH mutations leads to autosomal dominant polycystic liver disease. Drenth, J.P., Tahvanainen, E., te Morsche, R.H., Tahvanainen, P., Kääriäinen, H., Höckerstedt, K., van de Kamp, J.M., Breuning, M.H., Jansen, J.B. Hepatology (2004) [Pubmed]
  29. The enlarging clinical, genetic, and population spectrum of tumor necrosis factor receptor-associated periodic syndrome. Dodé, C., André, M., Bienvenu, T., Hausfater, P., Pêcheux, C., Bienvenu, J., Lecron, J.C., Reinert, P., Cattan, D., Piette, J.C., Szajnert, M.F., Delpech, M., Grateau, G. Arthritis Rheum. (2002) [Pubmed]
  30. Identification and characterization of a novel factor that regulates quinone reductase gene transcriptional activity. Montano, M.M., Wittmann, B.M., Bianco, N.R. J. Biol. Chem. (2000) [Pubmed]
  31. Expanding the phenotypic spectrum of the CACNA1A gene T666M mutation: a description of 5 families with familial hemiplegic migraine. Kors, E.E., Haan, J., Giffin, N.J., Pazdera, L., Schnittger, C., Lennox, G.G., Terwindt, G.M., Vermeulen, F.L., Van den Maagdenberg, A.M., Frants, R.R., Ferrari, M.D. Arch. Neurol. (2003) [Pubmed]
  32. Cellular, molecular and clinical characterization of patients with Hermansky-Pudlak syndrome type 5. Huizing, M., Hess, R., Dorward, H., Claassen, D.A., Helip-Wooley, A., Kleta, R., Kaiser-Kupfer, M.I., White, J.G., Gahl, W.A. Traffic (2004) [Pubmed]
  33. Rapid genetic screening for hemochromatosis using automated SSCP-based capillary electrophoresis (SSCP-CE). Bosserhoff, A.K., Seegers, S., Hellerbrand, C., Schölmerich, J., Büttner, R. BioTechniques (1999) [Pubmed]
  34. Video assisted prophylactic thyroidectomy and central compartment nodes clearance in two RET gene mutation adult carriers. Miccoli, P., Elisei, R., Berti, P., Materazzi, G., Agate, L., Castagna, M.G., Cosci, B., Faviana, P., Ugolini, C., Pinchera, A. J. Endocrinol. Invest. (2004) [Pubmed]
  35. Cancers connected with mutations in RET proto-oncogene. Altanerová, V. Neoplasma (2001) [Pubmed]
  36. Gynecologic surgeries and risk of ovarian cancer in women with BRCA1 and BRCA2 Ashkenazi founder mutations: an Israeli population-based case-control study. Rutter, J.L., Wacholder, S., Chetrit, A., Lubin, F., Menczer, J., Ebbers, S., Tucker, M.A., Struewing, J.P., Hartge, P. J. Natl. Cancer Inst. (2003) [Pubmed]
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