Science réglementaire : une internationalisation divergente ? L’évaluation des biotechnologies aux États-Unis et en Europe

Autor: Joly, Pierre-Benoit

Publikováno v: Revue française de sociologie, 2016 Jul 01. 57(3), 443-472.

Externí odkaz: https://www.jstor.org/stable/26376003

Desarrollo de un sistema genético inducible de expresión de la quinasa SGK1

Autor: Pozo Vinuesa, Elena

Las distintas isoformas de la proteína quinasa SGK1 participan en la regulación de numerosos procesos fisiopatológicos. Concretamente, la isoforma SGK1.1 regula la excitabilidad neuronal, reduciendo la duración e intensidad de crisis epilépticas

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http://riull.ull.es/xmlui/handle/915/28669

Diseño y predicción de promotores específicos de neuroblastoma

Autor: Raúl Torres Ruíz, Sandra Rodríguez Perales, Jorge Mínguez Martínez

Publikováno v: e_Buah Biblioteca Digital Universidad de Alcalá
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El neuroblastoma es una enfermedad infantil caracterizada por el desarrollo de tumores a partir de células cancerígenas del tejido nervioso de las glándulas suprarrenales. Existen marcadores genéticos para caracterizar, clasificar y diagnosticar

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https://hdl.handle.net/10017/41647

Studies of the Protein-protein interaction between the AtKAT1 potassium channel and its putative regulators

Autor: Aljama López, Sara

Publikováno v: RiuNet. Repositorio Institucional de la Universitat Politécnica de Valéncia
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[EN] Potassium is one of the most important cationic nutrients for all living organisms. Among its various roles, it takes part in plant stomatal aperture as it influences osmotic potential of the cells surrounding the stomata (guard cells). This dir

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https://hdl.handle.net/10251/86686

Estudio molecular en dos hermanas afectadas por ictiosis congénita autosómica recesiva : descripción de una nueva mutación causal en TGM1

Autor: Moreno Saboya, Meyid Bernardo

Publikováno v: Akiyama, M., Sawamura, D. & Shimizu, H. (2003a). The clinical spectrum of nonbullous congenital ichthyosiform erythroderma and lamellar ichthyosis. Clin Exp Dermatol 28(3): 235-240
Akiyama, M., Takizawa, Y., Suzuki, Y. & Shimizu, H. (2003b). A novel homozygous mutation 371delA in TGM1 leads to a classic lamellar ichthyosis phenotype. Br J Dermatol 148(1): 149-153
Ammirati, C. T. & Mallory, S. B. (1998). The major inherited disorders of cornification. New advances in pathogenesis. Dermatol Clin 16(3): 497-508
Aufenvenne, K., Oji, V., Walker, T., Becker-Pauly, C., Hennies, H. C., Stocker, W. & Traupe, H. (2009). Transglutaminase-1 and bathing suit ichthyosis: molecular analysis of gene/environment interactions. J Invest Dermatol 129(8): 2068-2071
Bai, J., Ding, Y. G., Wu, Y. H., Qiao, J. J. & Fang, H. (2015). Novel transglutaminase 1 mutations in a Chinese patient with severe lamellar ichthyosis phenotype. Indian J Dermatol Venereol Leprol 81(3): 292-294.
Bale, S. J. & Doyle, S. Z. (1994). The genetics of ichthyosis: a primer for epidemiologists. J Invest Dermatol 102(6): 49S-50S.
Beutler, E., Nguyen, N. J., Henneberger, M. W., Smolec, J. M., McPherson, R. A., West, C. & Gelbart, T. (1993). Gaucher disease: gene frequencies in the Ashkenazi Jewish population. Am J Hum Genet 52(1): 85-88.
Boeshans, K. M., Mueser, T. C. & Ahvazi, B. (2007). A three-dimensional model of the human transglutaminase 1: insights into the understanding of lamellar ichthyosis. J Mol Model 13(1): 233-246
Brocq, L. (1902). Erythrodermie congénitale ichthyosiforme avec hyperépidermotrophie. Ann Derm Syphiligr 3: 1-31
Brunak, S., Engelbrecht, J. & Knudsen, S. (1991). Prediction of human mRNA donor and acceptor sites from the DNA sequence. J Mol Biol 220(1): 49-65.
Burns, F. S. (1915). A case of generalized congenital keratoderma, with unusual involvement of the eyes, ears, and nasal and buccal mucous membranes. J Cutan Dis 33: 255-260.
Candi, E., Melino, G., Mei, G., Tarcsa, E., Chung, S. I., Marekov, L. N. & Steinert, P. M. (1995). Biochemical, structural, and transglutaminase substrate properties of human loricrin, the major epidermal cornified cell envelope protein. J Biol Chem 270(44): 26382-26390
Candi, E., Schmidt, R. & Melino, G. (2005). The cornified envelope: a model of cell death in the skin. Nat Rev Mol Cell Biol 6(4): 328-340
Chakravarty, R. & Rice, R. H. (1989). Acylation of keratinocyte transglutaminase by palmitic and myristic acids in the membrane Anchorage region. J Biol Chem 264(1): 625-629.
DiGiovanna, J. J. & Robinson-Bostom, L. (2003). Ichthyosis: etiology, diagnosis, and management. Am J Clin Dermatol 4(2): 81-95.
Divina, P., Kvitkovicova, A., Buratti, E. & Vorechovsky, I. (2009). Ab initio prediction of mutation-induced cryptic splice-site activation and exon skipping. Eur J Hum Genet 17(6): 759-765
Dreyfus, I., Chouquet, C., Ezzedine, K., Henner, S., Chiaverini, C., Maza, A., Pascal, S., Rodriguez, L., Vabres, P., Martin, L., Mallet, S., Barbarot, S., Dupuis, J. & Mazereeuw-Hautier, J. (2014). Prevalence of inherited ichthyosis in France: a study using capture-recapture method. Orphanet J Rare Dis 9: 1
Dror, G., Sorek, R. & Shamir, R. (2005). Accurate identification of alternatively spliced exons using support vector machine. Bioinformatics 21(7): 897-901
Eckl, K. M., de Juanes, S., Kurtenbach, J., Natebus, M., Lugassy, J., Oji, V., Traupe, H., Preil, M. L., Martinez, F., Smolle, J., Harel, A., Krieg, P., Sprecher, E. & Hennies, H. C. (2009). Molecular analysis of 250 patients with autosomal recessive congenital ichthyosis: evidence for mutation hotspots in ALOXE3 and allelic heterogeneity in ALOX12B. J Invest Dermatol 129(6): 1421-1428
Esposito, G., Tadini, G., Paparo, F., Viola, A., Ieno, L., Pennacchia, W., Messina, F., Giordano, L., Piccirillo, A. & Auricchio, L. (2007). Transglutaminase 1 deficiency and corneocyte collapse: an indication for targeted molecular screening in autosomal recessive congenital ichthyosis. Br J Dermatol 157(4): 808-810
Farasat, S., Wei, M. H., Herman, M., Liewehr, D. J., Steinberg, S. M., Bale, S. J., Fleckman, P. & Toro, J. R. (2009). Novel transglutaminase-1 mutations and genotype-phenotype investigations of 104 patients with autosomal recessive congenital ichthyosis in the USA. J Med Genet 46(2): 103-111.
Faustino, N. A. & Cooper, T. A. (2003). Pre-mRNA splicing and human disease. Genes Dev 17(4): 419-437.
Fischer, J. (2009). Autosomal recessive congenital ichthyosis. J Invest Dermatol 129(6): 1319-1321.
Folk, J. E. & Cole, P. W. (1966). Identification of a functional cysteine essential for the activity of guinea pig liver transglutaminase. J Biol Chem 241(13): 3238-3240.
Frost, P. & Van Scott, E. J. (1966). Ichthyosiform dermatoses. Classification based on anatomic and biometric observations. Arch Dermatol 94(2): 113-126.
Ghadially, R., Williams, M. L., Hou, S. Y. & Elias, P. M. (1992). Membrane structural abnormalities in the stratum corneum of the autosomal recessive ichthyoses. J Invest Dermatol 99(6): 755-763.
Hackett, B. C., Fitzgerald, D., Watson, R. M., Hol, F. A. & Irvine, A. D. (2010). Genotype-phenotype correlations with TGM1: clustering of mutations in the bathing suit ichthyosis and self-healing collodion baby variants of lamellar ichthyosis. Br J Dermatol 162(2): 448-451.
Herman, G. E. (2000). X-Linked dominant disorders of cholesterol biosynthesis in man and mouse. Biochim Biophys Acta 1529(1-3): 357-373.
Hernandez-Martin, A., Garcia-Doval, I., Aranegui, B., de Unamuno, P., Rodriguez-Pazos, L., Gonzalez-Ensenat, M. A., Vicente, A., Martin-Santiago, A., Garcia-Bravo, B., Feito, M., Baselga, E., Ciria, S., de Lucas, R., Ginarte, M., Gonzalez-Sarmiento, R. & Torrelo, A. (2012). Prevalence of autosomal recessive congenital ichthyosis: a population-based study using the capture-recapture method in Spain. J Am Acad Dermatol 67(2): 240-244
Hitomi, K., Yamagiwa, Y., Ikura, K., Yamanishi, K. & Maki, M. (2000). Characterization of human recombinant transglutaminase 1 purified from baculovirus-infected insect cells. Biosci Biotechnol Biochem 64(10): 2128-2137.
Huber, M., Rettler, I., Bernasconi, K., Frenk, E., Lavrijsen, S. P., Ponec, M., Bon, A., Lautenschlager, S., Schorderet, D. F. & Hohl, D. (1995). Mutations of keratinocyte transglutaminase in lamellar ichthyosis. Science 267(5197): 525-528.
Iismaa, S. E., Holman, S., Wouters, M. A., Lorand, L., Graham, R. M. & Husain, A. (2003). Evolutionary specialization of a tryptophan indole group for transition-state stabilization by eukaryotic transglutaminases. Proc Natl Acad Sci U S A 100(22): 12636-12641.
Iismaa, S. E., Mearns, B. M., Lorand, L. & Graham, R. M. (2009). Transglutaminases and disease: lessons from genetically engineered mouse models and inherited disorders. Physiol Rev 89(3): 991-1023
Israeli, S., Goldberg, I., Fuchs-Telem, D., Bergman, R., Indelman, M., Bitterman-Deutsch, O., Harel, A., Mashiach, Y., Sarig, O. & Sprecher, E. (2013). Non-syndromic autosomal recessive congenital ichthyosis in the Israeli population. Clin Exp Dermatol 38(8): 911-916.
Jacyk, W. K. (2005). Bathing-suit ichthyosis. A peculiar phenotype of lamellar ichthyosis in South African blacks. Eur J Dermatol 15(6): 433-436
Jobard, F., Lefevre, C., Karaduman, A., Blanchet-Bardon, C., Emre, S., Weissenbach, J., Ozguc, M., Lathrop, M., Prud'homme, J. F. & Fischer, J. (2002). Lipoxygenase-3 (ALOXE3) and 12(R)-lipoxygenase (ALOX12B) are mutated in non-bullous congenital ichthyosiform erythroderma (NCIE) linked to chromosome 17p13.1. Hum Mol Genet 11(1): 107-113.
Kim, S. Y., Chung, S. I. & Steinert, P. M. (1995). Highly active soluble processed forms of the transglutaminase 1 enzyme in epidermal keratinocytes. J Biol Chem 270(30): 18026-18035.
Kim, S. Y., Kim, I. G., Chung, S. I. & Steinert, P. M. (1994). The structure of the transglutaminase 1 enzyme. Deletion cloning reveals domains that regulate its specific activity and substrate specificity. J Biol Chem 269(45): 27979-27986.
Kurosawa, M., Takagi, A., Tamakoshi, A., Kawamura, T., Inaba, Y., Yokoyama, K., Kitajima, Y., Aoyama, Y., Iwatsuki, K. & Ikeda, S. (2013). Epidemiology and clinical characteristics of bullous congenital ichthyosiform erythroderma (keratinolytic ichthyosis) in Japan: results from a nationwide survey. J Am Acad Dermatol 68(2): 278-283.
Laiho, E., Ignatius, J., Mikkola, H., Yee, V. C., Teller, D. C., Niemi, K. M., Saarialho-Kere, U., Kere, J. & Palotie, A. (1997). Transglutaminase 1 mutations in autosomal recessive congenital ichthyosis: private and recurrent mutations in an isolated population. Am J Hum Genet 61(3): 529-538.
Langlois, S., Armstrong, L., Gall, K., Hulait, G., Livingston, J., Nelson, T., Power, P., Pugash, D., Siciliano, D., Steinraths, M. & Mattman, A. (2009). Steroid sulfatase deficiency and contiguous gene deletion syndrome amongst pregnant patients with low serum unconjugated estriols. Prenat Diagn 29(10): 966-974.
Lee, K. N., Arnold, S. A., Birckbichler, P. J., Patterson, M. K., Jr., Fraij, B. M., Takeuchi, Y. & Carter, H. A. (1993). Site-directed mutagenesis of human tissue transglutaminase: Cys-277 is essential for transglutaminase activity but not for GTPase activity. Biochim Biophys Acta 1202(1): 1-6.
Lefevre, C., Audebert, S., Jobard, F., Bouadjar, B., Lakhdar, H., Boughdene-Stambouli, O., Blanchet-Bardon, C., Heilig, R., Foglio, M., Weissenbach, J., Lathrop, M., Prud'homme, J. F. & Fischer, J. (2003). Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2. Hum Mol Genet 12(18): 2369-2378.
Lefevre, C., Bouadjar, B., Ferrand, V., Tadini, G., Megarbane, A., Lathrop, M., Prud'homme, J. F. & Fischer, J. (2006). Mutations in a new cytochrome P450 gene in lamellar ichthyosis type 3. Hum Mol Genet 15(5): 767-776.
Lefevre, C., Bouadjar, B., Karaduman, A., Jobard, F., Saker, S., Ozguc, M., Lathrop, M., Prud'homme, J. F. & Fischer, J. (2004). Mutations in ichthyin a new gene on chromosome 5q33 in a new form of autosomal recessive congenital ichthyosis. Hum Mol Genet 13(20): 2473-2482.
Lorand, L. & Graham, R. M. (2003). Transglutaminases: crosslinking enzymes with pleiotropic functions. Nat Rev Mol Cell Biol 4(2): 140-156.
Mazereeuw-Hautier, J., Aufenvenne, K., Deraison, C., Ahvazi, B., Oji, V., Traupe, H. & Hovnanian, A. (2009). Acral self-healing collodion baby: report of a new clinical phenotype caused by a novel TGM1 mutation. Br J Dermatol 161(2): 456-463.
Mizrachi-Koren, M., Geiger, D., Indelman, M., Bitterman-Deutsch, O., Bergman, R. & Sprecher, E. (2005). Identification of a novel locus associated with congenital recessive ichthyosis on 12p11.2-q13. J Invest Dermatol 125(3): 456-462.
Mondal, A. K., Kumar, P. & Mondal, A. (2011). Bullous congenital ichthyosiform erythroderma. Indian Pediatr 48(12): 968.
Mycek, M. J., Clarke, D. D., Neidle, A. & Waelsch, H. (1959). Amine incorporation into insulin as catalyzed by transglutaminase. Arch Biochem Biophys 84: 528-540.
Nemes, Z., Marekov, L. N. & Steinert, P. M. (1999). Involucrin cross-linking by transglutaminase 1. Binding to membranes directs residue specificity. J Biol Chem 274(16): 11013-11021
Numata, S., Teye, K., Krol, R. P., Karashima, T., Fukuda, S., Matsuda, M., Ishii, N., Furumura, M., Ohata, C., Saminathan, S. D., Ariffin, R., Pramono, Z. A., Leong, K. F., Hamada, T. & Hashimoto, T. (2015). Mutation study for 9 genes in 23 unrelated patients with autosomal recessive congenital ichthyosis in Japan and Malaysia. J Dermatol Sci 78(1): 82-85.
Oji, V., Hautier, J. M., Ahvazi, B., Hausser, I., Aufenvenne, K., Walker, T., Seller, N., Steijlen, P. M., Kuster, W., Hovnanian, A., Hennies, H. C. & Traupe, H. (2006). Bathing suit ichthyosis is caused by transglutaminase-1 deficiency: evidence for a temperature-sensitive phenotype. Hum Mol Genet 15(21): 3083-3097.
Oji, V., Tadini, G., Akiyama, M., Blanchet Bardon, C., Bodemer, C., Bourrat, E., Coudiere, P., DiGiovanna, J. J., Elias, P., Fischer, J., Fleckman, P., Gina, M., Harper, J., Hashimoto, T., Hausser, I., Hennies, H. C., Hohl, D., Hovnanian, A., Ishida-Yamamoto, A., Jacyk, W. K., Leachman, S., Leigh, I., Mazereeuw-Hautier, J., Milstone, L., Morice-Picard, F., Paller, A. S., Richard, G., Schmuth, M., Shimizu, H., Sprecher, E., Van Steensel, M., Taieb, A., Toro, J. R., Vabres, P., Vahlquist, A., Williams, M. & Traupe, H. (2010). Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Soreze 2009. J Am Acad Dermatol 63(4): 607-641.
Pigg, M., Gedde-Dahl, T., Jr., Cox, D., Hausser, I., Anton-Lamprecht, I. & Dahl, N. (1998). Strong founder effect for a transglutaminase 1 gene mutation in lamellar ichthyosis and congenital ichthyosiform erythroderma from Norway. Eur J Hum Genet 6(6): 589-596.
Raghunath, M., Hennies, H. C., Ahvazi, B., Vogel, M., Reis, A., Steinert, P. M. & Traupe, H. (2003). Self-healing collodion baby: a dynamic phenotype explained by a particular transglutaminase-1 mutation. J Invest Dermatol 120(2): 224-228.
Rajpopat, S., Moss, C., Mellerio, J., Vahlquist, A., Ganemo, A., Hellstrom-Pigg, M., Ilchyshyn, A., Burrows, N., Lestringant, G., Taylor, A., Kennedy, C., Paige, D., Harper, J., Glover, M., Fleckman, P., Everman, D., Fouani, M., Kayserili, H., Purvis, D., Hobson, E., Chu, C., Mein, C., Kelsell, D. & O'Toole, E. (2011). Harlequin ichthyosis: a review of clinical and molecular findings in 45 cases. Arch Dermatol 147(6): 681-686.
Reese, M. G., Eeckman, F. H., Kulp, D. & Haussler, D. (1997). Improved splice site detection in Genie. J Comput Biol 4(3): 311-323.
Rice, R. H., Rong, X. H. & Chakravarty, R. (1990). Proteolytic release of keratinocyte transglutaminase. Biochem J 265(2): 351-357.
Richard, G. & Bale, S. J. (1993-2014).Autosomal Recessive Congenital Ichthyosis. In GeneReviews(R)(Eds R. A. Pagon, M. P. Adam, H. H. Ardinger, T. D. Bird, C. R. Dolan, C. T. Fong, R. J. H. Smith and K. Stephens). Seattle (WA).
Rodriguez-Pazos, L., Ginarte, M., Fachal, L., Toribio, J., Carracedo, A. & Vega, A. (2011). Analysis of TGM1, ALOX12B, ALOXE3, NIPAL4 and CYP4F22 in autosomal recessive congenital ichthyosis from Galicia (NW Spain): evidence of founder effects. Br J Dermatol 165(4): 906-911
Russell, L. J., DiGiovanna, J. J., Rogers, G. R., Steinert, P. M., Hashem, N., Compton, J. G. & Bale, S. J. (1995). Mutations in the gene for transglutaminase 1 in autosomal recessive lamellar ichthyosis. Nat Genet 9(3): 279-283.
Simon, M. & Green, H. (1985). Enzymatic cross-linking of involucrin and other proteins by keratinocyte particulates in vitro. Cell 40(3): 677-683.
Sorek, R., Shemesh, R., Cohen, Y., Basechess, O., Ast, G. & Shamir, R. (2004). A non-EST-based method for exon-skipping prediction. Genome Res 14(8): 1617-1623.
Steinert, P. M., Candi, E., Kartasova, T. & Marekov, L. (1998). Small proline-rich proteins are cross-bridging proteins in the cornified cell envelopes of stratified squamous epithelia. J Struct Biol 122(1-2): 76-85.
Steinert, P. M., Chung, S. I. & Kim, S. Y. (1996). Inactive zymogen and highly active proteolytically processed membrane-bound forms of the transglutaminase 1 enzyme in human epidermal keratinocytes. Biochem Biophys Res Commun 221(1): 101-106.
Thacher, S. M. (1989). Purification of keratinocyte transglutaminase and its expression during squamous differentiation. J Invest Dermatol 92(4): 578-584.
Thacher, S. M. & Rice, R. H. (1985). Keratinocyte-specific transglutaminase of cultured human epidermal cells: relation to cross-linked envelope formation and terminal differentiation. Cell 40(3): 685-695.
Tu, C. L. & Bikle, D. D. (2013). Role of the calcium-sensing receptor in calcium regulation of epidermal differentiation and function. Best Pract Res Clin Endocrinol Metab 27(3): 415-427.
Vahlquist, A., Bygum, A., Ganemo, A., Virtanen, M., Hellstrom-Pigg, M., Strauss, G., Brandrup, F. & Fischer, J. (2010). Genotypic and clinical spectrum of self-improving collodion ichthyosis: ALOX12B, ALOXE3, and TGM1 mutations in Scandinavian patients. J Invest Dermatol 130(2): 438-443.
Williams, M. L. & Elias, P. M. (1985). Heterogeneity in autosomal recessive ichthyosis. Clinical and biochemical differentiation of lamellar ichthyosis and nonbullous congenital ichthyosiform erythroderma. Arch Dermatol 121(4): 477-488.
Yeo, G. & Burge, C. B. (2004). Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals. J Comput Biol 11(2-3): 377-394.
Yu, Z., Schneider, C., Boeglin, W. E., Marnett, L. J. & Brash, A. R. (2003). The lipoxygenase gene ALOXE3 implicated in skin differentiation encodes a hydroperoxide isomerase. Proc Natl Acad Sci U S A 100(16): 9162-9167.
Yuspa, S. H. & Harris, C. C. (1974). Altered differentiation of mouse epidermal cells treated with retinyl acetate in vitro. Exp Cell Res 86(1): 95-105
Zheng, Y. & Brash, A. R. (2010). Dioxygenase activity of epidermal lipoxygenase-3 unveiled: typical and atypical features of its catalytic activity with natural and synthetic polyunsaturated fatty acids. J Biol Chem 285(51): 39866-39875.
Zheng, Y., Yin, H., Boeglin, W. E., Elias, P. M., Crumrine, D., Beier, D. R. & Brash, A. R. (2011). Lipoxygenases mediate the effect of essential fatty acid in skin barrier formation: a proposed role in releasing omega-hydroxyceramide for construction of the corneocyte lipid envelope. J Biol Chem 286(27): 24046-24056.
Ahvazi, B., Boeshans, K. M., Idler, W., Baxa, U. & Steinert, P. M. (2003). Roles of calcium ions in the activation and activity of the transglutaminase 3 enzyme. J Biol Chem 278(26): 23834-23841.
Ahvazi, B. & Steinert, P. M. (2003). A model for the reaction mechanism of the transglutaminase 3 enzyme. Exp Mol Med 35(4): 228-242
Repositorio EdocUR-U. Rosario
Universidad del Rosario
instacron:Universidad del Rosario

Se describe la variante homocigota c.320-2A>G de TGM1 en dos hermanas con ictiosis congénita autosómica recesiva. El clonaje de los transcritos generados por esta variante permitió identificar tres mecanismos moleculares de splicing alternativos.

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