Back to Search Start Over

Identificación de factores de transcripción de unión directa a la región promotora de STOX1

Authors :
Laissue, Paul
Bello Uyaban, Sandra
Laissue, Paul
Bello Uyaban, Sandra
Source :
instname:Universidad del Rosario; reponame:Repositorio Institucional EdocUR; Ali, S. M., & Khalil, R. A. (2015). Genetic, immune and vasoactive factors in the vascular dysfunction associated with hypertension in pregnancy. Expert Opin Ther Targets, 19(11), 1495-1515. doi:10.1517/14728222.2015.1067684; Amaral, L. M., Cunningham, M. W., Cornelius, D. C., & LaMarca, B. (2015). Preeclampsia: long-term consequences for vascular health. Vascular Health and Risk Management, 11, 403-415. doi:10.2147/VHRM.S64798; Ballermann, B. J. (2005). Glomerular endothelial cell differentiation. Kidney Int, 67(5), 1668-1671. doi:10.1111/j.1523-1755.2005.00260.x; Berends, A. L., Bertoli-Avella, A. M., de Groot, C. J., van Duijn, C. M., Oostra, B. A., & Steegers, E. A. (2007). STOX1 gene in pre-eclampsia and intrauterine growth restriction. Bjog, 114(9), 1163-1167. doi:10.1111/j.1471-0528.2007.01414.x; Biagi, G., De Rosa, V., Pelusi, G., Scagliarini, G., Sani, G., & Coccheri, S. (1990). Increased placental production of leukotriene B4 in gestational hypertension. Thromb Res, 60(5), 377-384.; Buas, M. F., Kabak, S., & Kadesch, T. (2010). The Notch effector Hey1 associates with myogenic target genes to repress myogenesis. J Biol Chem, 285(2), 1249-1258. doi:10.1074/jbc.M109.046441; Caburet, S., Zavadakova, P., Ben-Neriah, Z., Bouhali, K., Dipietromaria, A., Charon, C., . . . Fellous, M. (2012). Genome-Wide Linkage in a Highly Consanguineous Pedigree Reveals Two Novel Loci on Chromosome 7 for Non-Syndromic Familial Premature Ovarian Failure. PLoS ONE, 7(3), e33412. doi:10.1371/journal.pone.0033412; Carlosama, C., Elzaiat, M., Patino, L. C., Mateus, H. E., Veitia, R. A., & Laissue, P. (2017). A homozygous donor splice-site mutation in the meiotic gene MSH4 causes primary ovarian insufficiency. Hum Mol Genet, 26(16), 3161-3166. doi:10.1093/hmg/ddx199; Cartharius, K., Frech, K., Grote, K., Klocke, B., Haltmeier, M., Klingenhoff, A., . . . Werner, T. (2005). MatInspector and beyond: promoter analysis based on transcription factor binding sites. Bioinformatics, 21(13), 2933-2942. doi:10.1093/bioinformatics/bti473; Cartharius, K., Frech, K., Karas, H., Wingender, E., & Werner, T. (1995). Quandt K, Frech K, Karas H, Wingender E, Werner T.. MatInd and MatInspector: new fast and versatile tools for detection of consensus matches in nucleotide sequence data. Nucl Acids Res 23: 4878-4884 (Vol. 23); Carty, D. M., Delles, C., & Dominiczak, A. F. (2008). Novel biomarkers for predicting preeclampsia. Trends Cardiovasc Med, 18(5), 186-194. doi:10.1016/j.tcm.2008.07.002; Castro, T., Mateus, H. E., Fonseca, D. J., Forero, D., Restrepo, C. M., Talero, C., . . . Laissue, P. (2013). Sequence analysis of the ADRA2A coding region in children affected by attention deficit hyperactivity disorder. Neurol Sci, 34(12), 2219-2222. doi:10.1007/s10072-013-1569-4; Cerdeira, A. S., & Karumanchi, S. A. (2012). Angiogenic factors in preeclampsia and related disorders. Cold Spring Harb Perspect Med, 2(11). doi:10.1101/cshperspect.a006585; Chen, C. W., Jaffe, I. Z., & Karumanchi, S. A. (2014). Pre-eclampsia and cardiovascular disease. Cardiovascular Research, 101(4), 579-586. doi:10.1093/cvr/cvu018; Craici, I. M., Wagner, S. J., Weissgerber, T. L., Grande, J. P., & Garovic, V. D. (2014). Advances in the pathophysiology of pre-eclampsia and related podocyte injury. Kidney international, 86(2), 275-285. doi:10.1038/ki.2014.17; Dekker, G. A., & Sibai, B. M. (1998). Etiology and pathogenesis of preeclampsia: current concepts. Am J Obstet Gynecol, 179(5), 1359-1375.; Deplancke, B., Vermeirssen, V., Arda, H. E., Martinez, N. J., & Walhout, A. J. (2006). Gateway-compatible yeast one-hybrid screens. CSH Protoc, 2006(5). doi:10.1101/pdb.prot4590; Diggle, C. P., Parry, D. A., Logan, C. V., Laissue, P., Rivera, C., Restrepo, C. M., . . . Bonthron, D. T. (2012). Prostaglandin transporter mutations cause pachydermoperiostosis with myelofibrosis. Hum Mutat, 33(8), 1175-1181. doi:10.1002/humu.22111; Doridot, L., Chatre, L., Ducat, A., Vilotte, J. L., Lombes, A., Mehats, C., . . . Vaiman, D. (2014). Nitroso-redox balance and mitochondrial homeostasis are regulated by STOX1, a pre-eclampsia-associated gene. Antioxid Redox Signal, 21(6), 819-834. doi:10.1089/ars.2013.5661; Doridot, L., Passet, B., Mehats, C., Rigourd, V., Barbaux, S., Ducat, A., . . . Vaiman, D. (2013). Preeclampsia-like symptoms induced in mice by fetoplacental expression of STOX1 are reversed by aspirin treatment. Hypertension, 61(3), 662-668. doi:10.1161/hypertensionaha.111.20299; Ducat, A., Doridot, L., Calicchio, R., Méhats, C., Vilotte, J.-L., Castille, J., . . . Vaiman, D. (2016). Endothelial cell dysfunction and cardiac hypertrophy in the STOX1 model of preeclampsia. Scientific Reports, 6, 19196. doi:10.1038/srep19196; Eiland, E., Nzerue, C., & Faulkner, M. (2012). Preeclampsia 2012. Journal of Pregnancy, 2012, 586578. doi:10.1155/2012/586578; Fonseca, D. J., Garzon, E., Lakhal, B., Braham, R., Ojeda, D., Elghezal, H., . . . Laissue, P. (2012). Screening for mutations of the FOXO4 gene in premature ovarian failure patients. Reprod Biomed Online, 24(3), 339-341. doi:10.1016/j.rbmo.2011.11.017; Fonseca, D. J., Ortega-Recalde, O., Esteban-Perez, C., Moreno-Ortiz, H., Patino, L. C., Bermudez, O. M., . . . Laissue, P. (2014). BMP15 c.-9C>G promoter sequence variant may contribute to the cause of non-syndromic premature ovarian failure. Reprod Biomed Online, 29(5), 627-633. doi:10.1016/j.rbmo.2014.07.018; Fonseca, D. J., Patino, L. C., Suarez, Y. C., de Jesus Rodriguez, A., Mateus, H. E., Jimenez, K. M., . . . Laissue, P. (2015). Next generation sequencing in women affected by nonsyndromic premature ovarian failure displays new potential causative genes and mutations. Fertil Steril, 104(1), 154-162.e152. doi:10.1016/j.fertnstert.2015.04.016; Fonseca, D. J., Prada, C. F., Siza, L. M., Angel, D., Gomez, Y. M., Restrepo, C. M., . . . Laissue, P. (2012). A de novo 14q12q13.3 interstitial deletion in a patient affected by a severe neurodevelopmental disorder of unknown origin. Am J Med Genet A, 158a(3), 689-693. doi:10.1002/ajmg.a.35215; Fonseca, D. J., Rojas, R. F., Vergara, J. I., Rios, X., Uribe, C., Chavez, L., . . . Laissue, P. (2013). A severe familial phenotype of Ichthyosis Curth-Macklin caused by a novel mutation in the KRT1 gene. Br J Dermatol, 168(2), 456-458. doi:10.1111/j.1365-2133.2012.11181.x; Forero, D. A., Wonkam, A., Wang, W., Laissue, P., Lopez-Correa, C., Fernandez-Lopez, J. C., . . . Perry, G. (2016). Current needs for human and medical genomics research infrastructure in low and middle income countries. J Med Genet, 53(7), 438-440. doi:10.1136/jmedgenet-2015-103631; Founds, S. A., Conley, Y. P., Lyons-Weiler, J. F., Jeyabalan, A., Hogge, W. A., & Conrad, K. P. (2009). Altered global gene expression in first trimester placentas of women destined to develop preeclampsia. Placenta, 30(1), 15-24. doi:10.1016/j.placenta.2008.09.015; Fragkiadaki, P., Soulitzis, N., Sifakis, S., Koutroulakis, D., Gourvas, V., Vrachnis, N., & Spandidos, D. A. (2015). Downregulation of notch signaling pathway in late preterm and term placentas from pregnancies complicated by preeclampsia. PLoS One, 10(5), e0126163. doi:10.1371/journal.pone.0126163; George, E. M. (2014). New approaches for managing preeclampsia: clues from clinical and basic research. Clin Ther, 36(12), 1873-1881. doi:10.1016/j.clinthera.2014.09.023; George, E. M., & Bidwell, G. L. (2013). STOX1: A new player in preeclampsia? Hypertension, 61(3), 561-563. doi:10.1161/HYPERTENSIONAHA.111.00721; Goel, A., & Rana, S. (2013). Angiogenic factors in preeclampsia: potential for diagnosis and treatment. Curr Opin Nephrol Hypertens, 22(6), 643-650. doi:10.1097/MNH.0b013e328365ad98; Graves, J. A. (1998). Genomic imprinting, development and disease--is pre-eclampsia caused by a maternally imprinted gene? Reprod Fertil Dev, 10(1), 23-29; Grill, S., Rusterholz, C., Zanetti-Dallenbach, R., Tercanli, S., Holzgreve, W., Hahn, S., & Lapaire, O. (2009). Potential markers of preeclampsia--a review. Reprod Biol Endocrinol, 7, 70. doi:10.1186/1477-7827-7-70; Gubelmann, C., Waszak, S. M., Isakova, A., Holcombe, W., Hens, K., Iagovitina, A., . . . Deplancke, B. (2013). A yeast one-hybrid and microfluidics-based pipeline to map mammalian gene regulatory networks. Molecular Systems Biology, 9, 682-682. doi:10.1038/msb.2013.38; Guenther, C., & Garriga, G. (1996). Asymmetric distribution of the C. elegans HAM-1 protein in neuroblasts enables daughter cells to adopt distinct fates. Development, 122(11), 3509-3518.; Haberle, V., & Lenhard, B. (2016). Promoter architectures and developmental gene regulation. Seminars in Cell & Developmental Biology, 57, 11-23. doi:; Hahn, S., Lapaire, O., & Than, N. G. (2015). Biomarker development for presymptomatic molecular diagnosis of preeclampsia: feasible, useful or even unnecessary? Expert Rev Mol Diagn, 15(5), 617-629. doi:10.1586/14737159.2015.1025757; Haram, K., Mortensen, J. H., & Nagy, B. (2014). Genetic Aspects of Preeclampsia and the HELLP Syndrome. Journal of Pregnancy, 2014, 910751. doi:10.1155/2014/910751; Hawfield, A., & Freedman, B. I. (2009). Pre-eclampsia: the pivotal role of the placenta in its pathophysiology and markers for early detection. Ther Adv Cardiovasc Dis, 3(1), 65-73. doi:10.1177/1753944708097114; Hellman, L. M., & Fried, M. G. (2007). Electrophoretic mobility shift assay (EMSA) for detecting protein-nucleic acid interactions. Nat Protoc, 2(8), 1849-1861. doi:10.1038/nprot.2007.249; Jebbink, J., Wolters, A., Fernando, F., Afink, G., van der Post, J., & Ris-Stalpers, C. (2012). Molecular genetics of preeclampsia and HELLP syndrome — A review. Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 1822(12), 1960-1969. doi:; Jeyabalan, A. (2013). Epidemiology of preeclampsia: impact of obesity. Nutr Rev, 71 Suppl 1, S18-25. doi:10.1111/nure.12055; Kanasaki, K., & Kalluri, R. (2009). The Biology of Preeclampsia. Kidney international, 76(8), 831-837. doi:10.1038/ki.2009.284; Kivinen, K., Peterson, H., Hiltunen, L., Laivuori, H., Heino, S., Tiala, I., . . . Kere, J. (2007). Evaluation of STOX1 as a preeclampsia candidate gene in a population-wide sample. Eur J Hum Genet, 15(4), 494-497. doi:10.1038/sj.ejhg.5201788; Kleinrouweler, C. E., van Uitert, M., Moerland, P. D., Ris-Stalpers, C., van der Post, J. A., & Afink, G. B. (2013). Differentially expressed genes in the pre-eclamptic placenta: a systematic review and meta-analysis. PLoS One, 8(7), e68991. doi:10.1371/journal.pone.0068991; Kubota, K., Kent, L. N., Rumi, M. A. K., Roby, K. F., & Soares, M. J. (2015). Dynamic Regulation of AP-1 Transcriptional Complexes Directs Trophoblast Differentiation. In Mol Cell Biol (Vol. 35, pp. 3163-3177). 1752 N St., N.W., Washington, DC.; L'Hote, D., Laissue, P., Serres, C., Montagutelli, X., Veitia, R. A., & Vaiman, D. (2010). Interspecific resources: a major tool for quantitative trait locus cloning and speciation research. Bioessays, 32(2), 132-142. doi:10.1002/bies.200900027; Laissue, P. (2015). Aetiological coding sequence variants in non-syndromic premature ovarian failure: From genetic linkage analysis to next generation sequencing. Mol Cell Endocrinol, 411, 243-257. doi:10.1016/j.mce.2015.05.005; Laissue, P. (2018). The molecular complexity of primary ovarian insufficiency aetiology and the use of massively parallel sequencing. Mol Cell Endocrinol, 460, 170-180. doi:10.1016/j.mce.2017.07.021; Laissue, P., Burgio, G., l'Hote, D., Renault, G., Marchiol-Fournigault, C., Fradelizi, D., . . . Vaiman, D. (2009). Identification of Quantitative Trait Loci responsible for embryonic lethality in mice assessed by ultrasonography. Int J Dev Biol, 53(4), 623-629. doi:10.1387/ijdb.082613pl; Laissue, P., L'Hote, D., Serres, C., & Vaiman, D. (2009). Mouse models for identifying genes modulating fertility parameters. Animal, 3(1), 55-71. doi:10.1017/s1751731108003315; Laissue, P., Lakhal, B., Benayoun, B. A., Dipietromaria, A., Braham, R., Elghezal, H., . . . Veitia, R. A. (2009). Functional evidence implicating FOXL2 in non-syndromic premature ovarian failure and in the regulation of the transcription factor OSR2. J Med Genet, 46(7), 455-457. doi:10.1136/jmg.2008.065086; Laissue, P., Lakhal, B., Vatin, M., Batista, F., Burgio, G., Mercier, E., . . . Vaiman, D. (2016). Association of FOXD1 variants with adverse pregnancy outcomes in mice and humans. Open Biol, 6(10). doi:10.1098/rsob.160109; Laissue, P., Restrepo, C. M., & Ortiz, A. M. (2017). Improving the evaluation of milestones for students completing a clinical genetics elective. Genet Med, 19(12). doi:10.1038/gim.2017.62; Lakhal, B., Laissue, P., Braham, R., Elghezal, H., Saad, A., Fellous, M., & Veitia, R. A. (2010). BMP15 and premature ovarian failure: causal mutations, variants, polymorphisms? In Clin Endocrinol (Oxf) (Vol. 72, pp. 425-426). England.; Lakhal, B., Laissue, P., Elghezal, H., & Fellous, M. (2008). [Genetic analysis of premature ovarian failure: role of forkhead and TGF-beta genes]. Gynecol Obstet Fertil, 36(9), 862-871. doi:10.1016/j.gyobfe.2008.07.002; Lavery, D. N., Villaronga, M. A., Walker, M. M., Patel, A., Belandia, B., & Bevan, C. L. (2011). Repression of androgen receptor activity by HEYL, a third member of the Hairy/Enhancer-of-split-related family of Notch effectors. J Biol Chem, 286(20), 17796-17808. doi:10.1074/jbc.M110.198655; Lonergan, M., Aponso, D., Marvin, K. W., Helliwell, R. J. A., Sato, T. A., Mitchell, M. D., . . . Keelan, J. A. (2003). Tumor Necrosis Factor-Related Apoptosis-Inducing Ligand (TRAIL), TRAIL Receptors, and the Soluble Receptor Osteoprotegerin in Human Gestational Membranes and Amniotic Fluid during Pregnancy and Labor at Term and Preterm. The Journal of Clinical Endocrinology & Metabolism, 88(8), 3835-3844. doi:10.1210/jc.2002-021905; Lynch, A. M., & Salmon, J. E. (2010). Dysregulated complement activation as a common pathway of injury in preeclampsia and other pregnancy complications. Placenta, 31(7), 561-567. doi:10.1016/j.placenta.2010.03.010; Maharaj, A. S., Saint-Geniez, M., Maldonado, A. E., & D'Amore, P. A. (2006). Vascular endothelial growth factor localization in the adult. Am J Pathol, 168(2), 639-648. doi:10.2353/ajpath.2006.050834; Mahony, S., & Pugh, B. F. (2015). Protein-DNA binding in high-resolution. Critical reviews in biochemistry and molecular biology, 50(4), 269-283. doi:10.3109/10409238.2015.1051505; Maier, M. M., & Gessler, M. (2000). Comparative analysis of the human and mouse Hey1 promoter: Hey genes are new Notch target genes. Biochem Biophys Res Commun, 275(2), 652-660. doi:10.1006/bbrc.2000.3354; Mateus, H. E., Perez, A. M., Mesa, M. L., Escobar, G., Galvez, J. M., Montano, J. I., . . . Laissue, P. (2017). A first description of the Colombian national registry for rare diseases. BMC Res Notes, 10(1), 514. doi:10.1186/s13104-017-2840-1; Maynard, S. E., Min, J. Y., Merchan, J., Lim, K. H., Li, J., Mondal, S., . . . Karumanchi, S. A. (2003). Excess placental soluble fms-like tyrosine kinase 1 (sFlt1) may contribute to endothelial dysfunction, hypertension, and proteinuria in preeclampsia. J Clin Invest, 111(5), 649-658. doi:10.1172/jci17189; Melchiorre, K., Sharma, R., & Thilaganathan, B. (2014). Cardiovascular implications in preeclampsia: an overview. Circulation, 130(8), 703-714. doi:10.1161/circulationaha.113.003664; Ming, Q., Roske, Y., Schuetz, A., Walentin, K., Ibraimi, I., Schmidt-Ott, K. M., & Heinemann, U. (2018). Structural basis of gene regulation by the Grainyhead/CP2 transcription factor family. Nucleic Acids Res, 46(4), 2082-2095. doi:10.1093/nar/gkx1299; Mitropoulos, K., Al Jaibeji, H., Forero, D. A., Laissue, P., Wonkam, A., Lopez-Correa, C., . . . Patrinos, G. P. (2015). Success stories in genomic medicine from resource-limited countries. Hum Genomics, 9, 11. doi:10.1186/s40246-015-0033-3; Mutter, W. P., & Karumanchi, S. A. (2008). Molecular mechanisms of preeclampsia. Microvasc Res, 75(1), 1-8. doi:10.1016/j.mvr.2007.04.009; Myatt, L., & Webster, R. P. (2009). Vascular biology of preeclampsia. J Thromb Haemost, 7(3), 375-384. doi:10.1111/j.1538-7836.2008.03259.x; Naljayan, M. V., & Karumanchi, S. A. (2013). NEW DEVELOPMENTS IN THE PATHOGENESIS OF PREECLAMPSIA. Advances in chronic kidney disease, 20(3), 265-270. doi:10.1053/j.ackd.2013.02.003; Nicolaides, K. H., Bindra, R., Turan, O. M., Chefetz, I., Sammar, M., Meiri, H., . . . Cuckle, H. S. (2006). A novel approach to first-trimester screening for early pre-eclampsia combining serum PP-13 and Doppler ultrasound. Ultrasound Obstet Gynecol, 27(1), 13-17. doi:10.1002/uog.2686; Nino, M. Y., Mateus, H. E., Fonseca, D. J., Kroos, M. A., Ospina, S. Y., Mejia, J. F., . . . Laissue, P. (2013). Identification and Functional Characterization of GAA Mutations in Colombian Patients Affected by Pompe Disease. JIMD Rep, 7, 39-48. doi:10.1007/8904_2012_138; Ojeda, D., Lakhal, B., Fonseca, D. J., Braham, R., Landolsi, H., Mateus, H. E., . . . Laissue, P. (2011). Sequence analysis of the CDKN1B gene in patients with premature ovarian failure reveals a novel mutation potentially related to the phenotype. Fertil Steril, 95(8), 2658-2660.e2651. doi:10.1016/j.fertnstert.2011.04.045; Ortega-Recalde, O., Beltran, O. I., Galvez, J. M., Palma-Montero, A., Restrepo, C. M., Mateus, H. E., & Laissue, P. (2015). Biallelic HERC1 mutations in a syndromic form of overgrowth and intellectual disability. Clin Genet, 88(4), e1-3. doi:10.1111/cge.12634; Ortega-Recalde, O., Fonseca, D. J., Patino, L. C., Atuesta, J. J., Rivera-Nieto, C., Restrepo, C. M., . . . Laissue, P. (2013). A novel familial case of diffuse leukodystrophy related to NDUFV1 compound heterozygous mutations. Mitochondrion, 13(6), 749-754. doi:10.1016/j.mito.2013.03.010; Ortega-Recalde, O., Moreno, M. B., Vergara, J. I., Fonseca, D. J., Rojas, R. F., Mosquera, H., . . . Laissue, P. (2015). A novel TGM1 mutation, leading to multiple splicing rearrangements, is associated with autosomal recessive congenital ichthyosis. Clin Exp Dermatol, 40(7), 757-760. doi:10.1111/ced.12627; Ortega-Recalde, O., Silgado, D., Fetiva, C., Fonseca, D. J., & Laissue, P. (2016). Transcriptomic analysis of skin in a case of ichthyosis Curth-Macklin caused by a KRT1 mutation. Br J Dermatol, 175(6), 1372-1375. doi:10.1111/bjd.149; Ortega-Recalde, O., Vergara, J. I., Fonseca, D. J., Rios, X., Mosquera, H., Bermudez, O. M., . . . Laissue, P. (2014). Whole-exome sequencing enables rapid determination of xeroderma pigmentosum molecular etiology. PLoS One, 8(6), e64692. doi:10.1371/journal.pone.0064692; Ouwerkerk, P. B., & Meijer, A. H. (2001). Yeast one-hybrid screening for DNA-protein interactions. Curr Protoc Mol Biol, Chapter 12, Unit 12.12. doi:10.1002/0471142727.mb1212s5; Palei, A. C., Spradley, F. T., Warrington, J. P., George, E. M., & Granger, J. P. (2013). Pathophysiology of Hypertension in Preeclampsia: A Lesson in Integrative Physiology. Acta physiologica (Oxford, England), 208(3), 224-233. doi:10.1111/apha.12106; Pares-Matos, E. I. (2013). Electrophoretic mobility-shift and super-shift assays for studies and characterization of protein-DNA complexes. Methods Mol Biol, 977, 159-167. doi:10.1007/978-1-62703-284-1_12; Park, H. J., Shim, S. S., & Cha, D. H. (2015). Combined Screening for Early Detection of Pre-Eclampsia. Int J Mol Sci, 16(8), 17952-17974. doi:10.3390/ijms160817952; Patino, L. C., Battu, R., Ortega-Recalde, O., Nallathambi, J., Anandula, V. R., Renukaradhya, U., & Laissue, P. (2014). Exome sequencing is an efficient tool for variant late-infantile neuronal ceroid lipofuscinosis molecular diagnosis. PLoS One, 9(10), e109576. doi:10.1371/journal.pone.0109576; Patino, L. C., Beau, I., Carlosama, C., Buitrago, J. C., Gonzalez, R., Suarez, C. F., . . . Laissue, P. (2017). New mutations in non-syndromic primary ovarian insufficiency patients identified via whole-exome sequencing. Hum Reprod, 32(7), 1512-1520. doi:10.1093/humrep/dex089; Patino, L. C., Silgado, D., & Laissue, P. (2017). A potential functional association between mutant BMPR2 and primary ovarian insufficiency. Syst Biol Reprod Med, 63(3), 145-149. doi:10.1080/19396368.2017.1291767; Patino, L. C., Walton, K. L., Mueller, T. D., Johnson, K. E., Stocker, W., Richani, D., . . . Harrison, C. A. (2017). BMP15 Mutations Associated With Primary Ovarian Insufficiency Reduce Expression, Activity, or Synergy With GDF9. J Clin Endocrinol Metab, 102(3), 1009-1019. doi:10.1210/jc.2016-3503; Pennington, K. A., Schlitt, J. M., Jackson, D. L., Schulz, L. C., & Schust, D. J. (2012). Preeclampsia: multiple approaches for a multifactorial disease. Dis Model Mech, 5(1), 9-18. doi:10.1242/dmm.008516; Petla, L. T., Chikkala, R., Ratnakar, K. S., Kodati, V., & Sritharan, V. (2013). Biomarkers for the management of pre-eclampsia in pregnant women. Indian J Med Res, 138, 60-67.; Powe, C. E., Levine, R. J., & Karumanchi, S. A. (2011). Preeclampsia, a disease of the maternal endothelium: the role of antiangiogenic factors and implications for later cardiovascular disease. Circulation, 123(24), 2856-2869. doi:10.1161/circulationaha.109.853127; Prada, C. F., & Laissue, P. (2014). A high resolution map of mammalian X chromosome fragile regions assessed by large-scale comparative genomics. Mamm Genome, 25(11-12), 618-635. doi:10.1007/s00335-014-9537-8; Queimado, L., Lopes, C., Du, F., Martins, C., Bowcock, A. M., Soares, J., & Lovett, M. (1999). Pleomorphic adenoma gene 1 is expressed in cultured benign and malignant salivary gland tumor cells. Lab Invest, 79(5), 583-589.; Quintero-Ronderos, P., Mercier, E., Fukuda, M., Gonzalez, R., Suarez, C. F., Patarroyo, M. A., . . . Laissue, P. (2017). Novel genes and mutations in patients affected by recurrent pregnancy loss. PLoS One, 12(10), e0186149. doi:10.1371/journal.pone.0186149; Quintero-Ronderos, P., Mercier, E., Gris, J. C., Esteban-Perez, C., Moreno-Ortiz, H., Fonseca, D. J., . . . Laissue, P. (2017). THBD sequence variants potentially related to recurrent pregnancy loss. Reprod Biol Endocrinol, 15(1), 92. doi:10.1186/s12958-017-0311-0; Ramma, W., & Ahmed, A. (2011). Is inflammation the cause of pre-eclampsia? Biochem Soc Trans, 39(6), 1619-1627. doi:10.1042/bst20110672; Rigourd, V., Chauvet, C., Chelbi, S. T., Rebourcet, R., Mondon, F., Letourneur, F., . . . Vaiman, D. (2008). STOX1 Overexpression in Choriocarcinoma Cells Mimics Transcriptional Alterations Observed in Preeclamptic Placentas. PLoS ONE, 3(12), e3905. doi:10.1371/journal.pone.0003905; Rigourd, V., Chelbi, S., Chauvet, C., Rebourcet, R., Barbaux, S., Bessieres, B., . . . Vaiman, D. (2009). Re-evaluation of the role of STOX1 transcription factor in placental development and preeclampsia. J Reprod Immunol, 82(2), 174-181. doi:10.1016/j.jri.2009.05.001; Roland, C. S., Hu, J., Ren, C. E., Chen, H., Li, J., Varvoutis, M. S., . . . Jiang, S. W. (2016). Morphological changes of placental syncytium and their implications for the pathogenesis of preeclampsia. Cell Mol Life Sci, 73(2), 365-376. doi:10.1007/s00018-015-2069-x; Roy, A. L., & Singer, D. S. (2015). Core promoters in transcription: old problem, new insights. Trends Biochem Sci, 40(3), 165-171. doi:10.1016/j.tibs.2015.01.007; Salonen Ros, H., Lichtenstein, P., Lipworth, L., & Cnattingius, S. (2000). Genetic effects on the liability of developing pre-eclampsia and gestational hypertension. Am J Med Genet, 91(4), 256-260.; Simoncini, S., Njock, M. S., Robert, S., Camoin-Jau, L., Sampol, J., Harle, J. R., . . . Anfosso, F. (2009). TRAIL/Apo2L mediates the release of procoagulant endothelial microparticles induced by thrombin in vitro: a potential mechanism linking inflammation and coagulation. Circ Res, 104(8), 943-951. doi:10.1161/circresaha.108.183285; Staff, A. C., Benton, S. J., von Dadelszen, P., Roberts, J. M., Taylor, R. N., Powers, R. W., . . . Redman, C. W. (2013). Redefining preeclampsia using placenta-derived biomarkers. Hypertension, 61(5), 932-942. doi:10.1161/hypertensionaha.111.00250; SIVIGILA. (2013). Mortalidad Materna. In.; Thulluru, H. K., Park, C., Dufort, D., Kleiverda, G., Oudejans, C., & van Dijk, M. (2013). Maternal Nodal inversely affects NODAL and STOX1 expression in the fetal placenta. Front Genet, 4, 170. doi:10.3389/fgene.2013.00170; Uzan, J., Carbonnel, M., Piconne, O., Asmar, R., & Ayoubi, J. M. (2011). Pre-eclampsia: pathophysiology, diagnosis, and management. Vasc Health Risk Manag, 7, 467-474. doi:10.2147/vhrm.s20181; Vaiman, D., & Miralles, F. (2016). Targeting STOX1 in the therapy of preeclampsia. Expert Opin Ther Targets, 20(12), 1433-1443. doi:10.1080/14728222.2016.1253682; Valenzuela, F. J., Pérez-Sepúlveda, A., Torres, M. J., Correa, P., Repetto, G. M., & Illanes, S. E. (2012). Pathogenesis of Preeclampsia: The Genetic Component. Journal of Pregnancy, 2012, 632732. doi:10.1155/2012/632732; Valero-Rubio, D., Jimenez, K. M., Fonseca, D. J., Payan-Gomez, C., & Laissue, P. (2018). Transcriptomic analysis of FUCA1 knockdown in keratinocytes reveals new insights in the pathogenesis of fucosidosis skin lesions. Exp Dermatol. doi:10.1111/exd.13532; van Abel, D., Michel, O., Veerhuis, R., Jacobs, M., van Dijk, M., & Oudejans, C. B. (2012). Direct downregulation of CNTNAP2 by STOX1A is associated with Alzheimer's disease. J Alzheimers Dis, 31(4), 793-800. doi:10.3233/jad-2012-120472; van Dijk, M., Drewlo, S., & Oudejans, C. B. (2010). Differential methylation of STOX1 in human placenta. Epigenetics, 5(8), 736-742. doi:10.4161/epi.5.8.13084; van Dijk, M., Mulders, J., Poutsma, A., Konst, A. A., Lachmeijer, A. M., Dekker, G. A., . . . Oudejans, C. B. (2005). Maternal segregation of the Dutch preeclampsia locus at 10q22 with a new member of the winged helix gene family. Nat Genet, 37(5), 514-519. doi:10.1038/ng1541; van Dijk, M., & Oudejans, C. B. M. (2011). STOX1: Key Player in Trophoblast Dysfunction Underlying Early Onset Preeclampsia with Growth Retardation. Journal of Pregnancy, 2011, 521826. doi:10.1155/2011/521826; van Dijk, M., van Bezu, J., van Abel, D., Dunk, C., Blankenstein, M. A., Oudejans, C. B., & Lye, S. J. (2010). The STOX1 genotype associated with pre-eclampsia leads to a reduction of trophoblast invasion by alpha-T-catenin upregulation. Hum Mol Genet, 19(13), 2658-2667. doi:10.1093/hmg/ddq152; Vatin, M., Bouvier, S., Bellazi, L., Montagutelli, X., Laissue, P., Ziyyat, A., . . . Gris, J. C. (2014). Polymorphisms of human placental alkaline phosphatase are associated with in vitro fertilization success and recurrent pregnancy loss. Am J Pathol, 184(2), 362-368. doi:10.1016/j.ajpath.2013.10.024; Wang, A., Rana, S., & Karumanchi, S. A. (2009). Preeclampsia: the role of angiogenic factors in its pathogenesis. Physiology (Bethesda), 24, 147-158. doi:10.1152/physiol.00043.2008; Wiley, S. R., Schooley, K., Smolak, P. J., Din, W. S., Huang, C. P., Nicholl, J. K., . . . et al. (1995). Identification and characterization of a new member of the TNF family that induces apoptosis. Immunity, 3(6), 673-682.; Williams, P. J., & Broughton Pipkin, F. (2011). The genetics of pre-eclampsia and other hypertensive disorders of pregnancy. Best Pract Res Clin Obstet Gynaecol, 25(4), 405-417. doi:10.1016/j.bpobgyn.2011.02.007; Williams, P. J., & Broughton Pipkin, F. (2011). The genetics of pre-eclampsia and other hypertensive disorders of pregnancy. Best Practice & Research. Clinical Obstetrics & Gynaecology, 25(4-4), 405-417. doi:10.1016/j.bpobgyn.2011.02.007; Xie, Z., Hu, S., Qian, J., Blackshaw, S., & Zhu, H. (2011). Systematic characterization of protein-DNA interactions. Cell Mol Life Sci, 68(10), 1657-1668. doi:10.1007/s00018-010-0617-y
Publication Year :
2018

Abstract

La Preeclampsia (PE) es una enfermedad exclusiva del embarazo caracterizada por hipertensión arterial y compromiso multisistémico. Afecta entre el 2% y el 8% de las mujeres gestantes en el mundo y es la principal causa de morbilidad y mortalidad materna y neonatal. El principal evento relacionado con la fisiopatología de la PE es la disfunción endotelial, la cual depende del control poligénico de múltiples cascadas moleculares. Diversas proteínas han sido estudiadas con el objetivo de esclarecer la fisiopatología de la enfermedad, entre ellas el factor de transcripción STOX1. Esta proteína regula diferentes procesos biológicos implicados en la fisiopatología de la PE como la angiogénesis, el estrés oxidativo, la inflamación y la apoptosis. Sin embargo, se desconoce qué factores de transcripción se fijan al promotor de STOX1 participando en su regulación. Durante el presente trabajo de tesis se propuso identificar los factores que interactúan potencialmente con la región promotora de STOX1 e identificar, por medio de secuenciación del promotor, variantes que puedan afectar sitios de unión a factores de transcripción en una muestra de pacientes francesas afectadas con PE. Para cumplir este objetivo fueron utilizadas técnicas experimentales in vivo como el ensayo de monohíbrido en levaduras y bioinformáticas in silico. Se identificó al factor de transcripción HEY-L como un potencial regulador de STOX1 y fue encontrada la variante c.-735T>G en la región donde potencialmente interactúa este factor de transcripción. Sin embargo, deben ser realizados estudios funcionales para validar la interacción definitiva y si la mutación genera una modificación en la transactivación del promotor.

Details

Database :
OAIster
Journal :
instname:Universidad del Rosario; reponame:Repositorio Institucional EdocUR; Ali, S. M., & Khalil, R. A. (2015). Genetic, immune and vasoactive factors in the vascular dysfunction associated with hypertension in pregnancy. Expert Opin Ther Targets, 19(11), 1495-1515. doi:10.1517/14728222.2015.1067684; Amaral, L. M., Cunningham, M. W., Cornelius, D. C., & LaMarca, B. (2015). Preeclampsia: long-term consequences for vascular health. Vascular Health and Risk Management, 11, 403-415. doi:10.2147/VHRM.S64798; Ballermann, B. J. (2005). Glomerular endothelial cell differentiation. Kidney Int, 67(5), 1668-1671. doi:10.1111/j.1523-1755.2005.00260.x; Berends, A. L., Bertoli-Avella, A. M., de Groot, C. J., van Duijn, C. M., Oostra, B. A., & Steegers, E. A. (2007). STOX1 gene in pre-eclampsia and intrauterine growth restriction. Bjog, 114(9), 1163-1167. doi:10.1111/j.1471-0528.2007.01414.x; Biagi, G., De Rosa, V., Pelusi, G., Scagliarini, G., Sani, G., & Coccheri, S. (1990). Increased placental production of leukotriene B4 in gestational hypertension. Thromb Res, 60(5), 377-384.; Buas, M. F., Kabak, S., & Kadesch, T. (2010). The Notch effector Hey1 associates with myogenic target genes to repress myogenesis. J Biol Chem, 285(2), 1249-1258. doi:10.1074/jbc.M109.046441; Caburet, S., Zavadakova, P., Ben-Neriah, Z., Bouhali, K., Dipietromaria, A., Charon, C., . . . Fellous, M. (2012). Genome-Wide Linkage in a Highly Consanguineous Pedigree Reveals Two Novel Loci on Chromosome 7 for Non-Syndromic Familial Premature Ovarian Failure. PLoS ONE, 7(3), e33412. doi:10.1371/journal.pone.0033412; Carlosama, C., Elzaiat, M., Patino, L. C., Mateus, H. E., Veitia, R. A., & Laissue, P. (2017). A homozygous donor splice-site mutation in the meiotic gene MSH4 causes primary ovarian insufficiency. Hum Mol Genet, 26(16), 3161-3166. doi:10.1093/hmg/ddx199; Cartharius, K., Frech, K., Grote, K., Klocke, B., Haltmeier, M., Klingenhoff, A., . . . Werner, T. (2005). MatInspector and beyond: promoter analysis based on transcription factor binding sites. Bioinformatics, 21(13), 2933-2942. doi:10.1093/bioinformatics/bti473; Cartharius, K., Frech, K., Karas, H., Wingender, E., & Werner, T. (1995). Quandt K, Frech K, Karas H, Wingender E, Werner T.. MatInd and MatInspector: new fast and versatile tools for detection of consensus matches in nucleotide sequence data. Nucl Acids Res 23: 4878-4884 (Vol. 23); Carty, D. M., Delles, C., & Dominiczak, A. F. (2008). Novel biomarkers for predicting preeclampsia. Trends Cardiovasc Med, 18(5), 186-194. doi:10.1016/j.tcm.2008.07.002; Castro, T., Mateus, H. E., Fonseca, D. J., Forero, D., Restrepo, C. M., Talero, C., . . . Laissue, P. (2013). Sequence analysis of the ADRA2A coding region in children affected by attention deficit hyperactivity disorder. Neurol Sci, 34(12), 2219-2222. doi:10.1007/s10072-013-1569-4; Cerdeira, A. S., & Karumanchi, S. A. (2012). Angiogenic factors in preeclampsia and related disorders. Cold Spring Harb Perspect Med, 2(11). doi:10.1101/cshperspect.a006585; Chen, C. W., Jaffe, I. Z., & Karumanchi, S. A. (2014). Pre-eclampsia and cardiovascular disease. Cardiovascular Research, 101(4), 579-586. doi:10.1093/cvr/cvu018; Craici, I. M., Wagner, S. J., Weissgerber, T. L., Grande, J. P., & Garovic, V. D. (2014). Advances in the pathophysiology of pre-eclampsia and related podocyte injury. Kidney international, 86(2), 275-285. doi:10.1038/ki.2014.17; Dekker, G. A., & Sibai, B. M. (1998). Etiology and pathogenesis of preeclampsia: current concepts. Am J Obstet Gynecol, 179(5), 1359-1375.; Deplancke, B., Vermeirssen, V., Arda, H. E., Martinez, N. J., & Walhout, A. J. (2006). Gateway-compatible yeast one-hybrid screens. CSH Protoc, 2006(5). doi:10.1101/pdb.prot4590; Diggle, C. P., Parry, D. A., Logan, C. V., Laissue, P., Rivera, C., Restrepo, C. M., . . . Bonthron, D. T. (2012). Prostaglandin transporter mutations cause pachydermoperiostosis with myelofibrosis. Hum Mutat, 33(8), 1175-1181. doi:10.1002/humu.22111; Doridot, L., Chatre, L., Ducat, A., Vilotte, J. L., Lombes, A., Mehats, C., . . . Vaiman, D. (2014). Nitroso-redox balance and mitochondrial homeostasis are regulated by STOX1, a pre-eclampsia-associated gene. Antioxid Redox Signal, 21(6), 819-834. doi:10.1089/ars.2013.5661; Doridot, L., Passet, B., Mehats, C., Rigourd, V., Barbaux, S., Ducat, A., . . . Vaiman, D. (2013). Preeclampsia-like symptoms induced in mice by fetoplacental expression of STOX1 are reversed by aspirin treatment. Hypertension, 61(3), 662-668. doi:10.1161/hypertensionaha.111.20299; Ducat, A., Doridot, L., Calicchio, R., Méhats, C., Vilotte, J.-L., Castille, J., . . . Vaiman, D. (2016). Endothelial cell dysfunction and cardiac hypertrophy in the STOX1 model of preeclampsia. Scientific Reports, 6, 19196. doi:10.1038/srep19196; Eiland, E., Nzerue, C., & Faulkner, M. (2012). Preeclampsia 2012. Journal of Pregnancy, 2012, 586578. doi:10.1155/2012/586578; Fonseca, D. J., Garzon, E., Lakhal, B., Braham, R., Ojeda, D., Elghezal, H., . . . Laissue, P. (2012). Screening for mutations of the FOXO4 gene in premature ovarian failure patients. Reprod Biomed Online, 24(3), 339-341. doi:10.1016/j.rbmo.2011.11.017; Fonseca, D. J., Ortega-Recalde, O., Esteban-Perez, C., Moreno-Ortiz, H., Patino, L. C., Bermudez, O. M., . . . Laissue, P. (2014). BMP15 c.-9C>G promoter sequence variant may contribute to the cause of non-syndromic premature ovarian failure. Reprod Biomed Online, 29(5), 627-633. doi:10.1016/j.rbmo.2014.07.018; Fonseca, D. J., Patino, L. C., Suarez, Y. C., de Jesus Rodriguez, A., Mateus, H. E., Jimenez, K. M., . . . Laissue, P. (2015). Next generation sequencing in women affected by nonsyndromic premature ovarian failure displays new potential causative genes and mutations. Fertil Steril, 104(1), 154-162.e152. doi:10.1016/j.fertnstert.2015.04.016; Fonseca, D. J., Prada, C. F., Siza, L. M., Angel, D., Gomez, Y. M., Restrepo, C. M., . . . Laissue, P. (2012). A de novo 14q12q13.3 interstitial deletion in a patient affected by a severe neurodevelopmental disorder of unknown origin. Am J Med Genet A, 158a(3), 689-693. doi:10.1002/ajmg.a.35215; Fonseca, D. J., Rojas, R. F., Vergara, J. I., Rios, X., Uribe, C., Chavez, L., . . . Laissue, P. (2013). A severe familial phenotype of Ichthyosis Curth-Macklin caused by a novel mutation in the KRT1 gene. Br J Dermatol, 168(2), 456-458. doi:10.1111/j.1365-2133.2012.11181.x; Forero, D. A., Wonkam, A., Wang, W., Laissue, P., Lopez-Correa, C., Fernandez-Lopez, J. C., . . . Perry, G. (2016). Current needs for human and medical genomics research infrastructure in low and middle income countries. J Med Genet, 53(7), 438-440. doi:10.1136/jmedgenet-2015-103631; Founds, S. A., Conley, Y. P., Lyons-Weiler, J. F., Jeyabalan, A., Hogge, W. A., & Conrad, K. P. (2009). Altered global gene expression in first trimester placentas of women destined to develop preeclampsia. Placenta, 30(1), 15-24. doi:10.1016/j.placenta.2008.09.015; Fragkiadaki, P., Soulitzis, N., Sifakis, S., Koutroulakis, D., Gourvas, V., Vrachnis, N., & Spandidos, D. A. (2015). Downregulation of notch signaling pathway in late preterm and term placentas from pregnancies complicated by preeclampsia. PLoS One, 10(5), e0126163. doi:10.1371/journal.pone.0126163; George, E. M. (2014). New approaches for managing preeclampsia: clues from clinical and basic research. Clin Ther, 36(12), 1873-1881. doi:10.1016/j.clinthera.2014.09.023; George, E. M., & Bidwell, G. L. (2013). STOX1: A new player in preeclampsia? Hypertension, 61(3), 561-563. doi:10.1161/HYPERTENSIONAHA.111.00721; Goel, A., & Rana, S. (2013). Angiogenic factors in preeclampsia: potential for diagnosis and treatment. Curr Opin Nephrol Hypertens, 22(6), 643-650. doi:10.1097/MNH.0b013e328365ad98; Graves, J. A. (1998). Genomic imprinting, development and disease--is pre-eclampsia caused by a maternally imprinted gene? Reprod Fertil Dev, 10(1), 23-29; Grill, S., Rusterholz, C., Zanetti-Dallenbach, R., Tercanli, S., Holzgreve, W., Hahn, S., & Lapaire, O. (2009). Potential markers of preeclampsia--a review. Reprod Biol Endocrinol, 7, 70. doi:10.1186/1477-7827-7-70; Gubelmann, C., Waszak, S. M., Isakova, A., Holcombe, W., Hens, K., Iagovitina, A., . . . Deplancke, B. (2013). A yeast one-hybrid and microfluidics-based pipeline to map mammalian gene regulatory networks. Molecular Systems Biology, 9, 682-682. doi:10.1038/msb.2013.38; Guenther, C., & Garriga, G. (1996). Asymmetric distribution of the C. elegans HAM-1 protein in neuroblasts enables daughter cells to adopt distinct fates. Development, 122(11), 3509-3518.; Haberle, V., & Lenhard, B. (2016). Promoter architectures and developmental gene regulation. Seminars in Cell & Developmental Biology, 57, 11-23. doi:; Hahn, S., Lapaire, O., & Than, N. G. (2015). Biomarker development for presymptomatic molecular diagnosis of preeclampsia: feasible, useful or even unnecessary? Expert Rev Mol Diagn, 15(5), 617-629. doi:10.1586/14737159.2015.1025757; Haram, K., Mortensen, J. H., & Nagy, B. (2014). Genetic Aspects of Preeclampsia and the HELLP Syndrome. Journal of Pregnancy, 2014, 910751. doi:10.1155/2014/910751; Hawfield, A., & Freedman, B. I. (2009). Pre-eclampsia: the pivotal role of the placenta in its pathophysiology and markers for early detection. Ther Adv Cardiovasc Dis, 3(1), 65-73. doi:10.1177/1753944708097114; Hellman, L. M., & Fried, M. G. (2007). Electrophoretic mobility shift assay (EMSA) for detecting protein-nucleic acid interactions. Nat Protoc, 2(8), 1849-1861. doi:10.1038/nprot.2007.249; Jebbink, J., Wolters, A., Fernando, F., Afink, G., van der Post, J., & Ris-Stalpers, C. (2012). Molecular genetics of preeclampsia and HELLP syndrome — A review. Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 1822(12), 1960-1969. doi:; Jeyabalan, A. (2013). Epidemiology of preeclampsia: impact of obesity. Nutr Rev, 71 Suppl 1, S18-25. doi:10.1111/nure.12055; Kanasaki, K., & Kalluri, R. (2009). The Biology of Preeclampsia. Kidney international, 76(8), 831-837. doi:10.1038/ki.2009.284; Kivinen, K., Peterson, H., Hiltunen, L., Laivuori, H., Heino, S., Tiala, I., . . . Kere, J. (2007). Evaluation of STOX1 as a preeclampsia candidate gene in a population-wide sample. Eur J Hum Genet, 15(4), 494-497. doi:10.1038/sj.ejhg.5201788; Kleinrouweler, C. E., van Uitert, M., Moerland, P. D., Ris-Stalpers, C., van der Post, J. A., & Afink, G. B. (2013). Differentially expressed genes in the pre-eclamptic placenta: a systematic review and meta-analysis. PLoS One, 8(7), e68991. doi:10.1371/journal.pone.0068991; Kubota, K., Kent, L. N., Rumi, M. A. K., Roby, K. F., & Soares, M. J. (2015). Dynamic Regulation of AP-1 Transcriptional Complexes Directs Trophoblast Differentiation. In Mol Cell Biol (Vol. 35, pp. 3163-3177). 1752 N St., N.W., Washington, DC.; L'Hote, D., Laissue, P., Serres, C., Montagutelli, X., Veitia, R. A., & Vaiman, D. (2010). Interspecific resources: a major tool for quantitative trait locus cloning and speciation research. Bioessays, 32(2), 132-142. doi:10.1002/bies.200900027; Laissue, P. (2015). Aetiological coding sequence variants in non-syndromic premature ovarian failure: From genetic linkage analysis to next generation sequencing. Mol Cell Endocrinol, 411, 243-257. doi:10.1016/j.mce.2015.05.005; Laissue, P. (2018). The molecular complexity of primary ovarian insufficiency aetiology and the use of massively parallel sequencing. Mol Cell Endocrinol, 460, 170-180. doi:10.1016/j.mce.2017.07.021; Laissue, P., Burgio, G., l'Hote, D., Renault, G., Marchiol-Fournigault, C., Fradelizi, D., . . . Vaiman, D. (2009). Identification of Quantitative Trait Loci responsible for embryonic lethality in mice assessed by ultrasonography. Int J Dev Biol, 53(4), 623-629. doi:10.1387/ijdb.082613pl; Laissue, P., L'Hote, D., Serres, C., & Vaiman, D. (2009). Mouse models for identifying genes modulating fertility parameters. Animal, 3(1), 55-71. doi:10.1017/s1751731108003315; Laissue, P., Lakhal, B., Benayoun, B. A., Dipietromaria, A., Braham, R., Elghezal, H., . . . Veitia, R. A. (2009). Functional evidence implicating FOXL2 in non-syndromic premature ovarian failure and in the regulation of the transcription factor OSR2. J Med Genet, 46(7), 455-457. doi:10.1136/jmg.2008.065086; Laissue, P., Lakhal, B., Vatin, M., Batista, F., Burgio, G., Mercier, E., . . . Vaiman, D. (2016). Association of FOXD1 variants with adverse pregnancy outcomes in mice and humans. Open Biol, 6(10). doi:10.1098/rsob.160109; Laissue, P., Restrepo, C. M., & Ortiz, A. M. (2017). Improving the evaluation of milestones for students completing a clinical genetics elective. Genet Med, 19(12). doi:10.1038/gim.2017.62; Lakhal, B., Laissue, P., Braham, R., Elghezal, H., Saad, A., Fellous, M., & Veitia, R. A. (2010). BMP15 and premature ovarian failure: causal mutations, variants, polymorphisms? In Clin Endocrinol (Oxf) (Vol. 72, pp. 425-426). England.; Lakhal, B., Laissue, P., Elghezal, H., & Fellous, M. (2008). [Genetic analysis of premature ovarian failure: role of forkhead and TGF-beta genes]. Gynecol Obstet Fertil, 36(9), 862-871. doi:10.1016/j.gyobfe.2008.07.002; Lavery, D. N., Villaronga, M. A., Walker, M. M., Patel, A., Belandia, B., & Bevan, C. L. (2011). Repression of androgen receptor activity by HEYL, a third member of the Hairy/Enhancer-of-split-related family of Notch effectors. J Biol Chem, 286(20), 17796-17808. doi:10.1074/jbc.M110.198655; Lonergan, M., Aponso, D., Marvin, K. W., Helliwell, R. J. A., Sato, T. A., Mitchell, M. D., . . . Keelan, J. A. (2003). Tumor Necrosis Factor-Related Apoptosis-Inducing Ligand (TRAIL), TRAIL Receptors, and the Soluble Receptor Osteoprotegerin in Human Gestational Membranes and Amniotic Fluid during Pregnancy and Labor at Term and Preterm. The Journal of Clinical Endocrinology & Metabolism, 88(8), 3835-3844. doi:10.1210/jc.2002-021905; Lynch, A. M., & Salmon, J. E. (2010). Dysregulated complement activation as a common pathway of injury in preeclampsia and other pregnancy complications. Placenta, 31(7), 561-567. doi:10.1016/j.placenta.2010.03.010; Maharaj, A. S., Saint-Geniez, M., Maldonado, A. E., & D'Amore, P. A. (2006). Vascular endothelial growth factor localization in the adult. Am J Pathol, 168(2), 639-648. doi:10.2353/ajpath.2006.050834; Mahony, S., & Pugh, B. F. (2015). Protein-DNA binding in high-resolution. Critical reviews in biochemistry and molecular biology, 50(4), 269-283. doi:10.3109/10409238.2015.1051505; Maier, M. M., & Gessler, M. (2000). Comparative analysis of the human and mouse Hey1 promoter: Hey genes are new Notch target genes. Biochem Biophys Res Commun, 275(2), 652-660. doi:10.1006/bbrc.2000.3354; Mateus, H. E., Perez, A. M., Mesa, M. L., Escobar, G., Galvez, J. M., Montano, J. I., . . . Laissue, P. (2017). A first description of the Colombian national registry for rare diseases. BMC Res Notes, 10(1), 514. doi:10.1186/s13104-017-2840-1; Maynard, S. E., Min, J. Y., Merchan, J., Lim, K. H., Li, J., Mondal, S., . . . Karumanchi, S. A. (2003). Excess placental soluble fms-like tyrosine kinase 1 (sFlt1) may contribute to endothelial dysfunction, hypertension, and proteinuria in preeclampsia. J Clin Invest, 111(5), 649-658. doi:10.1172/jci17189; Melchiorre, K., Sharma, R., & Thilaganathan, B. (2014). Cardiovascular implications in preeclampsia: an overview. Circulation, 130(8), 703-714. doi:10.1161/circulationaha.113.003664; Ming, Q., Roske, Y., Schuetz, A., Walentin, K., Ibraimi, I., Schmidt-Ott, K. M., & Heinemann, U. (2018). Structural basis of gene regulation by the Grainyhead/CP2 transcription factor family. Nucleic Acids Res, 46(4), 2082-2095. doi:10.1093/nar/gkx1299; Mitropoulos, K., Al Jaibeji, H., Forero, D. A., Laissue, P., Wonkam, A., Lopez-Correa, C., . . . Patrinos, G. P. (2015). Success stories in genomic medicine from resource-limited countries. Hum Genomics, 9, 11. doi:10.1186/s40246-015-0033-3; Mutter, W. P., & Karumanchi, S. A. (2008). Molecular mechanisms of preeclampsia. Microvasc Res, 75(1), 1-8. doi:10.1016/j.mvr.2007.04.009; Myatt, L., & Webster, R. P. (2009). Vascular biology of preeclampsia. J Thromb Haemost, 7(3), 375-384. doi:10.1111/j.1538-7836.2008.03259.x; Naljayan, M. V., & Karumanchi, S. A. (2013). NEW DEVELOPMENTS IN THE PATHOGENESIS OF PREECLAMPSIA. Advances in chronic kidney disease, 20(3), 265-270. doi:10.1053/j.ackd.2013.02.003; Nicolaides, K. H., Bindra, R., Turan, O. M., Chefetz, I., Sammar, M., Meiri, H., . . . Cuckle, H. S. (2006). A novel approach to first-trimester screening for early pre-eclampsia combining serum PP-13 and Doppler ultrasound. Ultrasound Obstet Gynecol, 27(1), 13-17. doi:10.1002/uog.2686; Nino, M. Y., Mateus, H. E., Fonseca, D. J., Kroos, M. A., Ospina, S. Y., Mejia, J. F., . . . Laissue, P. (2013). Identification and Functional Characterization of GAA Mutations in Colombian Patients Affected by Pompe Disease. JIMD Rep, 7, 39-48. doi:10.1007/8904_2012_138; Ojeda, D., Lakhal, B., Fonseca, D. J., Braham, R., Landolsi, H., Mateus, H. E., . . . Laissue, P. (2011). Sequence analysis of the CDKN1B gene in patients with premature ovarian failure reveals a novel mutation potentially related to the phenotype. Fertil Steril, 95(8), 2658-2660.e2651. doi:10.1016/j.fertnstert.2011.04.045; Ortega-Recalde, O., Beltran, O. I., Galvez, J. M., Palma-Montero, A., Restrepo, C. M., Mateus, H. E., & Laissue, P. (2015). Biallelic HERC1 mutations in a syndromic form of overgrowth and intellectual disability. Clin Genet, 88(4), e1-3. doi:10.1111/cge.12634; Ortega-Recalde, O., Fonseca, D. J., Patino, L. C., Atuesta, J. J., Rivera-Nieto, C., Restrepo, C. M., . . . Laissue, P. (2013). A novel familial case of diffuse leukodystrophy related to NDUFV1 compound heterozygous mutations. Mitochondrion, 13(6), 749-754. doi:10.1016/j.mito.2013.03.010; Ortega-Recalde, O., Moreno, M. B., Vergara, J. I., Fonseca, D. J., Rojas, R. F., Mosquera, H., . . . Laissue, P. (2015). A novel TGM1 mutation, leading to multiple splicing rearrangements, is associated with autosomal recessive congenital ichthyosis. Clin Exp Dermatol, 40(7), 757-760. doi:10.1111/ced.12627; Ortega-Recalde, O., Silgado, D., Fetiva, C., Fonseca, D. J., & Laissue, P. (2016). Transcriptomic analysis of skin in a case of ichthyosis Curth-Macklin caused by a KRT1 mutation. Br J Dermatol, 175(6), 1372-1375. doi:10.1111/bjd.149; Ortega-Recalde, O., Vergara, J. I., Fonseca, D. J., Rios, X., Mosquera, H., Bermudez, O. M., . . . Laissue, P. (2014). Whole-exome sequencing enables rapid determination of xeroderma pigmentosum molecular etiology. PLoS One, 8(6), e64692. doi:10.1371/journal.pone.0064692; Ouwerkerk, P. B., & Meijer, A. H. (2001). Yeast one-hybrid screening for DNA-protein interactions. Curr Protoc Mol Biol, Chapter 12, Unit 12.12. doi:10.1002/0471142727.mb1212s5; Palei, A. C., Spradley, F. T., Warrington, J. P., George, E. M., & Granger, J. P. (2013). Pathophysiology of Hypertension in Preeclampsia: A Lesson in Integrative Physiology. Acta physiologica (Oxford, England), 208(3), 224-233. doi:10.1111/apha.12106; Pares-Matos, E. I. (2013). Electrophoretic mobility-shift and super-shift assays for studies and characterization of protein-DNA complexes. Methods Mol Biol, 977, 159-167. doi:10.1007/978-1-62703-284-1_12; Park, H. J., Shim, S. S., & Cha, D. H. (2015). Combined Screening for Early Detection of Pre-Eclampsia. Int J Mol Sci, 16(8), 17952-17974. doi:10.3390/ijms160817952; Patino, L. C., Battu, R., Ortega-Recalde, O., Nallathambi, J., Anandula, V. R., Renukaradhya, U., & Laissue, P. (2014). Exome sequencing is an efficient tool for variant late-infantile neuronal ceroid lipofuscinosis molecular diagnosis. PLoS One, 9(10), e109576. doi:10.1371/journal.pone.0109576; Patino, L. C., Beau, I., Carlosama, C., Buitrago, J. C., Gonzalez, R., Suarez, C. F., . . . Laissue, P. (2017). New mutations in non-syndromic primary ovarian insufficiency patients identified via whole-exome sequencing. Hum Reprod, 32(7), 1512-1520. doi:10.1093/humrep/dex089; Patino, L. C., Silgado, D., & Laissue, P. (2017). A potential functional association between mutant BMPR2 and primary ovarian insufficiency. Syst Biol Reprod Med, 63(3), 145-149. doi:10.1080/19396368.2017.1291767; Patino, L. C., Walton, K. L., Mueller, T. D., Johnson, K. E., Stocker, W., Richani, D., . . . Harrison, C. A. (2017). BMP15 Mutations Associated With Primary Ovarian Insufficiency Reduce Expression, Activity, or Synergy With GDF9. J Clin Endocrinol Metab, 102(3), 1009-1019. doi:10.1210/jc.2016-3503; Pennington, K. A., Schlitt, J. M., Jackson, D. L., Schulz, L. C., & Schust, D. J. (2012). Preeclampsia: multiple approaches for a multifactorial disease. Dis Model Mech, 5(1), 9-18. doi:10.1242/dmm.008516; Petla, L. T., Chikkala, R., Ratnakar, K. S., Kodati, V., & Sritharan, V. (2013). Biomarkers for the management of pre-eclampsia in pregnant women. Indian J Med Res, 138, 60-67.; Powe, C. E., Levine, R. J., & Karumanchi, S. A. (2011). Preeclampsia, a disease of the maternal endothelium: the role of antiangiogenic factors and implications for later cardiovascular disease. Circulation, 123(24), 2856-2869. doi:10.1161/circulationaha.109.853127; Prada, C. F., & Laissue, P. (2014). A high resolution map of mammalian X chromosome fragile regions assessed by large-scale comparative genomics. Mamm Genome, 25(11-12), 618-635. doi:10.1007/s00335-014-9537-8; Queimado, L., Lopes, C., Du, F., Martins, C., Bowcock, A. M., Soares, J., & Lovett, M. (1999). Pleomorphic adenoma gene 1 is expressed in cultured benign and malignant salivary gland tumor cells. Lab Invest, 79(5), 583-589.; Quintero-Ronderos, P., Mercier, E., Fukuda, M., Gonzalez, R., Suarez, C. F., Patarroyo, M. A., . . . Laissue, P. (2017). Novel genes and mutations in patients affected by recurrent pregnancy loss. PLoS One, 12(10), e0186149. doi:10.1371/journal.pone.0186149; Quintero-Ronderos, P., Mercier, E., Gris, J. C., Esteban-Perez, C., Moreno-Ortiz, H., Fonseca, D. J., . . . Laissue, P. (2017). THBD sequence variants potentially related to recurrent pregnancy loss. Reprod Biol Endocrinol, 15(1), 92. doi:10.1186/s12958-017-0311-0; Ramma, W., & Ahmed, A. (2011). Is inflammation the cause of pre-eclampsia? Biochem Soc Trans, 39(6), 1619-1627. doi:10.1042/bst20110672; Rigourd, V., Chauvet, C., Chelbi, S. T., Rebourcet, R., Mondon, F., Letourneur, F., . . . Vaiman, D. (2008). STOX1 Overexpression in Choriocarcinoma Cells Mimics Transcriptional Alterations Observed in Preeclamptic Placentas. PLoS ONE, 3(12), e3905. doi:10.1371/journal.pone.0003905; Rigourd, V., Chelbi, S., Chauvet, C., Rebourcet, R., Barbaux, S., Bessieres, B., . . . Vaiman, D. (2009). Re-evaluation of the role of STOX1 transcription factor in placental development and preeclampsia. J Reprod Immunol, 82(2), 174-181. doi:10.1016/j.jri.2009.05.001; Roland, C. S., Hu, J., Ren, C. E., Chen, H., Li, J., Varvoutis, M. S., . . . Jiang, S. W. (2016). Morphological changes of placental syncytium and their implications for the pathogenesis of preeclampsia. Cell Mol Life Sci, 73(2), 365-376. doi:10.1007/s00018-015-2069-x; Roy, A. L., & Singer, D. S. (2015). Core promoters in transcription: old problem, new insights. Trends Biochem Sci, 40(3), 165-171. doi:10.1016/j.tibs.2015.01.007; Salonen Ros, H., Lichtenstein, P., Lipworth, L., & Cnattingius, S. (2000). Genetic effects on the liability of developing pre-eclampsia and gestational hypertension. Am J Med Genet, 91(4), 256-260.; Simoncini, S., Njock, M. S., Robert, S., Camoin-Jau, L., Sampol, J., Harle, J. R., . . . Anfosso, F. (2009). TRAIL/Apo2L mediates the release of procoagulant endothelial microparticles induced by thrombin in vitro: a potential mechanism linking inflammation and coagulation. Circ Res, 104(8), 943-951. doi:10.1161/circresaha.108.183285; Staff, A. C., Benton, S. J., von Dadelszen, P., Roberts, J. M., Taylor, R. N., Powers, R. W., . . . Redman, C. W. (2013). Redefining preeclampsia using placenta-derived biomarkers. Hypertension, 61(5), 932-942. doi:10.1161/hypertensionaha.111.00250; SIVIGILA. (2013). Mortalidad Materna. In.; Thulluru, H. K., Park, C., Dufort, D., Kleiverda, G., Oudejans, C., & van Dijk, M. (2013). Maternal Nodal inversely affects NODAL and STOX1 expression in the fetal placenta. Front Genet, 4, 170. doi:10.3389/fgene.2013.00170; Uzan, J., Carbonnel, M., Piconne, O., Asmar, R., & Ayoubi, J. M. (2011). Pre-eclampsia: pathophysiology, diagnosis, and management. Vasc Health Risk Manag, 7, 467-474. doi:10.2147/vhrm.s20181; Vaiman, D., & Miralles, F. (2016). Targeting STOX1 in the therapy of preeclampsia. Expert Opin Ther Targets, 20(12), 1433-1443. doi:10.1080/14728222.2016.1253682; Valenzuela, F. J., Pérez-Sepúlveda, A., Torres, M. J., Correa, P., Repetto, G. M., & Illanes, S. E. (2012). Pathogenesis of Preeclampsia: The Genetic Component. Journal of Pregnancy, 2012, 632732. doi:10.1155/2012/632732; Valero-Rubio, D., Jimenez, K. M., Fonseca, D. J., Payan-Gomez, C., & Laissue, P. (2018). Transcriptomic analysis of FUCA1 knockdown in keratinocytes reveals new insights in the pathogenesis of fucosidosis skin lesions. Exp Dermatol. doi:10.1111/exd.13532; van Abel, D., Michel, O., Veerhuis, R., Jacobs, M., van Dijk, M., & Oudejans, C. B. (2012). Direct downregulation of CNTNAP2 by STOX1A is associated with Alzheimer's disease. J Alzheimers Dis, 31(4), 793-800. doi:10.3233/jad-2012-120472; van Dijk, M., Drewlo, S., & Oudejans, C. B. (2010). Differential methylation of STOX1 in human placenta. Epigenetics, 5(8), 736-742. doi:10.4161/epi.5.8.13084; van Dijk, M., Mulders, J., Poutsma, A., Konst, A. A., Lachmeijer, A. M., Dekker, G. A., . . . Oudejans, C. B. (2005). Maternal segregation of the Dutch preeclampsia locus at 10q22 with a new member of the winged helix gene family. Nat Genet, 37(5), 514-519. doi:10.1038/ng1541; van Dijk, M., & Oudejans, C. B. M. (2011). STOX1: Key Player in Trophoblast Dysfunction Underlying Early Onset Preeclampsia with Growth Retardation. Journal of Pregnancy, 2011, 521826. doi:10.1155/2011/521826; van Dijk, M., van Bezu, J., van Abel, D., Dunk, C., Blankenstein, M. A., Oudejans, C. B., & Lye, S. J. (2010). The STOX1 genotype associated with pre-eclampsia leads to a reduction of trophoblast invasion by alpha-T-catenin upregulation. Hum Mol Genet, 19(13), 2658-2667. doi:10.1093/hmg/ddq152; Vatin, M., Bouvier, S., Bellazi, L., Montagutelli, X., Laissue, P., Ziyyat, A., . . . Gris, J. C. (2014). Polymorphisms of human placental alkaline phosphatase are associated with in vitro fertilization success and recurrent pregnancy loss. Am J Pathol, 184(2), 362-368. doi:10.1016/j.ajpath.2013.10.024; Wang, A., Rana, S., & Karumanchi, S. A. (2009). Preeclampsia: the role of angiogenic factors in its pathogenesis. Physiology (Bethesda), 24, 147-158. doi:10.1152/physiol.00043.2008; Wiley, S. R., Schooley, K., Smolak, P. J., Din, W. S., Huang, C. P., Nicholl, J. K., . . . et al. (1995). Identification and characterization of a new member of the TNF family that induces apoptosis. Immunity, 3(6), 673-682.; Williams, P. J., & Broughton Pipkin, F. (2011). The genetics of pre-eclampsia and other hypertensive disorders of pregnancy. Best Pract Res Clin Obstet Gynaecol, 25(4), 405-417. doi:10.1016/j.bpobgyn.2011.02.007; Williams, P. J., & Broughton Pipkin, F. (2011). The genetics of pre-eclampsia and other hypertensive disorders of pregnancy. Best Practice & Research. Clinical Obstetrics & Gynaecology, 25(4-4), 405-417. doi:10.1016/j.bpobgyn.2011.02.007; Xie, Z., Hu, S., Qian, J., Blackshaw, S., & Zhu, H. (2011). Systematic characterization of protein-DNA interactions. Cell Mol Life Sci, 68(10), 1657-1668. doi:10.1007/s00018-010-0617-y
Notes :
application/pdf, Spanish
Publication Type :
Electronic Resource
Accession number :
edsoai.on1046085410
Document Type :
Electronic Resource

Tools

Authors Abstract Subjects Details