Navegar

Colección

Datos Estadísticas

Lista de

gene mutation
100
"Strategy for the analysis of tissue-specific methylation changes without physical isolation" (2019) Beyrne, C.C.; González, R.M.; Iusem, N.D. Epigenetics. 14(1):41-51
"CYP21A2 mutation update: Comprehensive analysis of databases and published genetic variants" (2018) Simonetti, L.;Bruque, C.D.;Fernández, C.S. (...)Dain, L. Human Mutation. 39(1):5-22
"Abrogation of glucosidase I–mediated glycoprotein deglucosylation results in a sick phenotype in fission yeasts: Model for the human MOGS-CDG disorder" (2018) Gallo, G.L.;Valko, A.;Aramburu, S.I. (...)D’Alessio, C. Journal of Biological Chemistry. 293(52):19957-19973
"Superoxide dismutase 1 expression is modulated by the core pluripotency transcription factors Oct4, Sox2 and Nanog in embryonic stem cells" (2018) Solari, C.;Petrone, M.V.;Vazquez Echegaray, C. (...)Guberman, A. Mechanisms of Development. 154:116-121
"ABSENCE of PARVOVIRUS SHEDDING in FECES of THREATENED CARNIVORES from MISIONES, Argentina" (2018) Orozco, M.M.;Bucafusco, D.;Argibay, H.D. (...)Gürtler, R.E. Journal of Zoo and Wildlife Medicine. 49(4):1054-1060
"Inducible ablation of dopamine D2 receptors in adult mice impairs locomotion, motor skill learning and leads to severe parkinsonism" (2017) Bello, E.P.;Casas-Cordero, R.;Galiñanes, G.L. (...)Rubinstein, M. Molecular Psychiatry. 22(4):595-604
"Preliminary spectrum of genetic variants in familial hypercholesterolemia in Argentina" (2017) Bañares, V.G.;Corral, P.;Medeiros, A.M. (...)Schreier, L.E. Journal of Clinical Lipidology. 11(2):524-531
"Non-myogenic tumors display altered expression of dystrophin (DMD) and a high frequency of genetic alterations" (2017) Luce, L.N.; Abbate, M.; Cotignola, J.; Giliberto, F. Oncotarget. 8(1):145-155
"Histone methylation, alternative splicing and neuronal differentiation" (2016) Fiszbein, A.; Kornblihtt, A.R. Neurogenesis. 3(1)
"Viruses: As mediators in “Élan vital” of the “creative” evolution" (2016) Artuso, M.C.; Roldán, J.S.; Scolaro, L.A.; Carlucci, M.J. Infection, Genetics and Evolution. 46:78-84
"Natural genetic variation and candidate genes for morphological traits in drosophila melanogaster" (2016) Carreira, V.P.; Mensch, J.; Hasson, E.; Fanara, J.J. PLoS ONE. 11(7)
"Deletion of pilA, a Minor Pilin-Like Gene, from Xanthomonas citri subsp. citri Influences Bacterial Physiology and Pathogenesis" (2016) Petrocelli, S.;Arana, M.R.;Cabrini, M.N. (...)Orellano, E.G. Current Microbiology. 73(6):904-914
"RSUME inhibits VHL and regulates its tumor suppressor function" (2015) Gerez, J.;Tedesco, L.;Bonfiglio, J.J. (...)Arzt, E. Oncogene. 34(37):4855-4866
"Islet 1 specifies the identity of hypothalamic melanocortin neurons and is critical for normal food intake and adiposity in adulthood" (2015) Nasif, S.;De Souza, F.S.J.;González, L.E. (...)Rubinstein, M. Proceedings of the National Academy of Sciences of the United States of America. 112(15):E1861-E1870
"The estrogen receptor alpha nuclear localization sequence is critical for fulvestrant-induced degradation of the receptor" (2015) Casa, A.J.;Hochbaum, D.;Sreekumar, S. (...)Lee, A.V. Molecular and Cellular Endocrinology. 415:76-86
"New sequence variations in spermatogenesis candidates genes" (2015) Poli, M.N.;Iriarte, P.F.;Iudica, C. (...)Coco, R. Jornal Brasileiro de Reproducao Assistida. 19(4):216-222
"Whole genome sequencing reveals a de novo SHANK3 mutation in familial autism spectrum disorder" (2015) Nemirovsky, S.I.;Córdoba, M.;Zaiat, J.J. (...)Kauffman, M.A. PLoS ONE. 10(2)
"Baseline HIV-1 resistance, virological outcomes, and emergent resistance in the SECOND-LINE trial: An exploratory analysis" (2015) Boyd, M.A.;Moore, C.L.;Molina, J.-M. (...)Cooper, D.A. The Lancet HIV. 2(2):e42-e51
"Molecular diagnosis of dystrophinopathies using a multi-technique analysis algorithm" (2014) Luce, L.N.;Ottaviani, D.;Ferrer, M. (...)Giliberto, F. Muscle and Nerve. 49(2):249-256
"Calcium channels and synaptic transmission in familial hemiplegic migraine type 1 animal models" (2014) Uchitel, O.D.; González Inchauspe, C.; Di Guilmi, M.N. Biophysical Reviews. 6(1):15-26
"Functional associations of genetic variants involved in the clinical manifestation of erythropoietic protoporphyria in the Argentinean population" (2013) Colombo, F.P.;Rossetti, M.V.;Méndez, M. (...)Parera, V.E. Journal of the European Academy of Dermatology and Venereology. 27(6):754-762
"Molecular basis of mineralocorticoid receptor action in the nervous system" (2013) Molinari, A.M.;Machado-Rada, M.Y.;Mazaira, G.I. (...)Galigniana, M.D. CNS and Neurological Disorders - Drug Targets. 12(8):1163-1174
"RSUME enhances glucocorticoid receptor SUMOylation and transcriptional activity" (2013) Druker, J.;Liberman, A.C.;Antunica-Noguerol, M. (...)Arzta, E. Molecular and Cellular Biology. 33(11):2116-2127
"Folding of a cyclin box: Linking multitarget binding to marginal stability, oligomerization, and aggregation of the retinoblastoma tumor suppressor ab pocket domain" (2013) Chemes, L.B.; Noval, M.G.; Sánchez, I.E.; De Prat-Gay, G. Journal of Biological Chemistry. 288(26):18923-18938
"Application of BRED technology to construct recombinant D29 reporter phage expressing EGFP" (2013) da Silva, J.L.;Piuri, M.;Broussard, G. (...)Hirata, M.H. FEMS Microbiology Letters. 344(2):166-172
"Ca V2.1 voltage activated calcium channels and synaptic transmission in familial hemiplegic migraine pathogenesis" (2012) Uchitel, O.D.; Inchauspe, C.G.; Urbano, F.J.; Di Guilmi, M.N. Journal of Physiology Paris. 106(1-2):12-22
"The Caenorhabditis elegans DAF-12 nuclear receptor: Structure, dynamics, and interaction with ligands" (2012) Alvarez, L.D.; Mañez, P.A.; Estrin, D.A.; Burton, G. Proteins: Structure, Function and Bioinformatics. 80(7):1798-1809
"Interplay between the transcription factors acting on the GATA- and GABA-responsive elements of Saccharomyces cerevisiae UGA promoters" (2012) Cardillo, S.B.; Levi, C.E.; Moretti, M.B.; García, S.C. Microbiology. 158(4):925-935
"Presynaptic Cav2.1 calcium channels carrying familial hemiplegic migraine mutation R192Q allow faster recovery from synaptic depression in mouse calyx of Held" (2012) Inchauspe, C.G.;Urbano, F.J.;Di Guilmi, M.N. (...)Uchitel, O.D. Journal of Neurophysiology. 108(11):2967-2976
"Molecular analysis of the UROD gene in 17 Argentinean patients with familial porphyria cutanea tarda: Characterization of four novel mutations" (2012) Méndez, M.;Rossetti, M.V.;Gómez-Abecia, S. (...)Enríquez de Salamanca, R. Molecular Genetics and Metabolism. 105(4):629-633
"PKA isoforms coordinate mRNA fate during nutrient starvation" (2012) Tudisca, V.;Simpson, C.;Castelli, L. (...)Portela, P. Journal of Cell Science. 125(21):5221-5232
"Unequal gains of function are a headache for migraine mechanisms" (2012) Uchitel, O.D. Journal of Physiology. 590(1):1-2
"Evolution of linear motifs within the papillomavirus E7 oncoprotein" (2012) Chemes, L.B.;Glavina, J.;Faivovich, J. (...)Sánchez, I.E. Journal of Molecular Biology. 422(3):336-346
"Patterning embryos with oscillations: Structure, function and dynamics of the vertebrate segmentation clock" (2012) Oates, A.C.; Morelli, L.G.; Ares, S. Development. 139(4):625-639
"Stemness markers characterize IGR-CaP1, a new cell line derived from primary epithelial prostate cancer" (2011) Chauchereau, A.;Al Nakouzi, N.;Gaudin, C. (...)Fizazi, K. Experimental Cell Research. 317(3):262-275
"Ligand migration in the apolar tunnel of Cerebratulus lacteus mini-hemoglobin" (2011) Pesce, A.;Nardini, M.;Dewilde, S. (...)Olson, J.S. Journal of Biological Chemistry. 286(7):5347-5358
"Structure-based analysis of five novel disease-causing mutations in 21-hydroxylase-deficient patients" (2011) Minutolo, C.;Nadra, A.D.;Fernández, C. (...)Dain, L. PLoS ONE. 6(1)
"Folding kinetics of the cooperatively folded subdomain of the IκBα ankyrin repeat domain" (2011) Devries, I.; Ferreiro, D.U.; Sánchez, I.E.; Komives, E.A. Journal of Molecular Biology. 408(1):163-176
"Molecular basis for the substrate stereoselectivity in tryptophan dioxygenase" (2011) Capece, L.;Lewis-Ballester, A.;Marti, M.A. (...)Yeh, S.-R. Biochemistry. 50(50):10910-10918
"Gain of function in FHM-1 CaV2.1 knock-in mice is related to the shape of the action potential" (2010) Inchauspe, C.G.;Urbano, F.J.;Di Guilmi, M.N. (...)Uchitel, O.D. Journal of Neurophysiology. 104(1):291-299
"Clinical characteristics and therapeutic responses in patients with germ-line AIP mutations and pituitary adenomas: An international collaborative study" (2010) Daly, A.F.;Tichomirowa, M.A.;Petrossians, P. (...)Beckers, A. Journal of Clinical Endocrinology and Metabolism. 95(11):E373-E383
"Introducing transcription" (2010) Kornblihtt, A.R. Transcription. 1(1):1
"Structure of the glucocorticoid receptor, a flexible protein that can adapt to different ligands" (2010) Veleiro, A.S.; Alvarez, L.D.; Eduardo, S.L.; Burton, G. ChemMedChem. 5(5):649-659
"A methyl transferase links the circadian clock to the regulation of alternative splicing" (2010) Sanchez, S.E.;Petrillo, E.;Beckwith, E.J. (...)Yanovsky, M.J. Nature. 468(7320):112-116
"The cin and rai quorum-sensing regulatory systems in Rhizobium leguminosarum are coordinated by ExpR and CinS, a small regulatory protein coexpressed with CinI" (2009) Edwards, A.;Frederix, M.;Wisniewski-Dyé, F. (...)Allan Downie, J. Journal of Bacteriology. 191(9):3059-3067
"HFE gene mutations in patients with altered iron metabolism in Argentina" (2009) Rossetti, M.V.;Méndez, M.;Afonso, S. (...)Parera, V.E. Cellular and Molecular Biology. 55(2):31-35
"High salt stress in Bacillus subtilis: involvement of PBP4* as a peptidoglycan hydrolase" (2009) Palomino, M.M.; Sanchez-Rivas, C.; Ruzal, S.M. Research in Microbiology. 160(2):117-124
"Molecular interaction of BMP-4, TGF-β, and estrogens in lactotrophs: Impact on the PRL promoter" (2009) Giacomini, D.;Páez-Pereda, M.;Stalla, J. (...)Arzt, E. Molecular Endocrinology. 23(7):1102-1114
"Geographical clustering of Trypanosoma cruzi I groups from Colombia revealed by low-stringency single specific primer-PCR of the intergenic regions of spliced-leader genes" (2009) Mejía-Jaramillo, A.M.;Arboleda-Sánchez, S.;Rodríguez, I.B. (...)Schijman, A.G. Parasitology Research. 104(2):399-410
"MMTV-induced pregnancy-dependent mammary tumors: Early history and new perspectives" (2008) Kordon, E.C. Journal of Mammary Gland Biology and Neoplasia. 13(3):289-297
"Escherichia coli arcA mutants: Metabolic profile characterization of microaerobic cultures using glycerol as a carbon source" (2008) Nikel, P.I.;Pettinari, M.J.;Ramírez, M.C. (...)Méndez, B.S. Journal of Molecular Microbiology and Biotechnology. 15(1):48-54
"ArcA redox mutants as a source of reduced bioproducts" (2008) Pettinari, M.J.; Nikel, P.I.; Ruiz, J.A.; Méndez, B.S. Journal of Molecular Microbiology and Biotechnology. 15(1):41-47
"Diagnosis of familial amyloid polyneuropathy type I in Argentina " (2008) Pérez, G.;Romero, M.C.;Trigo, P. (...)Nesse, A. Medicina. 68(4):273-281
"The legacy of HfrH: Mutations in the two-component system CreBC are responsible for the unusual phenotype of an Escherichia coli arcA mutant" (2008) Nikel, P.I.; De Almeida, A.; Pettinari, M.J.; Méndez, B.S. Journal of Bacteriology. 190(9):3404-3407
"Properties of mutated murine α4β2 nicotinic receptors linked to partial epilepsy" (2008) Lipovsek, M.;Plazas, P.;Savino, J. (...)Katz, E. Neuroscience Letters. 434(2):165-169
"The pathology of pre-mRNA splicing: A meeting in the Italian Alps. Workshop on Pre-mRNA Processing and Disease" (2007) Caceres, J.F.; Krainer, A.R.; Kornblihtt, A.R. EMBO Reports. 8(8):730-734
"Congenital adrenal hyperplasia. Clinical characteristics and genotype in newborn, childhood and adolescence " (2007) Pasqualini, T.;Alonso, G.;Tomasini, R. (...)Dain, L. Medicina. 67(3):253-261
"The Trypanosoma cruzi PIN1 gene encodes a parvulin peptidyl-prolyl cis/trans isomerase able to replace the essential ESS1 in Saccharomyces cerevisiae" (2007) Erben, E.D.; Daum, S.; Téllez-Iñón, M.T. Molecular and Biochemical Parasitology. 153(2):186-193
"Selection of early-occurring mutations dictates hormone-independent progression in mouse mammary tumor lines" (2006) Gattelli, A.;Zimberlin, M.N.;Meiss, R.P. (...)Kordon, E.C. Journal of Virology. 80(22):11409-11415
"Dye( arc)mutants: Insights into an unexplained phenotype and its suppression by the synthesis of poly (3-hydroxybutyrate) in Escherichia coli recombinants" (2006) Ruiz, J.A.;Fernández, R.O.;Nikel, P.I. (...)Pettinari, M.J. FEMS Microbiology Letters. 258(1):55-60
"Role of anionic phospholipids in the adaptation of Bacillus subtilis to high salinity" (2006) López, C.S.;Alice, A.F.;Heras, H. (...)Sánchez-Rivas, C. Microbiology. 152(3):605-616
"Dynamic genetic interactions determine odor-guided behavior in Drosophila melanogaster" (2006) Sambandan, D.;Yamamoto, A.;Fanara, J.-J. (...)Anholt, R.R.H. Genetics. 174(3):1349-1363
"Impaired polyhydroxybutyrate biosynthesis from glucose in Pseudomonas sp. 14-3 is due to a defective β-ketothiolase gene" (2006) Ayub, N.D.; Julia Pettinari, M.; Méndez, B.S.; López, N.I. FEMS Microbiology Letters. 264(1):125-131
"Update on primary HIV-1 resistance in Argentina: Emergence of mutations conferring high-level resistance to nonnucleoside reverse transcriptase inhibitors in drug-naive patients" (2006) Petroni, A.;Deluchi, G.;Pryluka, D. (...)Benetucci, J.A. Journal of Acquired Immune Deficiency Syndromes. 42(4):506-510
"Non frequent Porphyrias in the Argentinean population " (2006) Melito, V.A.; Rossetti, M.V.; Parera, V.E.; Batlle, A. Revista Argentina de Dermatologia. 87(4):248-263
"Poly(3-hydroxybutyrate) synthesis by recombinant Escherichia coli arcA mutants in microaerobiosis" (2006) Nikel, P.I.; Pettinari, M.J.; Galvagno, M.A.; Méndez, B.S. Applied and Environmental Microbiology. 72(4):2614-2620
"Oligonucleotide IMT504 induces an immunogenic phenotype and apoptosis in chronic lymphocytic leukemia cells" (2006) Rodrigues, J.M.;Elias, F.;Montaner, A. (...)Dupont, J. Medicina. 66(1):9-16
"NF-κB transcription factor is required for inhibitory avoidance long-term memory in mice" (2005) Freudenthal, R.;Boccia, M.M.;Acosta, G.B. (...)Romano, A. European Journal of Neuroscience. 21(10):2845-2852
"Neuronal and astroglial alterations in the hippocampus of a mouse model for type 1 diabetes" (2005) Revsin, Y.;Saravia, F.;Roig, P. (...)De Nicola, A.F. Brain Research. 1038(1):22-31
"Promoter usage and alternative splicing" (2005) Kornblihtt, A.R. Current Opinion in Cell Biology. 17(3):262-268
"Stoichiometry of the α9α10 nicotinic cholinergic receptor" (2005) Plazas, P.V.;Katz, E.;Gomez-Casati, M.E. (...)Elgoyhen, A.B. Journal of Neuroscience. 25(47):10905-10912
"What have gonadotrophin overexpressing transgenic mice taught us about gonadal function?" (2005) Rulli, S.B.; Huntaniemi, I. Reproduction. 130(3):283-291
"Cytogenetic findings, Trp53 mutations, and hormone responsiveness in a medroxyprogesterone acetate induced murine breast cancer model" (2005) Fabris, V.T.;Benavides, F.;Conti, C. (...)Lanari, C. Cancer Genetics and Cytogenetics. 161(2):130-139
"Prevalence of GJB2 mutations and the del(GJB6-D13S1830) in Argentinean non-syndromic deaf patients" (2005) Dalamón, V.;Béhèran, A.;Diamante, F. (...)Elgoyhen, A.B. Hearing Research. 207(1-2):43-49
"rpoS gene expression in carbon-starved cultures of the polyhydroxyalkanoate-accumulating species Pseudomonas oleovorans" (2004) Ruiz, J.A.; López, N.I.; Méndez, B.S. Current Microbiology. 48(6):396-400
"Screening of FSH receptor gene in Argentine women with premature ovarian failure (POF)" (2004) Sundblad, V.;Chiauzzi, V.A.;Escobar, M.E. (...)Charreau, E.H. Molecular and Cellular Endocrinology. 222(1-2):53-59
"Constitutive activity of N-β-alanyl-catecholamine ligase in insect brain" (2004) Pérez, M.; Schachter, J.; Quesada-Allué, L.A. Neuroscience Letters. 368(2):186-191
"Elevated serotonin is involved in hyperactivity but not in the paradoxical effect of amphetamine in mice neonatally lesioned with 6-hydroxydopamine" (2004) Avale, M.E.; Nemirovsky, S.I.; Raisman-Vozari, R.; Rubinstein, M. Journal of Neuroscience Research. 78(2):289-296
"Transgenic mice engineered to target Cre/LoxP-mediated DNA recombination into catecholaminergic neurons" (2003) Gelman, D.M.;Noaín, D.;Avale, M.E. (...)Rubinstein, M. Genesis. 36(4):196-202
"Null mutations in the essential gene yrfF (mucM) are not lethal in rcsB, yojN or rcsC strains of Salmonella enterica serovar Typhimurium" (2003) Costa, C.S.; Pettinari, M.J.; Méndez, B.S.; Antón, D.N. FEMS Microbiology Letters. 222(1):25-32
"Influence of Polymerase II Processivity on Alternative Splicing Depends on Splice Site Strength" (2003) Nogués, G.; Muñoz, M.J.; Kornblihtt, A.R. Journal of Biological Chemistry. 278(52):52166-52171
"Biosynthesis of a substituted cellulose from a mutant strain of Xanthomonas campestris" (2002) Vojnov, A.A.; Bassi, D.E.; Daniels, M.J.; Dankert, M.A. Carbohydrate Research. 337(4):315-326
"Alternative splicing: Multiple control mechanisms and involvement in human disease" (2002) Cáceres, J.F.; Kornblihtt, A.R. Trends in Genetics. 18(4):186-193
"Progesterone neuroprotection in the Wobbler mouse, a genetic model of spinal cord motor neuron disease" (2002) Gonzalez Deniselle, M.C.;López-Costa, J.J.;Saavedra, J.P. (...)De Nicola, A.F. Neurobiology of Disease. 11(3):457-468
"Polyhydroxyalkanoate degradation is associated with nucleotide accumulation and enhances stress resistance and survival of Pseudomonas oleovorans in natural water microcosms" (2001) Ruiz, J.A.; López, N.I.; Fernández, R.O.; Méndez, B.S. Applied and Environmental Microbiology. 67(1):225-230
"The indirect basal ganglia pathway in dopamine D2 receptor-deficient mice" (2000) Murer, M.G.;Dziewczapolski, G.;Salin, P. (...)Gershanik, O. Neuroscience. 99(4):643-650
"Prevalence of Three Prothrombotic Polymorphisms: Factor V G1691A, Factor II G20210A and Methylenetetrahydrofolate Reductase (MTHFR) C 677T in Argentina" (2000) Genoud, V.;Castañon, M.;Annichino-Bizzacchi, J. (...)Kordich, L. Thrombosis Research. 100(3):127-131
"Polyhydroxyalkanoates degradation affects survival of Pseudomonas oleovorans in river water microcosms" (1999) Ruiz, J.A.; Lopez, N.I.; Mendez, B.S. Revista Argentina de Microbiologia. 31(4):201-204
"Mutation 1091delC is highly prevalent in Spanish Sanfilippo syndrome type A patients" (1998) Montfort, M.;Vilageliu, L.;Garcia-Giralt, N. (...)Grinberg, D. Human Mutation. 12(4):274-279
"Putative association of a mutant ROM1 allele with retinitis pigmentosa" (1997) Martínez-Mir, A.;Vilela, C.;Bayés, M. (...)Vilaseliu, L. Human Genetics. 99(6):827-830
"Osmoresistance of spores from Bacillus subtilis and the effect of ssp mutations" (1994) Ruzal, S.M.; Alice, A.F.; Sanchez-Rivas, C. Microbiology. 140(8):2173-2177