Výsledky vyhledávání - "Carolina, Minutolo"

Akademický článek

Structure-based analysis of five novel disease-causing mutations in 21-hydroxylase-deficient patients.

Autor: Carolina Minutolo, Alejandro D Nadra, Cecilia Fernández, Melisa Taboas, Noemí Buzzalino, Bárbara Casali, Susana Belli, Eduardo H Charreau, Liliana Alba, Liliana Dain

Publikováno v: PLoS ONE, Vol 6, Iss 1, p e15899 (2011)

Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is the most frequent inborn error of metabolism, and accounts for 90-95% of CAH cases. The affected enzyme, P450C21, is encoded by the CYP21A2 gene, located together with a 98% nuc

Externí odkaz: https://doaj.org/article/0b3ff7a736854c4088db0fd43b6b4937

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Species delimitation in the Andean grasshopper genusOrotettix Ronderos & Carbonell (Orthoptera: Melanoplinae): an integrative approach combining morphological, molecular and biogeographical data

Autor: María Marta Cigliano, Carolina Minutolo, Viviana A. Confalonieri, Carlos E. Lange, Martina Eugenia Pocco, Pablo Adrián Dinghi

Publikováno v: Zoological Journal of the Linnean Society. 174:733-759

The reciprocal illumination nature of integrative taxonomy through hypothesis testing, corroboration and revision is a powerful tool for species delimitation as more than one source has to support the hypothesis of a new species. In this study, we ap

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::a09449c8ec7e4176ddfcaed27c9db2f4
https://doi.org/10.1111/zoj.12251

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Congenital adrenal hyperplasia: Clinical characteristics and genotype in newborn, childhood and adolescence Hiperplasia suprarrenal congénita: Características clínicas, seguimiento y genotipo en la etapa perinatal, la niñez y la adolescencia

Autor: Titania Pasqualini, Guillermo Alonso, Rosángela Tomasini, Ana María Galich, Noemí Buzzalino, Cecilia Fernández, Carolina Minutolo, Liliana Alba, Liliana Dain

Publikováno v: Medicina (Buenos Aires), Vol 67, Iss 3, Pp 253-261 (2007)

Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is a disorder which can adopt three clinical expressions: two classical forms -salt-wasting (SW), with residual enzymatic activity (EA) < 1% and simple virilizing (SV), with EA 1-2

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doajarticles::c1b2fdb1ec806513af4717238c34730c
http://www.scielo.org.ar/scielo.php?script=sci_arttext&pid=S0025-76802007000300006

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Classical and nonclassical 21-hydroxylase deficiency: a molecular study of Argentine patients

Autor: Liliana Dain, Titania Pasqualini, Eduardo H. Charreau, Adriana Oneto, Liliana Alba, Susana Belli, Carolina Minutolo, Noemí Buzzalino, Mirta Stivel

Publikováno v: Clinical Endocrinology. 56:239-245

ummary objective To characterize the molecular basis of the 21-hydroxylase deficiency in a group of Argentine patients presenting the classical and nonclassical forms of the disease. DESIGN To analyse the frequency of point mutations in the CYP21 gen

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::d05d7a059fca271c755d9bfca56faf8e
https://doi.org/10.1046/j.0300-0664.2001.01419.x

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Porphyria-induced hepatic porphyrinogen carboxy-lyase inhibitor and its interaction with the active site(s) of the enzyme

Autor: Carmen Aldonatti, S.C Billi de Catabbi, R. Wainstok de Cahmanovici, Carolina Minutolo, L.C. San Martín de Viale

Publikováno v: IUBMB Life. 47:945-956

Porphyrinogen carboxy-lyase is an enzyme that sequentially decarboxylates uroporphyrinogen III (8-COOH) to yield coproporphyrinogen III (4-COOH). In mammals this enzyme activity is impaired by hexachlorobenzene treatment, through generation of an enz

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::639801eca549b8c6eb565f70818e442d
https://doi.org/10.1080/15216549900202063

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Time course of hexachlorobenzene-induced alterations of lipid metabolism and their relation to porphyria

Autor: Norma B. Sterin-Speziale, Carolina Minutolo, Leonor C. San Martín de Viale, María Celia Fernández, Silvia Cristina Billi de Catabbi, Carmen Aldonatti

Publikováno v: The International Journal of Biochemistry & Cell Biology. 29:335-344

A great deal of information concerning the effects of hexachlorobenzene on the haem metabolic pathway has been obtained but little is known about the effects of the drug on lipid metabolism. Consequently, the time course of phospholipid metabolism al

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d91bb0a41c64d8fdace567ab25e6eab2
https://doi.org/10.1016/s1357-2725(96)00096-9

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Structure-Based Analysis of Five Novel Disease-Causing Mutations in 21-Hydroxylase-Deficient Patients

Autor: Eduardo H. Charreau, Carolina Minutolo, Alejandro D. Nadra, Noemí Buzzalino, Cecilia Fernández, Liliana Alba, Bárbara Casali, Liliana Dain, Melisa Taboas, Susana Belli

Publikováno v: PLoS ONE
PloS One, 2011, 6(1), e15899.
Sistema de Gestión del Conocimiento ANLIS MALBRÁN
Administración Nacional de Laboratorios e Institutos de Salud "Dr. Carlos G. Malbrán"
instacron:ANLIS
PLoS ONE, Vol 6, Iss 1, p e15899 (2011)
PLoS ONE 2011;6(1)
Biblioteca Digital (UBA-FCEN)
Universidad Nacional de Buenos Aires. Facultad de Ciencias Exactas y Naturales
instacron:UBA-FCEN

Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is the most frequent inborn error of metabolism, and accounts for 90–95% of CAH cases. The affected enzyme, P450C21, is encoded by the CYP21A2 gene, located together with a 98% n

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b1ca685cc72c9d0be2f700032dbaec37
https://doi.org/10.1371/journal.pone.0015899

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