Search Results - "Espeche, Lucía D"

CYP21A2 mutation update: Comprehensive analysis of databases and published genetic variants by Simonetti, Leandro, Bruque, Carlos D., Fernández, Cecilia S., Benavides‐Mori, Belén, Delea, Marisol, Kolomenski, Jorge E., Espeche, Lucía D., Buzzalino, Noemí D., Nadra, Alejandro D., Dain, Liliana

“…Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders of adrenal steroidogenesis. Disorders in steroid 21‐hydroxylation account for…”
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Conformational stability, dynamics and function of human frataxin: Tryptophan side chain interplay by Espeche, Lucía D., Sewell, Karl Ellioth, Castro, Ignacio H., Capece, Luciana, Pignataro, María Florencia, Dain, Liliana, Santos, Javier

“…In humans, the loss of frataxin results in Friedreich's Ataxia, a neurodegenerative disease, in which a deficit in the iron–sulfur cluster assembly is…”
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An update on genetic variants of the NKX2‐5 by Kolomenski, Jorge E., Delea, Marisol, Simonetti, Leandro, Fabbro, Mónica C., Espeche, Lucía D., Taboas, Melisa, Nadra, Alejandro D., Bruque, Carlos D., Dain, Liliana

“…NKX2‐5 is a homeodomain transcription factor that plays a crucial role in heart development. It is the first gene where a single genetic variant (GV) was found…”
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Genetic characterization of a large cohort of Argentine 21‐hydroxylase Deficiency by Fernández, Cecilia S., Taboas, Melisa, Bruque, Carlos D., Benavides‐Mori, Belén, Belli, Susana, Stivel, Mirta, Oneto, Adriana, Pasqualini, Titania, Delea, Marisol, Espeche, Lucía D., Kolomenski, Jorge E., Alba, Liliana, Buzzalino, Noemí, Dain, Liliana

“…Context 21‐hydroxylase deficiency is the most common cause of Congenital Adrenal Hyperplasia. It presents as severe or classical forms—salt wasting and simple…”
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Structure-based activity prediction of CYP21A2 stability variants: A survey of available gene variations by Bruque, Carlos D., Delea, Marisol, Fernández, Cecilia S., Orza, Juan V., Taboas, Melisa, Buzzalino, Noemí, Espeche, Lucía D., Solari, Andrea, Luccerini, Verónica, Alba, Liliana, Nadra, Alejandro D., Dain, Liliana

“…Congenital adrenal hyperplasia due to 21-hydroxylase deficiency accounts for 90–95% of CAH cases. In this work we performed an extensive survey of mutations…”
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Genetic Imbalances in Argentinean Patients with Congenital Conotruncal Heart Defects by Delea, Marisol, Espeche, Lucía D, Bruque, Carlos D, Bidondo, María Paz, Massara, Lucía S, Oliveri, Jaen, Brun, Paloma, Cosentino, Viviana R, Martinoli, Celeste, Tolaba, Norma, Picon, Claudina, Ponce Zaldua, María Eugenia, Ávila, Silvia, Gutnisky, Viviana, Perez, Myriam, Furforo, Lilian, Buzzalino, Noemí D, Liascovich, Rosa, Groisman, Boris, Rittler, Mónica, Rozental, Sandra, Barbero, Pablo, Dain, Liliana

“…Congenital conotruncal heart defects (CCHD) are a subset of serious congenital heart defects (CHD) of the cardiac outflow tracts or great arteries. Its…”
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Genetic Analysis Algorithm for the Study of Patients with Multiple Congenital Anomalies and Isolated Congenital Heart Disease by Delea, Marisol, Massara, Lucia S, Espeche, Lucia D, Bidondo, María Paz, Barbero, Pablo, Oliveri, Jaen, Brun, Paloma, Fabro, Mónica, Galain, Micaela, Fernández, Cecilia S, Taboas, Melisa, Bruque, Carlos D, Kolomenski, Jorge E, Izquierdo, Agustín, Berenstein, Ariel, Cosentino, Viviana, Martinoli, Celeste, Vilas, Mariana, Rittler, Mónica, Mendez, Rodrigo, Furforo, Lilian, Liascovich, Rosa, Groisman, Boris, Rozental, Sandra, Dain, Liliana, On Behalf Of The Pid Acm-Cc Group

“…Congenital anomalies (CA) affect 3-5% of newborns, representing the second-leading cause of infant mortality in Argentina. Multiple congenital anomalies (MCA)…”
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Misregulation effect of a novel allelic variant in the Z promoter region found in cis with the CYP21A2 p.P482S mutation: implications for 21-hydroxylase deficiency by Fernández, Cecilia S., Bruque, Carlos D., Taboas, Melisa, Buzzalino, Noemí D., Espeche, Lucia D., Pasqualini, Titania, Charreau, Eduardo H., Alba, Liliana G., Ghiringhelli, Pablo D., Dain, Liliana

“…The aim of the current study was to search for the presence of genetic variants in the CYP21A2 Z promoter regulatory region in patients with congenital adrenal…”
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