Search Results - "Karabatas, Liliana M."

Characterization of four Latin American families confirms previous findings and reveals novel features of acid‐labile subunit deficiency by Scaglia, Paula A., Keselman, Ana C., Braslavsky, Débora, Martucci, Lucía C., Karabatas, Liliana M., Domené, Sabina, Gutiérrez, Mariana L., Ballerini, María G., Ropelato, María G., Spinola‐Castro, Angela, Siviero‐Miachon, Adriana A., Tartuci, Juliana Saito, Rodríguez Azrak, María Sol, Rey, Rodolfo A., Jasper, Héctor G., Bergadá, Ignacio, Domené, Horacio M.

“…Summary Objective Acid‐labile subunit deficiency (ACLSD), caused by inactivating mutations in both IGFALS gene alleles, is characterized by marked reduction in…”
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Heterozygous IGFALS gene variants in idiopathic short stature and normal children: impact on height and the IGF system by Domené, Horacio M, Scaglia, Paula A, Martínez, Alicia S, Keselman, Ana C, Karabatas, Liliana M, Pipman, Viviana R, Bengolea, Sonia V, Guida, María C, Ropelato, María G, Ballerini, María G, Lescano, Eva M, Blanco, Miguel A, Heinrich, Juan J, Rey, Rodolfo A, Jasper, Héctor G

“…In acid-labile subunit (ALS)-deficient families, heterozygous carriers of IGFALS gene mutations are frequently shorter than their wild-type relatives,…”
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Early manifestations in multiple-low-dose streptozotocin-induced diabetes in mice by Karabatas, Liliana M, Pastorale, Claudia, de Bruno, Lidia Fabiano, Maschi, Fabricio, Pivetta, Omar H, Lombardo, Yolanda B, Chemes, Héctor, Basabe, Juan C

“…Administration of multiple low doses of streptozotocin (mld-SZ) to mice results in the development of autoimmune diabetes. Hyperglycemia does not develop until…”
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Assessment of pathogenicity of natural IGFALS gene variants by in silico bioinformatics tools and in vitro functional studies by Martucci, Lucía C., Gutiérrez, Mariana L., Karabatas, Liliana M., Scaglia, Paula A., Rey, Rodolfo A., Domené, Horacio M., Jasper, Héctor G., Domené, Sabina

“…Acid-labile subunit (ALS) is essential for stabilization of IGF-I and IGFBP-3 in ternary complexes within the vascular system. ALS deficient (ALS-D) patients…”
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