Listado de Publicaciones Científicas del año 2022

List of Scientific Publications 2022

 

Carlos Eduardo Bernal Barquero, Mariano Martín, Romina Celeste Geysels, Victoria Peyret,
Patricia Papendieck, Ana María Masini-Repiso, Ana Elena Chiesa, Juan Pablo Nicola. An Intramolecular Ionic Interaction Linking Defective Sodium/Iodide Symporter Transport to the Plasma Membrane and Dyshormonogenic Congenital Hypothyroidism. THYROID Volume 32, Number 1, 2022.
https://doi.org/10.1089/thy.2021.0344

 

Carlos Eduardo Bernal Barquero, Romina Celeste Geysels, Virginie Jacques, Gerardo Hernán Carro,
Mariano Martín, Victoria Peyret, María Celeste Abregú, Patricia Papendieck, Ana María Masini-Repiso, Frédérique Savagner, Ana Elena Chiesa, Cintia E. Citterio, Juan Pablo Nicola. Targeted Next-Generation Sequencing of Congenital Hypothyroidism-Causative Genes Reveals Unexpected Thyroglobulin Gene Variants in Patients with Iodide Transport Defect. Int. J. Mol. Sci. 2022, 23, 9251.
https://doi.org/10.3390/ijms23169251

 

Maricel F. Molina, Patricia Papendieck, Gabriela Sobrero, Viviana A. Balbi, Fiorella S. Belforte,
Elena Bueno Martínez, Ezequiela Adrover, María C. Olcese, Ana Chiesa, Mirta B. Miras, Verónica G. González, Mauricio Gomes Pio, Rogelio González-Sarmiento, Héctor M. Targovnik, Carina M. Rivolta. Mutational screening of the TPO and DUOX2 genes in Argentinian children with congenital hypothyroidism due to thyroid dyshormonogenesis. Endocrine (2022) 77:86–101
https://doi.org/10.1007/s12020-022-03054-3

 

Avinaash Maharaj, Ruth Kwong, Jack Williams, Christopher Smith, Helen Storr, Ruth Krone, Debora Braslavsky, Maria Clemente, Nanik Ram, Indraneel Banerjee, Semra Çetinkaya, Federica Buonocore, Tülay Güran, John C Achermann, Louise Metherell, Rathi Prasad. A retrospective analysis of endocrine disease in sphingosine-1-phosphate lyase insufficiency: case series and literature review. Endocr Connect (2022) 11, e220250.
https://doi.org/10.1530/EC-22-0250

 

Nadia Y. Edelsztein, Clara Valeri, María M. Lovaisa, Helena F. Schteingart, Rodolfo A. Rey. AMH Regulation by Steroids in the Mammalian Testis: Underlying Mechanisms and Clinical Implications. Front. Endocrinol. 2022; 13:906381. doi: 10.3389/fendo.2022.906381
https://doi.org/10.3389/fendo.2022.906381

 

Raissa C. Rezende, Renata Maria Noronha, Ana Keselman, Elisangela P.S. Quedas, Naiara C.B. Dantas, Nathalia L.M. Andrade, Debora R. Bertola, Alexsandra C. Malaquias, Alexander A.L. Jorge. Delayed Puberty Phenotype Observed in Noonan Syndrome Is More Pronounced in Girls than Boys. Horm Res Paediatr 2022;95:51–61 DOI: 10.1159/000522670.
https://doi.org/10.1159/000522670

 

Sebastián Castro, Franco G. Brunello, Gabriela Sansó, Paula Scaglia, María Esnaola Azcoiti1, Agustín Izquierdo, Florencia Villegas, Ignacio Bergadá, María Gabriela Ropelato, Marcelo A. Martí, Rodolfo A. Rey y Romina P. Grinspon. Delayed Puberty Due to a WDR11 Truncation at Its N-Terminal Domain Leading to a Mild Form of Ciliopathy Presenting With Dissociated Central Hypogonadism: Case Report. Front Pediatr 03 June 2022 doi: 10.3389/fped.2022.887658.
https://doi.org/10.3389/fped.2022.887658

 

Marina C Muñoz , Verónica G Piazza , Valeria Burghi, Jorge F Giani , Carolina S Martinez , Nadia S Cicconi , Nadia V Muia , Yimin Fang , Sergio Lavandero, Ana I Sotelo , Andrzej Bartke, Patricia A Pennisi, Fernando P Dominici, Johanna G Miquet. Insulin signaling in the heart is directly and early impaired by growth hormone. J Mol Endocrinol . 2022 May 1;JME-21-0242. doi: 10.1530/JME-21-0242.
https://doi.org/10.1530/JME-21-0242

 

Rey RA. Next-Generation Sequencing as First-Line Diagnostic Testin Patients With Disorders of Sex Development? The Journal of Clinical Endocrinology & Metabolism, 2022, 107, e2628–e2629.
https://doi.org/10.1210/clinem/dgac133

 

Rey RA. Are We Prepared to Abandon the Idea of Sex Binarism? A Biomedical Perspective. Biomedicine Hub 2022;7:48–53
https://doi.org/10.1159/000522409

 

Rey RA. Genetics of reproductive endocrinology. Best Pract Res Clin Endocrinol Metab. 2022;36(1):101610
https://doi.org/10.1016/j.beem.2021.101610

 

Ayelen Martin, María Celia Fernandez, Elizabeth R Cattaneo, Claudio Schuster, Marcela Venara, Florencia Clément, Ariel Berenstein, Mercedes García Lombardi, Ignacio Bergadá, Mariana Gutierrez, Marcelo Adrian Marti, María R Gonzalez-Baro, Patricia Alejandra Pennisi. Type 1 Insulin-Like Growth Factor Receptor (IGF1R) Nuclear Localization in High-grade Glioma cells enhances Motility, Metabolism and in vivo Tumorigenesis. Front. Endocrinol., 27 April 2022.
https://doi.org/10.3389/fendo.2022.849279

 

Boguszewski MCS, Boguszewski CL, Chemaitilly W, Cohen LE, Gebauer J, Higham C, Hoffman AR, Polak M, Yuen KCJ, Alos N, Antal Z, Bidlingmaier M, Biller BMK, Brabant G, Choong CSY, Cianfarani S, Clayton PE, Coutant R, Cardoso-Demartini AA, Fernandez A, Grimberg A, Gudmundsson K, Guevara-Aquirre J, Ho KKY, Horikawa R, Isidori AM, Jorgensen JOL, Kamenicky P, Karavitaki N, Kopchick JJ, Lodish M, Luo XP, McCormack AI, Meacham L, Melmed S, Sogol Mostoufi-Moab S, Müller HL, Neggers SJCMM, Aguiar-Oliveira MH, Ozono K, Pennisi PA, Popovic V, Radovick S, Savendahl L, Touraine P, van Santen HM, Johannsson G. Safety of growth hormone replacement in survivors of cancer and intracranial and pituitary tumours: a consensus statement. Eur J Endocrinol. 2022 Mar 1:EJE-21-1186.
https://doi.org/doi: 10.1530/EJE-21-1186

 

Cecilia Mathó, Celia Fernández, Jenner Bonanata, Xian-De Liu, Ayelén Martin, Ana Vieites, Gabriela Sansó, Marta Barontini, Eric Jonasch, Elena Laura Coitiño and Patricia A. Pennisi. VHL-P138R and VHL-L163R novel variants: mechanisms of VHL pathogenicity involving HIF-dependent and HIF-independent actions. Front. Endocrinol. 13:854365.
https://doi.org/10.3389/fendo.2022.854365

 

F. Martin Ferolla, E. Walter Yfran, M. Gabriela Ballerini, Ana Caratozzolo, Analía Toledano, Ana C. Giordano, Patricio L. Acosta, Hamilton Cassinelli, Ignacio Bergada, M. Gabriela Ropelato, María M. Contrini, Eduardo L. López. Serum Vitamin D Levels and Life-Threatening Respiratory Syncytial Virus Infection in Previously Healthy Infants. The Journal of Infectious Diseases JID 2022:XX.
https://doi.org/10.1093/infdis/jiac033

 

Rodolfo A. Rey. Recent advancement in the treatment of boys and adolescents with hypogonadism Therapeutic Advances in Endocrinology and Metabolism. 2022, Vol. 13: 1–17.
⇒ https://doi.org/10.1177/20420188211065660

 

Tack LJW, van der Straaten, Riedl S, Springer A, Holterhus PM, Hornig NC, Kolesinska Z, Niedziela M, Baronio F, Balsamo A, Hannema SE, Nordenström A, Poyrazoglu S, Darendeliler FF, Grinspon R, Rey RA, Aljuraibah F, Bryce J, Ahmed F, Tadokoro-Cuccaro R, Hughes I, Guaragna-Filho G, Maciel-Guerra AT, Guerra-Junior G, Cools M. Growth, puberty and testicular function in boys born small for gestational age with a nonspecific disorder of sex development. Clin Endocrinol (Oxf). 2022; 96:165-174.
https://doi.org/10.1111/cen.14614.

 

Rey R, Grinspon RP. Diferenciación sexual: anomalíasIn: Levalle O, Calandra R, Eds. Andrología Molecular y Clínica: Interacciones. Buenos Aires: Editorial Ascune, 2022, pp. 139-166. ISBN 978-950-9124-93-6.

 

Grinspon RP, Rey R. Genética molecular en andrología pediátrica. In: Levalle O, Calandra R, Eds. Andrología Molecular y Clínica: Interacciones. Buenos Aires: Editorial Ascune, 2022, pp. 61-79. ISBN 978-950-9124-93-6.