Congenital Adrenal Hyperplasia and Ehlers-Danlos Syndrome

Autor: Roxana Marino, Angélica Moresco, Natalia Perez Garrido, Pablo Ramirez, Alicia Belgorosky

Publikováno v: Frontiers in Endocrinology, Vol 13 (2022)

Congenital adrenal hyperplasia (CAH) secondary to 21-hydroxylase deficiency is an autosomal recessive disorder. The 21-hydroxylase enzyme P450c21 is encoded by the CYP21A2 gene located on chromosome 6p21.33 within the HLA major histocompatibility com

Externí odkaz: https://doaj.org/article/ff007f6fa8e74578a6ed33d23e2ade32

A Surgical and Clinical Approach to Persistent Müllerian Duct Syndrome: Laparoscopic, Histological, and Molecular Findings

Autor: María Celeste Mattone, María Victoria Lobo de la Vega, Emiro J. Redondo, Pablo D’Alessandro, Natalia Perez Garrido, María Laura Galluzzo, Mariana Costanzo, Verónica Zaidman, Juan Manuel Lazzati, Esperanza Berensztein, Pablo Ramirez, Roxana Marino, Alicia Belgorosky, Marta Ciaccio, Marcela Bailez, Gabriela Guercio

Publikováno v: Sexual Development. :1-7

Background: Persistent müllerian duct syndrome (PMDS) is characterized by the persistence of müllerian duct derivatives in otherwise normally virilized 46,XY males. Biallelic mutations of the anti-müllerian hormone (AMH) and AMH receptor type 2 (A

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::45fd128f16081a2b7025a7a69adf4b18
https://doi.org/10.1159/000526992

Ehlers–Danlos Syndrome: Molecular and Clinical Characterization of TNXA/TNXB Chimeras in Congenital Adrenal Hyperplasia

Autor: Roxana Marino, Guillermo Notaristefano, Natalia Perez Garrido, Viviana Balbi, Alicia Belgorosky, Angélica Moresco, Maria Gabriela Obregon, Ianina Soria, Pablo Ramírez, Elisa Vaiani, Maria Sol Touzon, Gabriela Finkielstain

Publikováno v: The Journal of Clinical Endocrinology & Metabolism. 106:e2789-e2802

Context The syndrome CAH-X is due to a contiguous gene deletion of CYP21A2 and TNXB resulting in TNXA/TNXB chimeras. Objective To analyze TNXB gene status and to clinically evaluate the Ehlers–Danlos syndrome phenotype in a large cohort of Argentin

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::8822f37bba4748c40a0c52fb0f6260ff
https://doi.org/10.1210/clinem/dgab033

Testis formation in XX individuals resulting from novel pathogenic variants in Wilms’ tumor 1 ( WT1 ) gene

Autor: Masomeh Askari, Svetlana A. Yatsenko, Robin Lovell-Badge, Tiphanie Merel-Chali, Balázs Gellén, Nitzan Gonen, Leila Fusee, Rana Mainpal, Mariana Costanzo, Inas Mazen, Anu Bashamboo, Anahita Mohseni Meybodi, Esperanza Berensztein, Joelle Bignon-Topalovic, Caroline Eozenou, Natalia Perez Garrido, Alicia Belgorosky, Andrea J. Berman, Roberta Migale, Ken McElreavey, Rita Bertalan, Alaa K. Kamel, Mona K. Mekkawy, Maria Sol Touzon, Priti Singh, Pablo Ramirez, Gabriela Guercio, Aleksandar Rajkovic, Mehdi Totonchi, Selma F. Witchel, Roxana Marino, John C. Schimenti, Anne Jørgensen

Publikováno v: Proceedings of the National Academy of Sciences of the United States of America
Proceedings of the National Academy of Sciences of the United States of America, National Academy of Sciences, 2020, 117 (24), pp.13680-13688. ⟨10.1073/pnas.1921676117⟩
Proceedings of the National Academy of Sciences of the United States of America, 2020, 117 (24), pp.13680-13688. ⟨10.1073/pnas.1921676117⟩

International audience; Sex determination in mammals is governed by antagonistic interactions of two genetic pathways, imbalance in which may lead to disorders/differences of sex development (DSD) in human. Among 46,XX individuals with testicular DSD

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4f28b185a9a5aeb46bd22dbfa6cc25dd
https://doi.org/10.1073/pnas.1921676117

Growth hormone receptor gene polymorphism. Spontaneous catch up growth in small for gestational age patients

Autor: Natalia, Perez Garrido, Matías, Pujana, Malena, Berger, Pablo, Ramírez, Gabriela, Guercio, Alicia, Belgorosky, Roxana, Marino

Publikováno v: Medicina. 81(4)

The growth hormone receptor (GHR) mediates the effect of growth hormone (GH) on linear growth and metabolism. In humans, it exists as two isoforms differing by the retention or exclusion of exon 3; a full-length GHR isoform (GHRfl) and the exon 3-del

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::61fe6a4c05844a4d98c5f98c4be6a3b0
https://pubmed.ncbi.nlm.nih.gov/34453799