Androgen receptor dysfunction as a prevalent manifestation in young male carriers of a FLNA gene mutation

Autor: Maximiliano Francisco Rivas-Crespo, María Soledad Fernández García, Laura Carrera-García

Publikováno v: American journal of medical genetics. Part A. 173(6)

Androgenic actions require the proper signal transmission by the androgen receptor (AR), a nuclear transcription factor. This is initially located in the cell cytoplasm and should translocates to the nucleus to interact with DNA. AR functional impair

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3db3d51f7a62e3ac7eea341b986a0abc
https://pubmed.ncbi.nlm.nih.gov/28432720

List of Contributors

Autor: Nancy Alarie, H.G.M. Arets, Fiona S. Atkinson, Ben W.R. Balzer, Raquel Barrio, Grzegorz Bartosz, Kacie Beckett, Kirstine J. Bell, Francesca Berlutti, S. Van Biervliet, Frank A.J.A. Bodewes, B.C. Bongers, Aaron Robert Brussels, Mandy Bryon, Carol Byrd-Bredbenner, Amy Cantrell, Angela Catizone, Heather Chambliss, Oana Ciofu, M. Francisco Rivas Crespo, Isabelle de Monestrol, Dimitri Declercq, Ieda Regina L. Del Ciampo, Robin S. Everhart, Barbara H. Fiese, Mary Shannon Fracchia, Alessandra Frioni, Manyan Fung, Sabina Galiniak, Carlos Bousoño García, Shihab Hameed, Amber J. Hammons, Helge Hebestreit, Wendy Anne Hermes, M. Höltershinken, H.J. Hulzebos, Vanitha Jagannath, David Gonzalez Jiménez, J. Kamphues, Andrea Kench, Lisa Kent, Ronald E. Kleinman, Stan Kubow, Larry C. Lands, Amanda Leonard, Amy Lowichik, G. Mailhot, María Martín-Frías, Megan Elizabeth McGuckin, Suzanne H. Michel, Alison Morton, A. Mößeler, Donna H. Mueller, Noor Naqvi, Matthew Nippins, Michael O’Connor, Holly M. Offenberger, Gaurav Paul, John F. Pohl, Virginia Quick, Gilbert L. Rivera Jr., Eddy Robberecht, Izabela Sadowska-Bartosz, Donatello Salvatore, Meghana Sathe, T. Schwarzmaier, Adam Seegmiller, Hiran Selvadurai, Tzippora Shalem, Karyn Shaw, Vijay Karam Singh, Jennifer Stark, Russell Stark, Katharine S. Steinbeck, B. Strandvik, T. Takken, Vin Tangpricha, Lidia Alice G.M.M. Torres, Piera Valenti, Charles F. Verge, Henkjan J. Verkade, Ronald Ross Watson, Batia Weiss, M.S. Werkman, Sue Wolfe, Marjan Wouthuyzen-Bakker

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::fe250e4a2c5c2596b6720eca5b0fcb69
https://doi.org/10.1016/b978-0-12-800051-9.01002-6

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Clinical and molecular characterization of five Spanish kindreds with X-linked adrenal hypoplasia congenita: atypical findings and a novel mutation in NR0B1

Autor: Gema Grau, Luis Castaño, Francisco Rivas-Crespo, Gustavo Pérez-Nanclares, Joaquin Fernández-Toral, Ignacio Diez, Amaia Rodríguez Estévez, Juan Pedro López-Siguero

Publikováno v: Journal of pediatric endocrinologymetabolism : JPEM. 28(9-10)

BACKGROUND X-linked adrenal hypoplasia congenita (AHC) is caused by NR0B1 (DAX1) gene mutations. Affected male children suffer from adrenal insufficiency, leading to a salt-wasting crisis in early infancy and hypogonadotropic hypogonadism in adulthoo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1a6e39477adf0c1c16b606c7d339bce9
https://pubmed.ncbi.nlm.nih.gov/26030781

Comment on Boyko and Jensen. Do We Know What Homeostatis Model Assessment Measures? If Not, Does It Matter? Diabetes Care 2007;30:2725–2728

Autor: M. Francisco Rivas-Crespo

Publikováno v: Diabetes Care. 38:e213-e213

When Boyko and Jensen (1) published their thoughts on the characteristics of HOMA of insulin resistance (HOMA-IR) (2), they resorted to comparing it with QUICKI (3). They searched for a mathematical relationship between these surrogate indices of ins

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd5c8bf41561ffb4ecb557fbc3baca50
https://doi.org/10.2337/dc15-1172