Zobrazeno 1 - 10
of 150
pro vyhledávání: '"Laura Audí"'
Autor:
Chrysanthi Kouri, Grit Sommer, Idoia Martinez de Lapiscina, Rawda Naamneh Elzenaty, Lloyd J.W. Tack, Martine Cools, S. Faisal Ahmed, Christa E. Flück, Saygin Abali, Zehra Yavas Abali, Leyla Akin, Maricruz Almaraz, Laura Audí, Murat Aydin, Antonio Balsamo, Federico Baronio, Jillian Bryce, Kanetee Busiah, Maria Caimari, Núria Camats-Tarruella, Ariadna Campos-Martorell, Luis Castaño, Anna Casteràs, Semra Çetinkaya, Yee-Ming Chan, Hedi L. Claahsen-van der Grinten, Ines Costa, Fatma Feyza Darendeliler, Justin H. Davies, Isabel Esteva, Helena Fabbri-Scallet, Courtney A. Finlayson, Emilio Garcia, Beatriz Garcia Cuartero, Alina German, Evgenia Globa, Gil Guerra-Junior, Julio Guerrero, Tulay Guran, Sabine E. Hannema, Olaf Hiort, Josephine Hirsch, Leuan Hughes, Marco Janner, Zofia Kolesinska, Katherine Lachlan, Anna Lauber-Biason, Jana Krenek Malikova, Dagmar l'Allemand, Nina Lenhnerr-Taube, Angela Lucas-Herald, Jamala Mammadova, Kenneth MсElreavey, Veronica Mericq, Isabel Mönig, Francisca Moreno, Julia Mührer, Marek Niedziela, Anna Nordenstrom, Burçe Orman, Sukran Poyrazoglu, Jose M. Rial, Meilan M. Rutter, Amaia Rodríguez, Tara Schafer-Kalkhoff, Kay-Sara Sauter, Sumudu Nimali Seneviratne, Maria Sredkova-Ruskova, Rieko Tadokoro-Cuccaro, Ajay Thankamony, Mónica Tomé, Amaia Vela, Malgorzata Wasniewska, David Zangen, Nataliya Zelinska
Publikováno v:
EBioMedicine, Vol 99, Iss , Pp 104941- (2024)
Summary: Background: Steroidogenic factor 1 (SF-1/NR5A1) is essential for human sex development. Heterozygous NR5A1/SF-1 variants manifest with a broad range of phenotypes of differences of sex development (DSD), which remain unexplained. Methods: We
Externí odkaz:
https://doaj.org/article/85fc4633ac7a47e48fff5e498c208fd3
Autor:
Lukas Burget, Laura Audí Parera, Monica Fernandez-Cancio, Rolf Gräni, Christoph Henzen, Christa E Flück
Publikováno v:
Endocrinology, Diabetes & Metabolism Case Reports, Vol 1, Iss 1, Pp 1-4 (2018)
Steroidogenic acute regulatory protein (STAR) is a key protein for the intracellular transport of cholesterol to the mitochondrium in endocrine organs (e.g. adrenal gland, ovaries, testes) and essential for the synthesis of all steroid hormones. Seve
Externí odkaz:
https://doaj.org/article/8385655384f6433a8b17f6dfb8f175f9
Autor:
Christa E. Flück, Laura Audí, Mónica Fernández-Cancio, Kay-Sara Sauter, Idoia Martinez de LaPiscina, Luis Castaño, Isabel Esteva, Núria Camats
Publikováno v:
Frontiers in Genetics, Vol 10 (2019)
Disorders/differences of sex development (DSD) are the result of a discordance between chromosomal, gonadal, and genital sex. DSD may be due to mutations in any of the genes involved in sex determination and development in general, as well as gonadal
Externí odkaz:
https://doaj.org/article/8696069d5da943bb8f8872fc57904667
Publikováno v:
International Journal of Molecular Sciences, Vol 21, Iss 23, p 9146 (2020)
Disorders (or differences) of sex development (DSD) are congenital conditions characterized by atypical development of genetic, gonadal or phenotypic sex [...]
Externí odkaz:
https://doaj.org/article/cbae2b9a4030464a88384e4621d6f2e5
Publikováno v:
International Journal of Molecular Sciences, Vol 21, Iss 5, p 1809 (2020)
Sex development is a very complex biological event that requires the concerted collaboration of a large network of genes in a spatial and temporal correct fashion. In the past, much has been learned about human sex development from monogenic disorder
Externí odkaz:
https://doaj.org/article/5f2df947d89145499dcd17439872022f
Autor:
Julio Guerrero-Fernández, Cristina Azcona San Julián, Jesús Barreiro Conde, José Antonio Bermúdez de la Vega, Atilano Carcavilla Urquí, Luis Antonio Castaño González, José María Martos Tello, Amaya Rodríguez Estévez, Diego Yeste Fernández, Leopoldo Martínez Martínez, María José Martínez-Urrutia, Cristina Mora Palma, Laura Audí Parera
Publikováno v:
Anales de Pediatría, Vol 89, Iss 5, Pp 315.e1-315.e19 (2018)
Resumen: Las anomalías de la diferenciación sexual (ADS) engloban un amplio espectro de discordancias entre los criterios cromosómico, gonadal y fenotípico (genital) que definen la diferenciación sexual; actualmente, se aboga por la denominació
Externí odkaz:
https://doaj.org/article/2346869bef1446dd802fbb7b0a7021d7
Autor:
Julio Guerrero-Fernández, Cristina Azcona San Julián, Jesús Barreiro Conde, José Antonio Bermúdez de la Vega, Atilano Carcavilla Urquí, Luis Antonio Castaño González, José María Martos Tello, Amaya Rodríguez Estévez, Diego Yeste Fernández, Leopoldo Martínez Martínez, María José Martínez-Urrutia, Cristina Mora Palma, Laura Audí Parera
Publikováno v:
Anales de Pediatría (English Edition), Vol 89, Iss 5, Pp 315.e1-315.e19 (2018)
Disorders of sex development (DSD) include a wide range of anomalies among the chromosomal, gonadal, and phenotypic (genital) characteristics that define sexual differentiation. At present, a definition as Different sexual development (DSD) is curren
Externí odkaz:
https://doaj.org/article/f368ac114b2641eab1d3904ad89d68ec
Autor:
Mónica Fernández-Cancio, Núria Camats, Christa E. Flück, Adam Zalewski, Bernhard Dick, Brigitte M. Frey, Raquel Monné, Núria Torán, Laura Audí, Amit V. Pandey
Publikováno v:
Pharmaceuticals, Vol 11, Iss 2, p 37 (2018)
The CYP17A1 gene regulates sex steroid biosynthesis in humans through 17α-hydroxylase/17,20 lyase activities and is a target of anti-prostate cancer drug abiraterone. In a 46, XY patient with female external genitalia, together with a loss of functi
Externí odkaz:
https://doaj.org/article/c0d4e4e00e3048ad96e3cfd1140a9a06
Autor:
Núria Camats, Mónica Fernández-Cancio, Laura Audí, Primus E Mullis, Francisca Moreno, Isabel González Casado, Juan Pedro López-Siguero, Raquel Corripio, José Antonio Bermúdez de la Vega, José Antonio Blanco, Christa E Flück
Publikováno v:
PLoS ONE, Vol 10, Iss 11, p e0142831 (2015)
MAMLD1 is thought to cause disordered sex development in 46,XY patients. But its role is controversial because some MAMLD1 variants are also detected in normal individuals, several MAMLD1 mutations have wild-type activity in functional tests, and the
Externí odkaz:
https://doaj.org/article/83e5670bec4f4679bf1074b46ee36744
Autor:
Jana Malikova, Núria Camats, Mónica Fernández-Cancio, Karen Heath, Isabel González, María Caimarí, Miguel del Campo, Marian Albisu, Stanislava Kolouskova, Laura Audí, Christa E Flück
Publikováno v:
PLoS ONE, Vol 9, Iss 8, p e104838 (2014)
Human NR5A1/SF-1 mutations cause 46,XY disorder of sex development (DSD) with broad phenotypic variability, and rarely cause adrenal insufficiency although SF-1 is an important transcription factor for many genes involved in steroidogenesis. In addit
Externí odkaz:
https://doaj.org/article/ed8db0b77dc64bc6ba506d50bb9995e1