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Resultats globals: 4 registres trobats en 0.01 segons.
Articles, 4 registres trobats
Articles 4 registres trobats  
1.
9 p, 459.3 KB Human NR5A1 /SF-1 Mutations Show Decreased Activity on BDNF (Brain-Derived Neurotrophic Factor), an Important Regulator of Energy Balance : Testing Impact of Novel SF-1 Mutations Beyond Steroidogenesis / Malikova, Jana (P University Children's Hospital Bern) ; Camats Tarruella, Núria (University Children's Hospital Bern (Suïssa)) ; Fernández Cancio, Mónica (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Heath, Karen E (Instituto de Investigación Sanitaria del Hospital Universitario La Paz) ; González, Isabel (Instituto de Investigación Sanitaria del Hospital Universitario La Paz) ; Caimarí, María (Hospital Universitari Son Espases (Palma de Mallorca, Balears)) ; del Campo Casanelles, Miguel (Hospital Universitari Vall d'Hebron) ; Albisu, Marian (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Kolouskova, Stanislava (University Hospital Motol, Prague) ; Audí, Laura (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Flück, Christa E. (University Children's Hospital Bern (Suïssa)) ; Universitat Autònoma de Barcelona
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. [...]
2014 - 10.1371/journal.pone.0104838
PloS one, Vol. 9 (august 2014)  
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2.
24 p, 5.6 MB Mechanism of the Dual Activities of Human CYP17A1 and Binding to Anti-Prostate Cancer Drug Abiraterone Revealed by a Novel V366M Mutation Causing 17,20 Lyase Deficiency / Fernández Cancio, Mónica (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Camats Tarruella, Núria (University of Bern) ; Flück, Christa E. (University of Bern) ; Zalewski, Adam (University of Bern) ; Dick, Bernhard (Department of Nephrology and Hypertension) ; Frey, Brigitte M. (University of Bern) ; Monné, Raquel (Hospital Universitari Joan XXIII de Tarragona) ; Torán, Núria (Hospital Universitari Vall d'Hebron) ; Audí, Laura (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Pandey, Amit V. (University of Bern) ; Universitat Autònoma de Barcelona
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 function mutation S441P, we identified a novel missense mutation V366M at the catalytic center of CYP17A1 which preferentially impaired 17,20 lyase activity. [...]
2018 - 10.3390/ph11020037
Pharmaceuticals, Vol. 11 (april 2018)  
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3.
17 p, 1.4 MB Broad Phenotypes of Disorders/Differences of Sex Development in MAMLD1 Patients Through Oligogenic Disease / Flück, Christa E. (Bern University Hospital) ; Audí, Laura (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Fernández Cancio, Mónica (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Sauter, Kay-Sara (Bern University Hospital) ; Martinez de LaPiscina, Idoia (Hospital Universitario de Cruces (Barakaldo, País Basc)) ; Castaño, Luis (Hospital Universitario de Cruces (Barakaldo, País Basc)) ; Esteva, Isabel (Hospital Regional Universitario de Málaga) ; Camats Tarruella, Núria (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Universitat Autònoma de Barcelona
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 and/or genital development specifically. [...]
2019 - 10.3389/fgene.2019.00746
Frontiers in genetics, Vol. 10 (29 2019) , p. 746  
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4.
20 p, 1.1 MB Human MAMLD1 Gene Variations Seem Not Sufficient to Explain a 46,XY DSD Phenotype / Camats Tarruella, Núria (University Children's Hospital Bern (Suïssa)) ; Fernández Cancio, Mónica (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Audí, Laura (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Mullis, Primus E. (University Children's Hospital Bern (Suïssa)) ; Moreno, Francisca (Hospital Universitari i Politècnic La Fe (València)) ; González Casado, Isabel (Hospital Universitario La Paz (Madrid)) ; López-Siguero, Juan Pedro (Hospital Regional Universitario de Málaga) ; Corripio, Raquel (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ; Bermúdez de la Vega, José Antonio (Hospital Universitario Virgen Macarena (Sevilla, Andalusia)) ; Blanco, José Antonio (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Flück, Christa E. (University Children's Hospital Bern (Suïssa)) ; Universitat Autònoma de Barcelona
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 male Mamld1-knockout mouse has normal genitalia and reproduction. [...]
2015 - 10.1371/journal.pone.0142831
PloS one, Vol. 10 Núm. 11 (november 2015)  
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