Results overview: Found 8 records in 0.02 seconds.
Articles, 8 records found
Articles 8 records found  
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)  
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)  
3.
12 p, 3.3 MB A Genome-Wide Pharmacogenetic Study of Growth Hormone Responsiveness / Dauber, Andrew (Division of Endocrinology, Children's National Hospital) ; Meng, Yan (Broad Institute of MIT and Harvard) ; Audí, Laura (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Vedantam, Sailaja (Broad Institute of MIT and Harvard) ; Weaver, Benjamin (Broad Institute of MIT and Harvard) ; Carrascosa Lezcano, Antonio 1949- (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Albertsson-Wikland, Kerstin (Department of Physiology/Endocrinology, Institute of Neuroscience and Physiology, Sahlgrenska Academy, University of Gothenburg) ; Ranke, Michael B. (University Children's Hospital, Paediatric Endocrinology) ; Jorge, Alexander A. L. (Unidade de Endocrinologia do Desenvolvimento (LIM42), Hospital das Clinicas da Faculdade de Medicina da Universidade de Sao Paulo) ; Cara, Jose (Pfizer Inc, Rare Disease) ; Wajnrajch, Michael P. (Pfizer Inc, Rare Disease) ; Lindberg, Anders (Pfizer Inc, Data Management) ; Camacho-Hübner, Cecilia (Pfizer Inc, Rare Disease) ; Hirschhorn, Joel N. (Broad Institute of MIT and Harvard) ; Universitat Autònoma de Barcelona
Individual patients vary in their response to growth hormone (GH). No large-scale genome-wide studies have looked for genetic predictors of GH responsiveness. To identify genetic variants associated with GH responsiveness. [...]
2020 - 10.1210/clinem/dgaa443
The journal of clinical endocrinology & metabolism, Vol. 105 (july 2020) , p. 3203-3214  
4.
2 p, 125.6 KB Response to Letter to the Editor : "A Genome-Wide Pharmacogenetic Study of Growth Hormone Responsiveness" / Hirschhorn, Joel N. (Broad Institute of MIT and Harvard) ; Dauber, Andrew (Division of Endocrinology, Children's National Hospital) ; Audí, Laura (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Vedantam, Sailaja (Broad Institute of MIT and Harvard) ; Ranke, Michael B. (University Children's Hospital, Paediatric Endocrinology) ; Jorge, Alexander A. L. (Unidade de Endocrinologia do Desenvolvimento (LIM42), Hospital das Clinicas da Faculdade de Medicina da Universidade de Sao Paulo) ; Lindberg, Anders (Pfizer, Data Management) ; Camacho-Hübner, Cecilia (Pfizer Inc, Rare Disease) ; Wajnrajch, Michael P. (Pfizer Inc, Rare Disease) ; Universitat Autònoma de Barcelona
2020 - 10.1210/clinem/dgaa735
The journal of clinical endocrinology & metabolism, Vol. 106 (november 2020) , p. e409-e410  
5.
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  
6.
16 p, 1.3 MB Latitudinal Clines of the Human Vitamin D Receptor and Skin Color Genes / Tiosano, Dov (Technion - Israel Institute of Technology. Rappaport Family Faculty of Medicine) ; Audí, Laura (Hospital Universitari Vall d'Hebron) ; Climer, Sharlee (Department of Computer Science and Engineering, Washington University) ; Zhang, Weixiong (Department of Computer Science and Engineering) ; Templeton, Alan R. (Department of Evolutionary and Environmental Biology, University of Haifa) ; Fernández Cancio, Mónica (Hospital Universitari Vall d'Hebron) ; Gershoni-Baruch, Ruth (Department of Evolutionary and Environmental Biology, University of Haifa) ; Sánchez-Muro, José Miguel (Pediatric Service, Area Basica de Salut (ABS)) ; El Kholy, Mohamed (Department of Pediatrics, Ain Shams University) ; Hochberg, Zèev (Technion - Israel Institute of Technology. Rappaport Family Faculty of Medicine) ; Universitat Autònoma de Barcelona
The well-documented latitudinal clines of genes affecting human skin color presumably arise from the need for protection from intense ultraviolet radiation (UVR) vs. the need to use UVR for vitamin D synthesis. [...]
2016 - 10.1534/g3.115.026773
G3, Vol. 6 (february 2016) , p. 1251-1266  
7.
11 p, 1.7 MB Human growth hormone (GH1) gene polymorphism map in a normal-statured adult population / Esteban, Cristina (Hospital Universitari Vall d'Hebron) ; Audí, Laura (Hospital Universitari Vall d'Hebron) ; Carrascosa Lezcano, Antonio 1949- (Hospital Universitari Vall d'Hebron) ; Fernández Cancio, Mónica (Hospital Universitari Vall d'Hebron) ; Pérez-Arroyo, Annalisa (Hospital Universitari Vall d'Hebron) ; Ulied, Angels (Hospital Universitari Vall d'Hebron) ; Andaluz, Pilar (Hospital Universitari Vall d'Hebron) ; Arjona, Rosa (Hospital Universitari Vall d'Hebron) ; Albisu, Marian (Hospital Universitari Vall d'Hebron) ; Clemente, Maria (Hospital Universitari Vall d'Hebron) ; Gussinyer Canadell, Miquel (Hospital Universitari Vall d'Hebron) ; Yeste Fernández, Diego (Universitat Autònoma de Barcelona. Departament de Pediatria, Obstetrícia i Ginecologia i Medicina Preventiva i Salut Pública)
GH1 gene presents a complex map of single nucleotide polymorphisms (SNPs) in the entire promoter, coding and noncoding regions. The aim of the study was to establish the complete map of GH1 gene SNPs in our control normal population and to analyse its association with adult height. [...]
2007 - 10.1111/j.1365-2265.2006.02718.x
Clinical Endocrinology, Vol. 66 (2 2007) , p. 258-268  
8.
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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8 Audi, Laura
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