Université de Fribourg

A human gonadal cell model from induced pluripotent stem cells

Gutiérrez, Daniel Rodríguez ; Eid, Wassim ; Biason-Lauber, Anna

In: Frontiers in Genetics, 2018, vol. 9, p. -

Sertoli cells are main players in the male gonads development and their study may shed light on 46,XY disorders of sex development (DSD). Mature primary Sertoli cells are incapable of proliferating in prolonged in vitro cultures and the available Sertoli cell models have several limitations since they derive from mouse or human cancer tissues. We differentiated human fibroblasts (HFs)-derived...

Université de Fribourg

Early-onset complete ovarian failure and lack of puberty in a woman with mutated estrogen receptor β (esr2)

Lang-Muritano, Mariarosaria ; Sproll, Patrick ; Wyss, Sascha ; Kolly, Anne ; Hürlimann, Renate ; Konrad, Daniel ; Biason-Lauber, Anna

In: The Journal of Clinical Endocrinology & Metabolism, 2018, vol. 103, no. 10, p. 3748–3756

Estrogen resistance due to mutations in the estrogen receptor α gene (ESR1) has been described in men and women and is characterized by osteoporosis, delayed bone age and continuous growth in adulthood, and delayed puberty and multiple ovarian cysts in women. Although mutations in the estrogen receptor β gene ESR2 were found in 46, XY patients with differences of sex development, no genetic...

Université de Fribourg

Assembling the jigsaw puzzle: CBX2 isoform 2 and its targets in disorders/differences of sex development

Sproll, Patrick ; Eid, Wassim ; Gomes, Camila R. ; Mendonca, Berenice B. ; Gomes, Nathalia L. ; Costa, Elaine M.-F. ; Biason-Lauber, Anna

In: Molecular Genetics & Genomic Medicine, 2018, vol. 6, no. 5, p. 785–795

Background One of the defining moments of human life occurs early during embryonic development, when individuals sexually differentiate into either male or female. Perturbation of this process can lead to disorders/differences of sex development (DSD). Chromobox protein homolog 2 (CBX2) has two distinct isoforms, CBX2.1 and CBX2.2: the role of CBX2.1 in DSD has been previously established,...

Consortium of Swiss Academic Libraries

Congenital adrenal hyperplasia: Diagnostic advances

Torresani, T. ; Biason-Lauber, Anna

In: Journal of Inherited Metabolic Disease, 2007, vol. 30, no. 5, p. 832-832

Consortium of Swiss Academic Libraries

Congenital adrenal hyperplasia: Diagnostic advances

Torresani, T. ; Biason-Lauber, Anna

In: Journal of Inherited Metabolic Disease, 2007, vol. 30, no. 4, p. 563-575

Université de Fribourg

Clinical follow-up of the first SF-1 insufficient female patient = Suivi de la première patiente atteinte d’une insuffisance de SF-1

Gerster, Karine ; Biason-Lauber, Anna ; Schoenle, Eugen J.

In: Annales d’Endocrinologie, 2017, vol. 78, no. 3, p. 156–161

Steroidogenic factor 1 (SF-1/NR5A1) plays a crucial role in regulating adrenal development, gonad determination and differentiation, and in the hypothalamic-pituitary control of reproduction and metabolism. In men (46, XY), it is known that mutations in SF-1/NR5A1 gene cause a wide phenotypic spectrum with variable degrees of undervirilization. In recent years, the role of SF-1 in the ovarian...

Université de Fribourg

Endocrine and molecular investigations in a cohort of 25 adolescent males with prominent/persistent pubertal gynecomastia

Paris, F. ; Gaspari, L. ; Mbou, F. ; Philibert, P. ; Audran, F. ; Morel, Y. ; Biason-Lauber, Anna ; Sultan, C..

In: Andrology, 2016, vol. 4, no. 2, p. 263–269

Pubertal gynecomastia is a common condition observed in up to 65% of adolescent males. It is usually idiopathic and tends to regress within 1–2 years. In this descriptive cross-sectional study, we investigated 25 adolescent males with prominent (>B3) and/or persistent (>2 years) pubertal gynecomastia (P/PPG) to determine whether a hormonal/genetic defect might underline this condition....

Université de Fribourg

Genome-wide identification of CBX2 targets: insights in the human sex development network

Eid, Wassim ; Opitz, Lennart ; Biason-Lauber, Anna

In: Molecular Endocrinology, 2015, p. -

CBX2 (Chromobox homolog 2) is a chromatin modifier that plays an important role in sexual development and its disorders (disorders of sex development, DSD), yet the exact rank and function of human CBX2 in this pathway remains unclear. Here, we performed large-scale mapping and analysis of in vivo target loci of the protein CBX2 in Sertoli-like NT-2D1cells, using the DNA adenine methyltransferase...

Université de Fribourg

Of marsupials and men: “Backdoor” dihydrotestosterone synthesis in male sexual differentiation

Biason-Lauber, Anna ; Miller, Walter L. ; Pandey, Amit V. ; Flück, Christa E.

In: Molecular and Cellular Endocrinology, 2013, vol. 371, no. 1-2, p. 124–132

Following development of the fetal bipotential gonad into a testis, male genital differentiation requires testicular androgens. Fetal Leydig cells produce testosterone that is converted to dihydrotestosterone in genital skin, resulting in labio-scrotal fusion. An alternative ‘backdoor’ pathway of dihydrotestosterone synthesis that bypasses testosterone has been described in marsupials, but...

Université de Fribourg

Identification of a SIRT1 Mutation in a Family with Type 1 Diabetes

Biason-Lauber, Anna ; Böni-Schnetzler, Marianne ; Hubbard, Basil P. ; Bouzakri, Karim ; Brunner, Andrea ; Cavelti-Weder, Claudia ; Keller, Cornelia ; Meyer-Böni, Monika ; Meier, Daniel T. ; Brorsson, Caroline ; Timper, Katharina ; Leibowitz, Gil ; Patrignani, Andrea ; Bruggmann, Remy ; Boily, Gino ; Zulewski, Henryk ; Geier, Andreas ; Cermak, Jennifer M. ; Elliott, Peter ; Ellis, James L. ; Westphal, Christoph ; Knobel, Urs ; Eloranta, Jyrki J. ; Kerr-Conte, Julie ; Pattou, François ; Konrad, Daniel ; Matter, Christian M. ; Fontana, Adriano ; Rogler, Gerhard ; Schlapbach, Ralph ; Regairaz, Camille ; Carballido, José M. ; Glaser, Benjamin ; McBurney, Michael W. ; Pociot, Flemming ; Sinclair, David A. ; Donath, Marc Y.

In: Cell Metabolism, 2013, vol. 17, no. 3, p. 448-455

Type 1 diabetes is caused by autoimmune-mediated β cell destruction leading to insulin deficiency. The histone deacetylase SIRT1 plays an essential role in modulating several age-related diseases. Here we describe a family carrying a mutation in the SIRT1 gene, in which all five affected members developed an autoimmune disorder: four developed type 1 diabetes, and one developed ulcerative...