Group Leader

Anna Lauber-Biason, MD

Name of the Institution

University Children's Hospital
Division of Endocrinology and Diabetology

Street

Steinwiesstrasse 75

City

8032 Zürich

Phone

+41-44-266 76 23

E-mail

not mentioned

Group Members

Duff Corsin, Medical Student
Ross Daniel, Technician
Rosa Stephanie, MD postdoc
Meyer Monika,  laboratory assistant
Schönle Eugen, MD Head of Division
Torresani Toni, PhD
Weiss Rita, MD visiting scientist

Main Field(s) of Research, Abstract

We direct our efforts toward several goals: 1. Clarification of the molecular basis of disorders of sexual differentiation in patients 2. Using a patient-based approach, we analyze the role of several transcription factors in pituitary development in children affected by pituitary hormone insufficiency. That is expected to help the understanding of the mechanisms governing pituitary ontogeny in humans and allow a better diagnosis and treatment. 3. Study of the regulation of determination and development of steroidogenic tissues, with particular focus on the adrenal gland. The understanding of the mechanism(s) governing adrenarche helps the comprehension of its part as physiological adjuvant of puberty initiation and of its emerging role as forerunner for adult disease, such as the syndrome X (insulin resistance, obesity, hypertension, dyslipidemia).
4. Pathophysiology of monogenic forms of diabetes (e.g. MODY) and of type I diabetes, with special attention to b-cells regeneration process, as a possible alternative for the treatment and cure of diabetes.

Main Fields of Research, Keywords

Pituitary ontogeny, pituitary hormones deficiency, adrenarche, puberty, syndrome X, diabetes

Special Techniques and Equipment

not mentioned

Education and Training

We offer the opportunity of training for medical students, PhD students and Postgraduate Course of medicine candidates who might be interested in the projects. The maintainance of continuos education is supported by weekly seminar series, research report meeting etc.

Selected Publications

Biason-Lauber A, Kempken B, Werder E, Forest MG, Einaudi S, Ranke MB, Matsuo N, Brunelli V, Schönle E, Zachmann M. (2000) 17a-hydroxylase/17,20-lyase deficiency as a model to study enzymatic activity regulation: role of phosphorylation. J Clin Endocrinol Metab 85: 1226-1231

Biason-Lauber A, Zachmann M, Schönle EJ (2000) Effect of leptin on CYP17 enzymatic activities in human adrenal cells: new insight in the onset of adrenarche. Endocrinology 141: 1446-1454

Biason-Lauber A, Schmitt S, Betts D, Schönle EJ (2000) Genomic structure, chromosomal localization and expression pattern of the human Lim-Homeobox 3 (LHX3) gene. Biochem Biophys Res Commun 274: 49-56

Biason-Lauber A, Schönle EJ (2000) Apparently normal ovarian differentiation in a prepubertal girl with transcriptionally inactive steroidogenic factor-1 (NR5A1/SF-1) and adrenocortical insufficiency. Am J Hum Genet 67:1563-1568

Schönle EJ, Lang-Muritano M, Gschwend S, Laimbacher J, Mullis PE, Torresani T, Biason-Lauber A, Molinari L (2001) Epidemiology of type 1 diabetes mellitus in Switzerland: steep rise in incidence in under 5 year old children in the past decade. Diabetologia 44: 286-289

Di Cerbo A, Biason-Lauber A, Savino M, Piemontese MR, Di Giorgio A, Perona M, Savoia A (2002) Combined 17a-hydroxylase/17,20-lyase deficiency caused by Phe93Cys mutation in the CYP17 gene. J Clin Endocrinol Metab 87: 898-905

Biason-Lauber A, Lang-Muritano M, Vaccaro T, Schoenle EJ (2002) Loss of kinase activity in a patient with Wolcott-Rallison syndrome caused by a novel mutation in the EIF2AK3 gene. Diabetes 51: 2301-2305

Steigert M, Schoenle EJ, Biason-Lauber A, Torresani T (2002) High reliability of neonatal screening for congenital adrenal hyperplasia in Switzerland. J Clin Endocrinol Metab 87: 4106-4110 (Impact factor: 5.160)

Biason-Lauber A, Konrad D, Navratil F, Schoenle EJ (2004) A WNT4 mutation associated with mullerian duct regression and virilization in a 46,XX woman. New Engl J Med 351: 792-798 (Impact factor: 44.016)

Brun T, Franklin I, St-Onge L, Biason-Lauber A, Schoenle EJ, Wollheim CB, Gauthier BR (2004) The diabetes-linked transcription factor PAX4 promotes b-cell proliferation and survival in rat and human islets. J Cell Biol 167: 1123-1135 (Impact factor 10.951)

Biason-Lauber A, Boehm B, Lang-Muritano M, Gauthier BR, Brun T, Wollheim C, Schoenle EJ (2005) Association of childhood type 1 diabetes mellitus with a genomic variant of PAX4: possible link to b-cell regeneration capacity. Diabetologia 48:900-905 (Impact factor 5.028).

Funding

Swiss National Science Foundation, Sandoz-Stiftung zur Förderung der medizinisch-biologischen Wissenschaften, Forschungskredit Universität Zürich

URL

http://www.kispi.uzh.ch 

Link to "Forschungsdatenbank" of the University

not mentioned