Research Topics
Genomes and Genes | A GrutersSummaryAffiliation: Humboldt University Country: Germany Publications
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Detail Information
Publications
Ocular manifestations in children and adolescents with thyrotoxicosisA Gruters
Pediatric Endocrinology, Charité Childrens Hospital, Humboldt University, Berlin, Germany
Exp Clin Endocrinol Diabetes 107:S172-4. 1999....
Molecular description of non-autoimmune hyperthyroidism at a neonate caused by a new thyrotropin receptor germline mutationHeike Biebermann
Institute of Experimental Paediatric Endocrinology, Charite Universitatsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany
Thyroid Res 4:S8. 2011..These mutations are mostly located in the serpentine part of this G-protein coupled receptor...- Insights into molecular properties of the human monocarboxylate transporter 8 by combining functional with structural informationGunnar Kleinau
Institut für Experimentelle Pädiatrische Endokrinologie, Charite Universitatsmedizin Berlin, Germany
Thyroid Res 4:S4. 2011..To date, more than 25 pathogenic mutations in hMCT8 are known and they are valuable indicators of important regions for structural and functional MCT8 properties... - Molecular genetic defects in congenital hypothyroidismAnnette Gruters
Paediatric Endocrinology, University Children s Hospital Charite, Augustenburger Platz 1, 13353 Berlin, Germany
Eur J Endocrinol 151:U39-44. 2004..However, many questions regarding the molecular defects and their consequences in the majority of patients with CH still remain open and will be addressed in this article... - [The pediatric-to-adult transit clinic as a quality-securing measure in endocrinological diseases]A Gruters
Zentrum für Kinderheilkunde und Jugendmedizin Charité Berlin
MMW Fortschr Med 147:29, 31-2. 2005.... - Thyroid hormone transporter defectsAnnette Gruters
Institute for Experimental Pediatric Endocrinology, Charite Children s Hospital, Humboldt and Free University, Berlin, Germany
Endocr Dev 10:118-26. 2007..Indeed, thyroid function tests in patients with MCT8 mutations demonstrated marked elevations of serum T3 (in the thyrotoxic range), a significant decrease in serum T4 or fT4 and normal to elevated TSH levels... 
Update on the management of congenital hypothyroidismAnnette Gruters
Charite, Institute for Experimental Pediatric Endocrinology, Berlin, Germany
Horm Res 68:107-11. 2007..Some newborns and infants will have persistently high TSH levels despite normalized T(4)/free T(4) serum concentrations...- Neonatal thyroid disordersAnnette Gruters
Department of Paediatric Endocrinology, Charite Children s Hospital, Humboldt University, Berlin, Germany
Horm Res 59:24-9. 2003.... - [Gene, fast food and no motion. Causes of childhood obesity]A Gruters
Otto Heubner Centrum für Kinderheilkunde und Jugendmedizin, Universitatsklinikum Charite, Campus Virchow Klinikum, Augustenburger Platz 1, D 13353 Berlin
MMW Fortschr Med 144:34-6. 2002..In the case of extremely overweight children, a genetic investigation would be worthwhile... - [Characteristic features of autoimmune thyroid disease in children]Annette Gruters
Institut für Pädiatrische Endokrinologie, Universitatsmedizin Berlin Charite
Z Arztl Fortbild Qualitatssich 98:67-71. 2004..This is why children require more time to achieve remission after anti-thyroid drug treatment. As already indicated, surgery is usually preferred to radioiodine... - The first activating TSH receptor mutation in transmembrane domain 1 identified in a family with nonautoimmune hyperthyroidismH Biebermann
Otto Heubner Centrum für Kinderheilkunde und Jugendmedizin, Pädiatrische Endokrinologie, Charite Campus Virchow Klinikum, Humboldt Universitat zu Berlin, Germany
J Clin Endocrinol Metab 86:4429-33. 2001.... - Novel mutations of the thyroid peroxidase gene in patients with permanent congenital hypothyroidismP Ambrugger
Otto Heubner Zentrum für Kinder und Jugendmedizin, Pädiatrische Endokrinologie, CVK, Humboldt University, Berlin, Germany
Eur J Endocrinol 145:19-24. 2001..It is suggested that iodide organification defects account for 10% of all cases with congenital hypothyroidism (CH). One candidate gene for these defects is the thyroid peroxidase (TPO) gene... - Association of variants in gastric inhibitory polypeptide receptor gene with impaired glucose homeostasis in obese children and adolescents from BerlinJeannine Sauber
Institute of Experimental Pediatric Endocrinology, Charite Universitatsmedizin Berlin, Berlin, Germany
Eur J Endocrinol 163:259-64. 2010..In this study, we screened the GIPR gene for mutations and examined the association between three single-nucleotide polymorphisms (SNPs; rs8111428, rs2302382, rs1800437) and childhood obesity, as well as impaired glucose homeostasis... - Results of the screening program for congenital hypothyroidism in Berlin (1978-1995)A Gruters
Unit for Pediatric Endocrinology, University Children s Hospital, Charite, Virchow Klinikum, Humboldt University, Berlin, Germany
Exp Clin Endocrinol Diabetes 105:28-31. 1997.... - Severe early-onset obesity, adrenal insufficiency and red hair pigmentation caused by POMC mutations in humansH Krude
Department of Pediatrics, Charite, Campus Virchow, Humboldt University Berlin, Germany
Nat Genet 19:155-7. 1998..These findings represent the first examples of a genetic defect within the POMC gene and define a new monogenic endocrine disorder resulting in early-onset obesity, adrenal insufficiency and red hair pigmentation... - A heterozygous mutation in the third transmembrane domain causes a dominant-negative effect on signalling capability of the MC4RPatrick Tarnow
Department of Pediatric Endocrinology, Charite, Campus Virchow Klinikum Universitatsmedizin Berlin, Berlin, Germany
Obes Facts 1:155-62. 2008..For most MC4R mutations a gene dosage effect seems to be the underlying mechanism. However, a dominant negative effect of a heterozygous MC4R mutation was recently identified, pointing to an additional mechanism of MC4R inactivation... - Impaired glucose tolerance and type 2 diabetes mellitus: a new field for pediatrics in EuropeS Wiegand
Paediatric Endocrinology, Charite Children s Hospital, Humboldt University, Berlin, Germany
Int J Obes (Lond) 29:S136-42. 2005..The most sensitive measurement for detecting changes in glucose metabolism in obese children seems to be an oral glucose tolerance test (OGGT) which is not practical for all daily outpatient clinics... - [Who needs what? New approaches to multidisciplinary diagnostics and therapy for adipose children and youths in a multiethnic city]S Wiegand
Interdisziplinäres Sozialpädiatrisches Zentrum und Institut für pädiatrische Endokrinologie und Diabetologie, CCV, Universitatsmedizin, Berlin
Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz 48:307-14. 2005..Therefore, a substantial societal effort is needed to facilitate prevention for all children, and effective therapies have to be tailored depending on biological and psychosocial risk factors... - [Diagnostic classification of mental disorders in infants and toddlers age 0 to 5]Andreas Wiefel
Otto Heubner Centrum für Kinder und Jugendmedizin der Charité, Sozialpadiatrisches Zentrum, Berlin
Prax Kinderpsychol Kinderpsychiatr 56:59-81. 2007..The american practice parameters become adapted and a working title for diagnostic formulation is given. More research should be done against the background of the introduced standards... - Expanded clinical spectrum in hepatocyte nuclear factor 1b-maturity-onset diabetes of the youngKlemens Raile
Department of Pediatric Endocrinology and Diabetes, Charite Campus Virchow, 13353 Berlin, Germany
J Clin Endocrinol Metab 94:2658-64. 2009..We aimed to investigate detailed clinical features and the type of HNF1B gene anomaly in five pediatric cases with HNF1B-MODY... - The spectrum of phenotypes associated with mutations in steroidogenic factor 1 (SF-1, NR5A1, Ad4BP) includes severe penoscrotal hypospadias in 46,XY males without adrenal insufficiencyBirgit Kohler
Developmental Endocrinology Research Group, UCL Institute of Child Health, University College London, London, UK
Eur J Endocrinol 161:237-42. 2009..We hypothesized that NR5A1 mutations could be identified in boys with hypospadias... - Neuronal 3',3,5-triiodothyronine (T3) uptake and behavioral phenotype of mice deficient in Mct8, the neuronal T3 transporter mutated in Allan-Herndon-Dudley syndromeEva K Wirth
Neuroscience Research Center, Charite Universitatsmedizin Berlin, Berlin, Germany
J Neurosci 29:9439-49. 2009.... - Type 2 diabetes and impaired glucose tolerance in European children and adolescents with obesity -- a problem that is no longer restricted to minority groupsSusanna Wiegand
Paediatric Endocrinology, Charite Children s Hospital, Humboldt University of Berlin, Augustenburger Platz 1, 13353 Berlin, Germany
Eur J Endocrinol 151:199-206. 2004..The incidence of childhood obesity and type 2 diabetes is an increasing problem in Europe. We determined the prevalence of impaired glucose regulation in a predominantly Caucasian cohort of 491 children and adolescents with obesity... - Metformin and placebo therapy both improve weight management and fasting insulin in obese insulin-resistant adolescents: a prospective, placebo-controlled, randomized studySusanna Wiegand
Department of Pediatric Endocrinology and Diabetology, Charite Children s Hospital, Universitatsmedizin Berlin, Augustenburger Platz 1, Berlin, Germany
Eur J Endocrinol 163:585-92. 2010..To study whether metformin reduces obesity, homeostasis model assessment for insulin resistance index (HOMA-IR), and the metabolic syndrome (MtS) in obese European adolescents in addition to previous unsuccessful lifestyle intervention... 
Endocrine disruptors and the thyroid gland--a combined in vitro and in vivo analysis of potential new biomarkersCornelia Schmutzler
Institut für Experimentelle Endokrinologie, Charite Universitatsmedizin Berlin, Berlin, Germany
Environ Health Perspect 115:77-83. 2007..However, this is not reflected adequately in current screening and assessment procedures for endocrine activity that to date determine only general parameters of thyroid function...- A role for beta-melanocyte-stimulating hormone in human body-weight regulationHeike Biebermann
Institute for Pediatric Endocrinology, Charite Universitatsmedizin Berlin, 13353 Berlin, Germany
Cell Metab 3:141-6. 2006..In vitro and in vivo data as well as postmortem human brain studies indicate that the POMC-derived neuropeptide beta-MSH plays a critical role in the hypothalamic control of body weight in humans... - Five novel mutations in steroidogenic factor 1 (SF1, NR5A1) in 46,XY patients with severe underandrogenization but without adrenal insufficiencyBirgit Kohler
Department of Pediatric Endocrinology, University Children s Hospital, Charite, Humboldt University, Berlin, Germany
Hum Mutat 29:59-64. 2008..Y138X) revealed impaired transcriptional activation of SF1-responsive target genes. To date, adrenal insufficiency has not occurred in any of the patients. Thus, SF1 mutations are a relatively frequent cause of 46,XY DSD in humans... - The ultraviolet filter benzophenone 2 interferes with the thyroid hormone axis in rats and is a potent in vitro inhibitor of human recombinant thyroid peroxidaseCornelia Schmutzler
Institut für Experimentelle Endokrinologie, Charite Universitatsmedizin Berlin, Chariteplatz 1, D 10117 Berlin, Germany
Endocrinology 148:2835-44. 2007..This new challenge for endocrine regulation must be considered in the context of a still prevailing iodide deficiency in many parts of the world... - Autosomal-dominant mode of inheritance of a melanocortin-4 receptor mutation in a patient with severe early-onset obesity is due to a dominant-negative effect caused by receptor dimerizationHeike Biebermann
Otto Heubner Centrum für Kinderheilkunde und Jugendmedizin, Pädiatrische Endokrinologie, Charite Campus Virchow Klinikum, Humboldt Universitat zu Berlin, Berlin, Germany
Diabetes 52:2984-8. 2003..The finding of receptor dimerization highlights a more complex hypothalamic signaling network governing the regulation of body weight... - Obesity due to proopiomelanocortin deficiency: three new cases and treatment trials with thyroid hormone and ACTH4-10Heiko Krude
Institute of Pediatric Endocrinology, University Children s Hospital, Charite, Humboldt University Berlin, D 13353 Berlin, Germany
J Clin Endocrinol Metab 88:4633-40. 2003..In the same two patients, further investigation revealed a mildly elevated TSH. However, a 1-yr treatment with thyroid hormone did not result in a significant reduction of body weight... - Analysis of the Wilms' tumor suppressor gene (WT1) in patients 46,XY disorders of sex developmentB Kohler
Department of Pediatric Endocrinology, University Children s Hospital, Charite, Augustenburger Platz 1, 13353 Berlin, Germany
J Clin Endocrinol Metab 96:E1131-6. 2011..WT1 mutations have been identified in 46,XY disorders of sex development (DSD) with associated kidney disease and in few isolated forms of 46,XY DSD... - Reduced 11beta-hydroxysteroid dehydrogenase type 1 activity in obese boysSusanna Wiegand
Paediatric Endocrinology, Campus Virchow, Charite University Medicine Berlin, 13353, Berlin, Germany
Eur J Endocrinol 157:319-24. 2007..Altered 11beta-HSD1 may cause tissue-specific Cushing's syndrome with central obesity and impaired glucose homeostasis... - Mutations in the human proopiomelanocortin geneHeiko Krude
Pediatric Endocrinology, Otto Heubner Center for Pediatrics, Charite University Hospital, Humboldt University, Berlin, Germany
Ann N Y Acad Sci 994:233-9. 2003..However, whether partial loss of function mutations in the POMC gene might lead to more circumscribed phenotypes, especially common obesity, remains an open question... - Severe congenital hyperthyroidism caused by a germ-line neo mutation in the extracellular portion of the thyrotropin receptorA Gruters
Children s Hospital, Charite Virchow Klinikum, Humboldt Universität zu, Berlin, Germany
J Clin Endocrinol Metab 83:1431-6. 1998.... - Is there a further acceleration in the age at onset of menarche? A cross-sectional study in 1840 school children focusing on age and bodyweight at the onset of menarcheA M Bau
Institute for Experimental Pediatric Endocrinology, Charite University Medicine Berlin, Berlin, Germany
Eur J Endocrinol 160:107-13. 2009..More than 30 years ago Frisch and Revelle proposed a body weight threshold for the onset of menarche. Based on this hypothesis, a further acceleration of age at menarche can be expected in times of childhood obesity... - A new phenotype of nongoitrous and nonautoimmune hyperthyroidism caused by a heterozygous thyrotropin receptor mutation in transmembrane helix 6Franziska Winkler
Institute of Experimental Pediatric Endocrinology, Charite Universitatsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany
J Clin Endocrinol Metab 95:3605-10. 2010..In the past, it was assumed that thyroid hyperplasia is due to constitutive activation of the Gs/adenylyl cyclase signaling pathway; however, the physiological role of the Gq/11 pathway in this context remains unclear... - Essential molecular determinants for thyroid hormone transport and first structural implications for monocarboxylate transporter 8Anita Kinne
Institut für Experimentelle Endokrinologie, Charite Universitatsmedizin Berlin, 13353 Berlin, Germany
J Biol Chem 285:28054-63. 2010..The MCT8 model allows us to rationalize potential interactions of amino acids including those mutated in patients with Allan-Herndon-Dudley syndrome... - Surface translocation and tri-iodothyronine uptake of mutant MCT8 proteins are cell type-dependentAnita Kinne
Institute for Experimental Endocrinology Institute for Experimental Pediatric Endocrinology, Charite Universitatsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany
J Mol Endocrinol 43:263-71. 2009.... - The prevalence of anti-thyroid peroxidase antibodies and autoimmune thyroiditis in children and adolescents in an iodine replete areaM Kabelitz
University Children's Hospital Charite, Humboldt University Berlin, Augustenburger Platz 1, Germany
Eur J Endocrinol 148:301-7. 2003.... - Mutationally induced disulfide bond formation within the third extracellular loop causes melanocortin 4 receptor inactivation in patients with obesityPatrick Tarnow
Otto Heubner Centrum für Kinderheilkunde und Jugendmedizin, Pädiatrische Endokrinologie, Charite Campus Virchow Klinikum, Humboldt Universitat zu Berlin, Augustenburger Platz 1, 13353 Berlin, Germany
J Biol Chem 278:48666-73. 2003..By demonstrating that a loss of a disulfide bond-participating Cys residue can favor a functionally disastrous disulfide bond, we now add a new mechanism of how Cys residues can be involved in G-protein-coupled receptor malfunction...