Publications by authors named "Heiko Krude"

100Publications

Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study.

Lancet Diabetes Endocrinol 2020 07;8(7):594-605

Academic Center For Thyroid Disease, Department of Internal Medicine, Erasmus Medical Center, Rotterdam, Netherlands. Electronic address:

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http://dx.doi.org/10.1016/S2213-8587(20)30153-4DOI Listing
July 2020

Allan-Herndon-Dudley-Syndrome: Considerations about the Brain Phenotype with Implications for Treatment Strategies.

Exp Clin Endocrinol Diabetes 2020 Jun 2;128(6-07):414-422. Epub 2020 Apr 2.

Division of Metabolic Diseases, Technische Universität München, Munich, Germany.

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http://dx.doi.org/10.1055/a-1108-1456DOI Listing
June 2020

Spatiotemporal Changes of Cerebral Monocarboxylate Transporter 8 Expression.

Thyroid 2020 Sep 17;30(9):1366-1383. Epub 2020 Apr 17.

Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Institute of Experimental Pediatric Endocrinology, Berlin, Germany.

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http://dx.doi.org/10.1089/thy.2019.0544DOI Listing
September 2020

Differential Signaling Profiles of MC4R Mutations with Three Different Ligands.

Int J Mol Sci 2020 Feb 12;21(4). Epub 2020 Feb 12.

Institute of Experimental Pediatric Endocrinology, Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, D-10117 Berlin, Germany.

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http://dx.doi.org/10.3390/ijms21041224DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7072973PMC
February 2020

Interaction of circulating GLP-1 and the response of the dorsolateral prefrontal cortex to food-cues predicts body weight development.

Mol Metab 2019 11 21;29:136-144. Epub 2019 Aug 21.

Charité - Universitätsmedizin Berlin, Clinic of Endocrinology, Diabetes and Metabolism, Berlin, Germany; Charité - Universitätsmedizin Berlin, Charité Center for Cardiovascular Research, Berlin, Germany; Charité - Universitätsmedizin Berlin, DZHK (German Centre for Cardiovascular Research), Partner Site Berlin, Berlin, Germany.

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http://dx.doi.org/10.1016/j.molmet.2019.08.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6812034PMC
November 2019

Signal Transduction and Pathogenic Modifications at the Melanocortin-4 Receptor: A Structural Perspective.

Front Endocrinol (Lausanne) 2019 31;10:515. Epub 2019 Jul 31.

Group Protein X-ray Crystallography and Signal Transduction, Institute of Medical Physics and Biophysics, Berlin Institute of Health, Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, Berlin, Germany.

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http://dx.doi.org/10.3389/fendo.2019.00515DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6685040PMC
July 2019

Evaluation of a rare glucose-dependent insulinotropic polypeptide receptor variant in a patient with diabetes.

Diabetes Obes Metab 2019 05 19;21(5):1168-1176. Epub 2019 Feb 19.

Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany; Institute of Experimental Pediatric Endocrinology, Berlin, Germany.

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http://dx.doi.org/10.1111/dom.13634DOI Listing
May 2019

Sleep Timing in Patients with Precocious and Delayed Pubertal Development.

Clocks Sleep 2019 Mar 16;1(1):140-150. Epub 2019 Feb 16.

Institute for Experimental Pediatric Endocrinology, Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, 13353 Berlin, Germany.

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http://dx.doi.org/10.3390/clockssleep1010013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7509672PMC
March 2019

Melanocortin-4 Receptor Signalling: Importance for Weight Regulation and Obesity Treatment.

Trends Mol Med 2019 02 11;25(2):136-148. Epub 2019 Jan 11.

Institute for Experimental Pediatric Endocrinology, Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin, Augustenburger Platz 1, 13353 Berlin, Germany.

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https://linkinghub.elsevier.com/retrieve/pii/S14714914183022
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http://dx.doi.org/10.1016/j.molmed.2018.12.002DOI Listing
February 2019

A New Multisystem Disorder Caused by the Gαs Mutation p.F376V.

J Clin Endocrinol Metab 2019 04;104(4):1079-1089

Department for Pediatric Endocrinology and Diabetology, Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, Berlin, Germany.

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http://dx.doi.org/10.1210/jc.2018-01250DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6380466PMC
April 2019

An incretin-based tri-agonist promotes superior insulin secretion from murine pancreatic islets via PLC activation.

Cell Signal 2018 11 25;51:13-22. Epub 2018 Jul 25.

Institute of Experimental Pediatric Endocrinology, Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany.

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http://dx.doi.org/10.1016/j.cellsig.2018.07.006DOI Listing
November 2018

MC4R agonism promotes durable weight loss in patients with leptin receptor deficiency.

Nat Med 2018 05 7;24(5):551-555. Epub 2018 May 7.

Institute for Experimental Pediatric Endocrinology, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin and Berlin Institute of Health, Berlin, Germany.

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http://dx.doi.org/10.1038/s41591-018-0015-9DOI Listing
May 2018

Effects of a combined dietary, exercise and behavioral intervention and sympathetic system on body weight maintenance after intended weight loss: Results of a randomized controlled trial.

Metabolism 2018 06 31;83:60-67. Epub 2018 Jan 31.

Department of Endocrinology & Metabolism, Charite - Universitätsmedizin Berlin, Germany; Charité-Center for Cardiovascular Research (CCR), Berlin, Germany; Clinical Research Unit, Berlin Institute of Health (BIH); DZHK (German Centre for Cardiovascular Research), Partner Site Berlin, Germany.

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http://dx.doi.org/10.1016/j.metabol.2018.01.003DOI Listing
June 2018

Life-Limiting Conditions at a University Pediatric Tertiary Care Center: A Cross-Sectional Study.

J Palliat Med 2018 02 3;21(2):169-176. Epub 2018 Jan 3.

1 Charité Universitätsmedizin Berlin Campus Virchow-Klinikum , Clinic for Paediatrics, Department of Oncology/Haematology, Berlin, Germany .

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http://dx.doi.org/10.1089/jpm.2017.0020DOI Listing
February 2018

Evidence of G-protein-coupled receptor and substrate transporter heteromerization at a single molecule level.

Cell Mol Life Sci 2018 06 30;75(12):2227-2239. Epub 2017 Dec 30.

Institut für Experimentelle Pädiatrische Endokrinologie, Charité - Universitätsmedizin Berlin, 13353, Berlin, Germany.

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http://dx.doi.org/10.1007/s00018-017-2728-1DOI Listing
June 2018

Investigation of Naturally Occurring Single-Nucleotide Variants in Human TAAR1.

Front Pharmacol 2017 24;8:807. Epub 2017 Nov 24.

Institute of Experimental Pediatric Endocrinology, Charité - Universitätsmedizin Berlin, Freie Universität Berlin, Humboldt-Universitt zu Berlin, Berlin, Germany.

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http://dx.doi.org/10.3389/fphar.2017.00807DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5705543PMC
November 2017

Weight Loss Partially Restores Glucose-Driven Betatrophin Response in Humans.

J Clin Endocrinol Metab 2016 Nov 26;101(11):4014-4020. Epub 2016 Jul 26.

Medical Clinic of Endocrinology, Diabetes, and Nutrition (L.M., S.B.,A.-M.D., M.B., V.L., R.J.v.S., T.B., J.S., K.M.) and Department of Pediatric Endocrinology and Diabetology (A.E., H.K.), Charité-Universitaetsmedizin Berlin, 10117 Berlin, Germany, Charité-Center for Cardiovascular Research (L.M., S.B., A.-M.D., M.B., V.L., R.J.v.S., T.B., J.S., K.M.), 10117 Berlin, Germany, and Clinical Research Unit (A.-M.D., K.M.), Berlin Institute of Health 10117 Berlin, Germany; and Experimental and Clinical Research Center (S.B., M.B., R.J.v.S., J.S., K.M.), 13125 Berlin, Germany.

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http://dx.doi.org/10.1210/jc.2016-1788DOI Listing
November 2016

Ring Finger Protein 11 Inhibits Melanocortin 3 and 4 Receptor Signaling.

Front Endocrinol (Lausanne) 2016 8;7:109. Epub 2016 Aug 8.

Institut für Experimentelle Pädiatrische Endokrinologie, Charité-Universitätsmedizin Berlin , Berlin , Germany.

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http://dx.doi.org/10.3389/fendo.2016.00109DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4976663PMC
August 2016

Proopiomelanocortin Deficiency Treated with a Melanocortin-4 Receptor Agonist.

N Engl J Med 2016 Jul;375(3):240-6

From the Institute for Experimental Pediatric Endocrinology (P.K., O.B., H.K.), the Department of Pediatric Endocrinology and Diabetes (S.W., A.G.), the Department of Endocrinology, Diabetes, and Nutrition and Charité Center for Cardiovascular Research (K.M.), and the Department of Dermatology and Allergy, Clinical Research Center for Hair and Skin Science (U.B.-P.), Charité-Universitätsmedizin Berlin, and the Clinical Research Unit, Berlin Institute of Health (K.M.) - all in Berlin; the Institute of Cardiometabolism and Nutrition, Assistance Publique-Hôpitaux de Paris, Nutrition Department, Pitié-Salpêtrière Hospital, INSERM-Sorbonne University, Université Pierre et Marie Curie, Unité Mixte de Recherche Scientifique 1166, Paris (K.C., L.L.M.); and Rhythm Pharmaceuticals, Boston (K.G.).

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http://dx.doi.org/10.1056/NEJMoa1512693DOI Listing
July 2016

Hormonal regulatory mechanisms in obese children and adolescents after previous weight reduction with a lifestyle intervention: maintain - paediatric part - a RCT from 2009-15.

BMC Obes 2016 10;3:29. Epub 2016 Jun 10.

Institute for Experimental Paediatric Endocrinology, Charité University Medicine Berlin, Augustenburger Platz 1, 13353 Berlin, Germany.

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http://dx.doi.org/10.1186/s40608-016-0110-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4901466PMC
June 2016

ANP system activity predicts variability of fat mass reduction and insulin sensitivity during weight loss.

Metabolism 2016 Jun 7;65(6):935-43. Epub 2016 Apr 7.

Department of Endocrinology & Metabolism, Charite - Universitätsmedizin, Berlin, Germany; Charité-Center for Cardiovascular Research (CCR), Berlin, Germany; Experimental and Clinical Research Center (ECRC), Berlin, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.metabol.2016.03.013DOI Listing
June 2016

Surfactant proteins in pediatric interstitial lung disease.

Pediatr Res 2016 Jan 16;79(1-1):34-41. Epub 2015 Sep 16.

Dr von Hauner Children´s Hospital, German Center for Lung Research (DZL), University of Munich, Munich, Germany.

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http://dx.doi.org/10.1038/pr.2015.173DOI Listing
January 2016

NKX2.1-Related Disorders: a novel mutation with mild clinical presentation.

Ital J Pediatr 2015 Jun 24;41:45. Epub 2015 Jun 24.

Department of Medical and Surgical Sciences, Pediatric Unit, University of Bologna, Bologna, Italy.

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http://dx.doi.org/10.1186/s13052-015-0150-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4477322PMC
June 2015

Treatment of congenital thyroid dysfunction: Achievements and challenges.

Best Pract Res Clin Endocrinol Metab 2015 Jun 26;29(3):399-413. Epub 2015 Apr 26.

Institute for Experimental Paediatric Endocrinology, Charite, University-Medicine-Berlin, Augustenburgerplatz 1, D-13353 Berlin, Germany.

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http://dx.doi.org/10.1016/j.beem.2015.04.004DOI Listing
June 2015

3-iodothyronamine differentially modulates α-2A-adrenergic receptor-mediated signaling.

J Mol Endocrinol 2015 Jun 15;54(3):205-16. Epub 2015 Apr 15.

Institut für Experimentelle Pädiatrische EndokrinologieCharité-Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, GermanyDepartment of Cell and Molecular BiologyKarolinska Institutet, Stockholm, SwedenInstitut für BiochemieMolekulare Biochemie, Medizinische Fakultät, University of Leipzig, Leipzig, GermanyInstitut für Experimentelle EndokrinologieCharité-Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany

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http://dx.doi.org/10.1530/JME-15-0003DOI Listing
June 2015

A novel hemizygous mutation of MAMLD1 in a patient with 46,XY complete gonadal dysgenesis.

Sex Dev 2015 3;9(2):80-5. Epub 2015 Feb 3.

Institute for Experimental Paediatric Endocrinology, Charité, Humboldt University Berlin, Berlin, Germany.

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http://dx.doi.org/10.1159/000371603DOI Listing
February 2016

Development and testing in healthy adults of oral hydrocortisone granules with taste masking for the treatment of neonates and infants with adrenal insufficiency.

J Clin Endocrinol Metab 2015 Apr 3;100(4):1681-8. Epub 2015 Feb 3.

The University of Sheffield (M.J.W., G.T., R.J.R.), Sheffield S10 2TN, United Kingdom; Diurnal Limited (D.D., H.H., D.E.), Cardiff CF14 4UJ, United Kingdom; Charité Universitätsmedizen (S.S., H.K., O.B.), 13353 Berlin, Germany; and Simcyp (Certara) Ltd (T.N.J., G.T.), Sheffield S2 4SU, United Kingdom.

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https://academic.oup.com/jcem/article-lookup/doi/10.1210/jc.
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http://dx.doi.org/10.1210/jc.2014-4060DOI Listing
April 2015

Modulation of monocarboxylate transporter 8 oligomerization by specific pathogenic mutations.

J Mol Endocrinol 2015 Feb;54(1):39-50

Institut für Experimentelle Pädiatrische EndokrinologieCharité-Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, GermanyLeibniz-Institut für Molekulare PharmakologieBerlin, GermanyUniversitätsklinikum EssenKlinik für Endokrinologie und Stoffwechselerkrankungen, Essen, GermanyJacobs University BremenBremen, Germany

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https://jme.bioscientifica.com/view/journals/jme/54/1/39.xml
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http://dx.doi.org/10.1530/JME-14-0272DOI Listing
February 2015

Evolution, child development and the thyroid: a phylogenetic and ontogenetic introduction to normal thyroid function.

Authors:
Heiko Krude

Endocr Dev 2014 29;26:1-16. Epub 2014 Aug 29.

Institute for Experimental Paediatric Endocrinology, Charité, University Medicine Berlin, Berlin, Germany.

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https://www.karger.com/Article/FullText/363151
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http://dx.doi.org/10.1159/000363151DOI Listing
May 2015

European Society for Paediatric Endocrinology consensus guidelines on screening, diagnosis, and management of congenital hypothyroidism.

J Clin Endocrinol Metab 2014 Feb 21;99(2):363-84. Epub 2014 Jan 21.

Université Paris Diderot (J.L.), Sorbonne Paris Cité, F-75019 Paris, France; Assistance Publique-Hôpitaux de Paris (AP-HP), Hôpital Robert Debré, Service d'Endocrinologie Diabétologie Pédiatrique et Centre de Référence des Maladies Endocriniennes Rares de la Croissance, F-75019, Paris, France; Institut National de la Santé et de la Recherche Médicale (INSERM), Unité Mixte de Recherche 676, F-75019 Paris, France; Department of Cell Biology and Neurosciences (A.O.), Istituto Superiore di Sanità, 00161 Rome, Italy; Child Health Section of Glasgow University School of Medicine (M.D.), Royal Hospital for Sick Children, Yorkhill, Glasgow G3 8SJ, Scotland, United Kingdom; Swiss Neonatal Screening Laboratory (T.T.), University Children's Hospital, CH-8032 Zurich, Switzerland; Department of Pediatric Endocrinology and Diabetes (H.K.), Charite Children's Hospital, Berlin 10117, Germany; Endocrinology Service and Research Center (G.v.V.), Centre Hospitalier Universitaire Sainte-Justine and Department of Pediatrics, University of Montreal, Montreal, Canada H3T 1C5; AP-HP, Hôpital Necker Enfants-Malades, Endocrinologie, Gynécologie et Diabétologie Pédiatriques (M.P.), Centre de Référence des Maladies Endocriniennes Rares de la Croissance, Université Paris Descartes, Sorbonne Paris Cité, INSERM, Unité 845, F-75015 Paris, France; and Department of Paediatric and Adolescent Medicine and Endocrinology (G.B.), University College London Hospital, and University College London Institute of Child Health, London NW1 2PQ, United Kingdom.

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https://www.eurospe.org/news/newsletters/ESPENewsletter19.pd
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http://press.endocrine.org/doi/abs/10.1210/jc.2013-1891
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http://dx.doi.org/10.1210/jc.2013-1891DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4207909PMC
February 2014

Identification of PENDRIN (SLC26A4) mutations in patients with congenital hypothyroidism and "apparent" thyroid dysgenesis.

J Clin Endocrinol Metab 2014 Jan 20;99(1):E169-76. Epub 2013 Dec 20.

Institute of Experimental Pediatric Endocrinology (P.K., H.B., A.G., H.K.), Charité Universitätsmedizin Berlin, 13353 Berlin, Germany; Department of Pediatric Endocrinology and Diabetes (S.T., T.G., S.A., A.B.), Marmara University Hospital, 34722 Istanbul, Turkey; and Max-Delbrück Center for Molecular Medicine (S.F., W.C.), 13092 Berlin-Buch, Germany.

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https://academic.oup.com/jcem/article-lookup/doi/10.1210/jc.
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http://dx.doi.org/10.1210/jc.2013-2619DOI Listing
January 2014

Inhibition of melanocortin-4 receptor dimerization by substitutions in intracellular loop 2.

J Mol Endocrinol 2013 29;51(1):109-18. Epub 2013 Jun 29.

Institute of Experimental Pediatric Endocrinology, Charité-Universitätsmedizin Berlin, Humboldt-Universität zu Berlin, Augustenburger Platz 1, 13353 Berlin, Germany.

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http://dx.doi.org/10.1530/JME-13-0061DOI Listing
January 2014

Novel insights on thyroid-stimulating hormone receptor signal transduction.

Endocr Rev 2013 Oct 3;34(5):691-724. Epub 2013 May 3.

Institute of Experimental Pediatric Endocrinology, Charité-Universitätsmedizin Berlin, Ostring 3, Augustenburger Platz 1, 13353 Berlin, Germany.

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http://dx.doi.org/10.1210/er.2012-1072DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3785642PMC
October 2013

Alu elements and human common diseases like obesity.

Mob Genet Elements 2012 Jul;2(4):197-201

Institut für Experimentelle Pädiatrische Endokrinologie; Charité Universitätsmedizin Berlin; Berlin.

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http://www.tandfonline.com/doi/abs/10.4161/mge.21470
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http://dx.doi.org/10.4161/mge.21470DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3469432PMC
July 2012

Differences in taste sensitivity between obese and non-obese children and adolescents.

Arch Dis Child 2012 Dec 20;97(12):1048-52. Epub 2012 Sep 20.

Department of Pediatric Endocrinology and Diabetology, Charité Children's Hospital, Universitätsmedizin Berlin, Augustenburger Platz 1, Berlin, Germany.

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http://dx.doi.org/10.1136/archdischild-2011-301189DOI Listing
December 2012

The paediatric Confusion Assessment Method for the Intensive Care Unit (pCAM-ICU): translation and cognitive debriefing for the German-speaking area.

Ger Med Sci 2012 17;10:Doc07. Epub 2012 Apr 17.

Charité - Universitaetsmedizin Berlin, Department of Anaesthesiology and Intensive Care Medicine, Campus Virchow-Klinikum and Campus Charité Mitte, Berlin, Germany.

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http://dx.doi.org/10.3205/000158DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3334933PMC
October 2012

Testosterone production during puberty in two 46,XY patients with disorders of sex development and novel NR5A1 (SF-1) mutations.

Eur J Endocrinol 2012 Jul 3;167(1):125-30. Epub 2012 Apr 3.

Department of Pediatric Endocrinology, University Children's Hospital, Charité, Humboldt University, Augustenburger Platz 1, 13353 Berlin, Germany.

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http://dx.doi.org/10.1530/EJE-11-0944DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3381348PMC
July 2012

MC4R dimerization in the paraventricular nucleus and GHSR/MC3R heterodimerization in the arcuate nucleus: is there relevance for body weight regulation?

Neuroendocrinology 2012 8;95(4):277-88. Epub 2012 Feb 8.

Institute of Experimental Pediatric Endocrinology, Charité Universitätsmedizin Berlin, Humboldt University, Berlin, Germany.

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https://www.karger.com/Article/FullText/334903
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http://dx.doi.org/10.1159/000334903DOI Listing
October 2012

The neuroendocrine circuitry controlled by POMC, MSH, and AGRP.

Handb Exp Pharmacol 2012 (209):47-75

Institut für Experimentelle Pädiatrische Endokrinologie, Charité Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany.

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http://dx.doi.org/10.1007/978-3-642-24716-3_3DOI Listing
April 2012

New pathogenic thyrotropin receptor mutations decipher differentiated activity switching at a conserved helix 6 motif of family A GPCR.

J Clin Endocrinol Metab 2012 Feb 23;97(2):E228-32. Epub 2011 Nov 23.

Institute of Experimental Pediatric Endocrinology, Charité-Universitätsmedizin Berlin, Ostring 3, Augustenburger Platz 1, 13353 Berlin, Germany.

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http://dx.doi.org/10.1210/jc.2011-2106DOI Listing
February 2012

Detection and treatment of congenital hypothyroidism.

Nat Rev Endocrinol 2011 Oct 18;8(2):104-13. Epub 2011 Oct 18.

Institute of Experimental Pediatric Endocrinology, Charité Universitätsmedizin Berlin, Augustenburgerplatz 1, D-13353 Berlin, Germany. annette.grueters@ charite.de

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http://dx.doi.org/10.1038/nrendo.2011.160DOI Listing
October 2011

Functional characterization of novel loss-of-function mutations in the vasopressin type 2 receptor gene causing nephrogenic diabetes insipidus.

Nephrol Dial Transplant 2012 Apr 13;27(4):1521-8. Epub 2011 Sep 13.

Molecular Biochemistry, Institute of Biochemistry, Medical Faculty, University of Leipzig, Leipzig, Germany.

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http://dx.doi.org/10.1093/ndt/gfr487DOI Listing
April 2012

Molecular description of non-autoimmune hyperthyroidism at a neonate caused by a new thyrotropin receptor germline mutation.

Thyroid Res 2011 Aug 3;4 Suppl 1:S8. Epub 2011 Aug 3.

Institute of Experimental Paediatric Endocrinology, Charité Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany.

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http://dx.doi.org/10.1186/1756-6614-4-S1-S8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3155114PMC
August 2011

Rescue of melanocortin 4 receptor (MC4R) nonsense mutations by aminoglycoside-mediated read-through.

Obesity (Silver Spring) 2012 May 7;20(5):1074-81. Epub 2011 Jul 7.

Institute of Experimental Pediatric Endocrinology, Charité Universitätsmedizin Berlin, Berlin, Germany.

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http://dx.doi.org/10.1038/oby.2011.202DOI Listing
May 2012

Diabetes caused by insulin gene (INS) deletion: clinical characteristics of homozygous and heterozygous individuals.

Eur J Endocrinol 2011 Aug 12;165(2):255-60. Epub 2011 May 12.

Department of Pediatric Endocrinology and Diabetes, Charité Children's Hospital, Universitätsmedizin Berlin, Charité Campus Virchow, Augustenburger Platz 1, D-13353 Berlin, Germany.

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http://www.eje-online.org/content/165/2/255.full.pdf
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http://www.eje-online.org/cgi/doi/10.1530/EJE-11-0208
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http://dx.doi.org/10.1530/EJE-11-0208DOI Listing
August 2011

Proinsulin and the proinsulin/insulin ratio in overweight and obese children and adolescents: relation to clinical parameters, insulin resistance, and impaired glucose regulation.

Pediatr Diabetes 2011 May 29;12(3 Pt 2):242-9. Epub 2011 Mar 29.

Department of Pediatric Endocrinology and Diabetology, Charité Universitätsmedizin Berlin, Germany.

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http://dx.doi.org/10.1111/j.1399-5448.2010.00734.xDOI Listing
May 2011

Gamma-glutamyl transferase is strongly associated with degree of overweight and sex.

J Pediatr Gastroenterol Nutr 2011 May;52(5):635-8

Department of Pediatric Endocrinology and Diabetology, Charité Universitätsmedizin Berlin, Germany.

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http://dx.doi.org/10.1097/MPG.0b013e3181f8417fDOI Listing
May 2011

A novel mutation of LHX3 is associated with combined pituitary hormone deficiency including ACTH deficiency, sensorineural hearing loss, and short neck-a case report and review of the literature.

Eur J Pediatr 2011 Aug 20;170(8):1017-21. Epub 2011 Jan 20.

Kinderklinik und Kinderpoliklinik Schwabing Department of Pediatric Endocrinology, Technische Universität München, Kölner Platz 1, 80804, München, Germany.

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August 2011

No advantage.

Dtsch Arztebl Int 2010 Nov 5;107(44):784; author reply 786. Epub 2010 Nov 5.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2992022PMC
November 2010

Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.

Authors:
Elizabeth K Speliotes Cristen J Willer Sonja I Berndt Keri L Monda Gudmar Thorleifsson Anne U Jackson Hana Lango Allen Cecilia M Lindgren Jian'an Luan Reedik Mägi Joshua C Randall Sailaja Vedantam Thomas W Winkler Lu Qi Tsegaselassie Workalemahu Iris M Heid Valgerdur Steinthorsdottir Heather M Stringham Michael N Weedon Eleanor Wheeler Andrew R Wood Teresa Ferreira Robert J Weyant Ayellet V Segrè Karol Estrada Liming Liang James Nemesh Ju-Hyun Park Stefan Gustafsson Tuomas O Kilpeläinen Jian Yang Nabila Bouatia-Naji Tõnu Esko Mary F Feitosa Zoltán Kutalik Massimo Mangino Soumya Raychaudhuri Andre Scherag Albert Vernon Smith Ryan Welch Jing Hua Zhao Katja K Aben Devin M Absher Najaf Amin Anna L Dixon Eva Fisher Nicole L Glazer Michael E Goddard Nancy L Heard-Costa Volker Hoesel Jouke-Jan Hottenga Asa Johansson Toby Johnson Shamika Ketkar Claudia Lamina Shengxu Li Miriam F Moffatt Richard H Myers Narisu Narisu John R B Perry Marjolein J Peters Michael Preuss Samuli Ripatti Fernando Rivadeneira Camilla Sandholt Laura J Scott Nicholas J Timpson Jonathan P Tyrer Sophie van Wingerden Richard M Watanabe Charles C White Fredrik Wiklund Christina Barlassina Daniel I Chasman Matthew N Cooper John-Olov Jansson Robert W Lawrence Niina Pellikka Inga Prokopenko Jianxin Shi Elisabeth Thiering Helene Alavere Maria T S Alibrandi Peter Almgren Alice M Arnold Thor Aspelund Larry D Atwood Beverley Balkau Anthony J Balmforth Amanda J Bennett Yoav Ben-Shlomo Richard N Bergman Sven Bergmann Heike Biebermann Alexandra I F Blakemore Tanja Boes Lori L Bonnycastle Stefan R Bornstein Morris J Brown Thomas A Buchanan Fabio Busonero Harry Campbell Francesco P Cappuccio Christine Cavalcanti-Proença Yii-Der Ida Chen Chih-Mei Chen Peter S Chines Robert Clarke Lachlan Coin John Connell Ian N M Day Martin den Heijer Jubao Duan Shah Ebrahim Paul Elliott Roberto Elosua Gudny Eiriksdottir Michael R Erdos Johan G Eriksson Maurizio F Facheris Stephan B Felix Pamela Fischer-Posovszky Aaron R Folsom Nele Friedrich Nelson B Freimer Mao Fu Stefan Gaget Pablo V Gejman Eco J C Geus Christian Gieger Anette P Gjesing Anuj Goel Philippe Goyette Harald Grallert Jürgen Grässler Danielle M Greenawalt Christopher J Groves Vilmundur Gudnason Candace Guiducci Anna-Liisa Hartikainen Neelam Hassanali Alistair S Hall Aki S Havulinna Caroline Hayward Andrew C Heath Christian Hengstenberg Andrew A Hicks Anke Hinney Albert Hofman Georg Homuth Jennie Hui Wilmar Igl Carlos Iribarren Bo Isomaa Kevin B Jacobs Ivonne Jarick Elizabeth Jewell Ulrich John Torben Jørgensen Pekka Jousilahti Antti Jula Marika Kaakinen Eero Kajantie Lee M Kaplan Sekar Kathiresan Johannes Kettunen Leena Kinnunen Joshua W Knowles Ivana Kolcic Inke R König Seppo Koskinen Peter Kovacs Johanna Kuusisto Peter Kraft Kirsti Kvaløy Jaana Laitinen Olivier Lantieri Chiara Lanzani Lenore J Launer Cecile Lecoeur Terho Lehtimäki Guillaume Lettre Jianjun Liu Marja-Liisa Lokki Mattias Lorentzon Robert N Luben Barbara Ludwig Paolo Manunta Diana Marek Michel Marre Nicholas G Martin Wendy L McArdle Anne McCarthy Barbara McKnight Thomas Meitinger Olle Melander David Meyre Kristian Midthjell Grant W Montgomery Mario A Morken Andrew P Morris Rosanda Mulic Julius S Ngwa Mari Nelis Matt J Neville Dale R Nyholt Christopher J O'Donnell Stephen O'Rahilly Ken K Ong Ben Oostra Guillaume Paré Alex N Parker Markus Perola Irene Pichler Kirsi H Pietiläinen Carl G P Platou Ozren Polasek Anneli Pouta Suzanne Rafelt Olli Raitakari Nigel W Rayner Martin Ridderstråle Winfried Rief Aimo Ruokonen Neil R Robertson Peter Rzehak Veikko Salomaa Alan R Sanders Manjinder S Sandhu Serena Sanna Jouko Saramies Markku J Savolainen Susann Scherag Sabine Schipf Stefan Schreiber Heribert Schunkert Kaisa Silander Juha Sinisalo David S Siscovick Jan H Smit Nicole Soranzo Ulla Sovio Jonathan Stephens Ida Surakka Amy J Swift Mari-Liis Tammesoo Jean-Claude Tardif Maris Teder-Laving Tanya M Teslovich John R Thompson Brian Thomson Anke Tönjes Tiinamaija Tuomi Joyce B J van Meurs Gert-Jan van Ommen Vincent Vatin Jorma Viikari Sophie Visvikis-Siest Veronique Vitart Carla I G Vogel Benjamin F Voight Lindsay L Waite Henri Wallaschofski G Bragi Walters Elisabeth Widen Susanna Wiegand Sarah H Wild Gonneke Willemsen Daniel R Witte Jacqueline C Witteman Jianfeng Xu Qunyuan Zhang Lina Zgaga Andreas Ziegler Paavo Zitting John P Beilby I Sadaf Farooqi Johannes Hebebrand Heikki V Huikuri Alan L James Mika Kähönen Douglas F Levinson Fabio Macciardi Markku S Nieminen Claes Ohlsson Lyle J Palmer Paul M Ridker Michael Stumvoll Jacques S Beckmann Heiner Boeing Eric Boerwinkle Dorret I Boomsma Mark J Caulfield Stephen J Chanock Francis S Collins L Adrienne Cupples George Davey Smith Jeanette Erdmann Philippe Froguel Henrik Grönberg Ulf Gyllensten Per Hall Torben Hansen Tamara B Harris Andrew T Hattersley Richard B Hayes Joachim Heinrich Frank B Hu Kristian Hveem Thomas Illig Marjo-Riitta Jarvelin Jaakko Kaprio Fredrik Karpe Kay-Tee Khaw Lambertus A Kiemeney Heiko Krude Markku Laakso Debbie A Lawlor Andres Metspalu Patricia B Munroe Willem H Ouwehand Oluf Pedersen Brenda W Penninx Annette Peters Peter P Pramstaller Thomas Quertermous Thomas Reinehr Aila Rissanen Igor Rudan Nilesh J Samani Peter E H Schwarz Alan R Shuldiner Timothy D Spector Jaakko Tuomilehto Manuela Uda André Uitterlinden Timo T Valle Martin Wabitsch Gérard Waeber Nicholas J Wareham Hugh Watkins James F Wilson Alan F Wright M Carola Zillikens Nilanjan Chatterjee Steven A McCarroll Shaun Purcell Eric E Schadt Peter M Visscher Themistocles L Assimes Ingrid B Borecki Panos Deloukas Caroline S Fox Leif C Groop Talin Haritunians David J Hunter Robert C Kaplan Karen L Mohlke Jeffrey R O'Connell Leena Peltonen David Schlessinger David P Strachan Cornelia M van Duijn H-Erich Wichmann Timothy M Frayling Unnur Thorsteinsdottir Gonçalo R Abecasis Inês Barroso Michael Boehnke Kari Stefansson Kari E North Mark I McCarthy Joel N Hirschhorn Erik Ingelsson Ruth J F Loos

Nat Genet 2010 Nov 10;42(11):937-48. Epub 2010 Oct 10.

Metabolism Initiative and Program in Medical and Population Genetics, Broad Institute, Cambridge, Massachusetts, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3014648PMC
November 2010

Metformin and placebo therapy both improve weight management and fasting insulin in obese insulin-resistant adolescents: a prospective, placebo-controlled, randomized study.

Eur J Endocrinol 2010 Oct 16;163(4):585-92. Epub 2010 Jul 16.

Department of Pediatric Endocrinology and Diabetology, Charité Children's Hospital, Universitätsmedizin Berlin, Augustenburger Platz 1, Berlin, Germany.

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http://dx.doi.org/10.1530/EJE-10-0570DOI Listing
October 2010

A new phenotype of nongoitrous and nonautoimmune hyperthyroidism caused by a heterozygous thyrotropin receptor mutation in transmembrane helix 6.

J Clin Endocrinol Metab 2010 Aug 25;95(8):3605-10. Epub 2010 May 25.

Institute of Experimental Pediatric Endocrinology, Charité Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany.

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http://dx.doi.org/10.1210/jc.2010-0112DOI Listing
August 2010

Heterodimerization of hypothalamic G-protein-coupled receptors involved in weight regulation.

Obes Facts 2009 9;2(2):80-6. Epub 2009 Apr 9.

Institute of Experimental Pediatric Endocrinology, Charité - Universitatsmedizin Berlin, Germany.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6444828PMC
July 2010

Ongoing expression of Nkx2.1 in the postnatal mouse forebrain: potential for understanding NKX2.1 haploinsufficiency in humans?

Brain Res 2009 Dec 18;1304:164-86. Epub 2009 Sep 18.

Institute of Cell Biology and Neurobiology, Center of Anatomy, Charité-Universitätsmedizin Berlin, Charitéplatz 1, 10117 Berlin, Germany.

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December 2009

Update on the management of congenital hypothyroidism.

Horm Res 2007 10;68 Suppl 5:107-11. Epub 2007 Dec 10.

Charité, Institute for Experimental Pediatric Endocrinology, Berlin, Germany.

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March 2008

HESX1 mutations are an uncommon cause of septooptic dysplasia and hypopituitarism.

J Clin Endocrinol Metab 2007 Feb 5;92(2):691-7. Epub 2006 Dec 5.

Biochemistry, Endocrinology, and Metabolism Unit, Institute of Child Health, London WC1N 1EH, United Kingdom.

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February 2007

Arteries define the position of the thyroid gland during its developmental relocalisation.

Development 2006 Oct;133(19):3797-804

Institute for Developmental Biology, University of Cologne, Gyrhofstrasse 17, Köln, Germany.

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October 2006

A role for beta-melanocyte-stimulating hormone in human body-weight regulation.

Cell Metab 2006 Feb;3(2):141-6

Institute for Pediatric Endocrinology, Charité Universitätsmedizin Berlin, 13353 Berlin, Germany.

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http://dx.doi.org/10.1016/j.cmet.2006.01.007DOI Listing
February 2006

MC4R oligomerizes independently of extracellular cysteine residues.

Peptides 2006 Feb 9;27(2):372-9. Epub 2005 Nov 9.

Otto Heubner Centrum für Kinderheilkunde und Jugendmedizin, Pädiatrische Endokrinologie, Campus Virchow-Klinikum, Charité-Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany.

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February 2006

Molecular genetic defects in congenital hypothyroidism.

Eur J Endocrinol 2004 Nov;151 Suppl 3:U39-44

Paediatric Endocrinology, University Children's Hospital Charite, Augustenburger Platz 1, 13353 Berlin, Germany.

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November 2004

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 dimerization.

Diabetes 2003 Dec;52(12):2984-8

Otto Heubner Centrum für Kinderheilkunde und Jugendmedizin, Pädiatrische Endokrinologie, Charité Campus Virchow-Klinikum, Humboldt-Universität zu Berlin, Berlin, Germany.

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December 2003

Obesity due to proopiomelanocortin deficiency: three new cases and treatment trials with thyroid hormone and ACTH4-10.

J Clin Endocrinol Metab 2003 Oct;88(10):4633-40

Institute of Pediatric Endocrinology, University Children's Hospital, Charite, Humboldt-University Berlin, D-13353 Berlin, Germany.

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October 2003

Mutationally induced disulfide bond formation within the third extracellular loop causes melanocortin 4 receptor inactivation in patients with obesity.

J Biol Chem 2003 Dec 22;278(49):48666-73. Epub 2003 Sep 22.

Otto Heubner Centrum für Kinderheilkunde und Jugendmedizin, Pädiatrische Endokrinologie, Charité Campus Virchow-Klinikum, Humboldt-Universität zu Berlin, Augustenburger Platz 1, 13353 Berlin, Germany.

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December 2003

Mutations in the human proopiomelanocortin gene.

Ann N Y Acad Sci 2003 Jun;994:233-9

Pediatric Endocrinology, Otto Heubner Center for Pediatrics, Charité-University Hospital, Humboldt-University, Berlin, Germany.

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http://dx.doi.org/10.1111/j.1749-6632.2003.tb03185.xDOI Listing
June 2003

Neonatal thyroid disorders.

Horm Res 2003 ;59 Suppl 1:24-9

Department of Paediatric Endocrinology, Charité Children's Hospital, Humboldt University, Berlin, Germany.

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November 2003

Long-term consequences of congenital hypothyroidism in the era of screening programmes.

Best Pract Res Clin Endocrinol Metab 2002 Jun;16(2):369-82

Paediatric Endocrinology, University Children's Hospital Charité, Augustenburger Platz 1, 13353, Berlin, Germany.

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http://dx.doi.org/10.1053/beem.2002.0202DOI Listing
June 2002