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1

Molecules important for thyroid hormone synthesis and action - known facts and future perspectives

Klaudia Brix, Dagmar Führer, Heike Biebermann

Journal:

Thyroid Research

Year:

2011

Language:

english

File:

PDF, 395 KB

english, 2011

2

A Novel Hemizygous Mutation of MAMLD1 in a Patient with 46,XY Complete Gonadal Dysgenesis

Ruiz-Arana, Inge-Lore, H�bner, Angela, Cetingdag, Cigdem, Krude, Heiko, Gr�ters, Annette, Fukami, Maki, Biebermann, Heike, K�hler, Birgit

Journal:

Sexual Development

Year:

2015

Language:

english

File:

PDF, 574 KB

english, 2015

3

3-Iodothyronamine decreases expression of genes involved in iodide metabolism in mouse thyroids and inhibits iodide uptake in PCCL3 thyrocytes

Schanze, Nancy, Jacobi, Simon Friedrich, Rijntjes, Eddy, Mergler, Stefan, del Olmo, Marta, Hoefig, Carolin S., Khajavi, Noushafarin, Lehmphul, Ina, Biebermann, Heike, Mittag, Jens, Koehrle, Josef

Journal:

Year:

2016

Language:

english

File:

PDF, 1.30 MB

english, 2016

4

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

Clément, Karine, Biebermann, Heike, Farooqi, I. Sadaf, Van der Ploeg, Lex, Wolters, Barbara, Poitou, Christine, Puder, Lia, Fiedorek, Fred, Gottesdiener, Keith, Kleinau, Gunnar, Heyder, Nicolas, Schee

Journal:

Nature Medicine

Year:

2018

Language:

english

File:

PDF, 1.29 MB

english, 2018

5

V2 vasopressin receptor dysfunction in nephrogenic diabetes insipidus caused by different molecular mechanisms

Torsten Schöneberg, Angela Schulz, Heike Biebermann, Anette Grüters, Torsten Grimm, Klaus Hübschmann, Guido Filler, Thomas Gudermann, Günter Schultz

Journal:

Year:

1998

Language:

english

File:

PDF, 603 KB

english, 1998

6

Five novel mutations in steroidogenic factor 1 (SF1, NR5A1) in 46,XY patients with severe underandrogenization but without adrenal insufficiency

Birgit Köhler, Lin Lin, Bruno Ferraz-de-Souza, Peter Wieacker, Peter Heidemann, Vanessa Schröder, Heike Biebermann, Dirk Schnabel, Annette Grüters, John C. Achermann

Journal:

Year:

2008

Language:

english

File:

PDF, 266 KB

english, 2008

7

Mutation screen and association studies in the Diacylglycerol O-acyltransferase homolog 2 gene (DGAT2), a positional candidate gene for early onset obesity on chromosome 11q13

Susann Friedel, Kathrin Reichwald, André Scherag, Harald Brumm, Anne-Kathrin Wermter, Hans-Rudolf Fries, Kerstin Koberwitz, Martin Wabitsch, Thomas Meitinger, Matthias Platzer, Heike Biebermann, Anke

Journal:

Year:

2007

Language:

english

File:

PDF, 551 KB

english, 2007

8

Insights into molecular properties of the human monocarboxylate transporter 8 by combining functional with structural information

Gunnar Kleinau, Ulrich Schweizer, Anita Kinne, Josef Köhrle, Annette Grüters, Heiko Krude, Heike Biebermann

Journal:

Thyroid Research

Year:

2011

Language:

english

File:

PDF, 2.76 MB

english, 2011

9

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

Heike Biebermann, Franziska Winkler, Daniela Handke, Annette Grüters, Heiko Krude, Gunnar Kleinau

Journal:

Thyroid Research

Year:

2011

Language:

english

File:

PDF, 830 KB

english, 2011

10

What is hot in experimental thyroidology?

Heike Biebermann

Journal:

Thyroid Research

Year:

2011

Language:

english

File:

PDF, 213 KB

english, 2011

11

Increased constraints on MC4R during primate and human evolution

David A. Hughes, Anke Hinney, Harald Brumm, Anne-Kathrin Wermter, Heike Biebermann, Johannes Hebebrand, Mark Stoneking

Journal:

Year:

2009

Language:

english

File:

PDF, 590 KB

english, 2009

12

A novel melanocortin-4 receptor gene mutation in a female patient with severe childhood obesity

Christian L. Roth, Michael Ludwig, Joachim Woelfle, Zhen-Chuan Fan, Harald Brumm, Heike Biebermann, Ya-Xiong Tao

Journal:

Endocrine (Springer)

Year:

2009

Language:

english

File:

PDF, 296 KB

english, 2009

13

A novel mutation Thr162Arg of the melanocortin 4 receptor gene in a Spanish children and adolescent population

M. C. Ochoa, C. Azcona, H. Biebermann, H. Brumm, C. Razquin, A.-K. Wermter, J. A. Martínez, J. Hebebrand, A. Hinney, M. J. Moreno-Aliaga, A. Marti, Grupo de Estudio Navarro de la Obesidad Infantil (GE

Journal:

Clinical Endocrinology

Year:

2007

Language:

english

File:

PDF, 262 KB

english, 2007

14

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

Carlotta von Berghes, Georg Brabant, Heike Biebermann, Heiko Krude, Susanna Wiegand

Journal:

Pediatric Diabetes

Year:

2011

Language:

english

File:

PDF, 563 KB

english, 2011

15

Mutations in the Human Proopiomelanocortin Gene

HEIKO KRUDE, HEIKE BIEBERMANN, ANNETTE GRÜTERS

Journal:

Annals of the New York Academy of Sciences

Year:

2003

File:

PDF, 167 KB

2003

16

10.1038/509

Krude, Heiko, Biebermann, Heike, Luck, Werner, Horn, Rüdiger, Brabant, Georg, Grüters, Annette

Journal:

Nature Genetics

Year:

1998

Language:

english

File:

PDF, 212 KB

english, 1998

17

Lifestyle Intervention in Obese Children With Variations in the Melanocortin 4 Receptor Gene

Thomas Reinehr, Johannes Hebebrand, Susann Friedel, André M. Toschke, Harald Brumm, Heike Biebermann, Anke Hinney

Journal:

Year:

2009

Language:

english

File:

PDF, 263 KB

english, 2009

18

Constitutively activating TSH-receptor mutations as a molecular cause of non-autoimmune hyperthyroidism in childhood

Biebermann, Heike, Sch&#x000F6, neberg, Torsten, Krude, Heiko, Gudermann, Thomas, Gr&#x000FC, ters, Annette

Journal:

Langenbeck's Archives of Surgery

Year:

2000

Language:

english

File:

PDF, 60 KB

english, 2000

19

Mutant G-protein-coupled receptors as a cause of human diseases

Torsten Schöneberg, Angela Schulz, Heike Biebermann, Thomas Hermsdorf, Holger Römpler, Katrin Sangkuhl

Journal:

Pharmacology & Therapeutics

Year:

2004

Language:

english

File:

PDF, 1.05 MB

english, 2004

20

Screening for mutations of the human thyroid peroxidase gene in patients with congenital hypothyroidism

A. Gruters, B. Kohler, A. Wolf, A. Soling, L. De Vijider, H. Krude, H. Biebermann

Journal:

Early Human Development

Year:

1997

Language:

english

File:

PDF, 86 KB

english, 1997

21

Alterations of neonatal thyroid function

A Grüters, H Krude, H Biebermann, KP Liesenkötter, T Schöneberg, T Gudernamm

Journal:

Acta Paediatrica

Year:

1999

Language:

english

File:

PDF, 605 KB

english, 1999

22

Involvement of the chemokine-like receptor GPR33 in innate immunity

Jens Bohnekamp, Iris Böselt, Anja Saalbach, Anke Tönjes, Peter Kovacs, Heike Biebermann, Hovhannes M. Manvelyan, Tobias Polte, Daniela Gasperikova, Sodnomtsogt Lkhagvasuren, Leslie Baier, Michael Stum

Journal:

Biochemical and Biophysical Research Communications

Year:

2010

Language:

english

File:

PDF, 354 KB

english, 2010

23

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

Heike Biebermann, Tamara R. Castañeda, Frank van Landeghem, Andreas von Deimling, Frederike Escher, Georg Brabant, Johannes Hebebrand, Anke Hinney, Matthias H. Tschöp, Annette Grüters, Heiko Krude

Journal:

Cell Metabolism

Year:

2006

Language:

english

File:

PDF, 363 KB

english, 2006

24

MC4R oligomerizes independently of extracellular cysteine residues

Andrea Elsner, Patrick Tarnow, Michael Schaefer, Petra Ambrugger, Heiko Krude, Annette Grüters, Heike Biebermann

Journal:

Year:

2006

Language:

english

File:

PDF, 425 KB

english, 2006

25

Association between mutations in a thyroid hormone transporter and severe X-linked psychomotor retardation

Edith CH Friesema, Annette Grueters, Heike Biebermann, Heiko Krude, Arpad von Moers, Maarten Reeser, Timothy G Barrett, Edna E Mancilla, Johan Svensson, Monique HA Kester, George GJM Kuiper, Sahila Ba

Journal:

Year:

2004

Language:

english

File:

PDF, 309 KB

english, 2004

26

Rescue of Melanocortin 4 Receptor (MC4R) Nonsense Mutations by Aminoglycoside-Mediated Read-Through

Harald Brumm, Jessica Mühlhaus, Florian Bolze, Susann Scherag, Anke Hinney, Johannes Hebebrand, Susanna Wiegand, Martin Klingenspor, Annette Grüters, Heiko Krude, Heike Biebermann

Journal:

Year:

2012

Language:

english

File:

PDF, 338 KB

english, 2012

27

Melanocortin-4 Receptor Gene Variant I103 Is Negatively Associated with Obesity

Frank Geller, Kathrin Reichwald, Astrid Dempfle, Thomas Illig, Caren Vollmert, Stephan Herpertz, Winfried Siffert, Matthias Platzer, Claudia Hess, Thomas Gudermann, Heike Biebermann, H.-Erich Wichmann

Journal:

The American Journal of Human Genetics

Year:

2004

Language:

english

File:

PDF, 444 KB

english, 2004

28

Mutation screen in the GWAS derived obesity geneSH2B1including functional analyses of detected variants

Anna-Lena Volckmar, Florian Bolze, Ivonne Jarick, Nadja Knoll, André Scherag, Thomas Reinehr, Thomas Illig, Harald Grallert, Heinz-Erich Wichmann, Susanna Wiegand, Heike Biebermann, Heiko Krude, Pamel

Journal:

BMC Medical Genomics

Year:

2012

Language:

english

File:

PDF, 402 KB

english, 2012

29

Identification of the Translation Start Site of the Human Melanocortin 3 Receptor

Tarnow, Patrick, Tarnow, Patrick, Rediger, Anne, Rediger, Anne, Schulz, Angela, Schulz, Angela, Grüters, Annette, Grüters, Annette, Biebermann, Heike, Biebermann, Heike

Journal:

Year:

2012

Language:

english

File:

PDF, 617 KB

english, 2012

30

Both Acyl and Des-Acyl Ghrelin Regulate Adiposity and Glucose Metabolism via Central Nervous System Ghrelin Receptors

Heppner, K. M., Piechowski, C. L., Muller, A., Ottaway, N., Sisley, S., Smiley, D. L., Habegger, K. M., Pfluger, P. T., DiMarchi, R., Biebermann, H., Tschop, M. H., Sandoval, D. A., Perez-Tilve, D.

Journal:

Year:

2014

Language:

english

File:

PDF, 828 KB

english, 2014

31

Identification of PENDRIN ( SLC26A4 ) Mutations in Patients With Congenital Hypothyroidism and “Apparent” Thyroid Dysgenesis

Kühnen, Peter, Turan, Serap, Fröhler, Sebastian, Güran, Tülay, Abali, Saygin, Biebermann, Heike, Bereket, Abdullah, Grüters, Annette, Chen, Wei, Krude, Heiko

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2014

Language:

english

File:

PDF, 316 KB

english, 2014

32

OR03-2 Anovel GH1 mutation resulting in deletion of amino acids 188–190 is associated with retarded growth

Junnila, R.K., Wu, Z., Kelder, B., Hesse, V., Biebermann, H., Blankenstein, O., Kopchick, J.J., Strasburger, C.J.

Journal:

Growth Hormone & IGF Research

Year:

2012

Language:

english

File:

PDF, 61 KB

english, 2012

33

Novel Insights on Thyroid-Stimulating Hormone Receptor Signal Transduction

Kleinau, Gunnar, Neumann, Susanne, Grüters, Annette, Krude, Heiko, Biebermann, Heike

Journal:

Endocrine Reviews

Year:

2013

Language:

english

File:

PDF, 3.79 MB

english, 2013

34

TSH induces metallothionein 1 in thyrocytes via Gq/11- and PKC-dependent signaling

Back, C. M., Stohr, S., Schafer, E. A. M., Biebermann, H., Boekhoff, I., Breit, A., Gudermann, T., Buch, T. R. H.

Journal:

Journal of Molecular Endocrinology

Year:

2013

Language:

english

File:

PDF, 542 KB

english, 2013

35

V2 vasopressin receptor deficiency causes changes in expression and function of renal and hypothalamic components involved in electrolyte and water homeostasis

Schliebe, N., Strotmann, R., Busse, K., Mitschke, D., Biebermann, H., Schomburg, L., Kohrle, J., Bar, J., Rompler, H., Wess, J., Schoneberg, T., Sangkuhl, K.

Journal:

AJP Renal Physiology

Year:

2008

Language:

english

File:

PDF, 365 KB

english, 2008

36

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

Piechowski, C. L., Rediger, A., Lagemann, C., Muhlhaus, J., Muller, A., Pratzka, J., Tarnow, P., Gruters, A., Krude, H., Kleinau, G., Biebermann, H.

Journal:

Journal of Molecular Endocrinology

Year:

2013

Language:

english

File:

PDF, 360 KB

english, 2013

37

Screening for mutations in transcription factors in a Czech cohort of 170 patients with congenital and early-onset hypothyroidism: identification of a novel PAX8 mutation in dominantly inherited early-onset non-autoimmune hypothyroidism

Al Taji, E., Biebermann, H., Limanova, Z., Hnikova, O., Zikmund, J., Dame, C., Gruters, A., Lebl, J., Krude, H.

Journal:

European Journal of Endocrinology

Year:

2007

Language:

english

File:

PDF, 326 KB

english, 2007

38

The extracellular N-terminal domain of G-protein coupled receptor 83 regulates signaling properties and is an intramolecular inverse agonist

Müller, Anne, Leinweber, Brinja, Fischer, Jana, Müller, Timo D, Grüters, Annette, Tschöp, Matthias H, Knäuper, Vera, Biebermann, Heike, Kleinau, Gunnar

Journal:

BMC Research Notes

Year:

2014

Language:

english

File:

PDF, 1.46 MB

english, 2014

39

G13-dependent Activation of MAPK by Thyrotropin

Buch, T. R. H., Biebermann, H., Kalwa, H., Pinkenburg, O., Hager, D., Barth, H., Aktories, K., Breit, A., Gudermann, T.

Journal:

Journal of Biological Chemistry

Year:

2008

Language:

english

File:

PDF, 946 KB

english, 2008

40

Novel mutations of the thyroid peroxidase gene in patients with permanent congenital hypothyroidism

Ambrugger, P, Stoeva, I, Biebermann, H, Torresani, T, Leitner, C, Gruters, A

Journal:

European Journal of Endocrinology

Year:

2001

Language:

english

File:

PDF, 309 KB

english, 2001

41

Comprehensive genotyping and clinical characterisation reveal 27 novel NKX2-1 mutations and expand the phenotypic spectrum

Thorwarth, A., Schnittert-Hubener, S., Schrumpf, P., Muller, I., Jyrch, S., Dame, C., Biebermann, H., Kleinau, G., Katchanov, J., Schuelke, M., Ebert, G., Steininger, A., Bonnemann, C., Brockmann, K.,

Journal:

Journal of Medical Genetics

Year:

2014

Language:

english

File:

PDF, 2.80 MB

english, 2014

42

Association of variants in gastric inhibitory polypeptide receptor gene with impaired glucose homeostasis in obese children and adolescents from Berlin

Sauber, J., Grothe, J., Behm, M., Scherag, A., Grallert, H., Illig, T., Hinney, A., Hebebrand, J., Wiegand, S., Gruters, A., Krude, H., Biebermann, H.

Journal:

European Journal of Endocrinology

Year:

2010

Language:

english

File:

PDF, 149 KB

english, 2010

43

Extended clinical phenotype, endocrine investigations and functional studies of a loss-of-function mutation A150V in the thyroid hormone specific transporter MCT8

Biebermann, H., Ambrugger, P., Tarnow, P., von Moers, A., Schweizer, U., Grueters, A.

Journal:

European Journal of Endocrinology

Year:

2005

Language:

english

File:

PDF, 342 KB

english, 2005

44

Molecular genetic defects in congenital hypothyroidism

Gruters, A, Krude, H, Biebermann, H

Journal:

European Journal of Endocrinology

Year:

2004

Language:

english

File:

PDF, 93 KB

english, 2004

45

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

Biebermann, H., Krude, H., Elsner, A., Chubanov, V., Gudermann, T., Gruters, A.

Journal:

Year:

2003

Language:

english

File:

PDF, 171 KB

english, 2003

46

Analysis of the Wilms' Tumor Suppressor Gene (WT1) in Patients 46,XY Disorders of Sex Development

Köhler, B., Biebermann, H., Friedsam, V., Gellermann, J., Maier, R. F., Pohl, M., Wieacker, P., Hiort, O., Grüters, A., Krude, H.

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2011

Language:

english

File:

PDF, 384 KB

english, 2011

47

Molecular Pathogenesis of Neonatal Hypothyroidism

Krude, Heiko, Biebermann, Heike, Schnabel, Dirk, Ambrugger, Petra, Gr&uuml, ters, Annette

Journal:

Hormone Research

Year:

2000

Language:

english

File:

PDF, 420 KB

english, 2000

48

Treatment of congenital thyroid dysfunction: Achievements and challenges

Krude, Heiko, Kühnen, Peter, Biebermann, Heike

Journal:

Best Practice & Research Clinical Endocrinology & Metabolism

Year:

2015

Language:

english

File:

PDF, 751 KB

english, 2015

49

Mutationally Induced Disulfide Bond Formation within the Third Extracellular Loop Causes Melanocortin 4 Receptor Inactivation in Patients with Obesity

Tarnow, P., Schoneberg, T., Krude, H., Gruters, A., Biebermann, H.

Journal:

Journal of Biological Chemistry

Year:

2003

Language:

english

File:

PDF, 784 KB

english, 2003

50

Modulation of monocarboxylate transporter 8 oligomerization by specific pathogenic mutations

Fischer, J., Kleinau, G., Muller, A., Kuhnen, P., Zwanziger, D., Kinne, A., Rehders, M., Moeller, L. C., Fuhrer, D., Gruters, A., Krude, H., Brix, K., Biebermann, H.

Journal:

Journal of Molecular Endocrinology

Year:

2014

Language:

english

File:

PDF, 472 KB

english, 2014