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Novel mutations of the thyroid peroxidase gene in patients with permanent congenital hypothyroidism.
- Published in:
- European Journal of Endocrinology, 2001, v. 145, n. 1, p. 19, doi. 10.1530/eje.0.1450019
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- Publication type:
- Article
A New Mechanism in THRA Resistance: The First Disease-Associated Variant Leading to an Increased Inhibitory Function of THRA2.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 10, p. 5338, doi. 10.3390/ijms22105338
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- Publication type:
- Article
Differential Signaling Profiles of MC4R Mutations with Three Different Ligands.
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- International Journal of Molecular Sciences, 2020, v. 21, n. 4, p. 1224, doi. 10.3390/ijms21041224
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- Publication type:
- Article
The Pathogenic TSH β-Subunit Variant C105Vfs114X Causes a Modified Signaling Profile at TSHR.
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- International Journal of Molecular Sciences, 2019, v. 20, n. 22, p. 5564, doi. 10.3390/ijms20225564
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- Publication type:
- Article
Analysis of Human TAAR8 and Murine Taar8b Mediated Signaling Pathways and Expression Profile.
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- International Journal of Molecular Sciences, 2014, v. 15, n. 11, p. 20638, doi. 10.3390/ijms151120638
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- Publication type:
- Article
Constitutively activating TSH-receptor mutations as a molecular cause of non-autoimmune hyperthyroidism in childhood.
- Published in:
- Langenbeck's Archives of Surgery, 2000, v. 385, n. 6, p. 390, doi. 10.1007/s004230000145
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- Publication type:
- Article
Evaluation of Pharmacological Rescue of Melanocortin-4 Receptor Nonsense Mutations by Aminoglycoside.
- Published in:
- Life (2075-1729), 2022, v. 12, n. 11, p. 1793, doi. 10.3390/life12111793
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- Publication type:
- Article
MC4R Dimerization in the Paraventricular Nucleus and GHSR/MC3R Heterodimerization in the Arcuate Nucleus: Is There Relevance for Body Weight Regulation?
- Published in:
- Neuroendocrinology, 2012, v. 95, n. 4, p. 277, doi. 10.1159/000334903
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- Publication type:
- Article
Identification of PENDRIN (SLC26A4) Mutations in Patients With Congenital Hypothyroidism and 'Apparent' Thyroid Dysgenesis.
- Published in:
- 2014
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- Publication type:
- Journal Article
Frequent TSH Receptor Genetic Alterations with Variable Signaling Impairment in a Large Series of Children with Nonautoimmune Isolated Hyperthyrotropinemia.
- Published in:
- 2012
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- Publication type:
- Journal Article
Evaluation of a rare glucose‐dependent insulinotropic polypeptide receptor variant in a patient with diabetes.
- Published in:
- Diabetes, Obesity & Metabolism, 2019, v. 21, n. 5, p. 1168, doi. 10.1111/dom.13634
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- Publication type:
- Article
Signal Transduction and Pathogenic Modifications at the Melanocortin-4 Receptor: A Structural Perspective.
- Published in:
- Frontiers in Endocrinology, 2019, p. 1, doi. 10.3389/fendo.2019.00515
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- Publication type:
- Article
Identification of the Translation Start Site of the Human Melanocortin 3 Receptor.
- Published in:
- Obesity Facts: The European Journal of Obesity, 2012, v. 5, n. 1, p. 45, doi. 10.1159/000336070
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- Publication type:
- Article
Heterodimerization of Hypothalamic G-Protein-Coupled Receptors Involved in Weight Regulation.
- Published in:
- Obesity Facts: The European Journal of Obesity, 2009, v. 2, n. 2, p. 80, doi. 10.1159/000209862
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- Publication type:
- Article
A Heterozygous Mutation in the Third Transmembrane Domain Causes a Dominant-Negative Effect on Signalling Capability of the MC4R.
- Published in:
- Obesity Facts: The European Journal of Obesity, 2008, v. 1, n. 3, p. 155, doi. 10.1159/000138251
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- Publication type:
- Article
Inverse Agonistic Action of 3-Iodothyronamine at the Human Trace Amine-Associated Receptor 5.
- Published in:
- PLoS ONE, 2015, v. 10, n. 2, p. 1, doi. 10.1371/journal.pone.0117774
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- Publication type:
- Article
Mitochondrial DNA Variants in Obesity.
- Published in:
- PLoS ONE, 2014, v. 9, n. 5, p. 1, doi. 10.1371/journal.pone.0094882
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- Publication type:
- Article
G-Protein Coupled Receptor 83 (GPR83) Signaling Determined by Constitutive and Zinc(II)-Induced Activity.
- Published in:
- PLoS ONE, 2013, v. 8, n. 1, p. 1, doi. 10.1371/journal.pone.0053347
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- Publication type:
- Article
Differential Modulation of Beta-Adrenergic Receptor Signaling by Trace Amine-Associated Receptor 1 Agonists.
- Published in:
- PLoS ONE, 2011, v. 6, n. 10, p. 1, doi. 10.1371/journal.pone.0027073
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- Publication type:
- Article
Investigation of a Genome Wide Association Signal for Obesity: Synthetic Association and Haplotype Analyses at the Melanocortin 4 Receptor Gene Locus.
- Published in:
- PLoS ONE, 2010, v. 5, n. 11, p. 1, doi. 10.1371/journal.pone.0013967
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- Publication type:
- Article
A New Phenotype of Nongoitrous and Nonautoimmune Hyperthyroidism Caused by a Heterozygous Thyrotropin Receptor Mutation in Transmembrane Helix 6.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2010, v. 95, n. 8, p. 3605, doi. 10.1210/jc.2010-0112
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- Publication type:
- Article
Prevalence, Spectrum, and Functional Characterization of Melanocortin-4 Receptor Gene Mutations in a Representative Population-Based Sample and Obese Adults from Germany.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2006, v. 91, n. 5, p. 1761, doi. 10.1210/jc.2005-2056
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- Publication type:
- Article
Obesity Due to Proopiomelanocortin Deficiency: Three New Cases and Treatment Trials with Thyroid Hormone and ACTH4 –10.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2003, v. 88, n. 10, p. 4633, doi. 10.1210/jc.2003-030502
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- Publication type:
- Article
Obesity due to proopiomelanocortin deficiency: three new cases and treatment trials with thyroid hormone and ACTH4-10.
- Published in:
- 2003
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- Publication type:
- journal article
Congenital Central Hypothyroidism due to Homozygous Thyrotropin β 313ΔT Mutation Is Caused by a Founder Effect.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2002, v. 87, n. 10, p. 4811, doi. 10.1210/jc.2002-020297
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- Publication type:
- Article
The First Activating TSH Receptor Mutation in Transmembrane Domain 1 Identified in a Family with Nonautoimmune Hyperthyroidism.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2001, v. 86, n. 9, p. 4429, doi. 10.1210/jcem.86.9.7888
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- Publication type:
- Article
Severe congenital hyperthyroidism caused by a germ-line neo mutation in the extracellular portion of the thyrotropin receptor.
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- Journal of Clinical Endocrinology & Metabolism, 1998, v. 83, n. 5, p. 1431, doi. 10.1210/jcem.83.5.4776
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- Publication type:
- Article
Mutations in the Human Proopiomelanocortin Gene.
- Published in:
- Annals of the New York Academy of Sciences, 2003, v. 994, n. 1, p. 233, doi. 10.1111/j.1749-6632.2003.tb03185.x
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- Publication type:
- Article
Increased constraints on MC4R during primate and human evolution.
- Published in:
- Human Genetics, 2009, v. 124, n. 6, p. 633, doi. 10.1007/s00439-008-0591-8
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- Publication type:
- Article
A Setmelanotide-like Effect at MC4R Is Achieved by MC4R Dimer Separation.
- Published in:
- Biomolecules (2218-273X), 2022, v. 12, n. 8, p. 1119, doi. 10.3390/biom12081119
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- Publication type:
- Article
Non-Functional Trace Amine-Associated Receptor 1 Variants in Patients With Mental Disorders.
- Published in:
- Frontiers in Pharmacology, 2019, p. 1, doi. 10.3389/fphar.2019.01027
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- Publication type:
- Article
Spatiotemporal Changes of Cerebral Monocarboxylate Transporter 8 Expression.
- Published in:
- Thyroid, 2020, v. 30, n. 9, p. 1366, doi. 10.1089/thy.2019.0544
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- Publication type:
- Article
Detection of Novel Gene Variants Associated with Congenital Hypothyroidism in a Finnish Patient Cohort.
- Published in:
- Thyroid, 2016, v. 26, n. 9, p. 1215, doi. 10.1089/thy.2016.0016
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- Publication type:
- Article
3-Iodothyronamine Decreases Expression of Genes Involved in Iodide Metabolism in Mouse Thyroids and Inhibits Iodide Uptake in PCCL3 Thyrocytes.
- Published in:
- Thyroid, 2017, v. 27, n. 1, p. 11, doi. 10.1089/thy.2016.0182
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- Publication type:
- Article
A Novel Hemizygous Mutation of MAMLD1 in a Patient with 46,XY Complete Gonadal Dysgenesis.
- Published in:
- Sexual Development, 2015, v. 9, n. 2, p. 80, doi. 10.1159/000371603
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- Publication type:
- Article
Pharmacological treatment strategies for patients with monogenic obesity.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2020, v. 33, n. 8, p. 967, doi. 10.1515/jpem-2020-0129
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- Publication type:
- Article
Analysis of the gene coding for steroidogenic factor 1 (SF1, NR5A1) in a cohort of 50 Egyptian patients with 46,XY disorders of sexdevelopment.
- Published in:
- European Journal of Endocrinology, 2014, v. 170, n. 5, p. 759, doi. 10.1530/EJE-13-0965
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- Publication type:
- Article
Testosterone production during puberty in two 46,XY patients with disorders of sex development and novel NR5A1 (SF-1) mutations.
- Published in:
- European Journal of Endocrinology, 2012, v. 167, n. 1, p. 125, doi. 10.1530/EJE-11-0944
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- Publication type:
- Article
Extended clinical phenotype, endocrine investigations and functional studies of a loss-of-function mutation A150V in the thyroid hormone specific transporter MCT8.
- Published in:
- European Journal of Endocrinology, 2005, v. 153, n. 3, p. 359, doi. 10.1530/eje.1.01980
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- Publication type:
- Article
Mutation analysis of the MCHR1 gene in human obesity.
- Published in:
- European Journal of Endocrinology, 2005, v. 152, n. 6, p. 851, doi. 10.1530/eje.1.01917
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- Publication type:
- Article
Type 2 diabetes and impaired glucose tolerance in European children and adolescents with obesity a problem that is no longer restricted to minority groups.
- Published in:
- European Journal of Endocrinology, 2004, v. 151, n. 2, p. 0199
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- Publication type:
- Article
Molecules important for thyroid hormone synthesis and action - known facts and future perspectives.
- Published in:
- Thyroid Research, 2011, v. 4, n. Suppl 1, p. 1, doi. 10.1186/1756-6614-4-S1-S9
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- Publication type:
- Article
Molecular description of non-autoimmune hyperthyroidism at a neonate caused by a new thyrotropin receptor germline mutation.
- Published in:
- Thyroid Research, 2011, v. 4, n. Suppl 1, p. 1, doi. 10.1186/1756-6614-4-S1-S8
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- Publication type:
- Article
Insights into molecular properties of the human monocarboxylate transporter 8 by combining functional with structural information.
- Published in:
- Thyroid Research, 2011, v. 4, n. Suppl 1, p. 1, doi. 10.1186/1756-6614-4-S1-S4
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- Publication type:
- Article
What is hot in experimental thyroidology?
- Published in:
- Thyroid Research, 2011, v. 4, n. Suppl 1, p. 1, doi. 10.1186/1756-6614-4-S1-I1
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- Publication type:
- Article
The extracellular N-terminal domain of G-protein coupled receptor 83 regulates signaling properties and is an intramolecular inverse agonist.
- Published in:
- BMC Research Notes, 2014, v. 7, n. 1, p. 656, doi. 10.1186/1756-0500-7-913
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- Publication type:
- Article
Mutation screen in the GWAS derived obesity gene SH2B1 including functional analyses of detected variants.
- Published in:
- BMC Medical Genomics, 2012, v. 5, n. 1, p. 65, doi. 10.1186/1755-8794-5-65
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- Publication type:
- Article
Evidence of G-protein-coupled receptor and substrate transporter heteromerization at a single molecule level.
- Published in:
- Cellular & Molecular Life Sciences, 2018, v. 75, n. 12, p. 2227, doi. 10.1007/s00018-017-2728-1
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- Publication type:
- Article
Relevance of polymorphisms in MC4R and BDNF in short normal stature.
- Published in:
- 2018
- By:
- Publication type:
- journal article
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.
- Published in:
- BMC Genetics, 2007, v. 8, p. 1, doi. 10.1186/1471-2156-8-17
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- Publication type:
- Article