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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
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
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
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.
- Published in:
- 2003
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- Publication type:
- journal 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
Novel mutations in LHX3 are associated with hypopituitarism and sensorineural hearing loss.
- Published in:
- Human Molecular Genetics, 2008, v. 17, n. 14, p. 2150, doi. 10.1093/hmg/ddn114
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- Publication type:
- Article
3-iodothyronamine, a novel endogenous Modulator of Transient Receptor Potential Melastatin 8?
- Published in:
- Frontiers in Endocrinology, 2017, p. 1, doi. 10.3389/fendo.2017.00198
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- Publication type:
- Article
Structural-Functional Features of the Thyrotropin Receptor: A Class A G-Protein-Coupled Receptor at work.
- Published in:
- Frontiers in Endocrinology, 2017, v. 8, p. 1, doi. 10.3389/fendo.2017.00086
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- Publication type:
- Article
Both Acyl and Des-Acyl Ghrelin Regulate Adiposity and Glucose Metabolism via Central Nervous System Ghrelin Receptors.
- Published in:
- Diabetes, 2014, v. 63, n. 1, p. 122, doi. 10.2337/db13-0414
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- Publication type:
- Article
Mesenchymal Transglutaminase 2 Activates Epithelial ADAM17: Link to G-Protein-Coupled Receptor 56 (ADGRG1) Signalling.
- Published in:
- International Journal of Molecular Sciences, 2024, v. 25, n. 4, p. 2329, doi. 10.3390/ijms25042329
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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.
- Published in:
- 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.
- Published in:
- 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
Relevance of polymorphisms in MC4R and BDNF in short normal stature.
- Published in:
- 2018
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- Publication type:
- journal 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
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
3-Iodothyronamine Activates a Set of Membrane Proteins in Murine Hypothalamic Cell Lines.
- Published in:
- Frontiers in Endocrinology, 2018, p. N.PAG, doi. 10.3389/fendo.2018.00523
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- Publication type:
- Article
A Novel Hemizygous Mutation of MAMLD1 in a Patient with 46,XY Complete Gonadal Dysgenesis.
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- Sexual Development, 2015, v. 9, n. 2, p. 80, doi. 10.1159/000371603
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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.
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- 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.
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- 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
Melanocortin-4 Receptor PLC Activation Is Modulated by an Interaction with the Monocarboxylate Transporter 8.
- Published in:
- International Journal of Molecular Sciences, 2024, v. 25, n. 14, p. 7565, doi. 10.3390/ijms25147565
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- Publication type:
- Article
Meta-Analysis of the INSIG2 Association with Obesity Including 74,345 Individuals: Does Heterogeneity of Estimates Relate to Study Design?
- Published in:
- PLoS Genetics, 2009, v. 5, n. 10, p. 1, doi. 10.1371/journal.pgen.1000694
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- Publication type:
- Article
Decreased melanocortin-4 receptor function conferred by an infrequent variant at the human melanocortin receptor accessory protein 2 gene.
- Published in:
- 2016
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- Publication type:
- journal article
Rescue of Melanocortin 4 Receptor (MC4R) Nonsense Mutations by Aminoglycoside-Mediated Read-Through.
- Published in:
- Obesity (19307381), 2012, v. 20, n. 5, p. 1074, doi. 10.1038/oby.2011.202
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- Publication type:
- Article
Lifestyle Intervention in Obese Children With Variations in the Melanocortin 4 Receptor Gene.
- Published in:
- Obesity (19307381), 2009, v. 17, n. 2, p. 382, doi. 10.1038/oby.2008.422
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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
Pharmacotherapy in Childhood Obesity.
- Published in:
- Hormone Research in Paediatrics, 2022, v. 95, n. 2, p. 177, doi. 10.1159/000518432
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- Publication type:
- Article
Do Common Variants Separate between Obese Melanocortin-4 Receptor Gene Mutation Carriers and Non-Carriers? The Impact of Cryptic Relatedness.
- Published in:
- Hormone Research in Paediatrics, 2012, v. 77, n. 6, p. 358, doi. 10.1159/000338999
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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
Novel mutations of the thyroid peroxidase gene in patients with permanent congenital hypothyroidism.
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- European Journal of Endocrinology, 2001, v. 145, n. 1, p. 19, doi. 10.1530/eje.0.1450019
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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
Severe early-onset obesity, adrenal insufficiency and red hair pigmentation caused by POMC mutations in humans.
- Published in:
- Nature Genetics, 1998, v. 19, n. 2, p. 155, doi. 10.1038/509
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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
- By:
- 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
- By:
- Publication type:
- Article
Severe congenital hyperthyroidism caused by a germ-line neo mutation in the extracellular portion of the thyrotropin receptor.
- Published in:
- 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
A novel melanocortin-4 receptor gene mutation in a female patient with severe childhood obesity.
- Published in:
- Endocrine (1355008X), 2009, v. 36, n. 1, p. 52, doi. 10.1007/s12020-009-9156-4
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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
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
Identification of PENDRIN (SLC26A4) Mutations in Patients With Congenital Hypothyroidism and 'Apparent' Thyroid Dysgenesis.
- Published in:
- 2014
- By:
- 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
- By:
- Publication type:
- Journal Article