Search Results - "Kuehnen, Peter"

An Alu element-associated hypermethylation variant of the POMC gene is associated with childhood obesity by Kuehnen, Peter, Mischke, Mona, Wiegand, Susanna, Sers, Christine, Horsthemke, Bernhard, Lau, Susanne, Keil, Thomas, Lee, Young-Ae, Grueters, Annette, Krude, Heiko

“…The individual risk for common diseases not only depends on genetic but also on epigenetic polymorphisms. To assess the role of epigenetic variations in the…”
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Insulin Secretion Defect in Children and Adolescents with Obesity: Clinical and Molecular Genetic Characterization by Enders-Seidlitz, Helena, Raile, Klemens, Gong, Maolian, Galler, Angela, Kuehnen, Peter, Wiegand, Susanna

“…Introduction. Childhood obesity is increasing worldwide and presents as a global health issue due to multiple metabolic comorbidities. About 1% of adolescents…”
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Melanocortin-4 Receptor Signalling: Importance for Weight Regulation and Obesity Treatment by Kühnen, Peter, Krude, Heiko, Biebermann, Heike

“…The melanocortin-4 receptor (MC4R) – embedded in the leptin–melanocortin pathway – is activated by proopiomelanocortin (POMC)-derived neuropeptides such as α-…”
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Alu elements and human common diseases like obesity by Kuehnen, Peter, Krude, Heiko

“…In the past few years the epigenetic impact on human diseases has been studied extensively. However, a controversial debate remains about the influence of…”
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Long-Term MC4R Agonist Treatment in POMC-Deficient Patients by Kühnen, Peter, Clément, Karine

“…In this follow-up study involving two patients with POMC deficiency, treatment with the MC4R agonist setmelanotide resulted in a long-term reduction in body…”
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Melanocortin 4 receptor mutations become common by Kühnen, Peter, Biebermann, Heike, Krude, Heiko

“…In a new paper, Wade et al. (2021) analyzed the frequency of MC4R loss-of-function (LoF) mutations in a population-based Avon Longitudinal Study of Parents and…”
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Proopiomelanocortin Deficiency Treated with a Melanocortin-4 Receptor Agonist by Kühnen, Peter, Clément, Karine, Wiegand, Susanna, Blankenstein, Oliver, Gottesdiener, Keith, Martini, Lea L, Mai, Knut, Blume-Peytavi, Ulrike, Grüters, Annette, Krude, Heiko

“…Absence of proopiomelanocortin results in early-onset obesity, hyperphagia, hypopigmentation, and hypocortisolism. Two affected patients received…”
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MC4R agonism promotes durable weight loss in patients with leptin receptor deficiency by 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, Scheerer, Patrick, Blume-Peytavi, Ulrike, Jahnke, Irina, Sharma, Shubh, Mokrosinski, Jacek, Wiegand, Susanna, Müller, Anne, Weiß, Katja, Mai, Knut, Spranger, Joachim, Grüters, Annette, Blankenstein, Oliver, Krude, Heiko, Kühnen, Peter

“…Genetic defects underlying the melanocortin-4 receptor (MC4R) signaling pathway lead to severe obesity. Three severely obese LEPR-deficient individuals were…”
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Interactions between nocturnal melatonin secretion, metabolism, and sleeping behavior in adolescents with obesity by Overberg, Johanna, Kalveram, Laura, Keller, Theresa, Krude, Heiko, Kühnen, Peter, Wiegand, Susanna

“…Background/objectives Sleeping behavior and individual prospensity in sleep timing during a 24 h period, known as chronotypes, are underestimated factors,…”
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Efficacy and safety of setmelanotide, an MC4R agonist, in individuals with severe obesity due to LEPR or POMC deficiency: single-arm, open-label, multicentre, phase 3 trials by Clément, Karine, van den Akker, Erica, Argente, Jesús, Bahm, Allison, Chung, Wendy K, Connors, Hillori, De Waele, Kathleen, Farooqi, I Sadaf, Gonneau-Lejeune, Julie, Gordon, Gregory, Kohlsdorf, Katja, Poitou, Christine, Puder, Lia, Swain, James, Stewart, Murray, Yuan, Guojun, Wabitsch, Martin, Kühnen, Peter, Pigeon-Kherchiche, Patricia, Flaus-Furmaniuk, Anna, Bald, Martin, Denzer, Christian, von Schnurbein, Julia, Abawi, Ozair, Blume-Peytavi, Ulrike, Krabusch, Philipp, Mai, Knut, Schnabel, Dirk, Wiegand, Susanna, Flück, Christa E, Schulz, Esther, Voss, Egbert, Bratina, Natasa, Weiss, Katja, Martos-Moreno, Gabriel Á, Danset, Alban, Gougis, Paul, Dubern, Béatrice, Clément, Karine, van den Akker, Erica L.T., Argente, Jesús, Bahm, Allison L, Chung, Wendy K, Connors, Hillori S, De Waele, Kathleen, Farooqi, Ismaa Sadaf, Gonneau-Lejeune, Julie, Gordon, Gregory A, Poitou, Christine, Puder, Lia, Swain, James M, Stewart, Murray W, Yuan, Goujun, Wabitsch, Martin, Kühnen, Peter

“…The melanocortin 4 receptor (MC4R), a component of the leptin–melanocortin pathway, plays a part in bodyweight regulation. Severe early-onset obesity can be…”
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Spatiotemporal expression of thyroid hormone transporter MCT8 and THRA mRNA in human cerebral organoids recapitulating first trimester cortex development by Graffunder, Adina Sophie, Bresser, Audrey Amber Julie, Fernandez Vallone, Valeria, Megges, Matthias, Stachelscheid, Harald, Kühnen, Peter, Opitz, Robert

“…Thyroid hormones (TH) play critical roles during nervous system development and patients carrying coding variants of MCT8 (monocarboxylate transporter 8) or…”
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Design and Characterization of a Fluorescent Reporter Enabling Live-cell Monitoring of MCT8 Expression by Graffunder, Adina Sophie, Paisdzior, Sarah, Opitz, Robert, Renko, Kostja, Kühnen, Peter, Biebermann, Heike

“…The monocarboxylate transporter 8 (MCT8) is a specific thyroid hormone transporter and plays an essential role in fetal development. Inactivating mutations in…”
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Somatic mutations and progressive monosomy modify SAMD9-related phenotypes in humans by Buonocore, Federica, Kühnen, Peter, Suntharalingham, Jenifer P, Del Valle, Ignacio, Digweed, Martin, Stachelscheid, Harald, Khajavi, Noushafarin, Didi, Mohammed, Brady, Angela F, Blankenstein, Oliver, Procter, Annie M, Dimitri, Paul, Wales, Jerry K H, Ghirri, Paolo, Knöbl, Dieter, Strahm, Brigitte, Erlacher, Miriam, Wlodarski, Marcin W, Chen, Wei, Kokai, George K, Anderson, Glenn, Morrogh, Deborah, Moulding, Dale A, McKee, Shane A, Niemeyer, Charlotte M, Grüters, Annette, Achermann, John C

“…It is well established that somatic genomic changes can influence phenotypes in cancer, but the role of adaptive changes in developmental disorders is less…”
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An Integrated Understanding of the Molecular Mechanisms of How Adipose Tissue Metabolism Affects Long-term Body Weight Maintenance by Mai, Knut, Li, Linna, Wiegand, Susanna, Brachs, Maria, Leupelt, Verena, Ernert, Andrea, Kühnen, Peter, Hübner, Norbert, Robinson, Peter, Chen, Wei, Krude, Heiko, Spranger, Joachim

“…Lifestyle-based weight loss interventions frequently demonstrate long-term inefficiency and weight regain. Identification of underlying mechanisms and…”
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Structures of active melanocortin-4 receptor–Gs-protein complexes with NDP-α-MSH and setmelanotide by Heyder, Nicolas A., Kleinau, Gunnar, Speck, David, Schmidt, Andrea, Paisdzior, Sarah, Szczepek, Michal, Bauer, Brian, Koch, Anja, Gallandi, Monique, Kwiatkowski, Dennis, Bürger, Jörg, Mielke, Thorsten, Beck-Sickinger, Annette G., Hildebrand, Peter W., Spahn, Christian M. T., Hilger, Daniel, Schacherl, Magdalena, Biebermann, Heike, Hilal, Tarek, Kühnen, Peter, Kobilka, Brian K., Scheerer, Patrick

“…The melanocortin-4 receptor (MC4R), a hypothalamic master regulator of energy homeostasis and appetite, is a class A G-protein-coupled receptor and a prime…”
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Relevance and consequence of chronic inflammation for obesity development by Ruck, Lisa, Wiegand, Susanna, Kühnen, Peter

“…Background Increasing prevalence of morbid obesity accompanied by comorbidities like type 2 diabetes mellitus (T2DM) led to a demand for improving therapeutic…”
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Understanding the Patient Experience of Hunger and Improved Quality of Life with Setmelanotide Treatment in POMC and LEPR Deficiencies by Wabitsch, Martin, Fehnel, Sheri, Mallya, Usha G., Sluga-O’Callaghan, Martina, Richardson, David, Price, Mark, Kühnen, Peter

“…Introduction In patients with pro-opiomelanocortin (POMC) or leptin receptor (LEPR) deficiency, managing obesity and hyperphagia can be burdensome for patients…”
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Interindividual Variation in DNA Methylation at a Putative POMC Metastable Epiallele Is Associated with Obesity by Kühnen, Peter, Handke, Daniela, Waterland, Robert A., Hennig, Branwen J., Silver, Matt, Fulford, Anthony J., Dominguez-Salas, Paula, Moore, Sophie E., Prentice, Andrew M., Spranger, Joachim, Hinney, Anke, Hebebrand, Johannes, Heppner, Frank L., Walzer, Lena, Grötzinger, Carsten, Gromoll, Jörg, Wiegand, Susanna, Grüters, Annette, Krude, Heiko

“…The estimated heritability of human BMI is close to 75%, but identified genetic variants explain only a small fraction of interindividual body-weight…”
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Primary sulphonylurea therapy in a newborn with transient neonatal diabetes attributable to a paternal uniparental disomy 6q24 (UPD6) by Neumann, Uta, Bührer, Christoph, Blankenstein, Oliver, Kühnen, Peter, Raile, Klemens

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Mean High-Dose l-Thyroxine Treatment Is Efficient and Safe to Achieve a Normal IQ in Young Adult Patients With Congenital Hypothyroidism by Aleksander, Paulina E, Brückner-Spieler, Michaela, Stoehr, Anne-Marie, Lankes, Erwin, Kühnen, Peter, Schnabel, Dirk, Ernert, Andrea, Stäblein, Walter, Craig, Maria E, Blankenstein, Oliver, Grüters, Annette, Krude, Heiko

“…Abstract Context The optimal levothyroxine (LT4) dose to treat congenital hypothyroidism (CH) remains unclear, with debate over whether higher starting doses…”
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