Peter Kühnen
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View article: MON-672 Role Of Ligand- And Genetic Variant Dependent Melanocortin 4 Receptor (mc4r) Bias Signaling For The Individual Risk To Develop Obesity
MON-672 Role Of Ligand- And Genetic Variant Dependent Melanocortin 4 Receptor (mc4r) Bias Signaling For The Individual Risk To Develop Obesity Open
Disclosure: L. Ruck: None. P. Scheerer: None. S. Paisdzior: None. S. Wiegand: None. G. Kleinau: None. N. Heyder: None. P. Gmach: None. S. Jyrch: None. A. Beck-Sickinger: None. M. Troll: None. H. Biebermann: None. P. Kühnen: None. Introduct…
View article: Generation of human induced pluripotent stem cell line from an obesity patient with POMC deficiency due to POMC:W84X mutation
Generation of human induced pluripotent stem cell line from an obesity patient with POMC deficiency due to POMC:W84X mutation Open
We generated the human induced pluripotent stem cell (iPSC) line BIHi261-A from dermal fibroblasts of a patient with severe early-onset obesity caused by a homozygous truncating mutation in the POMC gene (W84X). Reprogramming was performed…
View article: [68Ga] labelled Exendin for radioguided surgery of intrapancreatic insulin producing lesions in patients with congenital hyperinsulinism
[68Ga] labelled Exendin for radioguided surgery of intrapancreatic insulin producing lesions in patients with congenital hyperinsulinism Open
View article: <scp>IMPROVE</scp> 2023: The 2nd International Meeting on Pathway‐Related Obesity: Vision & Evidence
<span>IMPROVE</span> 2023: The 2nd International Meeting on Pathway‐Related Obesity: Vision & Evidence Open
A total of 150 clinicians and researchers representing 19 countries came together in person and online to participate in the highly anticipated 2nd International Meeting on Pathway‐Related Obesity: Vision & Evidence (IMPROVE), held on 13–1…
View article: Generation of an isogenic iPSC line via CRISPR correction of the POMC:W84X mutation for monogenic obesity modeling
Generation of an isogenic iPSC line via CRISPR correction of the POMC:W84X mutation for monogenic obesity modeling Open
We report the generation of a genetically corrected induced pluripotent stem cell (iPSC) line, BIHi261-A-1, derived from the patient-specific iPSC line BIHi261-A carrying a homozygous truncating mutation in the POMC gene (POMC:W84X). This …
View article: Regulation of hedonic feeding rhythms by circadian clocks in leptin-receptive neurons
Regulation of hedonic feeding rhythms by circadian clocks in leptin-receptive neurons Open
View article: Hyperphagia in rare melanocortin-4 receptor pathway diseases: therapeutic options and assessing treatment response
Hyperphagia in rare melanocortin-4 receptor pathway diseases: therapeutic options and assessing treatment response Open
View article: Linking international registries to FHIR and Phenopackets with RareLink: a scalable REDCap-based framework for rare disease data interoperability
Linking international registries to FHIR and Phenopackets with RareLink: a scalable REDCap-based framework for rare disease data interoperability Open
Summary While Research Electronic Data Capture (REDCap) has been widely adopted in rare disease research, its unconstrained data format often leads to implementations that lack native interoperability with global health data standards, lim…
View article: Generation of two human induced pluripotent stem cell lines from Allan-Herndon-Dudley syndrome (AHDS) patients with SLC16A2:G401R or SLC16A2: H192R mutation
Generation of two human induced pluripotent stem cell lines from Allan-Herndon-Dudley syndrome (AHDS) patients with SLC16A2:G401R or SLC16A2: H192R mutation Open
View article: Early childhood height, weight, and BMI development in children with monogenic obesity: a European multicentre, retrospective, observational study
Early childhood height, weight, and BMI development in children with monogenic obesity: a European multicentre, retrospective, observational study Open
Federal Ministry of Education and Research as part of the German Center for Child and Adolescent Health, German Research Foundation, Spanish Ministry of Health, The Wellcome Trust, Botnar Fondation, Leducq Foundation, National Institute fo…
View article: Correction of the Allan-Herndon-Dudley syndrome-causing SLC16A2 mutation G401R in a patient derived hiPSC line
Correction of the Allan-Herndon-Dudley syndrome-causing SLC16A2 mutation G401R in a patient derived hiPSC line Open
The X-linked Allan-Herndon-Dudley syndrome (AHDS) is a genetic disorder characterized by severe psychomotor impairment, resulting from mutations in the SLC16A2 gene, which encodes the thyroid hormone transporter MCT8 (monocarboxylate trans…
View article: Correction to: Defining Hyperphagia for Improved Diagnosis and Management of MC4R Pathway–Associated Disease: a Roundtable Summary
Correction to: Defining Hyperphagia for Improved Diagnosis and Management of MC4R Pathway–Associated Disease: a Roundtable Summary Open
View article: An ontology-based rare disease common data model harmonising international registries, FHIR, and Phenopackets
An ontology-based rare disease common data model harmonising international registries, FHIR, and Phenopackets Open
Although rare diseases (RDs) affect over 260 million individuals worldwide, low data quality and scarcity challenge effective care and research. This work aims to harmonise the Common Data Set by European Rare Disease Registry Infrastructu…
View article: Defining Hyperphagia for Improved Diagnosis and Management of MC4R Pathway–Associated Disease: A Roundtable Summary
Defining Hyperphagia for Improved Diagnosis and Management of MC4R Pathway–Associated Disease: A Roundtable Summary Open
View article: Erratum zu: Das Bardet-Biedl-Syndrom
Erratum zu: Das Bardet-Biedl-Syndrom Open
View article: Das Bardet-Biedl-Syndrom
Das Bardet-Biedl-Syndrom Open
Zusammenfassung Hintergrund Das Bardet-Biedl-Syndrom (BBS) ist eine seltene Multisystemerkrankung, die durch Varianten von derzeit 26 bekannten Genen verursacht wird. Abhängig von der Ausprägung der unterschiedlichen Symptome wird die Diag…
View article: Melanocortin-4 Receptor PLC Activation Is Modulated by an Interaction with the Monocarboxylate Transporter 8
Melanocortin-4 Receptor PLC Activation Is Modulated by an Interaction with the Monocarboxylate Transporter 8 Open
The melanocortin-4 receptor (MC4R) is a key player in the hypothalamic leptin–melanocortin pathway that regulates satiety and hunger. MC4R belongs to the G protein-coupled receptors (GPCRs), which are known to form heterodimers with other …
View article: Atypical KCNQ1/Kv7 channel function in a neonatal diabetes patient: Hypersecretion preceded the failure of pancreatic β-cells
Atypical KCNQ1/Kv7 channel function in a neonatal diabetes patient: Hypersecretion preceded the failure of pancreatic β-cells Open
View article: Spatiotemporal expression of thyroid hormone transporter MCT8 and THRA mRNA in human cerebral organoids recapitulating first trimester cortex development
Spatiotemporal expression of thyroid hormone transporter MCT8 and THRA mRNA in human cerebral organoids recapitulating first trimester cortex development Open
View article: <scp>IMPROVE 2022 International Meeting on Pathway‐Related Obesity</scp>: Vision of Excellence
<span>IMPROVE 2022 International Meeting on Pathway‐Related Obesity</span>: Vision of Excellence Open
Summary Nearly 90 clinicians and researchers from around the world attended the first IMPROVE 2022 International Meeting on Pathway‐Related Obesity. Delegates attended in person or online from across Europe, Argentina and Israel to hear th…
View article: Generation of iPSC lines with SLC16A2:G401R or SLC16A2 knock out
Generation of iPSC lines with SLC16A2:G401R or SLC16A2 knock out Open
The X-linked Allan-Herndon-Dudley syndrome (AHDS) is characterized by severely impaired psychomotor development and is caused by mutations in the SLC16A2 gene encoding the thyroid hormone transporter MCT8 (monocarboxylate transporter 8). B…
View article: Spatiotemporal expression of thyroid hormone transporter MCT8 and<i>THRA</i>mRNA in human cerebral organoids recapitulating first trimester cortex development
Spatiotemporal expression of thyroid hormone transporter MCT8 and<i>THRA</i>mRNA in human cerebral organoids recapitulating first trimester cortex development Open
Thyroid hormones (TH) play critical roles during nervous system development and patients carrying coding variants of MCT8 (Monocarboxylate transporter 8) or THRA (Thyroid hormone receptor alpha) present a spectrum of neurological phenotype…
View article: Relevance and consequence of chronic inflammation for obesity development
Relevance and consequence of chronic inflammation for obesity development Open
View article: Abstracts der JA-PED 2023
Abstracts der JA-PED 2023 Open
View article: OR07-01 Aberrant Expression Of Agouti Signaling Protein (ASIP) As A Cause of Monogenic Severe Childhood Obesity
OR07-01 Aberrant Expression Of Agouti Signaling Protein (ASIP) As A Cause of Monogenic Severe Childhood Obesity Open
Disclosure: K. Landgraf: None. E.T. Kempf: None. R. Stein: None. M. Hanschkow: None. Y. Tseng: None. T. Schöneberg: None. E. Zeggini: None. M. Blüher: None. A. Körner: None. Here we identified and characterized a heterozygous tandem duplic…
View article: Biased signaling: Option für die Entwicklung von Adipositas-Medikamenten?
Biased signaling: Option für die Entwicklung von Adipositas-Medikamenten? Open
The leptin-melanocortin pathway is playing a pivotal role for central body weight regulation. The melanocortin 4 receptor (MC4R) is essential to induce satiety after activation by the endogenous ligands α-/β-melanocyte-stimulating hormone.…
View article: Aberrant expression of agouti signaling protein (ASIP) as a cause of monogenic severe childhood obesity
Aberrant expression of agouti signaling protein (ASIP) as a cause of monogenic severe childhood obesity Open
Here we report a heterozygous tandem duplication at the ASIP (agouti signaling protein) gene locus causing ubiquitous, ectopic ASIP expression in a female patient with extreme childhood obesity. The mutation places ASIP under control of th…
View article: Evaluation of Pharmacological Rescue of Melanocortin-4 Receptor Nonsense Mutations by Aminoglycoside
Evaluation of Pharmacological Rescue of Melanocortin-4 Receptor Nonsense Mutations by Aminoglycoside Open
The melanocortin-4 receptor (MC4R) is critical for central satiety regulation, therefore presenting a potent target for pharmacological obesity treatment. Melanocortin-4 receptor mutations prevalently cause monogenetic obesity. A possibili…
View article: Evaluation of Pharmacological Rescue of Melanocortin-4 Receptor Nonsense Mutations by Aminoglycoside
Evaluation of Pharmacological Rescue of Melanocortin-4 Receptor Nonsense Mutations by Aminoglycoside Open
The melanocortin-4 receptor (MC4R) is critical for central satiety regulation, therefore presenting a potent target for pharmacological obesity treatment. Melanocortin-4 receptor mutations prevalently cause monogenetic obesity. A possibili…
View article: ODP607 Long-term Efficacy of Setmelanotide in Patients With POMC or LEPR Deficiency Obesity
ODP607 Long-term Efficacy of Setmelanotide in Patients With POMC or LEPR Deficiency Obesity Open
The melanocortin-4 receptor (MC4R) pathway in the brain is responsible for energy regulation, affecting appetite and body weight. Impairments of this pathway can result in hyperphagia (insatiable hunger) and obesity. The MC4R can be impact…