Cargando…

Loss of function mutations in the melanocortin 4 receptor in a UK birth cohort

Mutations in the melanocortin 4 receptor gene (MC4R) are associated with obesity but little is known about the prevalence and impact of such mutations throughout human growth and development. We examined the MC4R coding sequence in 5724 participants from the Avon Longitudinal Study of Parents and Ch...

Descripción completa

Detalles Bibliográficos
Autores principales:	Wade, Kaitlin H, Lam, Brian YH, Melvin, Audrey, Pan, Warren, Corbin, Laura J, Hughes, David A, Rainbow, Kara, Chen, Jian-Hua, Duckett, Katie, Liu, Xiaoming, Mokrosiński, Jacek, Mörseburg, Alexander, Neaves, Sam, Williamson, Alice, Zhang, Chen, Farooqi, I. Sadaf, Yeo, Giles SH, Timpson, Nicholas J, O’Rahilly, Stephen
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	2021
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7611835/ https://www.ncbi.nlm.nih.gov/pubmed/34045736 http://dx.doi.org/10.1038/s41591-021-01349-y

Ejemplares similares

SUN-LB107 Functional Characterisation of Human Heterozygous Non-Synonymous MC3R Variants
por: Melvin, Audrey, et al.
Publicado: (2020)

Divergent effects of central melanocortin signalling on fat and sucrose preference in humans
por: van der Klaauw, Agatha A., et al.
Publicado: (2016)

Prevalence of Melanocortin-4 Receptor Deficiency in Europeans and Their Age-Dependent Penetrance in Multigenerational Pedigrees
por: Stutzmann, Fanny, et al.
Publicado: (2008)

Human Obesity: A Heritable Neurobehavioral Disorder That Is Highly Sensitive to Environmental Conditions
por: O'Rahilly, Stephen, et al.
Publicado: (2008)

Obesity-Associated Melanocortin-4 Receptor Mutations Are Associated With Changes in the Brain Response to Food Cues
por: van der Klaauw, Agatha A., et al.
Publicado: (2014)

The Hormonal Control of Food Intake
por: Coll, Anthony P., et al.
Publicado: (2007)

Evaluation of a melanocortin-4 receptor (MC4R) agonist (Setmelanotide) in MC4R deficiency
por: Collet, Tinh-Hai, et al.
Publicado: (2017)

Quantitative mass spectrometry for human melanocortin peptides in vitro and in vivo suggests prominent roles for β-MSH and desacetyl α-MSH in energy homeostasis
por: Kirwan, Peter, et al.
Publicado: (2018)

Hypothalamic loss of Snord116 recapitulates the hyperphagia of Prader-Willi syndrome
por: Polex-Wolf, Joseph, et al.
Publicado: (2018)

The E92K Melanocortin 1 Receptor Mutant Induces cAMP Production and Arrestin Recruitment but Not ERK Activity Indicating Biased Constitutive Signaling
por: Benned-Jensen, Tau, et al.
Publicado: (2011)

Human Semaphorin 3 Variants Link Melanocortin Circuit Development and Energy Balance
por: van der Klaauw, Agatha A., et al.
Publicado: (2019)

Genetic Variance in the Spinocerebellar Ataxia Type 2 (ATXN2) Gene in Children with Severe Early Onset Obesity
por: Figueroa, Karla P., et al.
Publicado: (2009)

MicroRNA-7 regulates melanocortin circuits involved in mammalian energy homeostasis
por: LaPierre, Mary P., et al.
Publicado: (2022)

High morbidity and mortality in children with untreated congenital deficiency of leptin or its receptor
por: Saeed, Sadia, et al.
Publicado: (2023)

Melanocortins, Melanocortin Receptors and Multiple Sclerosis
por: Lisak, Robert P., et al.
Publicado: (2017)

The melanocortin pathway and energy homeostasis: From discovery to obesity therapy
por: Yeo, Giles S.H., et al.
Publicado: (2021)

Genetic architecture of human thinness compared to severe obesity
por: Riveros-McKay, Fernando, et al.
Publicado: (2019)

Human embryonic genome activation initiates at the one-cell stage
por: Asami, Maki, et al.
Publicado: (2022)

Severe obesity and diabetes insipidus in a patient with PCSK1 deficiency()
por: Frank, Graeme R., et al.
Publicado: (2013)

Fat mass and obesity-related (FTO) shuttles between the nucleus and cytoplasm
por: Gulati, Pawan, et al.
Publicado: (2014)

Circulating levels of GDF15 in patients with myalgic encephalomyelitis/chronic fatigue syndrome
por: Melvin, A., et al.
Publicado: (2019)

Anatomía de Gardner
por: O'Rahilly, Ronan
Publicado: (1989)

“Treasure Your Exceptions”—Studying Human Extreme Phenotypes to Illuminate Metabolic Health and Disease: The 2019 Banting Medal for Scientific Achievement Lecture
por: O’Rahilly, Stephen
Publicado: (2021)

Leptin-Mediated Changes in the Human Metabolome
por: Lawler, Katherine, et al.
Publicado: (2020)

FTO is necessary for the induction of leptin resistance by high-fat feeding
por: Tung, Y.C. Loraine, et al.
Publicado: (2015)

Large-scale exome sequence analysis identifies sex- and age-specific determinants of obesity
por: Kaisinger, Lena R., et al.
Publicado: (2023)

Prevalence of Loss-of-Function FTO Mutations in Lean and Obese Individuals
por: Meyre, David, et al.
Publicado: (2010)

Hypothalamic-Specific Manipulation of Fto, the Ortholog of the Human Obesity Gene FTO, Affects Food Intake in Rats
por: Tung, Yi-Chun Loraine, et al.
Publicado: (2010)

AMPK is required for exercise to enhance insulin sensitivity in skeletal muscles
por: Jensen, Jørgen, et al.
Publicado: (2017)

Structural insights into ligand recognition and subtype selectivity of the human melanocortin-3 and melanocortin-5 receptors
por: Feng, Wenbo, et al.
Publicado: (2023)

Heterogeneity of hypothalamic pro-opiomelanocortin-expressing neurons revealed by single-cell RNA sequencing
por: Lam, Brian Y.H., et al.
Publicado: (2017)

Fat: an evolving issue
por: Speakman, John R., et al.
Publicado: (2012)

When Two Pandemics Meet: Why Is Obesity Associated with Increased COVID-19 Mortality?
por: Lockhart, Sam M., et al.
Publicado: (2020)

Melanocortin Regulation of Inflammation
por: Wang, Wei, et al.
Publicado: (2019)

The Multifaceted Melanocortin Receptors
por: Laiho, Linda, et al.
Publicado: (2022)

Editorial: Melanocortins and melanocortin receptors in the regulation of inflammation: mechanisms and novel therapeutic strategies
por: Rinne, Petteri, et al.
Publicado: (2023)

The orphan G protein-coupled receptor GPR139 is activated by the peptides: Adrenocorticotropic hormone (ACTH), α-, and β-melanocyte stimulating hormone (α-MSH, and β-MSH), and the conserved core motif HFRW
por: Nøhr, Anne Cathrine, et al.
Publicado: (2017)

Observations on the Evolution of the Melanocortin Receptor Gene Family: Distinctive Features of the Melanocortin-2 Receptor
por: Dores, Robert M.
Publicado: (2013)

Melanocortin regulation of histaminergic neurons via perifornical lateral hypothalamic melanocortin 4 receptors
por: Michael, Natalie J., et al.
Publicado: (2020)

Data for amino acid alignment of Japanese stingray melanocortin receptors with other gnathostome melanocortin receptor sequences, and the ligand selectivity of Japanese stingray melanocortin receptors
por: Takahashi, Akiyoshi, et al.
Publicado: (2016)

Cannot write session to /tmp/vufind_sessions/sess_uh3fuci6ia0cglusovuppel103