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CRISPR-mediated activation of a promoter or enhancer rescues obesity caused by haploinsufficiency

Science (American Association for the Advancement of Science), 2019-01, Vol.363 (6424)

2019

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A statistical approach for array CGH data analysis

BMC bioinformatics, 2005-02, Vol.6 (1), p.27-27, Article 27

2005

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Leptin regulation of bone resorption by the sympathetic nervous system and CART

Nature, 2005-03, Vol.434 (7032), p.514-520

2005

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Melanocortin-4 receptor mutations are a frequent and heterogeneous cause of morbid obesity

The Journal of clinical investigation, 2000-07, Vol.106 (2), p.253-262

2000

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Acute Lesioning and Rapid Repair of Hypothalamic Neurons outside the Blood-Brain Barrier

Cell reports (Cambridge), 2017-06, Vol.19 (11), p.2257-2271

2017

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Mechanism of N-terminal modulation of activity at the melanocortin-4 receptor GPCR

Nature chemical biology, 2012-08, Vol.8 (8), p.725

2012

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Lessons from Extreme Human Obesity: Monogenic Disorders

Endocrinology and metabolism clinics of North America, 2008-09, Vol.37 (3), p.733-751

2008

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The Association of Serum Leptin with Mortality in Older Adults

PloS one, 2015-10, Vol.10 (10), p.e0140763-e0140763

2015

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Identification of AgRP cells in the murine hindbrain that drive feeding

Molecular metabolism (Germany), 2024-02, Vol.80, p.101886-101886, Article 101886

2024

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Postnatal Dynamic Ciliary ARL13B and ADCY3 Localization in the Mouse Brain

Cells (Basel, Switzerland), 2024-01, Vol.13 (3), p.259

2024

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Unexpected Endocrine Features and Normal Pigmentation in a Young Adult Patient Carrying a Novel Homozygous Mutation in the POMC Gene

The journal of clinical endocrinology and metabolism, 2008-12, Vol.93 (12), p.4955-4962

2008

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A mutation in the human leptin receptor gene causes obesity and pituitary dysfunction

Nature (London), 1998-03, Vol.392 (6674), p.398-401

1998

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MRAP2 regulates energy homeostasis by promoting primary cilia localization of MC4R

JCI insight, 2023-01, Vol.8 (2)

2023

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Genetic association study of adiposity and melanocortin-4 receptor (MC4R) common variants: replication and functional characterization of non-coding regions

PloS one, 2014-05, Vol.9 (5), p.e96805

2014

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Cilia and Obesity

Cold Spring Harbor perspectives in biology, 2017-07, Vol.9 (7), p.a028217

2017

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Molecular Genetics of Human Obesity-Associated MC4R Mutations

Annals of the New York Academy of Sciences, 2003-06, Vol.994 (1), p.49-57

2003

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Melanocortin 4 receptor signals at the neuronal primary cilium to control food intake and body weight

The Journal of clinical investigation, 2021-05, Vol.131 (9), p.1-12

2021

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Subcellular localization of MC4R with ADCY3 at neuronal primary cilia underlies a common pathway for genetic predisposition to obesity

Nature genetics, 2018-02, Vol.50 (2), p.180-185

2018

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High Prevalence of Glucose-6-Phosphate Dehydrogenase Deficiency without Gene Mutation Suggests a Novel Genetic Mechanism Predisposing to Ketosis-Prone Diabetes

The journal of clinical endocrinology and metabolism, 2005-08, Vol.90 (8), p.4446-4451

2005

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Lack of support for the association between GAD2 polymorphisms and severe human obesity

PLoS biology, 2005-09, Vol.3 (9), p.e315-e315

2005

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1522-P: Identification of AgRP Cells in the Murine Hindbrain That Drive Feeding

Diabetes (New York, N.Y.), 2023-06, Vol.72 (Supplement_1), p.1

2023

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Engineering the Melanocortin-4 Receptor to Control Gs Signaling in Vivo

Annals of the New York Academy of Sciences, 2003-06, Vol.994 (1), p.225-232

2003

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A frameshift mutation in human MC4R is associated with a dominant form of obesity

Nature genetics, 1998-10, Vol.20 (2), p.113-114

1998

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Melanocortin 4 Receptor Mutations in a Large Cohort of Severely Obese Adults: Prevalence, Functional Classification, Genotype-Phenotype Relationship, and Lack of Association with Binge Eating

The journal of clinical endocrinology and metabolism, 2006-05, Vol.91 (5), p.1811-1818

2006

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Association of functionally significant Melanocortin-4 but not Melanocortin-3 receptor mutations with severe adult obesity in a large North American case–control study

Human molecular genetics, 2009-03, Vol.18 (6), p.1140-1147

2009

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CRISPR-mediated activation of a promoter or enhancer rescues obesity caused by haploinsufficiency

A statistical approach for array CGH data analysis

Leptin regulation of bone resorption by the sympathetic nervous system and CART

Melanocortin-4 receptor mutations are a frequent and heterogeneous cause of morbid obesity

Acute Lesioning and Rapid Repair of Hypothalamic Neurons outside the Blood-Brain Barrier

Mechanism of N-terminal modulation of activity at the melanocortin-4 receptor GPCR

Lessons from Extreme Human Obesity: Monogenic Disorders

The Association of Serum Leptin with Mortality in Older Adults

Identification of AgRP cells in the murine hindbrain that drive feeding

Postnatal Dynamic Ciliary ARL13B and ADCY3 Localization in the Mouse Brain

Unexpected Endocrine Features and Normal Pigmentation in a Young Adult Patient Carrying a Novel Homozygous Mutation in the POMC Gene

A mutation in the human leptin receptor gene causes obesity and pituitary dysfunction

MRAP2 regulates energy homeostasis by promoting primary cilia localization of MC4R

Genetic association study of adiposity and melanocortin-4 receptor (MC4R) common variants: replication and functional characterization of non-coding regions

Cilia and Obesity

Molecular Genetics of Human Obesity-Associated MC4R Mutations

Melanocortin 4 receptor signals at the neuronal primary cilium to control food intake and body weight

Subcellular localization of MC4R with ADCY3 at neuronal primary cilia underlies a common pathway for genetic predisposition to obesity

High Prevalence of Glucose-6-Phosphate Dehydrogenase Deficiency without Gene Mutation Suggests a Novel Genetic Mechanism Predisposing to Ketosis-Prone Diabetes

Lack of support for the association between GAD2 polymorphisms and severe human obesity

1522-P: Identification of AgRP Cells in the Murine Hindbrain That Drive Feeding

Engineering the Melanocortin-4 Receptor to Control Gs Signaling in Vivo

A frameshift mutation in human MC4R is associated with a dominant form of obesity

Melanocortin 4 Receptor Mutations in a Large Cohort of Severely Obese Adults: Prevalence, Functional Classification, Genotype-Phenotype Relationship, and Lack of Association with Binge Eating

Association of functionally significant Melanocortin-4 but not Melanocortin-3 receptor mutations with severe adult obesity in a large North American case–control study

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