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Methylation and Transcripts Expression at the Imprinted GNAS Locus in Human Embryonic and Induced Pluripotent Stem Cells and Their Derivatives

Stem cell reports, 2014-09, Vol.3 (3), p.432-443

2014

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Mutations causing acrodysostosis-2 facilitate activation of phosphodiesterase 4D3

Human molecular genetics, 2017-10, Vol.26 (20), p.3883-3894

2017

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Functional Characterization of PRKAR1A Mutations Reveals a Unique Molecular Mechanism Causing Acrodysostosis but Multiple Mechanisms Causing Carney Complex

The Journal of biological chemistry, 2015-11, Vol.290 (46), p.27816-27828

2015

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Association Analysis Indicates That a Variant GATA-Binding Site in the PIK3CB Promoter Is a Cis-Acting Expression Quantitative Trait Locus for This Gene and Attenuates Insulin Resistance in Obese Children

Diabetes (New York, N.Y.), 2008-02, Vol.57 (2), p.494-502

2008

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Fetal growth is associated with CpG methylation in the P2 promoter of the IGF1 gene

Clinical epigenetics, 2018-04, Vol.10 (1), p.57-57, Article 57

2018

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The insulin gene VNTR is associated with fasting insulin levels and development of juvenile obesity

Nature genetics, 2000-12, Vol.26 (4), p.444-446

2000

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A common promoter variant of the leptin gene is associated with changes in the relationship between serum leptin and fat mass in obese girls

Diabetes (New York, N.Y.), 2000-12, Vol.49 (12), p.2196-2200

2000

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Paternal transmission of the very common class I INS VNTR alleles predisposes to childhood obesity

Nature genetics, 2001-09, Vol.29 (1), p.96-99

2001

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The human MC4R promoter: Characterization and role in obesity

Diabetes (New York, N.Y.), 2003-12, Vol.52 (12), p.2996-3000

2003

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The Common −866 G/A Polymorphism in the Promoter of Uncoupling Protein 2 Is Associated With Increased Carbohydrate and Decreased Lipid Oxidation in Juvenile Obesity

Diabetes (New York, N.Y.), 2004-01, Vol.53 (1), p.235-239

2004

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In obese and non-obese adults, the cis-regulatory rs361072 promoter variant of PIK3CB is associated with insulin resistance not with type 2 diabetes

Molecular genetics and metabolism, 2009-03, Vol.96 (3), p.129-132

2009

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Genetic Study of the Melanin-Concentrating Hormone Receptor 2 in Childhood and Adulthood Severe Obesity

The journal of clinical endocrinology and metabolism, 2007-11, Vol.92 (11), p.4403-4409

2007

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Increased Insulin Resistance in Obese Children Who Have Both 972 IRS-1 and 1057 IRS-2 Polymorphisms

Diabetes (New York, N.Y.), 2002-12, Vol.51 (suppl 3), p.S304-S307

2002

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Long-Term Disease Prevention with a Gene Therapy Targeting Oligodendrocytes in a Mouse Model of Adrenomyeloneuropathy

Human gene therapy, 2022-09, Vol.33 (17-18), p.936-949

2022

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Variation in FTO contributes to childhood obesity and severe adult obesity

Nature genetics, 2007-06, Vol.39 (6), p.724-726

2007

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Modulation of signaling through GPCR-cAMP-PKA pathways by PDE4 depends on stimulus intensity: Possible implications for the pathogenesis of acrodysostosis without hormone resistance

Molecular and cellular endocrinology, 2017-02, Vol.442, p.1-11

2017

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Knock‐In of the Recurrent R368X Mutation of PRKAR1A that Represses cAMP‐Dependent Protein Kinase A Activation: A Model of Type 1 Acrodysostosis

Journal of bone and mineral research, 2017-02, Vol.32 (2), p.333-346

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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Endocrine Manifestations of the Rapid-Onset Obesity with Hypoventilation, Hypothalamic, Autonomic Dysregulation, and Neural Tumor Syndrome in Childhood

The journal of clinical endocrinology and metabolism, 2008-10, Vol.93 (10), p.3971-3980

2008

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A Homozygous Null Mutation Delineates the Role of the Melanocortin-4 Receptor in Humans

The journal of clinical endocrinology and metabolism, 2004-05, Vol.89 (5), p.2028-2032

2004

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A single-nucleotide polymorphism in the p110beta gene promoter is associated with partial protection from insulin resistance in severely obese adolescents

The journal of clinical endocrinology and metabolism, 2008-01, Vol.93 (1), p.212-215

2008

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Early changes in postprandial insulin secretion, not in insulin sensitivity, characterize juvenile obesity

Diabetes (New York, N.Y.), 1994-05, Vol.43 (5), p.696-702

1994

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Akt Phosphorylation in Lymphocytes Provides an Index of in Vitro Insulin-Like Growth Factor I Sensitivity Associated with Growth Hormone-Induced Growth

The journal of clinical endocrinology and metabolism, 2008-04, Vol.93 (4), p.1458-1463

2008

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In vivo resistance of lipolysis to epinephrine. A new feature of childhood onset obesity

The Journal of clinical investigation, 1997-06, Vol.99 (11), p.2568-2573

1997

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Methylation and Transcripts Expression at the Imprinted GNAS Locus in Human Embryonic and Induced Pluripotent Stem Cells and Their Derivatives

Mutations causing acrodysostosis-2 facilitate activation of phosphodiesterase 4D3

Functional Characterization of PRKAR1A Mutations Reveals a Unique Molecular Mechanism Causing Acrodysostosis but Multiple Mechanisms Causing Carney Complex

Association Analysis Indicates That a Variant GATA-Binding Site in the PIK3CB Promoter Is a Cis-Acting Expression Quantitative Trait Locus for This Gene and Attenuates Insulin Resistance in Obese Children

Fetal growth is associated with CpG methylation in the P2 promoter of the IGF1 gene

The insulin gene VNTR is associated with fasting insulin levels and development of juvenile obesity

A common promoter variant of the leptin gene is associated with changes in the relationship between serum leptin and fat mass in obese girls

Paternal transmission of the very common class I INS VNTR alleles predisposes to childhood obesity

The human MC4R promoter: Characterization and role in obesity

The Common −866 G/A Polymorphism in the Promoter of Uncoupling Protein 2 Is Associated With Increased Carbohydrate and Decreased Lipid Oxidation in Juvenile Obesity

In obese and non-obese adults, the cis-regulatory rs361072 promoter variant of PIK3CB is associated with insulin resistance not with type 2 diabetes

Genetic Study of the Melanin-Concentrating Hormone Receptor 2 in Childhood and Adulthood Severe Obesity

Increased Insulin Resistance in Obese Children Who Have Both 972 IRS-1 and 1057 IRS-2 Polymorphisms

Long-Term Disease Prevention with a Gene Therapy Targeting Oligodendrocytes in a Mouse Model of Adrenomyeloneuropathy

Variation in FTO contributes to childhood obesity and severe adult obesity

Modulation of signaling through GPCR-cAMP-PKA pathways by PDE4 depends on stimulus intensity: Possible implications for the pathogenesis of acrodysostosis without hormone resistance

Knock‐In of the Recurrent R368X Mutation of PRKAR1A that Represses cAMP‐Dependent Protein Kinase A Activation: A Model of Type 1 Acrodysostosis

Common nonsynonymous variants in PCSK1 confer risk of obesity

Molecular Genetics of Human Obesity-Associated MC4R Mutations

Endocrine Manifestations of the Rapid-Onset Obesity with Hypoventilation, Hypothalamic, Autonomic Dysregulation, and Neural Tumor Syndrome in Childhood

A Homozygous Null Mutation Delineates the Role of the Melanocortin-4 Receptor in Humans

A single-nucleotide polymorphism in the p110beta gene promoter is associated with partial protection from insulin resistance in severely obese adolescents

Early changes in postprandial insulin secretion, not in insulin sensitivity, characterize juvenile obesity

Akt Phosphorylation in Lymphocytes Provides an Index of in Vitro Insulin-Like Growth Factor I Sensitivity Associated with Growth Hormone-Induced Growth

In vivo resistance of lipolysis to epinephrine. A new feature of childhood onset obesity

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