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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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Differentially methylated CpGs in response to growth hormone administration in children with idiopathic short stature

Clinical epigenetics, 2022-05, Vol.14 (1), p.65-65, Article 65

2022

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

Clinical epigenetics, 2018-06, Vol.10 (1), p.74-74, Article 74

2018

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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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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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Correction of a knock-in mouse model of acrodysostosis with gene therapy using a rAAV9-CAG-human PRKAR1A vector

Gene therapy, 2022-08, Vol.29 (7-8), p.441-448

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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SAT-039 GNAS-miRNAs Are Likely Involved in the Phenotype of Patients with Pseudohypoparathyroidism 1B/iPPSD3

Journal of the Endocrine Society, 2019-04, Vol.3 (Supplement_1)

2019

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The Human MC4R Promoter

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

2003

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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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A Single-Nucleotide Polymorphism in the p110β 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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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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Heterogeneity of class I INS VNTR allele association with insulin secretion in obese children

Physiological genomics, 2006-05, Vol.25 (3), p.480-484

2006

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INS VNTR is a QTL for the insulin response to oral glucose in obese children

Physiological genomics, 2004-02, Vol.16 (3), p.309-313

2004

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Genetic study of the melanin-concentrating hormone receptor 2 in childhood and adulthood severe obesity: Absence of association of MCHR2 gene with human obesity

The journal of clinical endocrinology and metabolism, 2007-11, Vol.92 (11), p.4403-9

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 (12), p.S304

2002

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Growth hormone stimulates interferon regulatory factor-1 gene expression in the liver

Endocrinology (Philadelphia), 1998-03, Vol.139 (3), p.859-866

1998

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Growth Hormone Stimulates Interferon Regulatory Factor-1 Gene Expression in the Liver1

Endocrinology (Philadelphia), 1998-03, Vol.139 (3), p.859-866

1998

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

Differentially methylated CpGs in response to growth hormone administration in children with idiopathic short stature

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

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

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

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

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

Correction of a knock-in mouse model of acrodysostosis with gene therapy using a rAAV9-CAG-human PRKAR1A vector

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

Molecular Genetics of Human Obesity-Associated MC4R Mutations

SAT-039 GNAS-miRNAs Are Likely Involved in the Phenotype of Patients with Pseudohypoparathyroidism 1B/iPPSD3

The Human MC4R Promoter

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

A Single-Nucleotide Polymorphism in the p110β Gene Promoter Is Associated with Partial Protection from Insulin Resistance in Severely Obese Adolescents

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

Heterogeneity of class I INS VNTR allele association with insulin secretion in obese children

INS VNTR is a QTL for the insulin response to oral glucose in obese children

Genetic study of the melanin-concentrating hormone receptor 2 in childhood and adulthood severe obesity: Absence of association of MCHR2 gene with human obesity

Increased insulin resistance in obese children who have both 972 IRS-1 and 1057 IRS-2 polymorphisms

Growth hormone stimulates interferon regulatory factor-1 gene expression in the liver

Growth Hormone Stimulates Interferon Regulatory Factor-1 Gene Expression in the Liver1

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