Lista de obras -

A homozygous null mutation delineates the role of the melanocortin-4 receptor in humans.

artículo científico publicado en 2004

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

artículo científico publicado en 2007

Acrodysostosis syndromes

artículo científico publicado en 2012

Acute nuclear actions of growth hormone (GH): cycloheximide inhibits inducible activator protein-1 activity, but does not block GH-regulated signal transducer and activator of transcription activation or gene expression

artículo científico publicado en 1996

Akt phosphorylation in lymphocytes provides an index of in vitro insulin-like growth factor I sensitivity associated with growth hormone-induced growth

artículo científico publicado en 2008

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

artículo científico publicado en 2007

Common nonsynonymous variants in PCSK1 confer risk of obesity

article

Contrasting acute in vivo nuclear actions of growth hormone and prolactin

scientific article published on 01 August 1996

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

artículo científico publicado en 2018

Endocrine manifestations of the rapid-onset obesity with hypoventilation, hypothalamic, autonomic dysregulation, and neural tumor syndrome in childhood

artículo científico publicado en 2008

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

artículo científico publicado en 2018

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

artículo científico publicado en 2015

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

article by Maya Ghoussaini et al published November 2007 in The Journal of Clinical Endocrinology and Metabolism

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

scientific journal article

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

artículo científico publicado en 2006

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

artículo científico publicado en 2004

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

scholarly article by Karine Clément et al published March 2009 in Molecular Genetics and Metabolism

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

artículo científico publicado en 2016

Methylation and transcripts expression at the imprinted GNAS locus in human embryonic and induced pluripotent stem cells and their derivatives

artículo científico publicado en 2014

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

artículo científico publicado en 2016

Mutations causing acrodysostosis-2 facilitate activation of phosphodiesterase 4D3.

artículo científico publicado en 2017

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

scientific article published on 01 September 2001

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.

artículo científico publicado en 2004

The human MC4R promoter: characterization and role in obesity

artículo científico publicado en 2003

Variation in FTO contributes to childhood obesity and severe adult obesity

artículo científico publicado en 2007

Lista de obras de

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

Acrodysostosis syndromes

Acute nuclear actions of growth hormone (GH): cycloheximide inhibits inducible activator protein-1 activity, but does not block GH-regulated signal transducer and activator of transcription activation or gene expression

Akt phosphorylation in lymphocytes provides an index of in vitro insulin-like growth factor I sensitivity associated with growth hormone-induced growth

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

Common nonsynonymous variants in PCSK1 confer risk of obesity

Contrasting acute in vivo nuclear actions of growth hormone and prolactin

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

Endocrine manifestations of the rapid-onset obesity with hypoventilation, hypothalamic, autonomic dysregulation, and neural tumor syndrome in childhood

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

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

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

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

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.

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

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

Methylation and transcripts expression at the imprinted GNAS locus in human embryonic and induced pluripotent stem cells and their derivatives

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

Mutations causing acrodysostosis-2 facilitate activation of phosphodiesterase 4D3.

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

The human MC4R promoter: characterization and role in obesity

Variation in FTO contributes to childhood obesity and severe adult obesity