Detalles de la búsqueda
1.
Correction of a knock-in mouse model of acrodysostosis with gene therapy using a rAAV9-CAG-human PRKAR1A vector.
Gene Ther;
29(7-8): 441-448, 2022 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-34599290
2.
Mutations causing acrodysostosis-2 facilitate activation of phosphodiesterase 4D3.
Hum Mol Genet;
26(20): 3883-3894, 2017 10 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-29016851
3.
Functional Characterization of PRKAR1A Mutations Reveals a Unique Molecular Mechanism Causing Acrodysostosis but Multiple Mechanisms Causing Carney Complex.
J Biol Chem;
290(46): 27816-28, 2015 Nov 13.
Artículo
en Inglés
| MEDLINE | ID: mdl-26405036
4.
Variation in FTO contributes to childhood obesity and severe adult obesity.
Nat Genet;
39(6): 724-6, 2007 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-17496892
5.
Long-Term Disease Prevention with a Gene Therapy Targeting Oligodendrocytes in a Mouse Model of Adrenomyeloneuropathy.
Hum Gene Ther;
33(17-18): 936-949, 2022 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-35166123
6.
Differentially methylated CpGs in response to growth hormone administration in children with idiopathic short stature.
Clin Epigenetics;
14(1): 65, 2022 05 18.
Artículo
en Inglés
| MEDLINE | ID: mdl-35585611
7.
In obese and non-obese adults, the cis-regulatory rs361072 promoter variant of PIK3CB is associated with insulin resistance not with type 2 diabetes.
Mol Genet Metab;
96(3): 129-32, 2009 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-19097921
8.
Endocrine manifestations of the rapid-onset obesity with hypoventilation, hypothalamic, autonomic dysregulation, and neural tumor syndrome in childhood.
J Clin Endocrinol Metab;
93(10): 3971-80, 2008 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-18628522
9.
A single-nucleotide polymorphism in the p110beta gene promoter is associated with partial protection from insulin resistance in severely obese adolescents.
J Clin Endocrinol Metab;
93(1): 212-5, 2008 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-17971428
10.
Akt phosphorylation in lymphocytes provides an index of in vitro insulin-like growth factor I sensitivity associated with growth hormone-induced growth.
J Clin Endocrinol Metab;
93(4): 1458-63, 2008 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-18252783
11.
Fetal growth is associated with CpG methylation in the P2 promoter of the IGF1 gene.
Clin Epigenetics;
10: 57, 2018.
Artículo
en Inglés
| MEDLINE | ID: mdl-29713392
12.
Correction to: Fetal growth is associated with CpG methylation in the P2 promoter of the IGF1 gene.
Clin Epigenetics;
10: 74, 2018.
Artículo
en Inglés
| MEDLINE | ID: mdl-29991968
13.
Genetic study of the melanin-concentrating hormone receptor 2 in childhood and adulthood severe obesity.
J Clin Endocrinol Metab;
92(11): 4403-9, 2007 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-17698913
14.
Modulation of signaling through GPCR-cAMP-PKA pathways by PDE4 depends on stimulus intensity: Possible implications for the pathogenesis of acrodysostosis without hormone resistance.
Mol Cell Endocrinol;
442: 1-11, 2017 02 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-27908835
15.
Knock-In of the Recurrent R368X Mutation of PRKAR1A that Represses cAMP-Dependent Protein Kinase A Activation: A Model of Type 1 Acrodysostosis.
J Bone Miner Res;
32(2): 333-346, 2017 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-27589370
16.
Heterogeneity of class I INS VNTR allele association with insulin secretion in obese children.
Physiol Genomics;
25(3): 480-4, 2006 May 16.
Artículo
en Inglés
| MEDLINE | ID: mdl-16569775
17.
Increased insulin resistance in obese children who have both 972 IRS-1 and 1057 IRS-2 polymorphisms.
Diabetes;
51 Suppl 3: S304-7, 2002 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-12475767
18.
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;
53(1): 235-9, 2004 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-14693721
19.
The human MC4R promoter: characterization and role in obesity.
Diabetes;
52(12): 2996-3000, 2003 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-14633862
20.
INS VNTR is a QTL for the insulin response to oral glucose in obese children.
Physiol Genomics;
16(3): 309-13, 2004 Feb 13.
Artículo
en Inglés
| MEDLINE | ID: mdl-14657411