Associated Papers
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
The Genetic Perspective of Familial Glucocorticoid Deficiency: In Silico Analysis of Two Novel Variants.
Heshmatzad K et al.
International Journal of Endocrinology, 2020
Novel Melanocortin 2 Receptor Variant in a Chinese Infant With Familial Glucocorticoid Deficiency Type 1, Case Report and Review of Literature.
Abuduxikuer K et al.
Frontiers in Endocrinology, 2019
A rare genetic disorder causing persistent severe neonatal hypoglycaemia the diagnostic workup.
Francescato G et al.
Bmj Case Reports, 2012
Phenotypic characteristics of familial glucocorticoid deficiency (FGD) type 1 and 2.
Chung TT et al.
Clinical Endocrinology, 2010
The majority of adrenocorticotropin receptor (melanocortin 2 receptor) mutations found in familial glucocorticoid deficiency type 1 lead to defective trafficking of the receptor to the cell surface.
Chung TT et al.
The Journal of Clinical Endocrinology and Metabolism, 2008
Familial glucocorticoid deficiency: advances in the molecular understanding of ACTH action.
Chan LF et al.
Hormone Research, 2008
G protein-coupled receptors disrupted in human genetic disease.
Thompson MD et al.
Methods in Molecular Biology (clifton, N.j.), 2008
Adrenocorticotropin resistance syndromes.
Cooray SN et al.
Endocrine Development, 2008
Inactivating mutations of G protein-coupled receptors and diseases: structure-function insights and therapeutic implications.
Tao YX
Pharmacology & Therapeutics, 2006
Gene polymorphisms and their effects in the melanocortin system.
Carroll L et al.
Peptides, 2005
A novel presentation of familial glucocorticoid deficiency (FGD) and current literature review.
Selva KA et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2004
Clinical, genetic, and functional characterization of adrenocorticotropin receptor mutations using a novel receptor assay.
Flück CE et al.
The Journal of Clinical Endocrinology and Metabolism, 2002
Functional relationships between three novel homozygous mutations in the ACTH receptor gene and familial glucocorticoid deficiency.
Penhoat A et al.
Journal of Molecular Medicine (berlin, Germany), 2002
Mutations of the ACTH receptor gene in a new family with isolated glucocorticoid deficiency.
Tsigos C et al.
Molecular Genetics and Metabolism, 2000
Genetic heterogeneity of adrenocorticotropin (ACTH) resistance syndromes: identification of a novel mutation of the ACTH receptor gene in hereditary glucocorticoid deficiency.
Wu SM et al.
Molecular Genetics and Metabolism, 1998
Familial glucocorticoid deficiency: one syndrome, but more than one gene.
Clark AJ et al.
Journal of Molecular Medicine (berlin, Germany), 1997
Isolated glucocorticoid deficiency and ACTH receptor mutations.
Tsigos C
Archives of Medical Research, 0
[Pharmacological chaperones: a potential therapeutic treatment for conformational diseases].
Mendre C et al.
Medecine Sciences : M/s, 0