about
MRAP and MRAP2 are bidirectional regulators of the melanocortin receptor familyMutations in NNT encoding nicotinamide nucleotide transhydrogenase cause familial glucocorticoid deficiencyInherited ACTH insensitivity illuminates the mechanisms of ACTH actionIGSF10 mutations dysregulate gonadotropin-releasing hormone neuronal migration resulting in delayed puberty.Three-Dimensional Model of Human Nicotinamide Nucleotide Transhydrogenase (NNT) and Sequence-Structure Analysis of its Disease-Causing Variations.Isolated Addison's disease is unlikely to be caused by mutations in MC2R, MRAP or STAR, three genes responsible for familial glucocorticoid deficiencyOxidative stress and adrenocortical insufficiency.In-frame seven amino-acid duplication in AIP arose over the last 3000 years, disrupts protein interaction and stability and is associated with gigantismPredictive fluorescent amplified-fragment length polymorphism analysis of Escherichia coli: high-resolution typing method with phylogenetic significancePseudoexon activation as a novel mechanism for disease resulting in atypical growth-hormone insensitivityThe molecular pathogenesis of ACTH insensitivity syndromes.Thioredoxin Reductase 2 (TXNRD2) mutation associated with familial glucocorticoid deficiency (FGD).Growth hormone insensitivity: pathophysiology, diagnosis, clinical variation and future perspectives.Idiopathic short stature: will genetics influence the choice between GH and IGF-I therapy?NNT pseudoexon activation as a novel mechanism for disease in two siblings with familial glucocorticoid deficiency.Severe loss-of-function mutations in the adrenocorticotropin receptor (ACTHR, MC2R) can be found in patients diagnosed with salt-losing adrenal hypoplasia.MCM4 mutation causes adrenal failure, short stature, and natural killer cell deficiency in humans.Genetic Defects in the Growth Hormone-IGF-I Axis Causing Growth Hormone Insensitivity and Impaired Linear GrowthAn atypical case of familial glucocorticoid deficiency without pigmentation caused by coexistent homozygous mutations in MC2R (T152K) and MC1R (R160W).Genetics of ACTH insensitivity syndromes.Mechanisms of disease: the adrenocorticotropin receptor and disease.Phenotypic aspects of growth hormone- and IGF-I-resistant syndromes.The genetics of familial glucocorticoid deficiency.Deficiency of ALADIN impairs redox homeostasis in human adrenal cells and inhibits steroidogenesis.Missense mutations in the melanocortin 2 receptor accessory protein that lead to late onset familial glucocorticoid deficiency type 2.Evidence for a continuum of genetic, phenotypic, and biochemical abnormalities in children with growth hormone insensitivity.Adrenocortical development, maintenance, and disease.Repair of aberrant splicing in growth hormone receptor by antisense oligonucleotides targeting the splice sites of a pseudoexon.Primary Adrenocortical Insufficiency Case Series: Genetic Etiologies More Common than Expected.Neonatal presentation of familial glucocorticoid deficiency resulting from a novel splice mutation in the melanocortin 2 receptor accessory protein.Detection of rpoB mutations in Mycobacterium tuberculosis by biprobe analysis.Identification and characterisation of a novel GHR defect disrupting the polypyrimidine tract and resulting in GH insensitivity.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.Whole-Exome Sequencing in the Differential Diagnosis of Primary Adrenal Insufficiency in ChildrenFamilial glucocorticoid deficiency: a diagnostic challenge during acute illness.NNT is a key regulator of adrenal redox homeostasis and steroidogenesis in male mice.Genetic characterisation of a cohort of children clinically labelled as GH or IGF1 insensitive: diagnostic value of serum IGF1 and height at presentation.Heterogeneity of the growth phenotype and birth size in acid-labile subunit (ALS) deficiency.Whole-exome sequencing gives additional benefits compared to candidate gene sequencing in the molecular diagnosis of children with growth hormone or IGF-1 insensitivity.Reduced expression of the growth hormone and type 1 insulin-like growth factor receptors in human somatotroph tumours and an analysis of possible mutations of the growth hormone receptor.
P50
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P50
description
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Lou Metherell
@ast
Lou Metherell
@en
Lou Metherell
@es
Lou Metherell
@nl
type
label
Lou Metherell
@ast
Lou Metherell
@en
Lou Metherell
@es
Lou Metherell
@nl
prefLabel
Lou Metherell
@ast
Lou Metherell
@en
Lou Metherell
@es
Lou Metherell
@nl
P1053
E-8695-2012
P106
P2798
P31
P496
0000-0002-0530-3524