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NNT is a key regulator of adrenal redox homeostasis and steroidogenesis in male mice

Journal of endocrinology, 2018-01, Vol.236 (1), p.13-28

2018

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Sphingosine-1-phosphate lyase (SGPL1) deficiency is associated with mitochondrial dysfunction

The Journal of steroid biochemistry and molecular biology, 2020-09, Vol.202, p.105730-105730, Article 105730

2020

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Oxidative stress and adrenocortical insufficiency

Journal of endocrinology, 2014-06, Vol.221 (3), p.R63-R73

2014

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Deficiency of ALADIN Impairs Redox Homeostasis in Human Adrenal Cells and Inhibits Steroidogenesis

Endocrinology (Philadelphia), 2013-09, Vol.154 (9), p.3209-3218

2013

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Choice of gDNA isolation method has a significant impact on average murine Telomere Length estimates

Preparative biochemistry & biotechnology, 2024-07, Vol.54 (6), p.788-795

2024

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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

The journal of clinical endocrinology and metabolism, 2008-12, Vol.93 (12), p.4948-4954

2008

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An Intronic Growth Hormone Receptor Mutation Causing Activation of a Pseudoexon Is Associated with a Broad Spectrum of Growth Hormone Insensitivity Phenotypes

The journal of clinical endocrinology and metabolism, 2007-02, Vol.92 (2), p.655-659

2007

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Missense Mutations in the Melanocortin 2 Receptor Accessory Protein That Lead to Late Onset Familial Glucocorticoid Deficiency Type 2

The journal of clinical endocrinology and metabolism, 2010-07, Vol.95 (7), p.3497-3501

2010

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TPIT mutations are associated with early-onset, but not late-onset isolated ACTH deficiency

European journal of endocrinology, 2004-10, Vol.151 (4), p.463-465

2004

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Heterogeneity of the growth phenotype and birth size in acid-labile subunit (ALS) deficiency

Journal of endocrinological investigation, 2015-04, Vol.38 (4), p.407-412

2015

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Identification and characterisation of a novel GHR defect disrupting the polypyrimidine tract and resulting in GH insensitivity

European journal of endocrinology, 2010-01, Vol.162 (1), p.37-42

2010

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Neonatal presentation of familial glucocorticoid deficiency resulting from a novel splice mutation in the melanocortin 2 receptor accessory protein

European journal of endocrinology, 2011-12, Vol.165 (6), p.987-991

2011

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Familial glucocorticoid deficiency: advances in the molecular understanding of ACTH action

Hormone research, 2008-01, Vol.69 (2), p.75-82

2008

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A 36 residues insertion in the dimerization domain of the growth hormone receptor results in defective trafficking rather than impaired signaling

Journal of endocrinology, 2006-02, Vol.188 (2), p.251-261

2006

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Isolated Addison's disease is unlikely to be caused by mutations in MC2R, MRAP or STAR, three genes responsible for familial glucocorticoid deficiency

European journal of endocrinology, 2010-02, Vol.162 (2), p.357-359

2010

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Familial glucocorticoid deficiency: a diagnostic challenge during acute illness

European journal of pediatrics, 2013-10, Vol.172 (10), p.1407-1410

2013

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Acid-Labile Subunit Deficiency and Growth Failure: Description of Two Novel Cases

Hormone research in paediatrics, 2010-01, Vol.73 (5), p.328-334

2010

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Clinical and biological phenotype of a patient with familial glucocorticoid deficiency type 2 caused by a mutation of melanocortin 2 receptor accessory protein

European journal of endocrinology, 2007-10, Vol.157 (4), p.539-542

2007

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Familial glucocorticoid deficiency: a diagnostic challenge during acute illness

European journal of pediatrics, 2013-10, Vol.172 (10), p.1407-1410

2013

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Pseudoexon Activation as a Novel Mechanism for Disease Resulting in Atypical Growth-Hormone Insensitivity

American journal of human genetics, 2001-09, Vol.69 (3), p.641-646

2001

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d3-GHR genotype does not explain heterogeneity in GH responsiveness in hypopituitary adults

Clinical endocrinology (Oxford), 2010-06, Vol.72 (6), p.807-813

2010

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Detection of rpoB mutations in Mycobacterium tuberculosis by Biprobe analysis

Journal of clinical microbiology, 2001-09, Vol.39 (9), p.3350-3352

2001

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Missense Mutations in the Melanocortin 2 Receptor Accessory Protein That Lead to Late Onset Familial Glucocorticoid Deficiency Type 2

Endocrine reviews, 2010-06, Vol.31 (3), p.396-397

2010

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Missense Mutations in the Melanocortin 2 Receptor Accessory Protein That Lead to Late Onset Familial Glucocorticoid Deficiency Type 2

Endocrinology (Philadelphia), 2010-06, Vol.151 (6), p.2957-2958

2010

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Growth Hormone (GH) Insensitivity Syndrome due to a GH Receptor Truncated after Box1, Resulting in Isolated Failure of STAT 5 Signal Transduction

The journal of clinical endocrinology and metabolism, 2004-03, Vol.89 (3), p.1259-1266

2004

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Vertebrates: Endocrinology
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NNT is a key regulator of adrenal redox homeostasis and steroidogenesis in male mice

Sphingosine-1-phosphate lyase (SGPL1) deficiency is associated with mitochondrial dysfunction

Oxidative stress and adrenocortical insufficiency

Deficiency of ALADIN Impairs Redox Homeostasis in Human Adrenal Cells and Inhibits Steroidogenesis

Choice of gDNA isolation method has a significant impact on average murine Telomere Length estimates

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

An Intronic Growth Hormone Receptor Mutation Causing Activation of a Pseudoexon Is Associated with a Broad Spectrum of Growth Hormone Insensitivity Phenotypes

Missense Mutations in the Melanocortin 2 Receptor Accessory Protein That Lead to Late Onset Familial Glucocorticoid Deficiency Type 2

TPIT mutations are associated with early-onset, but not late-onset isolated ACTH deficiency

Heterogeneity of the growth phenotype and birth size in acid-labile subunit (ALS) deficiency

Identification and characterisation of a novel GHR defect disrupting the polypyrimidine tract and resulting in GH insensitivity

Neonatal presentation of familial glucocorticoid deficiency resulting from a novel splice mutation in the melanocortin 2 receptor accessory protein

Familial glucocorticoid deficiency: advances in the molecular understanding of ACTH action

A 36 residues insertion in the dimerization domain of the growth hormone receptor results in defective trafficking rather than impaired signaling

Isolated Addison's disease is unlikely to be caused by mutations in MC2R, MRAP or STAR, three genes responsible for familial glucocorticoid deficiency

Familial glucocorticoid deficiency: a diagnostic challenge during acute illness

Acid-Labile Subunit Deficiency and Growth Failure: Description of Two Novel Cases

Clinical and biological phenotype of a patient with familial glucocorticoid deficiency type 2 caused by a mutation of melanocortin 2 receptor accessory protein

Familial glucocorticoid deficiency: a diagnostic challenge during acute illness

Pseudoexon Activation as a Novel Mechanism for Disease Resulting in Atypical Growth-Hormone Insensitivity

d3-GHR genotype does not explain heterogeneity in GH responsiveness in hypopituitary adults

Detection of rpoB mutations in Mycobacterium tuberculosis by Biprobe analysis

Missense Mutations in the Melanocortin 2 Receptor Accessory Protein That Lead to Late Onset Familial Glucocorticoid Deficiency Type 2

Missense Mutations in the Melanocortin 2 Receptor Accessory Protein That Lead to Late Onset Familial Glucocorticoid Deficiency Type 2

Growth Hormone (GH) Insensitivity Syndrome due to a GH Receptor Truncated after Box1, Resulting in Isolated Failure of STAT 5 Signal Transduction

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