List of works - Lou Metherell

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

scientific article published on 01 February 2006

A Sphingosine-1-Phosphate Lyase Mutation Associated With Congenital Nephrotic Syndrome and Multiple Endocrinopathy

scientific article published on 08 April 2020

A novel GHR pseudoexon mutation causing frameshift and severe postnatal growth failure

scholarly article

A novel homozygous mutation of the IGFALS gene in a female adolescent: indirect evidence for a contributing role of the circulating IGF-I pool in the pubertal growth spurt.

scientific article published on 6 May 2014

A second GH Receptor pseudoexon mutation causing frameshift and severe postnatal growth failure

scholarly article

ACTH resistance: genes and mechanisms

scientific article published on February 2013

ACTH signalling and adrenal development: lessons from mouse models

scientific article published on 01 July 2019

Accessory proteins are vital for the functional expression of certain G protein-coupled receptors

scientific article published on 19 October 2008

Acid-labile subunit deficiency and growth failure: description of two novel cases

scientific article

Adrenocortical development, maintenance, and disease.

scientific article published on January 2013

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

scientific article published on 05 December 2006

An atypical case of familial glucocorticoid deficiency without pigmentation caused by coexistent homozygous mutations in MC2R (T152K) and MC1R (R160W).

scientific article

Can novel stem cell models help unpick the pathogenesis of the Triple A syndrome?

scholarly article

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

scientific article published on 01 October 2007

Deficiency of ALADIN impairs redox homeostasis in human adrenal cells and inhibits steroidogenesis.

scientific article published on 03 July 2013

Detection of rpoB mutations in Mycobacterium tuberculosis by biprobe analysis.

scientific article published on September 2001

Diagnostic and therapeutic advances in growth hormone insensitivity

scientific article

Dominant-negative STAT5B mutations cause growth hormone insensitivity with short stature and mild immune dysregulation.

scientific article

Effects of melanocortins on adrenal gland physiology

scientific article published on 03 January 2011

Endocrine assessment, molecular characterization and treatment of growth hormone insensitivity disorders

scientific article published on July 2006

Evidence for a continuum of genetic, phenotypic, and biochemical abnormalities in children with growth hormone insensitivity.

scientific article published on 27 April 2011

Familial glucocorticoid deficiency: New genes and mechanisms

scientific article published on 29 December 2012

Familial glucocorticoid deficiency: a diagnostic challenge during acute illness.

scientific article published on 26 May 2013

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

scientific article published on 05 December 2007

Familial isolated primary pigmented nodular adrenocortical disease associated with a novel low penetrance PRKAR1A gene splice site mutation.

scientific article published on 9 February 2010

Functional consequence of a novel Y129C mutation in a patient with two contradictory melanocortin-2-receptor mutations

scientific article

GHR gene transcript heterogeneity may explain phenotypic variability in GHR pseudoexon (6Ψ) patients

scientific article published on 01 February 2020

Genetic Analysis of Pediatric Primary Adrenal Insufficiency of Unknown Etiology: 25 Years' Experience in the UK

scientific article published on 11 May 2021

Genetic Defects in the Growth Hormone-IGF-I Axis Causing Growth Hormone Insensitivity and Impaired Linear Growth

scientific article

Genetic characterisation of a cohort of children clinically labelled as GH or IGF1 insensitive: diagnostic value of serum IGF1 and height at presentation

scientific article published on 19 November 2014

Genetics of ACTH insensitivity syndromes.

scientific article

Growth hormone (GH) insensitivity syndrome due to a GH receptor truncated after Box1, resulting in isolated failure of STAT 5 signal transduction

scientific article published in March 2004

Growth hormone insensitivity and severe short stature in siblings: a novel mutation at the exon 13-intron 13 junction of the STAT5b gene

scientific article

Growth hormone insensitivity: pathophysiology, diagnosis, clinical variation and future perspectives.

scientific article

HS6ST1 Insufficiency Causes Self-Limited Delayed Puberty in Contrast With Other GnRH Deficiency Genes.

scientific article published in September 2018

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

scientific article published on 29 October 2014

Homozygous nonsense and frameshift mutations of the ACTH receptor in children with familial glucocorticoid deficiency (FGD) are not associated with long-term mineralocorticoid deficiency

scientific article published on August 2009

IGFALS gene dosage effects on serum IGF-I and glucose metabolism, body composition, bone growth in length and width, and the pharmacokinetics of recombinant human IGF-I administration

scientific article published on 13 January 2014

IGSF10 mutations dysregulate gonadotropin-releasing hormone neuronal migration resulting in delayed puberty

scientific article

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

scientific article published on 7 October 2009

Idiopathic short stature: will genetics influence the choice between GH and IGF-I therapy?

scientific article

In-frame seven amino-acid duplication in AIP arose over the last 3000 years, disrupts protein interaction and stability and is associated with gigantism

scientific article

Inherited ACTH insensitivity illuminates the mechanisms of ACTH action

scientific article

Insights From Long-term Follow-up of a Girl With Adrenal Insufficiency and Sphingosine-1-Phosphate Lyase Deficiency

publication published on 11 February 2022

Investigation of an outbreak of multidrug resistant tuberculosis among renal patients using rpo B gene sequencing and IS6110 inverse PCR

article

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

scientific article

Isolated glucocorticoid deficiency: Genetic causes and animal models

scientific article published on 25 February 2019

Long-term outcome of partial P450 side-chain cleavage enzyme deficiency in three brothers: the importance of early diagnosis

scientific article published on 01 March 2020

MCM4 mutation causes adrenal failure, short stature, and natural killer cell deficiency in humans.

scientific article published on 22 February 2012

MRAP and MRAP2 are bidirectional regulators of the melanocortin receptor family

scientific article

MRAP deficiency impairs adrenal progenitor cell differentiation and gland zonation

scientific article published on 07 June 2018

Mechanisms of disease: the adrenocorticotropin receptor and disease.

scientific article published on May 2006

Missense mutations in the melanocortin 2 receptor accessory protein that lead to late onset familial glucocorticoid deficiency type 2.

scientific article published on 28 April 2010

Modeling Congenital Adrenal Hyperplasia and Testing Interventions for Adrenal Insufficiency Using Donor-Specific Reprogrammed Cells.

scientific article published in January 2018

Mutations in MRAP, encoding a new interacting partner of the ACTH receptor, cause familial glucocorticoid deficiency type 2

scientific article

Mutations in NNT encoding nicotinamide nucleotide transhydrogenase cause familial glucocorticoid deficiency

scientific article

Mutations in a novel gene, encoding a single transmembrane domain protein are associated with familial glucocorticoid deficiency type 2.

scientific article published in November 2004

Mylk3 null C57BL/6N mice develop cardiomyopathy, whereas Nnt null C57BL/6J mice do not

scientific article published on 25 March 2020

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

scientific article published on 18 October 2017

NNT pseudoexon activation as a novel mechanism for disease in two siblings with familial glucocorticoid deficiency

scientific article

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

scientific article published on 27 September 2011

Nicotinamide Nucleotide Transhydrogenase as a Novel Treatment Target in Adrenocortical Carcinoma

scientific article published in August 2018

Nonclassic lipoid congenital adrenal hyperplasia masquerading as familial glucocorticoid deficiency

scientific article

Nonclassical GH Insensitivity: Characterization of Mild Abnormalities of GH Action

scientific article published on 01 April 2019

Nosocomial Acquisition of Burkholderia gladioli in patients with cystic fibrosis

scientific article published on 01 July 1999

Novel Dominant-Negative GH Receptor Mutations Expands the Spectrum of GHI and IGF-I Deficiency.

scientific article published on 8 March 2017

Novel growth hormone receptor mutation in a Chinese patient with Laron syndrome

scientific article published on 01 February 2005

Novel polymorphisms and lack of mutations in the ACD gene in patients with ACTH resistance syndromes.

scientific article

Oxidative stress and adrenocortical insufficiency

scientific article

PCR-enzyme-linked immunosorbent assay and sequencing as an alternative to serology for M-antigen typing of Streptococcus pyogenes

scientific article published on October 1997

PCR-enzyme-linked immunosorbent assay for detection and identification of Campylobacter species: application to isolates and stool samples

scientific article

Patients with short stature and GH/IGF-1 insensitivity harbour copy number variants causing a Silver-Russell-like phenotype

scholarly article

Phenotypic aspects of growth hormone- and IGF-I-resistant syndromes.

scientific article published on 27 February 2009

Phenotypic characteristics of familial glucocorticoid deficiency (FGD) type 1 and 2

scientific article

Phenotypic spectrum and responses to recombinant human IGF1 (rhIGF1) therapy in patients with homozygous intronic pseudoexon growth hormone receptor mutation.

scientific article published on 2 March 2018

Phenotypic variability in growth hormone insensitivity

scientific article published on 01 December 2002

Predicted Benign and Synonymous Variants in CYP11A1 Cause Primary Adrenal Insufficiency Through Missplicing.

scientific article published on 30 October 2018

Predictive fluorescent amplified-fragment length polymorphism analysis of Escherichia coli: high-resolution typing method with phylogenetic significance

scientific article

Predictive modelling of fluorescent AFLP: a new approach to the molecular epidemiology of E. coli

scientific article published on 01 January 1999

Primary Adrenocortical Insufficiency Case Series: Genetic Etiologies More Common than Expected.

scientific article

Pseudoexon activation as a novel mechanism for disease resulting in atypical growth-hormone insensitivity

scientific article

Rapid, sensitive, microbial detection by gene amplification using restriction endonuclease target sequences

scientific article published in August 1997

Rare CNVs provide novel insights into the molecular basis of GH and IGF-1 insensitivity

scientific article published on 01 December 2020

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.

scientific article published in September 2003

Repair of Aberrant Splicing in Growth Hormone Receptor by Antisense Oligonucleotides Targeting the Splice Sites of a Pseudoexon

scientific article published in June 2010

Repair of aberrant splicing in growth hormone receptor by antisense oligonucleotides targeting the splice sites of a pseudoexon.

scientific article published on 28 April 2010

SGPL1 Deficiency: A Rare Cause of Primary Adrenal Insufficiency

scientific article published on 01 May 2019

Severe cortisol deficiency associated with reversible growth hormone deficiency in two infants: what is the link?

scientific article published on 13 July 2011

Severe loss-of-function mutations in the adrenocorticotropin receptor (ACTHR, MC2R) can be found in patients diagnosed with salt-losing adrenal hypoplasia.

scientific article published on February 2007

Sphingosine-1-Phosphate Lyase (SGPL1) Deficiency is Associated with Mitochondrial Dysfunction

scientific article published on 16 July 2020

Sphingosine-1-phosphate lyase mutations cause primary adrenal insufficiency and steroid-resistant nephrotic syndrome

scientific article published on 06 February 2017

Spontaneous growth hormone secretory characteristics in children with partial growth hormone insensitivity.

scientific article published in September 2002

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

scientific article published in October 2004

Tall stature in familial glucocorticoid deficiency

scientific article published on 01 October 2000

The TPIT gene mutation M86R associated with isolated adrenocorticotropin deficiency interferes with protein: protein interactions

scientific article published on 24 July 2007

The genetics of ACTH resistance syndromes

scientific article published on December 2006

The genetics of familial glucocorticoid deficiency.

scientific article published on April 2009

The lack of genotype: phenotype correlations in rare causes of primary adrenal insufficiency highlights the need for genetic testing

scientific article published in 2022

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.

scientific article published on 7 October 2008

The molecular pathogenesis of ACTH insensitivity syndromes.

scientific article

Thioredoxin Reductase 2 (TXNRD2) mutation associated with familial glucocorticoid deficiency (FGD).

scientific article

Three-Dimensional Model of Human Nicotinamide Nucleotide Transhydrogenase (NNT) and Sequence-Structure Analysis of its Disease-Causing Variations

scientific article

Whole-Exome Sequencing in the Differential Diagnosis of Primary Adrenal Insufficiency in Children

scientific article published on 5 August 2015

Whole-exome sequencing gives additional benefits compared to candidate gene sequencing in the molecular diagnosis of children with growth hormone or IGF-1 insensitivity.

scientific article published on 4 September 2017

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

scientific article published on 18 December 2009

List of works by Lou Metherell

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

A Sphingosine-1-Phosphate Lyase Mutation Associated With Congenital Nephrotic Syndrome and Multiple Endocrinopathy

A novel GHR pseudoexon mutation causing frameshift and severe postnatal growth failure

A novel homozygous mutation of the IGFALS gene in a female adolescent: indirect evidence for a contributing role of the circulating IGF-I pool in the pubertal growth spurt.

A second GH Receptor pseudoexon mutation causing frameshift and severe postnatal growth failure

ACTH resistance: genes and mechanisms

ACTH signalling and adrenal development: lessons from mouse models

Accessory proteins are vital for the functional expression of certain G protein-coupled receptors

Acid-labile subunit deficiency and growth failure: description of two novel cases

Adrenocortical development, maintenance, and disease.

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

An atypical case of familial glucocorticoid deficiency without pigmentation caused by coexistent homozygous mutations in MC2R (T152K) and MC1R (R160W).

Can novel stem cell models help unpick the pathogenesis of the Triple A syndrome?

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

Deficiency of ALADIN impairs redox homeostasis in human adrenal cells and inhibits steroidogenesis.

Detection of rpoB mutations in Mycobacterium tuberculosis by biprobe analysis.

Diagnostic and therapeutic advances in growth hormone insensitivity

Dominant-negative STAT5B mutations cause growth hormone insensitivity with short stature and mild immune dysregulation.

Effects of melanocortins on adrenal gland physiology

Endocrine assessment, molecular characterization and treatment of growth hormone insensitivity disorders

Evidence for a continuum of genetic, phenotypic, and biochemical abnormalities in children with growth hormone insensitivity.

Familial glucocorticoid deficiency: New genes and mechanisms

Familial glucocorticoid deficiency: a diagnostic challenge during acute illness.

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

Familial isolated primary pigmented nodular adrenocortical disease associated with a novel low penetrance PRKAR1A gene splice site mutation.

Functional consequence of a novel Y129C mutation in a patient with two contradictory melanocortin-2-receptor mutations

GHR gene transcript heterogeneity may explain phenotypic variability in GHR pseudoexon (6Ψ) patients

Genetic Analysis of Pediatric Primary Adrenal Insufficiency of Unknown Etiology: 25 Years' Experience in the UK

Genetic Defects in the Growth Hormone-IGF-I Axis Causing Growth Hormone Insensitivity and Impaired Linear Growth

Genetic characterisation of a cohort of children clinically labelled as GH or IGF1 insensitive: diagnostic value of serum IGF1 and height at presentation

Genetics of ACTH insensitivity syndromes.

Growth hormone (GH) insensitivity syndrome due to a GH receptor truncated after Box1, resulting in isolated failure of STAT 5 signal transduction

Growth hormone insensitivity and severe short stature in siblings: a novel mutation at the exon 13-intron 13 junction of the STAT5b gene

Growth hormone insensitivity: pathophysiology, diagnosis, clinical variation and future perspectives.

HS6ST1 Insufficiency Causes Self-Limited Delayed Puberty in Contrast With Other GnRH Deficiency Genes.

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

Homozygous nonsense and frameshift mutations of the ACTH receptor in children with familial glucocorticoid deficiency (FGD) are not associated with long-term mineralocorticoid deficiency

IGFALS gene dosage effects on serum IGF-I and glucose metabolism, body composition, bone growth in length and width, and the pharmacokinetics of recombinant human IGF-I administration

IGSF10 mutations dysregulate gonadotropin-releasing hormone neuronal migration resulting in delayed puberty

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

Idiopathic short stature: will genetics influence the choice between GH and IGF-I therapy?

In-frame seven amino-acid duplication in AIP arose over the last 3000 years, disrupts protein interaction and stability and is associated with gigantism

Inherited ACTH insensitivity illuminates the mechanisms of ACTH action

Insights From Long-term Follow-up of a Girl With Adrenal Insufficiency and Sphingosine-1-Phosphate Lyase Deficiency

Investigation of an outbreak of multidrug resistant tuberculosis among renal patients using rpo B gene sequencing and IS6110 inverse PCR

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

Isolated glucocorticoid deficiency: Genetic causes and animal models

Long-term outcome of partial P450 side-chain cleavage enzyme deficiency in three brothers: the importance of early diagnosis

MCM4 mutation causes adrenal failure, short stature, and natural killer cell deficiency in humans.

MRAP and MRAP2 are bidirectional regulators of the melanocortin receptor family

MRAP deficiency impairs adrenal progenitor cell differentiation and gland zonation

Mechanisms of disease: the adrenocorticotropin receptor and disease.

Missense mutations in the melanocortin 2 receptor accessory protein that lead to late onset familial glucocorticoid deficiency type 2.

Modeling Congenital Adrenal Hyperplasia and Testing Interventions for Adrenal Insufficiency Using Donor-Specific Reprogrammed Cells.

Mutations in MRAP, encoding a new interacting partner of the ACTH receptor, cause familial glucocorticoid deficiency type 2

Mutations in NNT encoding nicotinamide nucleotide transhydrogenase cause familial glucocorticoid deficiency

Mutations in a novel gene, encoding a single transmembrane domain protein are associated with familial glucocorticoid deficiency type 2.

Mylk3 null C57BL/6N mice develop cardiomyopathy, whereas Nnt null C57BL/6J mice do not

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

NNT pseudoexon activation as a novel mechanism for disease in two siblings with familial glucocorticoid deficiency

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

Nicotinamide Nucleotide Transhydrogenase as a Novel Treatment Target in Adrenocortical Carcinoma

Nonclassic lipoid congenital adrenal hyperplasia masquerading as familial glucocorticoid deficiency

Nonclassical GH Insensitivity: Characterization of Mild Abnormalities of GH Action

Nosocomial Acquisition of Burkholderia gladioli in patients with cystic fibrosis

Novel Dominant-Negative GH Receptor Mutations Expands the Spectrum of GHI and IGF-I Deficiency.

Novel growth hormone receptor mutation in a Chinese patient with Laron syndrome

Novel polymorphisms and lack of mutations in the ACD gene in patients with ACTH resistance syndromes.

Oxidative stress and adrenocortical insufficiency

PCR-enzyme-linked immunosorbent assay and sequencing as an alternative to serology for M-antigen typing of Streptococcus pyogenes

PCR-enzyme-linked immunosorbent assay for detection and identification of Campylobacter species: application to isolates and stool samples

Patients with short stature and GH/IGF-1 insensitivity harbour copy number variants causing a Silver-Russell-like phenotype

Phenotypic aspects of growth hormone- and IGF-I-resistant syndromes.

Phenotypic characteristics of familial glucocorticoid deficiency (FGD) type 1 and 2

Phenotypic spectrum and responses to recombinant human IGF1 (rhIGF1) therapy in patients with homozygous intronic pseudoexon growth hormone receptor mutation.

Phenotypic variability in growth hormone insensitivity

Predicted Benign and Synonymous Variants in CYP11A1 Cause Primary Adrenal Insufficiency Through Missplicing.

Predictive fluorescent amplified-fragment length polymorphism analysis of Escherichia coli: high-resolution typing method with phylogenetic significance

Predictive modelling of fluorescent AFLP: a new approach to the molecular epidemiology of E. coli