Lista de obras - Lou Metherell - Dominio Público Uruguay

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

artículo científico publicado en 2018

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.

artículo científico publicado en 2014

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

artículo científico publicado en 2018

ACTH resistance: genes and mechanisms

artículo científico

ACTH signalling and adrenal development: lessons from mouse models

artículo científico publicado en 2019

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

artículo científico publicado en 2008

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

artículo científico publicado en 2010

Adrenocortical development, maintenance, and disease.

artículo científico

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).

artículo científico publicado en 2012

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

artículo científico publicado en 2018

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.

artículo científico publicado en 2013

Detection of rpoB mutations in Mycobacterium tuberculosis by biprobe analysis.

artículo científico publicado en 2001

Diagnostic and therapeutic advances in growth hormone insensitivity

artículo científico publicado en 2005

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

artículo científico publicado en 2018

Effects of melanocortins on adrenal gland physiology

artículo científico publicado en 2011

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

artículo científico publicado en 2006

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

artículo científico publicado en 2011

Familial glucocorticoid deficiency: New genes and mechanisms

artículo científico

Familial glucocorticoid deficiency: a diagnostic challenge during acute illness.

artículo científico publicado en 2013

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

artículo científico publicado en 2007

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

artículo científico publicado en 2010

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

artículo científico publicado en 2009

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

artículo científico publicado en 2021

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

artículo científico publicado en 2011

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

artículo científico publicado en 2014

Genetics of ACTH insensitivity syndromes.

artículo científico publicado en 2005

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

artículo científico publicado en 2004

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

artículo científico publicado en 2007

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

artículo científico publicado en 2001

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

artículo científico publicado en 2018

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

artículo científico publicado en 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

artículo científico publicado en 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

artículo científico publicado en 2014

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

artículo científico publicado en 2016

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

artículo científico publicado en 2009

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

artículo científico publicado en 2007

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

artículo científico publicado en 2017

Inherited ACTH insensitivity illuminates the mechanisms of ACTH action

artículo científico publicado en 2005

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

artículo científico publicado en 2009

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.

artículo científico publicado en 2012

MRAP and MRAP2 are bidirectional regulators of the melanocortin receptor family

artículo científico publicado en 2009

MRAP deficiency impairs adrenal progenitor cell differentiation and gland zonation

artículo científico publicado en 2018

Mechanisms of disease: the adrenocorticotropin receptor and disease.

artículo científico publicado en 2006

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

artículo científico publicado en 2010

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

artículo científico publicado en 2018

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

artículo científico publicado en 2005

Mutations in NNT encoding nicotinamide nucleotide transhydrogenase cause familial glucocorticoid deficiency

artículo científico publicado en 2012

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

artículo científico publicado en 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.

artículo científico publicado en 2017

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

artículo científico publicado en 2014

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

artículo científico publicado en 2011

Nicotinamide Nucleotide Transhydrogenase as a Novel Treatment Target in Adrenocortical Carcinoma

artículo científico publicado en 2018

Nonclassic lipoid congenital adrenal hyperplasia masquerading as familial glucocorticoid deficiency

artículo científico publicado en 2009

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

artículo científico publicado en 1999

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

artículo científico publicado en 2017

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

artículo científico publicado en 2005

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

artículo científico publicado en 2007

Oxidative stress and adrenocortical insufficiency

artículo científico publicado en 2014

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

artículo científico publicado en 1997

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

artículo científico publicado en 1999

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

artículo científico publicado en 2018

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

artículo científico publicado en 2009

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

artículo científico publicado en 2009

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

artículo científico publicado en 2018

Phenotypic variability in growth hormone insensitivity

artículo científico publicado en 2002

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

artículo científico publicado en 2018

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

artículo científico publicado en 1999

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.

artículo científico publicado en 2015

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

artículo científico publicado en 2001

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

artículo científico publicado en 1997

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

artículo científico publicado en 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.

artículo científico publicado en 2003

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

artículo científico publicado en 2010

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

artículo científico publicado en 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.

artículo científico publicado en 2007

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

artículo científico publicado en 2020

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

artículo científico publicado en 2017

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

artículo científico publicado en 2002

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

artículo científico publicado en 2004

Tall stature in familial glucocorticoid deficiency

artículo científico publicado en 2000

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

artículo científico publicado en 2007

The genetics of ACTH resistance syndromes

artículo científico publicado en 2006

The genetics of familial glucocorticoid deficiency.

artículo científico publicado en 2009

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

artículo científico publicado en 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.

artículo científico publicado en 2008

The molecular pathogenesis of ACTH insensitivity syndromes.

artículo científico publicado en 2001

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

artículo científico publicado en 2014

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

artículo científico publicado en 2016

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

artículo científico publicado en 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.

artículo científico publicado en 2017

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

artículo científico publicado en 2009

Lista de obras de 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