Lista de obras -

60 YEARS OF POMC: POMC: the consummate peptide hormone precursor

artículo científico publicado en 2016

60 YEARS OF POMC: The proopiomelanocortin gene: discovery, deletion and disease

artículo científico publicado en 2016

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 CCAAT/enhancer-binding protein site at -87 is required for the activation of a novel murine melanocortin 2-receptor promoter at late stages during adipogenesis.

artículo científico publicado en 2006

A homozygous splice site mutation affecting the intracellular domain of the growth hormone (GH) receptor resulting in Laron syndrome with elevated GH-binding protein

scientific article published on 01 May 1996

A novel liver specific isoform of the rat LAR transcript is expressed as a truncated isoform encoded from a 5'UTR located within intron 11.

artículo científico publicado en 2009

A novel variant of familial glucocorticoid deficiency prevalent among the Irish Traveler population

artículo científico publicado en 2008

A peroxisome proliferator-response element in the murine mc2-r promoter regulates its transcriptional activation during differentiation of 3T3-L1 adipocytes

artículo científico publicado en 2004

ACTH and alpha-MSH inhibit leptin expression and secretion in 3T3-L1 adipocytes: model for a central-peripheral melanocortin-leptin pathway

artículo científico publicado en 2003

ACTH resistance: genes and mechanisms

artículo científico

ACTH signalling and adrenal development: lessons from mouse models

artículo científico publicado en 2019

ALADIN, but where's the genie?

artículo científico publicado en 2002

AT1 receptor blocker-insensitive mutant AT1A angiotensin receptors reveal the presence of G protein-independent signaling in C9 cells

scientific article published on 10 January 2007

Absence of mutations in the MEN2A region of the ret proto-oncogene in non-MEN 2A phaeochromocytomas

artículo científico publicado en 1995

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

Adrenocorticotropin insensitivity syndromes

artículo científico publicado en 1998

Adrenocorticotropin receptor gene mutations in familial glucocorticoid deficiency: relationships with clinical features in four families

artículo científico publicado en 1995

Adrenocorticotropin resistance syndromes

artículo científico publicado en 2008

Advances in the understanding of the genetic basis of adrenal insufficiency.

artículo científico publicado en 2002

Agonist activated adrenocorticotropin receptor internalizes via a clathrin-mediated G protein receptor kinase dependent mechanism

artículo científico publicado en 2002

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 alternatively spliced human insulin-like growth factor-I transcript with hepatic tissue expression that diverts away from the mitogenic IBE1 peptide

artículo científico publicado en 1995

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

Analysis of the first exon of the murine ACTH receptor gene

artículo científico publicado en 1998

Analysis of the intracellular signalling domain of the human growth hormone receptor in children with idiopathic short stature

scientific article published on 01 April 2000

Angiotensin II-induced expression of brain-derived neurotrophic factor in human and rat adrenocortical cells.

artículo científico publicado en 2010

Angiotensinogen in human essential hypertension

artículo científico publicado en 1996

Association analysis of ten candidate genes in a large multinational cohort of small for gestational age children and children with idiopathic short stature (NESTEGG study).

artículo científico publicado en 2013

Association between insulin-like growth factor I (IGF-I) polymorphisms, circulating IGF-I, and pre- and postnatal growth in two European small for gestational age populations

scientific article published on 01 October 2003

Bioluminescence Resonance Energy Transfer Reveals the Adrenocorticotropin (ACTH)-Induced Conformational Change of the Activated ACTH Receptor Complex in Living Cells ⬇️

artículo científico publicado el 22 de diciembre de 2010

Characterization of the angiotensin (AT1b) receptor promoter and its regulation by glucocorticoids

artículo científico publicado en 2009

Chromosomal fragility in patients with 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

scientific article published on 01 October 2007

Clinical features, diagnosis, treatment and molecular studies in paediatric Cushing's syndrome due to primary nodular adrenocortical hyperplasia.

artículo científico publicado en 2004

Constitutive activation of the human ACTH receptor resulting from a synergistic interaction between two naturally occurring missense mutations in the MC2R gene.

artículo científico publicado en 2004

Defects of the growth hormone receptor and their clinical implications

artículo científico publicado en 1999

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

artículo científico publicado en 2013

Deficiency of ferritin heavy-chain nuclear import in triple a syndrome implies nuclear oxidative damage as the primary disease mechanism

artículo científico publicado en 2009

Desensitisation of calcitonin gene-related peptide responsiveness but not adrenomedullin responsiveness in vascular smooth muscle cells

artículo científico publicado en 2000

Desensitization of the Y1 cell adrenocorticotropin receptor: evidence for a restricted heterologous mechanism implying a role for receptor-effector complexes

artículo científico publicado en 2001

Diagnostic and therapeutic advances in growth hormone insensitivity

artículo científico publicado en 2005

Differential beta-arrestin binding of AT1 and AT2 angiotensin receptors.

artículo científico publicado en 2005

Diminished adrenal androgen secretion in familial glucocorticoid deficiency implicates a significant role for ACTH in the induction of adrenarche

artículo científico publicado en 1997

Discussion on nutrition and genetics

artículo científico publicado en 2013

Distinct melanocortin 2 receptor accessory protein domains are required for melanocortin 2 receptor interaction and promotion of receptor trafficking.

artículo científico publicado en 2008

Effects of insulin-like growth factor I (IGF-I) therapy on body composition and insulin resistance in IGF-I gene deletion

artículo científico publicado en 2000

Effects of melanocortins on adrenal gland physiology

artículo científico publicado en 2011

Effects of recombinant human insulin-like growth factor I (IGF-I) therapy on the growth hormone-IGF system of a patient with a partial IGF-I gene deletion

artículo científico publicado en 1999

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

artículo científico publicado en 2006

Endocytosis of the AT1A angiotensin receptor is independent of ubiquitylation of its cytoplasmic serine/threonine-rich region

artículo científico publicado en 2003

Epigenetic modification of the renin-angiotensin system in the fetal programming of hypertension

artículo científico publicado en 2007

Essential hypertension in African Caribbeans associates with a variant of the beta2-adrenoceptor.

artículo científico publicado en 1997

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

artículo científico publicado en 2011

Exclusion of the adrenocorticotropin (ACTH) receptor (MC2R) locus in some families with ACTH resistance but no mutations of the MC2R coding sequence (familial glucocorticoid deficiency type 2).

artículo científico publicado en 1998

Expression, desensitization, and internalization of the ACTH receptor (MC2R).

artículo científico publicado en 2003

FOREWORD

scholarly article by Julian R E Davis & Adrian J L Clark published January 2005 in Journal of Endocrinology

Failed export of the adrenocorticotrophin receptor from the endoplasmic reticulum in non-adrenal cells: evidence in support of a requirement for a specific adrenal accessory factor

artículo científico publicado en 2002

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

Fetal programming of perivenous glucose uptake reveals a regulatory mechanism governing hepatic glucose output during refeeding

artículo científico publicado en 2003

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

artículo científico publicado en 2009

GH responsiveness in a large multinational cohort of SGA children with short stature (NESTEGG) is related to the exon 3 GHR polymorphism.

artículo científico publicado en 2007

Gene association studies in small for gestational age infants

artículo científico publicado en 2002

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

artículo científico publicado en 2021

Genetic factors contributing to birth weight

artículo científico publicado en 2002

Genome-wide methylation and gene expression changes in newborn rats following maternal protein restriction and reversal by folic acid

artículo científico publicado en 2013

Glucocorticoid effects on the programming of AT1b angiotensin receptor gene methylation and expression in the rat

artículo científico publicado en 2010

Growth abnormalities associated with adrenal disorders and their management

artículo científico publicado en 2001

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

scientific article published on 01 January 2000

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

artículo científico publicado en 2001

Heterogeneity in the molecular basis of ACTH resistance syndrome.

artículo científico publicado en 2008

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

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

artículo científico publicado en 2009

Identification of a novel melanocortin 2 receptor splice variant in murine adipocytes: implications for post-transcriptional control of expression during adipogenesis.

artículo científico publicado en 2006

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

artículo científico publicado en 2007

Impaired desensitization of a mutant adrenocorticotropin receptor associated with apparent constitutive activity

artículo científico publicado en 2002

Inherited ACTH insensitivity illuminates the mechanisms of ACTH action

artículo científico publicado en 2005

Insulin-like growth factor (IGF)-I gene deletion

artículo científico publicado en 2002

Insulin‐like growth factor I gene deletion causing intrauterine growth retardation and severe short stature ⬇️

artículo científico publicado el 1 de noviembre de 1997

Interaction of the melanocortin 2 receptor with nucleoporin 50: evidence for a novel pathway between a G-protein-coupled receptor and the nucleus.

artículo científico publicado en 2007

Intrauterine growth retardation and postnatal growth failure associated with deletion of the insulin-like growth factor I gene

artículo científico publicado en 1996

Investigation of the role of epigenetic modification of the rat glucokinase gene in fetal programming

artículo científico publicado en 2004

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

Ligand-specific conformational change of the G-protein-coupled receptor ALX/FPR2 determines proresolving functional responses.

artículo científico publicado en 2013

Linkage of one gene for familial glucocorticoid deficiency type 2 (FGD2) to chromosome 8q and further evidence of heterogeneity

article

Linkage of the Angiotensinogen Gene to Essential Hypertension

article

Linkage of the angiotensinogen gene locus to human essential hypertension in African Caribbeans

artículo científico publicado en 1995

Localisation of the melanocortin-2-receptor and its accessory proteins in the developing and adult adrenal gland

artículo científico publicado en 2011

Loss of Mrap2 is associated with Sim1 deficiency and increased circulating cholesterol.

scientific article published on 22 April 2016

Loss of function of the melanocortin 2 receptor accessory protein 2 is associated with mammalian obesity

scientific journal article

Loss of the C terminus of melanocortin receptor 2 (MC2R) results in impaired cell surface expression and ACTH insensitivity.

artículo científico publicado en 2010

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 adrenocorticotropin-induced activation of extracellularly regulated kinase 1/2 mitogen-activated protein kinase in the human H295R adrenal cell line

artículo científico publicado en 2008

Mechanisms of disease: the adrenocorticotropin receptor and disease.

artículo científico publicado en 2006

Melanocortin 4 receptor becomes an ACTH receptor by coexpression of melanocortin receptor accessory protein 2.

artículo científico publicado en 2013

Melanocortin receptor accessory proteins in adrenal disease and obesity

artículo científico publicado en 2015

Melanocortin receptor accessory proteins in adrenal gland physiology and beyond.

artículo científico publicado en 2013

Melanocortin receptors and their accessory proteins

artículo científico publicado en 2010

Minireview: the melanocortin 2 receptor accessory proteins.

scientific article published on 23 October 2009

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

artículo científico publicado en 2010

Multiple segmental uniparental disomy associated with abnormal DNA methylation of imprinted Loci in silver-russell syndrome.

artículo científico publicado en 2012

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

NESTEGG: aims and strategies. Northern European Study of Genes in Growth

artículo científico publicado en 2002

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

artículo científico publicado en 2011

Network of European studies of genes in growth (NESTEGG).

artículo científico publicado en 2009

Nonclassic lipoid congenital adrenal hyperplasia masquerading as familial glucocorticoid deficiency

artículo científico publicado en 2009

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

Pathophysiology of melanocortin receptors and their accessory proteins

artículo científico publicado en 2018

Phenotype: Genotype Relationships in Growth Hormone Insensitivity Syndrome1 ⬇️

artículo científico publicado el 1 de noviembre de 1997

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 variability in growth hormone insensitivity

artículo científico publicado en 2002

Polymorphism in the IGF-I gene: clinical relevance for short children born small for gestational age (SGA)

scientific article published on 01 June 2002

Pro-opiomelanocortin gene expression and peptide secretion in human small-cell lung cancer cell lines.

artículo científico publicado en 1989

Pro-opiomelanocortin mRNA size heterogeneity in ACTH-dependent Cushing's syndrome

artículo científico publicado en 1989

Promiscuity among the MRAPs

artículo científico publicado en 2017

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

artículo científico publicado en 2001

Rapid desensitisation of the GH secretagogue (ghrelin) receptor to hexarelin in vitro

artículo científico publicado en 2003

Relationship between phenotype and genotype in growth hormone insensitivity syndrome

artículo científico publicado en 1999

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

Role of the proline-rich domain of dynamin-2 and its interactions with Src homology 3 domains during endocytosis of the AT1 angiotensin receptor

scientific journal article

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

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

artículo científico publicado en 2002

Stability and Turnover of the ACTH Receptor Complex

artículo científico publicado en 2019

Structural determinants of agonist-induced signaling and regulation of the angiotensin AT1 receptor

artículo científico publicado en 2004

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 E3 ubiquitin ligase Mahogunin ubiquitinates the melanocortin 2 receptor

artículo científico publicado en 2011

The aberrant expression of the gastric inhibitory polypeptide (GIP) receptor in adrenal hyperplasia: does chronic adrenocorticotropin exposure stimulate up-regulation of GIP receptors in Cushing's disease?

artículo científico publicado en 2005

The broad spectrum of inherited growth hormone insensitivity syndrome

artículo científico publicado en 1998

The cytosolic chaperone Hsc70 promotes traffic to the cell surface of intracellular retained melanocortin-4 receptor mutants

scientific journal article

The expression of the ACTH receptor

artículo científico publicado en 2000

The genetics of ACTH resistance syndromes

artículo científico publicado en 2006

The genetics of familial glucocorticoid deficiency.

artículo científico publicado en 2009

The influence of plasma on basal and ACTH-stimulated in vitro adrenocortical steroidogenesis

artículo científico publicado en 1999

The insulin-like growth factor-I (IGF-I) gene in individuals born small for gestational age (SGA)

artículo científico publicado en 1999

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 melanocortin 2 receptor accessory protein exists as a homodimer and is essential for the function of the melanocortin 2 receptor in the mouse y1 cell line.

artículo científico publicado en 2007

The melanocortin receptors and their accessory proteins.

artículo científico publicado en 2013

The molecular pathogenesis of ACTH insensitivity syndromes.

artículo científico publicado en 2001

The molecular pathology of pituitary hormone deficiency and resistance

artículo científico publicado en 1995

Thematic reviews

scholarly article by Adrian J L Clark & David W. Ray published June 2011 in Journal of Endocrinology

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

artículo científico publicado en 2014

Triple A syndrome is caused by mutations in AAAS, a new WD-repeat protein gene

artículo científico publicado en 2001

Triple A syndrome--clinical aspects and molecular genetics

artículo científico publicado en 2000

Variable methylation of the 5'-flanking DNA of the human pro-opiomelanocortin gene

artículo científico publicado en 1991

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

artículo científico publicado en 2015

[Phenotype-genotype relations in growth hormone insensitivity]

scientific article published on 01 January 1998

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

artículo científico publicado en 2009

Lista de obras de

60 YEARS OF POMC: POMC: the consummate peptide hormone precursor

60 YEARS OF POMC: The proopiomelanocortin gene: discovery, deletion and disease

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

A CCAAT/enhancer-binding protein site at -87 is required for the activation of a novel murine melanocortin 2-receptor promoter at late stages during adipogenesis.

A homozygous splice site mutation affecting the intracellular domain of the growth hormone (GH) receptor resulting in Laron syndrome with elevated GH-binding protein

A novel liver specific isoform of the rat LAR transcript is expressed as a truncated isoform encoded from a 5'UTR located within intron 11.

A novel variant of familial glucocorticoid deficiency prevalent among the Irish Traveler population

A peroxisome proliferator-response element in the murine mc2-r promoter regulates its transcriptional activation during differentiation of 3T3-L1 adipocytes

ACTH and alpha-MSH inhibit leptin expression and secretion in 3T3-L1 adipocytes: model for a central-peripheral melanocortin-leptin pathway

ACTH resistance: genes and mechanisms

ACTH signalling and adrenal development: lessons from mouse models

ALADIN, but where's the genie?

AT1 receptor blocker-insensitive mutant AT1A angiotensin receptors reveal the presence of G protein-independent signaling in C9 cells

Absence of mutations in the MEN2A region of the ret proto-oncogene in non-MEN 2A phaeochromocytomas

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

Adrenocorticotropin insensitivity syndromes

Adrenocorticotropin receptor gene mutations in familial glucocorticoid deficiency: relationships with clinical features in four families

Adrenocorticotropin resistance syndromes

Advances in the understanding of the genetic basis of adrenal insufficiency.

Agonist activated adrenocorticotropin receptor internalizes via a clathrin-mediated G protein receptor kinase dependent mechanism

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

An alternatively spliced human insulin-like growth factor-I transcript with hepatic tissue expression that diverts away from the mitogenic IBE1 peptide

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

Analysis of the first exon of the murine ACTH receptor gene

Analysis of the intracellular signalling domain of the human growth hormone receptor in children with idiopathic short stature

Angiotensin II-induced expression of brain-derived neurotrophic factor in human and rat adrenocortical cells.

Angiotensinogen in human essential hypertension

Association analysis of ten candidate genes in a large multinational cohort of small for gestational age children and children with idiopathic short stature (NESTEGG study).

Association between insulin-like growth factor I (IGF-I) polymorphisms, circulating IGF-I, and pre- and postnatal growth in two European small for gestational age populations

Bioluminescence Resonance Energy Transfer Reveals the Adrenocorticotropin (ACTH)-Induced Conformational Change of the Activated ACTH Receptor Complex in Living Cells ⬇️

Characterization of the angiotensin (AT1b) receptor promoter and its regulation by glucocorticoids

Chromosomal fragility in patients with 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

Clinical features, diagnosis, treatment and molecular studies in paediatric Cushing's syndrome due to primary nodular adrenocortical hyperplasia.

Constitutive activation of the human ACTH receptor resulting from a synergistic interaction between two naturally occurring missense mutations in the MC2R gene.

Defects of the growth hormone receptor and their clinical implications

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

Deficiency of ferritin heavy-chain nuclear import in triple a syndrome implies nuclear oxidative damage as the primary disease mechanism

Desensitisation of calcitonin gene-related peptide responsiveness but not adrenomedullin responsiveness in vascular smooth muscle cells

Desensitization of the Y1 cell adrenocorticotropin receptor: evidence for a restricted heterologous mechanism implying a role for receptor-effector complexes

Diagnostic and therapeutic advances in growth hormone insensitivity

Differential beta-arrestin binding of AT1 and AT2 angiotensin receptors.

Diminished adrenal androgen secretion in familial glucocorticoid deficiency implicates a significant role for ACTH in the induction of adrenarche

Discussion on nutrition and genetics

Distinct melanocortin 2 receptor accessory protein domains are required for melanocortin 2 receptor interaction and promotion of receptor trafficking.

Effects of insulin-like growth factor I (IGF-I) therapy on body composition and insulin resistance in IGF-I gene deletion

Effects of melanocortins on adrenal gland physiology

Effects of recombinant human insulin-like growth factor I (IGF-I) therapy on the growth hormone-IGF system of a patient with a partial IGF-I gene deletion

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

Endocytosis of the AT1A angiotensin receptor is independent of ubiquitylation of its cytoplasmic serine/threonine-rich region

Epigenetic modification of the renin-angiotensin system in the fetal programming of hypertension

Essential hypertension in African Caribbeans associates with a variant of the beta2-adrenoceptor.

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

Exclusion of the adrenocorticotropin (ACTH) receptor (MC2R) locus in some families with ACTH resistance but no mutations of the MC2R coding sequence (familial glucocorticoid deficiency type 2).

Expression, desensitization, and internalization of the ACTH receptor (MC2R).

FOREWORD

Failed export of the adrenocorticotrophin receptor from the endoplasmic reticulum in non-adrenal cells: evidence in support of a requirement for a specific adrenal accessory factor

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.

Fetal programming of perivenous glucose uptake reveals a regulatory mechanism governing hepatic glucose output during refeeding

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

GH responsiveness in a large multinational cohort of SGA children with short stature (NESTEGG) is related to the exon 3 GHR polymorphism.

Gene association studies in small for gestational age infants

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

Genetic factors contributing to birth weight

Genome-wide methylation and gene expression changes in newborn rats following maternal protein restriction and reversal by folic acid

Glucocorticoid effects on the programming of AT1b angiotensin receptor gene methylation and expression in the rat

Growth abnormalities associated with adrenal disorders and their management

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

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

Heterogeneity in the molecular basis of ACTH resistance syndrome.

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

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

Identification of a novel melanocortin 2 receptor splice variant in murine adipocytes: implications for post-transcriptional control of expression during adipogenesis.

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