Lista de obras -

A novel CYP17A1 deletion causes a functional knockout of the steroid enzyme 17-hydroxylase and 17,20-lyase in a Turkish family and illustrates the precise role of the CYP17A1 gene

artículo científico publicado en 2015

A novel GH-1 gene mutation (GH-P59L) causes partial GH deficiency type II combined with bioinactive GH syndrome

artículo científico publicado en 2011

A rare cause of primary adrenal insufficiency due to a homozygous Arg188Cys mutation in the STAR gene

artículo científico publicado en 2018

Acute encephalopathy with unilateral cortical-subcortical lesions in two unrelated kindreds treated with glucocorticoids prenatally for congenital adrenal hyperplasia due to 21-hydroxylase deficiency: established facts and novel insight.

artículo científico publicado en 2013

Adrenal insufficiency after glucocorticoid withdrawal in children with rheumatic diseases

artículo científico publicado en 2010

Alteration of ZnT5-mediated zinc import into the early secretory pathway affects the secretion of growth hormone from rat pituitary cells

artículo científico publicado en 2014

Altered heme catabolism by heme oxygenase-1 caused by mutations in human NADPH cytochrome P450 reductase

artículo científico publicado en 2010

Androgen biosynthesis during minipuberty favors the backdoor pathway over the classic pathway: Insights into enzyme activities and steroid fluxes in healthy infants during the first year of life from the urinary steroid metabolome.

artículo científico publicado en 2016

Androgen production in pediatric adrenocortical tumors may occur via both the classic and/or the alternative backdoor pathway

artículo científico

Anti-Müllerian hormone levels in girls and adolescents with Turner syndrome are related to karyotype, pubertal development and growth hormone treatment.

artículo científico publicado en 2013

Association of the (CA)n repeat polymorphism of insulin-like growth factor-I and -202 A/C IGF-binding protein-3 promoter polymorphism with adult height in patients with severe growth hormone deficiency

artículo científico publicado en 2012

Atypical presentation of a hormonally active adrenocortical tumor in an adolescent leading to delayed diagnosis

scientific article published on 01 October 2011

Autologous transplantation of cryopreserved ovarian tissue to induce puberty-the endocrinologists' view.

artículo científico publicado en 2016

Broad Phenotypes of Disorders/Differences of Sex Development in MAMLD1 Patients Through Oligogenic Disease

artículo científico publicado en 2019

Broad phenotypes in heterozygous NR5A1 46,XY patients with a disorder of sex development: an oligogenic origin?

scientific article published on 11 June 2018

Butyrate increases intracellular calcium levels and enhances growth hormone release from rat anterior pituitary cells via the G-protein-coupled receptors GPR41 and 43

artículo científico publicado en 2014

Caring for individuals with a difference of sex development (DSD): a Consensus Statement

article

Characteristics of Growth in Children With Classic Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency During Adrenarche and Beyond

artículo científico publicado en 2022

Characterization of a novel CYP19A1 (aromatase) R192H mutation causing virilization of a 46,XX newborn, undervirilization of the 46,XY brother, but no virilization of the mother during pregnancies

artículo científico publicado en 2014

Characterization of novel StAR (steroidogenic acute regulatory protein) mutations causing non-classic lipoid adrenal hyperplasia

artículo científico publicado en 2011

Children's and adolescent's self - assessment of metabolic control versus professional judgment: a cross-sectional retrospective and prospective cohort study

scientific article published on 17 December 2013

Clinical and Biochemical Consequences of P450 Oxidoreductase Deficiency ⬇️

artículo científico publicado el 16 de diciembre de 2010

Clinical but Not Histological Outcomes in Males With 45,X/46,XY Mosaicism Vary Depending on Reason for Diagnosis

artículo científico publicado en 2019

Colon cancer cells produce immunoregulatory glucocorticoids ⬇️

artículo científico publicado el 1 de julio de 2012

Combined transcriptome and metabolome analyses of metformin effects reveal novel links between metabolic networks in steroidogenic systems.

artículo científico publicado en 2017

Congenital Hypogonadotropic Hypogonadism and Constitutional Delay of Growth and Puberty Have Distinct Genetic Architectures

artículo científico publicado en 2018

Congenital adrenal hyperplasia owing to 17α-hydroxylase/17,20 lyase and p450 oxidoreductase deficiencies

artículo científico publicado en 2011

Corrigendum to "Estimation of reference curves for the urinary steroid metabolome in the first year of life in healthy children: Tracing the complexity of human postnatal steroidogenesis" [J. Steroid Biochem. Mol. Biol. 154 (2015) 226-236]

scientific article published on 16 August 2018

Deletion of P399_E401 in NADPH cytochrome P450 oxidoreductase results in partial mixed oxidase deficiency

artículo científico publicado en 2011

Differential regulation of human 3β-hydroxysteroid dehydrogenase type 2 for steroid hormone biosynthesis by starvation and cyclic AMP stimulation: studies in the human adrenal NCI-H295R cell model.

artículo científico publicado en 2013

Effect of Zinc Binding Residues in Growth Hormone (GH) and Altered Intracellular Zinc Content on Regulated GH Secretion ⬇️

artículo científico publicado el 22 de agosto de 2013

Estimation of reference curves for the urinary steroid metabolome in the first year of life in healthy children: Tracing the complexity of human postnatal steroidogenesis

artículo científico publicado en 2015

Evaluating CHARGE syndrome in congenital hypogonadotropic hypogonadism patients harboring CHD7 variants

artículo científico publicado en 2017

FDXR variants cause adrenal insufficiency and atypical sexual development

artículo científico publicado en 2024

GATA4 Variants in Individuals With a 46,XY Disorder of Sex Development (DSD) May or May Not Be Associated With Cardiac Defects Depending on Second Hits in Other DSD Genes

artículo científico publicado en 2018

Genes and proteins of the alternative steroid backdoor pathway for dihydrotestosterone synthesis are expressed in the human ovary and seem enhanced in the polycystic ovary syndrome.

artículo científico publicado en 2016

Glucocorticoid metabolites in newborns: A marker for traffic noise related stress?

scientific article published on 17 May 2018

Growth hormone (GH) deficiency type II: a novel GH-1 gene mutation (GH-R178H) affecting secretion and action

artículo científico publicado en 2009

Growth hormone (GH)-releasing hormone increases the expression of the dominant-negative GH isoform in cases of isolated GH deficiency due to GH splice-site mutations

artículo científico publicado en 2010

HIV Drug Efavirenz Inhibits CYP21A2 Activity with Possible Clinical Implications

artículo científico publicado en 2019

High prevalence of vitamin D deficiency in children and adolescents with type 1 diabetes ⬇️

artículo científico publicado el 3 de septiembre de 2010

Human 3β-hydroxysteroid dehydrogenase deficiency seems to affect fertility but may not harbor a tumor risk: lesson from an experiment of nature.

artículo científico

Human MAMLD1 Gene Variations Seem Not Sufficient to Explain a 46,XY DSD Phenotype

artículo científico publicado en 2015

Human NR5A1/SF-1 mutations show decreased activity on BDNF (brain-derived neurotrophic factor), an important regulator of energy balance: testing impact of novel SF-1 mutations beyond steroidogenesis

artículo científico publicado en 2014

IGHD II: A Novel GH-1 Gene Mutation (GH-L76P) Severely Affects GH Folding, Stability, and Secretion

artículo científico publicado en 2015

Impact of differential P450c17 phosphorylation by cAMP stimulation and by starvation conditions on enzyme activities and androgen production in NCI-H295R cells

artículo científico publicado en 2010

Impact of estrogen replacement throughout childhood on growth, pituitary-gonadal axis and bone in a 46,XX patient with CYP19A1 deficiency

artículo científico publicado en 2012

Impact on CYP19A1 activity by mutations in NADPH cytochrome P450 oxidoreductase

artículo científico publicado en 2017

In silico and functional studies reveal novel loss-of-function variants of SRD5A2, but no variants explaining excess 5α-reductase activity

scientific article published on 28 January 2019

Isolated GH deficiency type II: knockdown of the harmful Delta3GH recovers wt-GH secretion in rat tumor pituitary cells

artículo científico publicado en 2010

LRH-1 May Rescue SF-1 Deficiency for Steroidogenesis: An in vitro and in vivo Study

scientific article published on 17 April 2015

Lopinavir-Ritonavir Impairs Adrenal Function in Infants

scientific article published on 21 October 2019

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

artículo científico publicado en 2010

MECHANISMS IN ENDOCRINOLOGY: Update on pathogenesis of primary adrenal insufficiency: beyond steroid enzyme deficiency and autoimmune adrenal destruction

artículo científico publicado en 2017

MON-219 In Silico and in Vitro Studies of Human 5α-Reductase Type II Variants in Search for Activating Variants Explaining Androgen Excess Reveal New Loss-Of-Function Variants.

artículo científico publicado en 2019

Management of Gonads in Adults with Androgen Insensitivity: An International Survey

artículo científico publicado en 2018

Mechanism of the Dual Activities of Human CYP17A1 and Binding to Anti-Prostate Cancer Drug Abiraterone Revealed by a Novel V366M Mutation Causing 17,20 Lyase Deficiency.

artículo científico publicado en 2018

Metabolic control of type 1 diabetic patients followed at the University Children's Hospital in Berne: have we reached the goal?

artículo científico publicado en 2010

Metformin inhibits human androgen production by regulating steroidogenic enzymes HSD3B2 and CYP17A1 and complex I activity of the respiratory chain

artículo científico publicado en 2012

Modeling of human P450 oxidoreductase structure by in silico mutagenesis and MD simulation

artículo científico publicado en 2009

Molecular Aspects of Sex Development in Mammals: New Insight for Practice

scientific article published on 30 November 2020

Molecular Basis of CYP19A1 Deficiency in a 46,XX Patient With R550W Mutation in POR: Expanding the PORD Phenotype

artículo científico publicado en 2020

NADPH P450 oxidoreductase: structure, function, and pathology of diseases

artículo científico publicado en 2013

NADPH-cytochrome P450 oxidoreductase: roles in physiology, pharmacology, and toxicology.

artículo científico publicado en 2012

Nomenclature for alleles of the cytochrome P450 oxidoreductase gene

artículo científico publicado en 2009

Non-Virilizing Congenital Adrenal Hyperplasia in a Female Patient with a Novel HSD3B2 Mutation

artículo científico publicado en 2016

Novel CYP19A1 Mutations Extend the Genotype-Phenotype Correlation and Reveal the Impact on Ovarian Function

artículo científico publicado en 2020

Novel insight into etiology, diagnosis and management of primary adrenal insufficiency

artículo científico

Of marsupials and men: "Backdoor" dihydrotestosterone synthesis in male sexual differentiation

artículo científico

Oligogenic Origin of Differences of Sex Development in Humans

scientific article published on 06 March 2020

Ovarian and uterine development and hormonal feedback mechanism in a 46 XX patient with CYP19A1 deficiency under low dose estrogen replacement

artículo científico publicado en 2015

P450 Oxidoreductase Deficiency: Loss of Activity Caused by Protein Instability From a Novel L374H Mutation

artículo científico publicado en 2016

P450 Oxidoreductase deficiency: Analysis of mutations and polymorphisms

artículo científico publicado en 2017

Premature adrenarche in girls is characterized by enhanced 17,20-lyase and 17β-hydroxysteroid dehydrogenase activities

scientific article published on 31 August 2020

Primus-Eugen Mullis, November 1954 - January 2016.

artículo científico publicado en 2016

Reduction in hepatic drug metabolizing CYP3A4 activities caused by P450 oxidoreductase mutations identified in patients with disordered steroid metabolism

artículo científico publicado en 2010

Regulation of androgen biosynthesis - A short review and preliminary results from the hyperandrogenic starvation NCI-H295R cell model.

artículo científico

Regulation of human (adrenal) androgen biosynthesis-New insights from novel throughput technology studies.

artículo científico publicado en 2015

Rescue of Isolated GH Deficiency Type II (IGHD II) via Pharmacologic Modulation of GH-1 Splicing

artículo científico publicado en 2016

Response to Letter to the Editor: "Clinical but Not Histological Outcomes in Males With 45,X/46,XY Mosaicism Vary Depending on Reason for Diagnosis"

scientific article published on 01 December 2019

Restoration of mutant cytochrome P450 reductase activity by external flavin

artículo científico publicado en 2010

Resveratrol inhibits androgen production of human adrenocortical H295R cells by lowering CYP17 and CYP21 expression and activities.

artículo científico publicado en 2017

Retinoic acid receptor beta and angiopoietin-like protein 1 are involved in the regulation of human androgen biosynthesis

artículo científico publicado en 2015

Risk of Meningioma in European Patients Treated With Growth Hormone in Childhood: Results From the SAGhE Cohort

article published in 2019

Role of AMP-activated protein kinase on steroid hormone biosynthesis in adrenal NCI-H295R cells

artículo científico publicado en 2012

Role of DNA methylation in the tissue-specific expression of the CYP17A1 gene for steroidogenesis in rodents.

artículo científico publicado en 2009

SNP array profiling of childhood adrenocortical tumors reveals distinct pathways of tumorigenesis and highlights candidate driver genes

artículo científico publicado en 2012

STAR splicing mutations cause the severe phenotype of lipoid congenital adrenal hyperplasia: insights from a novel splice mutation and review of reported cases

artículo científico

Short stature in two siblings heterozygous for a novel bioinactive GH mutant (GH-P59S) suggesting that the mutant also affects secretion of the wild-type GH.

artículo científico publicado en 2013

Short-Term Fasting Attenuates Overall Steroid Hormone Biosynthesis in Healthy Young Women

scientific article published on 06 May 2022

Standardised data collection for clinical follow-up and assessment of outcomes in differences of sex development (DSD): recommendations from the COST action DSDnet

scientific article published on 01 November 2019

Steroidogenesis of the testis -- new genes and pathways

artículo científico publicado en 2014

Targeting GH-1 splicing as a novel pharmacological strategy for growth hormone deficiency type II.

artículo científico publicado en 2016

Testicular differentiation factor SF-1 is required for human spleen development

artículo científico publicado en 2014

The External Genitalia Score (EGS): A European Multicenter Validation Study

artículo científico publicado en 2020

Transient Neonatal Zinc Deficiency Caused by a Heterozygous G87R Mutation in the Zinc Transporter ZnT-2 (SLC30A2) Gene in the Mother Highlighting the Importance of Zn (2+) for Normal Growth and Development

scientific article published on 29 September 2013

Update on genetics of primary adrenal insufficiency

artículo científico publicado en 2019

Urinary steroid profiling in women hints at a diagnostic signature of the polycystic ovary syndrome: A pilot study considering neglected steroid metabolites

artículo científico publicado en 2018

Vitamin D-Dependent Rickets Type 1 Caused by Mutations in CYP27B1 Affecting Protein Interactions With Adrenodoxin

artículo científico publicado en 2016

Why boys will be boys: two pathways of fetal testicular androgen biosynthesis are needed for male sexual differentiation

artículo científico publicado en 2011

Lista de obras de

A novel CYP17A1 deletion causes a functional knockout of the steroid enzyme 17-hydroxylase and 17,20-lyase in a Turkish family and illustrates the precise role of the CYP17A1 gene

A novel GH-1 gene mutation (GH-P59L) causes partial GH deficiency type II combined with bioinactive GH syndrome

A rare cause of primary adrenal insufficiency due to a homozygous Arg188Cys mutation in the STAR gene

Acute encephalopathy with unilateral cortical-subcortical lesions in two unrelated kindreds treated with glucocorticoids prenatally for congenital adrenal hyperplasia due to 21-hydroxylase deficiency: established facts and novel insight.

Adrenal insufficiency after glucocorticoid withdrawal in children with rheumatic diseases

Alteration of ZnT5-mediated zinc import into the early secretory pathway affects the secretion of growth hormone from rat pituitary cells

Altered heme catabolism by heme oxygenase-1 caused by mutations in human NADPH cytochrome P450 reductase

Androgen biosynthesis during minipuberty favors the backdoor pathway over the classic pathway: Insights into enzyme activities and steroid fluxes in healthy infants during the first year of life from the urinary steroid metabolome.

Androgen production in pediatric adrenocortical tumors may occur via both the classic and/or the alternative backdoor pathway

Anti-Müllerian hormone levels in girls and adolescents with Turner syndrome are related to karyotype, pubertal development and growth hormone treatment.

Association of the (CA)n repeat polymorphism of insulin-like growth factor-I and -202 A/C IGF-binding protein-3 promoter polymorphism with adult height in patients with severe growth hormone deficiency

Atypical presentation of a hormonally active adrenocortical tumor in an adolescent leading to delayed diagnosis

Autologous transplantation of cryopreserved ovarian tissue to induce puberty-the endocrinologists' view.

Broad Phenotypes of Disorders/Differences of Sex Development in MAMLD1 Patients Through Oligogenic Disease

Broad phenotypes in heterozygous NR5A1 46,XY patients with a disorder of sex development: an oligogenic origin?

Butyrate increases intracellular calcium levels and enhances growth hormone release from rat anterior pituitary cells via the G-protein-coupled receptors GPR41 and 43

Caring for individuals with a difference of sex development (DSD): a Consensus Statement

Characteristics of Growth in Children With Classic Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency During Adrenarche and Beyond

Characterization of a novel CYP19A1 (aromatase) R192H mutation causing virilization of a 46,XX newborn, undervirilization of the 46,XY brother, but no virilization of the mother during pregnancies

Characterization of novel StAR (steroidogenic acute regulatory protein) mutations causing non-classic lipoid adrenal hyperplasia

Children's and adolescent's self - assessment of metabolic control versus professional judgment: a cross-sectional retrospective and prospective cohort study

Clinical and Biochemical Consequences of P450 Oxidoreductase Deficiency ⬇️

Clinical but Not Histological Outcomes in Males With 45,X/46,XY Mosaicism Vary Depending on Reason for Diagnosis

Colon cancer cells produce immunoregulatory glucocorticoids ⬇️

Combined transcriptome and metabolome analyses of metformin effects reveal novel links between metabolic networks in steroidogenic systems.

Congenital Hypogonadotropic Hypogonadism and Constitutional Delay of Growth and Puberty Have Distinct Genetic Architectures

Congenital adrenal hyperplasia owing to 17α-hydroxylase/17,20 lyase and p450 oxidoreductase deficiencies

Corrigendum to "Estimation of reference curves for the urinary steroid metabolome in the first year of life in healthy children: Tracing the complexity of human postnatal steroidogenesis" [J. Steroid Biochem. Mol. Biol. 154 (2015) 226-236]

Deletion of P399_E401 in NADPH cytochrome P450 oxidoreductase results in partial mixed oxidase deficiency

Differential regulation of human 3β-hydroxysteroid dehydrogenase type 2 for steroid hormone biosynthesis by starvation and cyclic AMP stimulation: studies in the human adrenal NCI-H295R cell model.

Effect of Zinc Binding Residues in Growth Hormone (GH) and Altered Intracellular Zinc Content on Regulated GH Secretion ⬇️

Estimation of reference curves for the urinary steroid metabolome in the first year of life in healthy children: Tracing the complexity of human postnatal steroidogenesis

Evaluating CHARGE syndrome in congenital hypogonadotropic hypogonadism patients harboring CHD7 variants

FDXR variants cause adrenal insufficiency and atypical sexual development

GATA4 Variants in Individuals With a 46,XY Disorder of Sex Development (DSD) May or May Not Be Associated With Cardiac Defects Depending on Second Hits in Other DSD Genes

Genes and proteins of the alternative steroid backdoor pathway for dihydrotestosterone synthesis are expressed in the human ovary and seem enhanced in the polycystic ovary syndrome.

Glucocorticoid metabolites in newborns: A marker for traffic noise related stress?

Growth hormone (GH) deficiency type II: a novel GH-1 gene mutation (GH-R178H) affecting secretion and action

Growth hormone (GH)-releasing hormone increases the expression of the dominant-negative GH isoform in cases of isolated GH deficiency due to GH splice-site mutations

HIV Drug Efavirenz Inhibits CYP21A2 Activity with Possible Clinical Implications

High prevalence of vitamin D deficiency in children and adolescents with type 1 diabetes ⬇️

Human 3β-hydroxysteroid dehydrogenase deficiency seems to affect fertility but may not harbor a tumor risk: lesson from an experiment of nature.

Human MAMLD1 Gene Variations Seem Not Sufficient to Explain a 46,XY DSD Phenotype

Human NR5A1/SF-1 mutations show decreased activity on BDNF (brain-derived neurotrophic factor), an important regulator of energy balance: testing impact of novel SF-1 mutations beyond steroidogenesis

IGHD II: A Novel GH-1 Gene Mutation (GH-L76P) Severely Affects GH Folding, Stability, and Secretion

Impact of differential P450c17 phosphorylation by cAMP stimulation and by starvation conditions on enzyme activities and androgen production in NCI-H295R cells

Impact of estrogen replacement throughout childhood on growth, pituitary-gonadal axis and bone in a 46,XX patient with CYP19A1 deficiency

Impact on CYP19A1 activity by mutations in NADPH cytochrome P450 oxidoreductase

In silico and functional studies reveal novel loss-of-function variants of SRD5A2, but no variants explaining excess 5α-reductase activity

Isolated GH deficiency type II: knockdown of the harmful Delta3GH recovers wt-GH secretion in rat tumor pituitary cells

LRH-1 May Rescue SF-1 Deficiency for Steroidogenesis: An in vitro and in vivo Study

Lopinavir-Ritonavir Impairs Adrenal Function in Infants

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

MECHANISMS IN ENDOCRINOLOGY: Update on pathogenesis of primary adrenal insufficiency: beyond steroid enzyme deficiency and autoimmune adrenal destruction

MON-219 In Silico and in Vitro Studies of Human 5α-Reductase Type II Variants in Search for Activating Variants Explaining Androgen Excess Reveal New Loss-Of-Function Variants.

Management of Gonads in Adults with Androgen Insensitivity: An International Survey

Mechanism of the Dual Activities of Human CYP17A1 and Binding to Anti-Prostate Cancer Drug Abiraterone Revealed by a Novel V366M Mutation Causing 17,20 Lyase Deficiency.

Metabolic control of type 1 diabetic patients followed at the University Children's Hospital in Berne: have we reached the goal?

Metformin inhibits human androgen production by regulating steroidogenic enzymes HSD3B2 and CYP17A1 and complex I activity of the respiratory chain

Modeling of human P450 oxidoreductase structure by in silico mutagenesis and MD simulation

Molecular Aspects of Sex Development in Mammals: New Insight for Practice

Molecular Basis of CYP19A1 Deficiency in a 46,XX Patient With R550W Mutation in POR: Expanding the PORD Phenotype

NADPH P450 oxidoreductase: structure, function, and pathology of diseases

NADPH-cytochrome P450 oxidoreductase: roles in physiology, pharmacology, and toxicology.

Nomenclature for alleles of the cytochrome P450 oxidoreductase gene

Non-Virilizing Congenital Adrenal Hyperplasia in a Female Patient with a Novel HSD3B2 Mutation

Novel CYP19A1 Mutations Extend the Genotype-Phenotype Correlation and Reveal the Impact on Ovarian Function

Novel insight into etiology, diagnosis and management of primary adrenal insufficiency

Of marsupials and men: "Backdoor" dihydrotestosterone synthesis in male sexual differentiation

Oligogenic Origin of Differences of Sex Development in Humans

Ovarian and uterine development and hormonal feedback mechanism in a 46 XX patient with CYP19A1 deficiency under low dose estrogen replacement

P450 Oxidoreductase Deficiency: Loss of Activity Caused by Protein Instability From a Novel L374H Mutation

P450 Oxidoreductase deficiency: Analysis of mutations and polymorphisms

Premature adrenarche in girls is characterized by enhanced 17,20-lyase and 17β-hydroxysteroid dehydrogenase activities

Primus-Eugen Mullis, November 1954 - January 2016.

Reduction in hepatic drug metabolizing CYP3A4 activities caused by P450 oxidoreductase mutations identified in patients with disordered steroid metabolism

Regulation of androgen biosynthesis - A short review and preliminary results from the hyperandrogenic starvation NCI-H295R cell model.

Regulation of human (adrenal) androgen biosynthesis-New insights from novel throughput technology studies.

Rescue of Isolated GH Deficiency Type II (IGHD II) via Pharmacologic Modulation of GH-1 Splicing