List of works - Nils Krone

46,XY disorder of sex development in a sudanese patient caused by a novel mutation in the HSD17B3 gene

scientific article published on 12 June 2014

5α-Reductase Type 2 Regulates Glucocorticoid Action and Metabolic Phenotype in Human Hepatocytes

scientific article published on 14 May 2015

A Novel Entity of Clinically Isolated Adrenal Insufficiency Caused by a Partially Inactivating Mutation of the Gene Encoding for P450 Side Chain Cleavage Enzyme (CYP11A1)

article

A diagnosis not to be missed: nonclassic steroid 11β-hydroxylase deficiency presenting with premature adrenarche and hirsutism

scientific article published on 12 August 2013

A missense mutation in the human cytochrome b5 gene causes 46,XY disorder of sex development due to true isolated 17,20 lyase deficiency

scientific article

A novel frameshift mutation (141delT) in exon 1 of the 21-hydroxylase gene (CYP21) in a patient with the salt wasting form of congenital adrenal hyperplasia. Mutation in brief no. 255. Online

scientific article published in January 1999

Absence of exercise-induced leptin suppression associated with insufficient epinephrine reserve in patients with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency

scientific article published on 01 March 2006

Adrenal Steroid Metabolites Accumulating in Congenital Adrenal Hyperplasia Lead to Transactivation of the Glucocorticoid Receptor

scientific article

Adrenal function: An overlooked cause of glucocorticoid deficiency?

scientific article published on 01 July 2009

Adult consequences of congenital adrenal hyperplasia

scientific article published on 10 December 2007

Age-specific changes in sex steroid biosynthesis and sex development

scientific article published on September 2007

Alternative pathway androgen biosynthesis and human fetal female virilization

scientific article published on 14 October 2019

Analyzing the functional and structural consequences of two point mutations (P94L and A368D) in the CYP11B1 gene causing congenital adrenal hyperplasia resulting from 11-hydroxylase deficiency

scientific article published on 02 May 2006

Autosomal-dominant pseudohypoaldosteronism type 1 in a Turkish family is associated with a novel nonsense mutation in the human mineralocorticoid receptor gene

scientific article

Bidirectional crosstalk between Hypoxia-Inducible Factor and glucocorticoid signalling in zebrafish larvae

scientific article published on 07 May 2020

CYP21 mutations in simple virilizing congenital adrenal hyperplasia

scientific article published in October 2001

Care provision in congenital adrenal hyperplasia - all doom and gloom or light at the end of the tunnel?

scientific article

Causes, patterns and severity of androgen excess in 487 consecutively recruited pre- and post-pubertal children

scientific article published on 01 March 2019

Changes over time in sex assignment for disorders of sex development.

scientific article published on 4 August 2014

Characterization of the molecular genetic pathology in patients with 11β-hydroxylase deficiency

scientific article published on 6 June 2015

Comprehensive analytical strategy for mutation screening in 21-hydroxylase deficiency

scientific article published on 01 October 1998

Concomitant mutations in the P450 oxidoreductase and androgen receptor genes presenting with 46,XY disordered sex development and androgenization at adrenarche

scientific article

Congenital adrenal hyperplasia and P450 oxidoreductase deficiency

scientific article

Congenital adrenal hyperplasia due to 11-hydroxylase deficiency--insights from two novel CYP11B1 mutations (p.M92X, p.R453Q).

scientific article published on 19 October 2009

Congenital adrenal hyperplasia due to 11-hydroxylase deficiency: functional characterization of two novel point mutations and a three-base pair deletion in the CYP11B1 gene

scientific article

Congenital adrenal hyperplasia: the molecular basis of 21-hydroxylase deficiency in H-2(aw18) mice

scientific article published on 24 February 2005

Current and novel approaches to children and young people with congenital adrenal hyperplasia and adrenal insufficiency

scientific article published on 22 April 2015

Cushing's syndrome in women with polycystic ovaries and hyperandrogenism

scientific article published in November 2007

Delayed diagnosis of adrenal insufficiency in a patient with severe penoscrotal hypospadias due to two novel P450 side-change cleavage enzyme (CYP11A1) mutations (p.R360W; p.R405X)

scientific article

Differential Inhibition of CYP17A1 and CYP21A2 Activities by the P450 Oxidoreductase Mutant A287P

scientific article published on 15 May 2007

Diminished 11β-hydroxysteroid dehydrogenase type 2 activity is associated with decreased weight and weight gain across the first year of life

scientific article

Disproportionate stature but normal height in hypochondroplasia

scientific article published on 15 March 2005

Early manifestation of calcinosis cutis in pseudohypoparathyroidism type Ia associated with a novel mutation in the GNAS gene

scientific article published in April 2005

Extensive Regulation of Diurnal Transcription and Metabolism by Glucocorticoids

scientific article

Extreme hyponatremia in an infant with congenital adrenal hypoplasia due to a novel NR0B1 (DAX-1) mutation

scientific article

Ferredoxin 1b (Fdx1b) Is the Essential Mitochondrial Redox Partner for Cortisol Biosynthesis in Zebrafish.

scientific article published on 9 December 2015

Ferredoxin 1b Deficiency Leads to Testis Disorganization, Impaired Spermatogenesis, and Feminization in Zebrafish

scientific article published on 01 October 2019

Four novel missense mutations in the CYP21A2 gene detected in Russian patients suffering from the classical form of congenital adrenal hyperplasia: identification, functional characterization, and structural analysis

scientific journal article

Functional and structural consequences of a novel point mutation in the CYP21A2 gene causing congenital adrenal hyperplasia: potential relevance of helix C for P450 oxidoreductase-21-hydroxylase interaction

scientific article published on 29 April 2008

Functional characterization of threeCYP21A2sequence variants (p.A265V, p.W302S, p.D322G) employing a yeast co-expression system

scientific article published on 01 February 2009

Functional characterization of two novel point mutations in the CYP21 gene causing simple virilizing forms of congenital adrenal hyperplasia due to 21-hydroxylase deficiency

scientific article published on 13 October 2004

Functional consequences of seven novel mutations in the CYP11B1 gene: four mutations associated with nonclassic and three mutations causing classic 11{beta}-hydroxylase deficiency

scientific article

Gas chromatography/mass spectrometry (GC/MS) remains a pre-eminent discovery tool in clinical steroid investigations even in the era of fast liquid chromatography tandem mass spectrometry (LC/MS/MS).

scientific article

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

scientific article published on 11 May 2021

Genetics of congenital adrenal hyperplasia

scientific article published on April 2009

Genotype-phenotype analysis in congenital adrenal hyperplasia due to P450 oxidoreductase deficiency

scientific article

Genotype-phenotype correlation in 153 adult patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency: analysis of the United Kingdom Congenital adrenal Hyperplasia Adult Study Executive (CaHASE) cohort

scientific article published on 21 January 2013

Glucocorticoid treatment regimen and health outcomes in adults with congenital adrenal hyperplasia ⬇️

scientific article published on February 1, 2013

Health problems in congenital adrenal hyperplasia due to 21-hydroxylase deficiency

scientific article published on 18 May 2011

Health status of adults with congenital adrenal hyperplasia: a cohort study of 203 patients

scientific article

Identification of a duplicated P450 side-chain cleavage enzyme (zCyp11a2) defines initiation and maintenance of steroidogenesis in zebrafish

Identification of a novel large CYP17A1 deletion by MLPA analysis in a family with classic 17α-hydroxylase deficiency.

scientific article published in January 2015

Identification of a novel mutation in the human mineralocorticoid receptor gene in a german family with autosomal-dominant pseudohypoaldosteronism type 1: further evidence for marked interindividual clinical heterogeneity

scientific article published in April 2003

Inactivating PAPSS2 mutations in a patient with premature pubarche

scientific article published in May 2009

Influence of 17-Hydroxyprogesterone, Progesterone and Sex Steroids on Mineralocorticoid Receptor Transactivation in Congenital Adrenal Hyperplasia

scientific article published on 15 April 2015

Initially elevated TSH and congenital central hypothyroidism due to a homozygous mutation of the TSH beta subunit gene: case report and review of the literature.

scientific article published on May 2006

Keeping the pressure on mineralocorticoid replacement in congenital adrenal hyperplasia

scientific article published on 20 February 2015

Long-term follow-up of spontaneous development in a boy with familial male precocious puberty

scientific article published on 15 September 2004

Low estriol levels in the maternal marker screen as a predictor of X-linked adrenal hypoplasia congenita: case report

scientific article published on 01 November 2014

Management of congenital adrenal hyperplasia: results of the ESPE questionnaire

scientific article published in January 2002

Modified-Release and Conventional Glucocorticoids and Diurnal Androgen Excretion in Congenital Adrenal Hyperplasia.

scientific article published in June 2017

Mothers with congenital adrenal hyperplasia and their children: outcome of pregnancy, birth and childhood

scientific article published on 01 October 2001

Multiplex minisequencing of the 21-hydroxylase gene as a rapid strategy to confirm congenital adrenal hyperplasia.

scientific article published in June 2002

No correlation between androgen receptor CAG and GGN repeat length and the degree of genital virilization in females with 21-hydroxylase deficiency.

scientific article published on 16 March 2010

Nonclassic lipoid congenital adrenal hyperplasia masquerading as familial glucocorticoid deficiency

scientific article

Novel H6PDH mutations in two girls with premature adrenarche: 'apparent' and 'true' CRD can be differentiated by urinary steroid profiling ⬇️

scientific article published on February 2013

Novel associations in disorders of sex development: findings from the I-DSD Registry

scientific article published on 03 December 2013

Population spectrum of ACADM genotypes correlated to biochemical phenotypes in newborn screening for medium-chain acyl-CoA dehydrogenase deficiency

scientific article

Predicting phenotype in steroid 21-hydroxylase deficiency? Comprehensive genotyping in 155 unrelated, well defined patients from southern Germany

scientific article published on 01 March 2000

Premature adrenarche: novel lessons from early onset androgen excess

scientific article published on 26 May 2011

Prenatal diagnosis of congenital adrenal hyperplasia caused by P450 oxidoreductase deficiency

scientific article published on 30 January 2013

Pubertal presentation in seven patients with congenital adrenal hyperplasia due to P450 oxidoreductase deficiency

scientific article

Quality of life in adults with congenital adrenal hyperplasia relates to glucocorticoid treatment, adiposity and insulin resistance: United Kingdom Congenital adrenal Hyperplasia Adult Study Executive (CaHASE).

scientific article published on 3 May 2013

Quantitative MRI brain in congenital adrenal hyperplasia: in vivo assessment of the cognitive and structural impact of steroid hormones.

scientific article published on 20 November 2017

Redefining the initiation and maintenance of zebrafish interrenal steroidogenesis by characterizing the key enzyme cyp11a2.

scientific article published on 13 May 2013

Relationship between final height and health outcomes in adults with congenital adrenal hyperplasia: United Kingdom congenital adrenal hyperplasia adult study executive (CaHASE).

scientific article published on 30 May 2014

Revealing a subclinical salt-losing phenotype in heterozygous carriers of the novel S562P mutation in the alpha subunit of the epithelial sodium channel.

scientific article published in February 2009

Society for Endocrinology UK guidance on the initial evaluation of an infant or an adolescent with a suspected disorder of sex development (Revised 2015).

scientific article published on 13 August 2015

Steroid 17alpha-hydroxylase deficiency: functional characterization of four mutations (A174E, V178D, R440C, L465P) in the CYP17A1 gene

scientific article

Steroid biochemistry

scientific article published on 09 September 2014

Testicular adrenal rest tumors develop independently of long-term disease control: a longitudinal analysis of 50 adult men with congenital adrenal hyperplasia due to classic 21-hydroxylase deficiency

scientific article published on 22 August 2013

The residue E351 is essential for the activity of human 21-hydroxylase: evidence from a naturally occurring novel point mutation compared with artificial mutants generated by single amino acid substitutions

scientific article published on 14 April 2005

Thirteen novel mutations in the NR0B1 (DAX1) gene as cause of adrenal hypoplasia congenita

scientific article

Three novel point mutations of the CYP21 gene detected in classical forms of congenital adrenal hyperplasia due to 21-hydroxylase deficiency

scientific article published on 01 March 2006

Treatment of pubertal gynecomastia with the specific aromatase inhibitor anastrozole

scientific article

UK guidance on the initial evaluation of an infant or an adolescent with a suspected disorder of sex development

scientific article

Urine steroid metabolomics as a biomarker tool for detecting malignancy in adrenal tumors

scientific article published on 14 September 2011

List of works by Nils Krone

46,XY disorder of sex development in a sudanese patient caused by a novel mutation in the HSD17B3 gene

5α-Reductase Type 2 Regulates Glucocorticoid Action and Metabolic Phenotype in Human Hepatocytes

A Novel Entity of Clinically Isolated Adrenal Insufficiency Caused by a Partially Inactivating Mutation of the Gene Encoding for P450 Side Chain Cleavage Enzyme (CYP11A1)

A diagnosis not to be missed: nonclassic steroid 11β-hydroxylase deficiency presenting with premature adrenarche and hirsutism

A missense mutation in the human cytochrome b5 gene causes 46,XY disorder of sex development due to true isolated 17,20 lyase deficiency

A novel frameshift mutation (141delT) in exon 1 of the 21-hydroxylase gene (CYP21) in a patient with the salt wasting form of congenital adrenal hyperplasia. Mutation in brief no. 255. Online

Absence of exercise-induced leptin suppression associated with insufficient epinephrine reserve in patients with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Adrenal Steroid Metabolites Accumulating in Congenital Adrenal Hyperplasia Lead to Transactivation of the Glucocorticoid Receptor

Adrenal function: An overlooked cause of glucocorticoid deficiency?

Adult consequences of congenital adrenal hyperplasia

Age-specific changes in sex steroid biosynthesis and sex development

Alternative pathway androgen biosynthesis and human fetal female virilization

Analyzing the functional and structural consequences of two point mutations (P94L and A368D) in the CYP11B1 gene causing congenital adrenal hyperplasia resulting from 11-hydroxylase deficiency

Autosomal-dominant pseudohypoaldosteronism type 1 in a Turkish family is associated with a novel nonsense mutation in the human mineralocorticoid receptor gene

Bidirectional crosstalk between Hypoxia-Inducible Factor and glucocorticoid signalling in zebrafish larvae

CYP21 mutations in simple virilizing congenital adrenal hyperplasia

Care provision in congenital adrenal hyperplasia - all doom and gloom or light at the end of the tunnel?

Causes, patterns and severity of androgen excess in 487 consecutively recruited pre- and post-pubertal children

Changes over time in sex assignment for disorders of sex development.

Characterization of the molecular genetic pathology in patients with 11β-hydroxylase deficiency

Comprehensive analytical strategy for mutation screening in 21-hydroxylase deficiency

Concomitant mutations in the P450 oxidoreductase and androgen receptor genes presenting with 46,XY disordered sex development and androgenization at adrenarche

Congenital adrenal hyperplasia and P450 oxidoreductase deficiency

Congenital adrenal hyperplasia due to 11-hydroxylase deficiency--insights from two novel CYP11B1 mutations (p.M92X, p.R453Q).

Congenital adrenal hyperplasia due to 11-hydroxylase deficiency: functional characterization of two novel point mutations and a three-base pair deletion in the CYP11B1 gene

Congenital adrenal hyperplasia: the molecular basis of 21-hydroxylase deficiency in H-2(aw18) mice

Current and novel approaches to children and young people with congenital adrenal hyperplasia and adrenal insufficiency

Cushing's syndrome in women with polycystic ovaries and hyperandrogenism

Delayed diagnosis of adrenal insufficiency in a patient with severe penoscrotal hypospadias due to two novel P450 side-change cleavage enzyme (CYP11A1) mutations (p.R360W; p.R405X)

Differential Inhibition of CYP17A1 and CYP21A2 Activities by the P450 Oxidoreductase Mutant A287P

Diminished 11β-hydroxysteroid dehydrogenase type 2 activity is associated with decreased weight and weight gain across the first year of life

Disproportionate stature but normal height in hypochondroplasia

Early manifestation of calcinosis cutis in pseudohypoparathyroidism type Ia associated with a novel mutation in the GNAS gene

Extensive Regulation of Diurnal Transcription and Metabolism by Glucocorticoids

Extreme hyponatremia in an infant with congenital adrenal hypoplasia due to a novel NR0B1 (DAX-1) mutation

Ferredoxin 1b (Fdx1b) Is the Essential Mitochondrial Redox Partner for Cortisol Biosynthesis in Zebrafish.

Ferredoxin 1b Deficiency Leads to Testis Disorganization, Impaired Spermatogenesis, and Feminization in Zebrafish

Four novel missense mutations in the CYP21A2 gene detected in Russian patients suffering from the classical form of congenital adrenal hyperplasia: identification, functional characterization, and structural analysis

Functional and structural consequences of a novel point mutation in the CYP21A2 gene causing congenital adrenal hyperplasia: potential relevance of helix C for P450 oxidoreductase-21-hydroxylase interaction

Functional characterization of threeCYP21A2sequence variants (p.A265V, p.W302S, p.D322G) employing a yeast co-expression system

Functional characterization of two novel point mutations in the CYP21 gene causing simple virilizing forms of congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Functional consequences of seven novel mutations in the CYP11B1 gene: four mutations associated with nonclassic and three mutations causing classic 11{beta}-hydroxylase deficiency

Gas chromatography/mass spectrometry (GC/MS) remains a pre-eminent discovery tool in clinical steroid investigations even in the era of fast liquid chromatography tandem mass spectrometry (LC/MS/MS).

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

Genetics of congenital adrenal hyperplasia

Genotype-phenotype analysis in congenital adrenal hyperplasia due to P450 oxidoreductase deficiency

Genotype-phenotype correlation in 153 adult patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency: analysis of the United Kingdom Congenital adrenal Hyperplasia Adult Study Executive (CaHASE) cohort

Glucocorticoid treatment regimen and health outcomes in adults with congenital adrenal hyperplasia ⬇️

Health problems in congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Health status of adults with congenital adrenal hyperplasia: a cohort study of 203 patients

Identification of a duplicated P450 side-chain cleavage enzyme (zCyp11a2) defines initiation and maintenance of steroidogenesis in zebrafish

Identification of a novel large CYP17A1 deletion by MLPA analysis in a family with classic 17α-hydroxylase deficiency.

Identification of a novel mutation in the human mineralocorticoid receptor gene in a german family with autosomal-dominant pseudohypoaldosteronism type 1: further evidence for marked interindividual clinical heterogeneity

Inactivating PAPSS2 mutations in a patient with premature pubarche

Influence of 17-Hydroxyprogesterone, Progesterone and Sex Steroids on Mineralocorticoid Receptor Transactivation in Congenital Adrenal Hyperplasia

Initially elevated TSH and congenital central hypothyroidism due to a homozygous mutation of the TSH beta subunit gene: case report and review of the literature.

Keeping the pressure on mineralocorticoid replacement in congenital adrenal hyperplasia

Long-term follow-up of spontaneous development in a boy with familial male precocious puberty

Low estriol levels in the maternal marker screen as a predictor of X-linked adrenal hypoplasia congenita: case report

Management of congenital adrenal hyperplasia: results of the ESPE questionnaire

Modified-Release and Conventional Glucocorticoids and Diurnal Androgen Excretion in Congenital Adrenal Hyperplasia.

Mothers with congenital adrenal hyperplasia and their children: outcome of pregnancy, birth and childhood

Multiplex minisequencing of the 21-hydroxylase gene as a rapid strategy to confirm congenital adrenal hyperplasia.

No correlation between androgen receptor CAG and GGN repeat length and the degree of genital virilization in females with 21-hydroxylase deficiency.

Nonclassic lipoid congenital adrenal hyperplasia masquerading as familial glucocorticoid deficiency

Novel H6PDH mutations in two girls with premature adrenarche: 'apparent' and 'true' CRD can be differentiated by urinary steroid profiling ⬇️

Novel associations in disorders of sex development: findings from the I-DSD Registry

Population spectrum of ACADM genotypes correlated to biochemical phenotypes in newborn screening for medium-chain acyl-CoA dehydrogenase deficiency

Predicting phenotype in steroid 21-hydroxylase deficiency? Comprehensive genotyping in 155 unrelated, well defined patients from southern Germany

Premature adrenarche: novel lessons from early onset androgen excess

Prenatal diagnosis of congenital adrenal hyperplasia caused by P450 oxidoreductase deficiency

Pubertal presentation in seven patients with congenital adrenal hyperplasia due to P450 oxidoreductase deficiency

Quality of life in adults with congenital adrenal hyperplasia relates to glucocorticoid treatment, adiposity and insulin resistance: United Kingdom Congenital adrenal Hyperplasia Adult Study Executive (CaHASE).

Quantitative MRI brain in congenital adrenal hyperplasia: in vivo assessment of the cognitive and structural impact of steroid hormones.

Redefining the initiation and maintenance of zebrafish interrenal steroidogenesis by characterizing the key enzyme cyp11a2.

Relationship between final height and health outcomes in adults with congenital adrenal hyperplasia: United Kingdom congenital adrenal hyperplasia adult study executive (CaHASE).

Revealing a subclinical salt-losing phenotype in heterozygous carriers of the novel S562P mutation in the alpha subunit of the epithelial sodium channel.

Society for Endocrinology UK guidance on the initial evaluation of an infant or an adolescent with a suspected disorder of sex development (Revised 2015).

Steroid 17alpha-hydroxylase deficiency: functional characterization of four mutations (A174E, V178D, R440C, L465P) in the CYP17A1 gene