(Q34766752)

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

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scholarly article

1 reference

Europe PubMed Central

4 August 2017

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

1 reference

Europe PubMed Central

4 August 2017

Maria Szarras-Czapnik

5

object named as

Maria Szarras-Czapnik

0 references

object named as

Jan Idkowiak

1

0 references

object named as

Nils Krone

10

0 references

object named as

Wiebke Arlt

11

0 references

9

object named as

Ieuan A Hughes

1 reference

Europe PubMed Central

4 August 2017

Cedric H L Shackleton

7

object named as

Cedric H L Shackleton

1 reference

Europe PubMed Central

4 August 2017

3

object named as

Vivek Dhir

1 reference

Europe PubMed Central

4 August 2017

author name string

Ewa M Malunowicz

2

1 reference

Europe PubMed Central

4 August 2017

Nicole Reisch

4

1 reference

Europe PubMed Central

4 August 2017

Donna M Holmes

6

1 reference

Europe PubMed Central

4 August 2017

John D Davies

8

1 reference

Europe PubMed Central

4 August 2017

language of work or name

0 references

publication date

21 April 2010

1 reference

Europe PubMed Central

4 August 2017

The Journal of Clinical Endocrinology and Metabolism

1 reference

Europe PubMed Central

4 August 2017

95

1 reference

Europe PubMed Central

4 August 2017

7

1 reference

Europe PubMed Central

4 August 2017

3418-3427

1 reference

Europe PubMed Central

4 August 2017

Nonclassic lipoid congenital adrenal hyperplasia masquerading as familial glucocorticoid deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071629

7 July 2018

Genetics of congenital adrenal hyperplasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071629

7 July 2018

Adrenal changes associated with adrenarche

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071629

7 July 2018

46,XY disorders of sex development (DSD).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071629

7 July 2018

Cytochrome b5 expression in gonadectomy-induced adrenocortical neoplasms of the domestic ferret (Mustela putorius furo).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071629

7 July 2018

Disorders of sex development: a new definition and classification

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071629

7 July 2018

Genetics of P450 oxidoreductase: sequence variation in 842 individuals of four ethnicities and activities of 15 missense mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071629

7 July 2018

Adrenal gland tumorigenesis after gonadectomy in mice is a complex genetic trait driven by epistatic loci

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071629

7 July 2018

Clinical, structural and functional implications of mutations and polymorphisms in human NADPH P450 oxidoreductase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071629

7 July 2018

Phenotypic variability in 17beta-hydroxysteroid dehydrogenase-3 deficiency and diagnostic pitfalls.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071629

7 July 2018

Congenital adrenal hyperplasia and P450 oxidoreductase deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071629

7 July 2018

Male infertility and androgen receptor gene mutations: clinical features and identification of seven novel mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071629

7 July 2018

Gender change in 46,XY persons with 5alpha-reductase-2 deficiency and 17beta-hydroxysteroid dehydrogenase-3 deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071629

7 July 2018

Adrenocortical tumorigenesis in transgenic mice expressing the inhibin alpha-subunit promoter/simian virus 40 T-antigen transgene: relationship between ectopic expression of luteinizing hormone receptor and transcription factor GATA-4.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071629

7 July 2018

Congenital adrenal hyperplasia caused by mutant P450 oxidoreductase and human androgen synthesis: analytical study

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071629

7 July 2018

Adrenarche - physiology, biochemistry and human disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071629

7 July 2018

Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071629

7 July 2018

Activin induces x-zone apoptosis that inhibits luteinizing hormone-dependent adrenocortical tumor formation in inhibin-deficient mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071629

7 July 2018

The use of androgen receptor amino/carboxyl-terminal interaction assays to investigate androgen receptor gene mutations in subjects with varying degrees of androgen insensitivity.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071629

7 July 2018

Significance of mutations in the androgen receptor gene in males with idiopathic infertility

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071629

7 July 2018

Azoospermia associated with a mutation in the ligand-binding domain of an androgen receptor displaying normal ligand binding, but defective trans-activation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071629

7 July 2018

Cytochrome b5 augments the 17,20-lyase activity of human P450c17 without direct electron transfer

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071629

7 July 2018

Three-dimensional structure of NADPH-cytochrome P450 reductase: prototype for FMN- and FAD-containing enzymes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071629

7 July 2018

Functional analysis of six androgen receptor mutations identified in patients with partial androgen insensitivity syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071629

7 July 2018

A (R80Q) mutation in 17 beta-hydroxysteroid dehydrogenase type 3 gene among Arabs of Israel is associated with pseudohermaphroditism in males and normal asymptomatic females

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071629

7 July 2018

Androgen receptor defects: historical, clinical, and molecular perspectives

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071629

7 July 2018

Dissociation of adrenarche and gonadarche in precocious puberty and in isolated hypogonadotropic hypogonadism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071629

7 July 2018

Androgen receptor gene mutations identified by SSCP in fourteen subjects with androgen insensitivity syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071629

7 July 2018

Circulating Concentrations of Dehydroepiandrosterone and Dehydroepiandrosterone Sulfate During Puberty

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071629

7 July 2018

Pharmacogenetics of P450 oxidoreductase: effect of sequence variants on activities of CYP1A2 and CYP2C19.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071629

26 October 2018

Human androgen receptor gene ligand-binding-domain mutations leading to disrupted interaction between the N- and C-terminal domains.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071629

26 October 2018

The valine allele of the V89L polymorphism in the 5-alpha-reductase gene confers a reduced risk for hypospadias

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071629

26 October 2018

5alpha-androstane-3alpha,17beta-diol is formed in tammar wallaby pouch young testes by a pathway involving 5alpha-pregnane-3alpha,17alpha-diol-20-one as a key intermediate

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071629

26 October 2018

Developmental changes in steroidogenic enzymes in human postnatal adrenal cortex: immunohistochemical studies.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071629

26 October 2018

The clinical and molecular spectrum of androgen insensitivity syndromes.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071629

26 October 2018

Biochemical diagnosis of Antley-Bixler syndrome by steroid analysis

1 reference

https://pubmed.ncbi.nlm.nih.gov/20410220

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Outcome studies among men with micropenis

1 reference

https://pubmed.ncbi.nlm.nih.gov/20410220

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Evidence for dissociation between adrenarche and gonadarche: studies in patients with idiopathic precocious puberty, gonadal dysgenesis, isolated gonadotropin deficiency, and constitutionally delayed growth and adolescence

1 reference

https://pubmed.ncbi.nlm.nih.gov/20410220

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Urine steroid hormone profile analysis in cytochrome P450 oxidoreductase deficiency: implication for the backdoor pathway to dihydrotestosterone

1 reference

https://pubmed.ncbi.nlm.nih.gov/20410220

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/20410220

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

46,XY disorders of sex development (DSD)

1 reference

https://pubmed.ncbi.nlm.nih.gov/20410220

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1210/JC.2010-0058

1 reference

Europe PubMed Central

4 August 2017

release_gbg4d2pfcralboz7neaaxqef3u

1 reference

https://api.fatcat.wiki/v0/release/gbg4d2pfcralboz7neaaxqef3u

24 November 2022

based on heuristic

mapped directly with Wikidata item

1 reference

Europe PubMed Central

4 August 2017

1 reference

Europe PubMed Central

4 August 2017

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