Molecular genetics of steroid 5 alpha-reductase 2 deficiency (Q24619385)

4

object named as

B. B. Mendonca

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4 October 2022

author name string

A. E. Thigpen

1

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4 October 2022

D. L. Davis

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4 October 2022

A. Milatovich

3

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4 October 2022

J. Imperato-McGinley

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4 October 2022

J. E. Griffin

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4 October 2022

U. Francke

7

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4 October 2022

J. D. Wilson

8

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4 October 2022

D. W. Russell

9

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full work available at URL

4 October 2022

language of work or name

English

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publication date

September 1992

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https://europepmc.org/articles/PMC329933

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https://europepmc.org/articles/PMC329933?pdf=render

4 October 2022

file format

Portable Document Format

online access status

open access

content deliverer

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1522235

Journal of Clinical Investigation

4 October 2022

published in

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volume

90

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page(s)

799-809

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issue

3

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1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329933

Structural and biochemical properties of cloned and expressed human and rat steroid 5 alpha-reductases

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329933

Deletion of steroid 5 alpha-reductase 2 gene in male pseudohermaphroditism

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329933

Characterization and chromosomal mapping of a human steroid 5 alpha-reductase gene and pseudogene and mapping of the mouse homologue

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329933

Genetic and pharmacological evidence for more than one human steroid 5 alpha-reductase

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329933

Rapid and efficient site-specific mutagenesis without phenotypic selection

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329933

Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329933

The measurement of triphosphopyridine nucleotide and reduced triphosphopyridine nucleotide and the role of hemoglobin in producing erroneous triphosphopyridine nucleotide values

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329933

The CpG dinucleotide and human genetic disease

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329933

Cloning, structure, and expression of the mitochondrial cytochrome P-450 sterol 26-hydroxylase, a bile acid biosynthetic enzyme

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329933

Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329933

Gene for lymphoid enhancer-binding factor 1 (LEF1) mapped to human chromosome 4 (q23–q25) and mouse chromosome 3 near Egf

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329933

Four-amino acid segment in steroid 5 alpha-reductase 1 confers sensitivity to finasteride, a competitive inhibitor

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329933

Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329933

High dose androgen therapy in male pseudohermaphroditism due to 5 alpha-reductase deficiency and disorders of the androgen receptor

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329933

The endocrine control of sexual differentiation.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329933

Steroid 5alpha-reductase deficiency in man: an inherited form of male pseudohermaphroditism

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329933

Delineation of individual human chromosomes in metaphase and interphase cells by in situ suppression hybridization using recombinant DNA libraries

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329933

Mutations that alter the primary structure of type I collagen. The perils of a system for generating large structures by the principle of nucleated growth

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329933

High Resolution of Human Chromosomes

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329933

Clinical, Endocrinological, and Enzymatic Characterization of Two Patients with 5α-Reductase Deficiency: Evidence that a Single Enzyme Is Responsible for the 5α-Reduction of Cortisol and Testosterone*

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329933

In VitroSteroid Metabolic Studies in Testicular 17β-Reduction Deficiency

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329933

Hereditary Male Pseudohermaphroditism Associated with an Unstable Form of 5α-Reductase

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329933

Steroid 5alpha-reductase in cultured human fibroblasts. Biochemical and genetic evidence for two distinct enzyme activities

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329933

Familial incomplete male pseudohermaphroditism, type 2. Decreased dihydrotestosterone formation in pseudovaginal perineoscrotal hypospadias.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329933

Urinary steroid metabolites in subjects with male pseudohermaphroditism due to 5 alpha-reductase deficiency.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329933

Pseudovaginal perineoscrotal hypospadias. Clinical, endocrinological and biochemical characterization of a patient.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329933

A cluster of male pseudohermaphrodites with 5α-reductase deficiency in Papua New Guinea

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329933

Male pseudohermaphroditism secondary to 5α-reductase deficiency—A model for the role of androgens in both the development of the male phenotype and the evolution of a male gender identity

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329933

Male pseudohermaphroditism due to steroid 5-alpha-reductase deficiency

30 May 2018

1 reference

12 December 2020

Steroid 5 alpha-reductase deficiency in a 65-year-old male pseudohermaphrodite: the natural history, ultrastructure of the testes, and evidence for inherited enzyme heterogeneity

1 reference

12 December 2020

Characterization of the testicular abnormality in 5 alpha-reductase deficiency

1 reference

12 December 2020

Alternative Dideoxy Sequencing of Double-Stranded DNA by Cyclic Reactions Using Taq Polymerase

1 reference

12 December 2020

Variable expression of 5 alpha-reductase deficiency: presentation with male phenotype in a child of Greek origin

1 reference

12 December 2020

Chromosomal mapping of genes involved in growth control

1 reference

12 December 2020

Oligonucleotide-Directed Mutagenesis: A Simple Method Using Two Oligonucleotide Primers and a Single-Stranded DNA Template

1 reference

12 December 2020

Familial male pseudohermaphroditism due to deficiency of 5 alpha-reductase

1 reference

12 December 2020

Sexual differentiation

1 reference

12 December 2020

Dihydrotestosterone Formation in Fetal Tissues of the Rabbit and Rat

1 reference

12 December 2020