(Q35198427)

7 August 2017

title

An exonic point mutation of the androgen receptor gene in a family with complete androgen insensitivity (English)

1 reference

7 August 2017

T J Sai

1

1 reference

7 August 2017

S Seino

2

1 reference

7 August 2017

C S Chang

3

1 reference

7 August 2017

M Trifiro

4

1 reference

7 August 2017

L Pinsky

5

1 reference

7 August 2017

A Mhatre

6

1 reference

7 August 2017

M Kaufman

7

1 reference

7 August 2017

B Lambert

8

1 reference

7 August 2017

J Trapman

9

1 reference

7 August 2017

A O Brinkmann

10

1 reference

7 August 2017

language of work or name

English

0 references

publication date

1 June 1990

1 reference

American Journal of Human Genetics

7 August 2017

published in

1 reference

7 August 2017

volume

46

1 reference

7 August 2017

issue

6

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7 August 2017

page(s)

1095-1100

1 reference

Studies of the locus for androgen receptor: localization on the human X chromosome and evidence for homology with the Tfm locus in the mouse

7 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683844

Expression of a mutant androgen receptor in cloned fibroblasts derived from a heterozygous carrier for the syndrome of testicular feminization

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683844

Cloning in single-stranded bacteriophage as an aid to rapid DNA sequencing

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683844

Genetics of steroid receptors and their disorders

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683844

DNA studies in a family with Duchenne muscular dystrophy and a deletion at Xp21.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683844

Cloning, structure and expression of a cDNA encoding the human androgen receptor

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683844

Deletion of the steroid-binding domain of the human androgen receptor gene in one family with complete androgen insensitivity syndrome: evidence for further genetic heterogeneity in this syndrome

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683844

Structural analysis of complementary DNA and amino acid sequences of human and rat androgen receptors

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683844

The N-terminal domain of the human androgen receptor is encoded by one, large exon

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683844

Characterization and expression of a cDNA encoding the human androgen receptor

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683844

Sequence of the intron/exon junctions of the coding region of the human androgen receptor gene and identification of a point mutation in a family with complete androgen insensitivity

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683844

Androgen receptor locus on the human X chromosome: regional localization to Xq11-12 and description of a DNA polymorphism

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683844

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683844

Male pseudohermaphroditism: diagnosis in cell culture

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683844

Male pseudohermaphroditism presumably due to target organ unresponsiveness to androgens. Deficient 5alpha-dihydrotestosterone binding in cultured skin fibroblasts

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683844

Locus on human X chromosome for dihydrotestosterone receptor and androgen insensitivity

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683844

The human androgen receptor: complementary deoxyribonucleic acid cloning, sequence analysis and gene expression in prostate.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683844

Human complete androgen insensitivity with normal dihydrotestosterone receptor binding capacity in cultured genital skin fibroblasts: evidence for a qualitative abnormality of the receptor

26 September 2018

1 reference

12 December 2020

Glucocorticoid receptor mutants that are constitutive activators of transcriptional enhancement

1 reference

12 December 2020

Colocalization of DNA-binding and transcriptional activation functions in the human glucocorticoid receptor

1 reference

12 December 2020

Linkage analysis with RFLPs in families with androgen resistance syndromes: evidence for close linkage between the androgen receptor locus and the DXS1 segment

1 reference

12 December 2020

Identifiers

PMC publication ID

1683844

1 reference

7 August 2017

1 reference