(Q44885653)

English

A novel deletion mutation in the arginine vasopressin receptor 2 gene and skewed X chromosome inactivation in a female patient with congenital nephrogenic diabetes insipidus

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scholarly article

1 reference

Europe PubMed Central

7 December 2017

A novel deletion mutation in the arginine vasopressin receptor 2 gene and skewed X chromosome inactivation in a female patient with congenital nephrogenic diabetes insipidus (English)

1 reference

Europe PubMed Central

7 December 2017

0 references

author name string

K Kinoshita

1

1 reference

Europe PubMed Central

7 December 2017

Y Miura

2

1 reference

Europe PubMed Central

7 December 2017

H Nagasaki

3

1 reference

Europe PubMed Central

7 December 2017

T Murase

4

1 reference

Europe PubMed Central

7 December 2017

Y Bando

5

1 reference

Europe PubMed Central

7 December 2017

Y Oiso

6

1 reference

Europe PubMed Central

7 December 2017

publication date

1 February 2004

1 reference

Europe PubMed Central

7 December 2017

Journal of Endocrinological Investigation

1 reference

Europe PubMed Central

7 December 2017

27

1 reference

Europe PubMed Central

7 December 2017

2

1 reference

Europe PubMed Central

7 December 2017

167-170

1 reference

Europe PubMed Central

7 December 2017

https://scigraph.springernature.com/pub.10.1007/bf03346263

0 references

Requirement of human renal water channel aquaporin-2 for vasopressin-dependent concentration of urine

1 reference

https://api.crossref.org/works/10.1007%2FBF03346263

21 January 2018

Molecular cloning of the receptor for human antidiuretic hormone

1 reference

https://api.crossref.org/works/10.1007%2FBF03346263

21 January 2018

Localization of the gene for X-linked nephrogenic diabetes insipidus to Xq28.

1 reference

https://api.crossref.org/works/10.1007%2FBF03346263

21 January 2018

Molecular identification of the gene responsible for congenital nephrogenic diabetes insipidus

1 reference

https://api.crossref.org/works/10.1007%2FBF03346263

21 January 2018

An aquaporin-2 water channel mutant which causes autosomal dominant nephrogenic diabetes insipidus is retained in the Golgi complex

1 reference

https://api.crossref.org/works/10.1007%2FBF03346263

21 January 2018

Three families with autosomal dominant nephrogenic diabetes insipidus caused by aquaporin-2 mutations in the C-terminus.

1 reference

https://api.crossref.org/works/10.1007%2FBF03346263

21 January 2018

Heteroligomerization of an Aquaporin-2 mutant with wild-type Aquaporin-2 and their misrouting to late endosomes/lysosomes explains dominant nephrogenic diabetes insipidus

1 reference

https://api.crossref.org/works/10.1007%2FBF03346263

21 January 2018

Nephrogenic diabetes insipidus.

1 reference

https://api.crossref.org/works/10.1007%2FBF03346263

21 January 2018

Clinical phenotype of nephrogenic diabetes insipidus in females heterozygous for a vasopressin type 2 receptor mutation

1 reference

https://api.crossref.org/works/10.1007%2FBF03346263

21 January 2018

Characterization and expression of a cDNA encoding the human androgen receptor

1 reference

https://api.crossref.org/works/10.1007%2FBF03346263

21 January 2018

Molecular and cellular defects in nephrogenic diabetes insipidus

1 reference

https://api.crossref.org/works/10.1007%2FBF03346263

21 January 2018

Aggravation of subclinical diabetes insipidus during pregnancy.

1 reference

https://api.crossref.org/works/10.1007%2FBF03346263

21 January 2018

Report of 33 novel AVPR2 mutations and analysis of 117 families with X-linked nephrogenic diabetes insipidus

1 reference

https://pubmed.ncbi.nlm.nih.gov/15129813

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Patients with autosomal nephrogenic diabetes insipidus homozygous for mutations in the aquaporin 2 water-channel gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/15129813

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Novel mutations in the V2 vasopressin receptor gene in two pedigrees with congenital nephrogenic diabetes insipidus

1 reference

https://pubmed.ncbi.nlm.nih.gov/15129813

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Proposed cause of marked vasopressin resistance in a female with an X-linked recessive V2 receptor abnormality

1 reference

https://pubmed.ncbi.nlm.nih.gov/15129813

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation

1 reference

https://pubmed.ncbi.nlm.nih.gov/15129813

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Structure and chromosomal localization of the human antidiuretic hormone receptor gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/15129813

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Detection of skewed X-inactivation in two female carriers of vasopressin type 2 receptor gene mutation.

1 reference

https://pubmed.ncbi.nlm.nih.gov/15129813

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/BF03346263

1 reference

Europe PubMed Central

7 December 2017

1 reference

Europe PubMed Central

7 December 2017

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