Deletion of the V2 vasopressin receptor gene in two Chinese patients with nephrogenic diabetes insipidus (Q33263449)

24 July 2017

title

Deletion of the V2 vasopressin receptor gene in two Chinese patients with nephrogenic diabetes insipidus (English)

1 reference

nephrogenic diabetes insipidus

24 July 2017

0 references

1 reference

Yan Dong

1

1 reference

24 July 2017

Haihui Sheng

2

1 reference

24 July 2017

Xueru Chen

3

1 reference

24 July 2017

Jun Yin

4

1 reference

24 July 2017

Qing Su

5

1 reference

24 July 2017

language of work or name

1 reference

14 November 2006

1 reference

24 July 2017

1 reference

24 July 2017

volume

7

1 reference

24 July 2017

page(s)

53

1 reference

Structural variants: changing the landscape of chromosomes and design of disease studies

24 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1657029

Mutant G-protein-coupled receptors as a cause of human diseases

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1657029

Two novel types of contiguous gene deletion of the AVPR2 and ARHGAP4 genes in unrelated Japanese kindreds with nephrogenic diabetes insipidus.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1657029

Biochemical basis of partial nephrogenic diabetes insipidus phenotypes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1657029

Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1657029

PolyPhred: automating the detection and genotyping of single nucleotide substitutions using fluorescence-based resequencing

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1657029

An X chromosome-linked gene encoding a protein with characteristics of a rhoGAP predominantly expressed in hematopoietic cells

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1657029

Nature and recurrence of AVPR2 mutations in X-linked nephrogenic diabetes insipidus

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1657029

Cloning and characterization of a vasopressin V2 receptor and possible link to nephrogenic diabetes insipidus

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1657029

Molecular cloning of the receptor for human antidiuretic hormone

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1657029

Molecular identification of the gene responsible for congenital nephrogenic diabetes insipidus

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1657029

Allelic distributions of CYP2D6 gene copy number variation in the Eastern Han Chinese population

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1657029

Aminoglycoside pretreatment partially restores the function of truncated V(2) vasopressin receptors found in patients with nephrogenic diabetes insipidus

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1657029

Analysis of vasopressin receptor type II (V2R) gene in three Japanese pedigrees with congenital nephrogenic diabetes insipidus: identification of a family with complete deletion of the V2R gene

31 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/17101063

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Compound deletion of the rhoGAP C1 and V2 vasopressin receptor genes in a patient with nephrogenic diabetes insipidus

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/17101063

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/17101063

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/1471-2156-7-53

1 reference

Dimensions Publication ID

24 July 2017

1 reference

https://scigraph.springernature.com/pub.10.1186/1471-2156-7-53

9 September 2019

1 reference

24 July 2017

1 reference