Immunological profile in a family with nephrogenic diabetes insipidus with a novel 11 kb deletion in AVPR2 and ARHGAP4 genes (Q33335976)

25 July 2017

Immunological profile in a family with nephrogenic diabetes insipidus with a novel 11 kb deletion in AVPR2 and ARHGAP4 genes (English)

1 reference

nephrogenic diabetes insipidus

25 July 2017

1 reference

1 reference

Kohsuke Imai

2

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author name string

Masaya Fujimoto

1

1 reference

25 July 2017

Kenji Hirata

3

1 reference

25 July 2017

Reiichi Kashiwagi

4

1 reference

25 July 2017

Yoichi Morinishi

5

1 reference

25 July 2017

Katsuhiko Kitazawa

6

1 reference

25 July 2017

Sei Sasaki

7

1 reference

25 July 2017

Tadao Arinami

8

1 reference

25 July 2017

Shigeaki Nonoyama

9

1 reference

25 July 2017

Emiko Noguchi

10

1 reference

25 July 2017

language of work or name

1 reference

20 May 2008

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25 July 2017

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25 July 2017

9

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25 July 2017

42

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https://scigraph.springernature.com/pub.10.1186/1471-2350-9-42

25 July 2017

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cites work

ARHGAP4 is a novel RhoGAP that mediates inhibition of cell motility and axon outgrowth

1 reference

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Cross platform microarray analysis for robust identification of differentially expressed genes

21 June 2018

1 reference

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Deletion of the V2 vasopressin receptor gene in two Chinese patients 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=2413213

Cell biological aspects of the vasopressin type-2 receptor and aquaporin 2 water channel in 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=2413213

The physiological regulation of thirst and fluid intake

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2413213

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=2413213

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2413213

Phosphorylation of serine 256 is required for cAMP-dependent regulatory exocytosis of the aquaporin-2 water channel

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2413213

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2413213

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=2413213

Heterogeneous AVPR2 gene mutations in 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=2413213

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2413213

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=2413213

Increased cell division but not thymic dysfunction rapidly affects the T-cell receptor excision circle content of the naive T cell population in HIV-1 infection

21 June 2018

1 reference

Crossref

https://api.crossref.org/works/10.1186%2F1471-2350-9-42

Age-matched lymphocyte subpopulation reference values in childhood and adolescence: application of exponential regression analysis.

21 January 2018

1 reference

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

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2413213

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

12 December 2020

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

1 reference

12 December 2020

Severe combined immunodeficiency associated with nephrogenic diabetes insipidus and a deletion in the Xq28 region

1 reference

12 December 2020

Contiguous gene deletion involving L1CAM and AVPR2 causes X-linked hydrocephalus with nephrogenic diabetes insipidus

1 reference

12 December 2020

Identifiers

DOI

10.1186/1471-2350-9-42

1 reference

Dimensions Publication ID

25 July 2017

0 references

1 reference

25 July 2017

1 reference