Analysis of a novel AVPR2 mutation in a family with nephrogenic diabetes insipidus (Q34625582)

3 August 2017

title

Analysis of a novel AVPR2 mutation in a family with nephrogenic diabetes insipidus (English)

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3 August 2017

Sung-Dae Moon

1

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3 August 2017

Ju-Hee Kim

2

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3 August 2017

Joo-Yun Shim

3

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3 August 2017

Dong-Jun Lim

4

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3 August 2017

Bong-Yun Cha

5

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3 August 2017

Je-Ho Han

6

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3 August 2017

publication date

30 November 2010

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International Journal of Clinical and Experimental Medicine

3 August 2017

published in

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3 August 2017

volume

4

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3 August 2017

issue

1

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3 August 2017

page(s)

1-9

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Novel compound heterozygous mutations in the fructose-1,6-bisphosphatase gene cause hypoglycemia and lactic acidosis

3 August 2017

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7 July 2018

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

7 July 2018

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7 July 2018

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Association of calnexin with wild type and mutant AVPR2 that causes nephrogenic diabetes insipidus.

7 July 2018

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Nephrogenic diabetes insipidus.

7 July 2018

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V2 vasopressin receptor dysfunction in nephrogenic diabetes insipidus caused by different molecular mechanisms.

7 July 2018

1 reference

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

7 July 2018

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Biochemical basis of partial nephrogenic diabetes insipidus phenotypes

7 July 2018

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An X-linked NDI mutation reveals a requirement for cell surface V2R expression

7 July 2018

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A fully active nonglycosylated V2 vasopressin receptor

7 July 2018

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Cognitive and psychosocial functioning of patients with congenital nephrogenic diabetes insipidus.

7 July 2018

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Functional rescue of mutant V2 vasopressin receptors causing nephrogenic diabetes insipidus by a co-expressed receptor polypeptide

7 July 2018

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Binding-, intracellular transport-, and biosynthesis-defective mutants of vasopressin type 2 receptor in patients with X-linked nephrogenic diabetes insipidus

7 July 2018

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

7 July 2018

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Molecular cloning of the receptor for human antidiuretic hormone

7 July 2018

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Structure and chromosomal localization of the human antidiuretic hormone receptor gene

7 July 2018

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Molecular identification of the gene responsible for congenital nephrogenic diabetes insipidus

7 July 2018

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Novel vasopressin type 2 (AVPR2) gene mutations in Brazilian nephrogenic diabetes insipidus patients.

7 July 2018

1 reference

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N-terminal truncation circumvents proteolytic degradation of the human HtrA2/Omi serine protease in Escherichia coli: rapid purification of a proteolytically active HtrA2/Omi

26 October 2018

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Identification of mutations in the arginine vasopressin receptor 2 gene causing nephrogenic diabetes insipidus in Chinese patients

26 October 2018

1 reference

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Autosomal recessive nephrogenic diabetes insipidus caused by an aquaporin-2 mutation

26 October 2018

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12 December 2020

Functional characterization of the molecular defects causing nephrogenic diabetes insipidus in eight families

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12 December 2020

[Hereditary nephrogenic diabetes insipidus]

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12 December 2020

Nephrogenic diabetes insipidus: functional analysis of new AVPR2 mutations identified in Italian families

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12 December 2020

Maturation of receptor proteins in eukaryotic expression systems

1 reference

12 December 2020

Identifiers

PMC publication ID

3048978

1 reference

3 August 2017

1 reference