(Q39611489)

13 September 2017

Mutations in the AVPR2, AVP-NPII, and AQP2 genes in Turkish patients with diabetes insipidus (English)

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13 September 2017

Duygu Duzenli

1

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13 September 2017

Emel Saglar

2

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13 September 2017

Ferhat Deniz

3

1 reference

13 September 2017

Omer Azal

4

1 reference

13 September 2017

Beril Erdem

5

1 reference

13 September 2017

Hatice Mergen

6

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13 September 2017

29 May 2012

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13 September 2017

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13 September 2017

42

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13 September 2017

664-669

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13 September 2017

3

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https://scigraph.springernature.com/pub.10.1007/s12020-012-9704-1

13 September 2017

0 references

cites work

Identification, characterization and rescue of a novel vasopressin-2 receptor mutation causing nephrogenic diabetes insipidus

1 reference

https://api.crossref.org/works/10.1007%2FS12020-012-9704-1

Molecular biology of hereditary diabetes insipidus.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12020-012-9704-1

Lithium toxicity: an iatrogenic problem in susceptible individuals

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12020-012-9704-1

Molecular and cellular defects in nephrogenic diabetes insipidus

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12020-012-9704-1

Clinical characteristics of eight patients with congenital nephrogenic diabetes insipidus

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12020-012-9704-1

V2R mutations and nephrogenic diabetes insipidus.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12020-012-9704-1

X inactivation, female mosaicism, and sex differences in renal diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12020-012-9704-1

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12020-012-9704-1

AVPR2 variants and mutations in nephrogenic diabetes insipidus: review and missense mutation significance

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12020-012-9704-1

Novel mutations in the V2 vasopressin receptor gene of patients with X-linked nephrogenic diabetes insipidus

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12020-012-9704-1

A missense mutation encoding Cys73Phe in neurophysin II is associated with autosomal dominant neurohypophyseal diabetes insipidus

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12020-012-9704-1

Functional characterization of novel loss-of-function mutations in the vasopressin type 2 receptor gene causing nephrogenic diabetes insipidus.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12020-012-9704-1

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12020-012-9704-1

Characterization of D150E and G196D aquaporin-2 mutations responsible for nephrogenic diabetes insipidus: importance of a mild phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12020-012-9704-1

Autophagy in hypothalamic neurones of rats expressing a familial neurohypophysial diabetes insipidus transgene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12020-012-9704-1

Autosomal dominant neurohypophyseal diabetes insipidus in two families. Molecular analysis of the vasopressin-neurophysin II gene and functional studies of three missense mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12020-012-9704-1

A single base substitution in the coding region for neurophysin II associated with familial central diabetes insipidus

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12020-012-9704-1

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

21 January 2018

1 reference

12 December 2020

Diabetes insipidus: diagnosis and treatment of a complex disease.

1 reference

12 December 2020

The evolutionary origin of the vasopressin/V2-type receptor/aquaporin axis and the urine-concentrating mechanism

1 reference

12 December 2020

Diabetes insipidus: clinical and basic aspects

1 reference

12 December 2020

Mutations in the vasopressin V2 receptor and aquaporin-2 genes in 12 families with congenital nephrogenic diabetes insipidus

1 reference

12 December 2020

New mutations in the AQP2 gene in nephrogenic diabetes insipidus resulting in functional but misrouted water channels

1 reference

12 December 2020

Autosomal dominant neurohypophyseal diabetes insipidus due to substitution of histidine for tyrosine(2) in the vasopressin moiety of the hormone precursor

1 reference

12 December 2020

Defective processing and trafficking of water channels in nephrogenic diabetes insipidus

1 reference

12 December 2020

Autosomal dominant familial neurohypophyseal diabetes insipidus

1 reference

12 December 2020

10.1007/S12020-012-9704-1

Identifiers

DOI

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13 September 2017

1 reference