Hereditary nephrogenic diabetes insipidus in Japanese patients: analysis of 78 families and report of 22 new mutations in AVPR2 and AQP2 (Q85428926)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23150186%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

title

Hereditary nephrogenic diabetes insipidus in Japanese patients: analysis of 78 families and report of 22 new mutations in AVPR2 and AQP2 (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23150186%20AND%20SRC:MED&resulttype=core&format=json

nephrogenic diabetes insipidus

17 February 2020

main subject

1 reference

Sei Sasaki

1

1 reference

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17 February 2020

Motoko Chiga

2

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17 February 2020

Eriko Kikuchi

3

1 reference

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17 February 2020

Tatemitsu Rai

4

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17 February 2020

Shinichi Uchida

5

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17 February 2020

publication date

14 November 2012

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Clinical and experimental nephrology

17 February 2020

published in

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17 February 2020

volume

17

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17 February 2020

issue

3

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17 February 2020

page(s)

338-344

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https://scigraph.springernature.com/pub.10.1007/s10157-012-0726-z

17 February 2020

exact match

0 references

cites work

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

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

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

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

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

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12 December 2020

A case of nephrogenic diabetes insipidus with a novel missense mutation in the AVPR2 gene

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12 December 2020

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

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12 December 2020

Lack of arginine vasopressin-induced phosphorylation of aquaporin-2 mutant AQP2-R254L explains dominant nephrogenic diabetes insipidus

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Identification of two novel aquaporin-2 mutations in a Thai girl with congenital nephrogenic diabetes insipidus

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12 December 2020

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

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Two Novel Aquaporin-2 Mutations in a Sporadic Japanese Patient with Autosomal Recessive Nephrogenic Diabetes Insipidus

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Reversed polarized delivery of an aquaporin-2 mutant causes dominant nephrogenic diabetes insipidus

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Water intake and 24-hour blood pressure monitoring in a patient with nephrogenic diabetes insipidus caused by a novel mutation of the vasopressin V2R gene

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

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p.R254Q mutation in the aquaporin-2 water channel causing dominant nephrogenic diabetes insipidus is due to a lack of arginine vasopressin-induced phosphorylation.

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Pathogenesis and treatment of autosomal-dominant nephrogenic diabetes insipidus caused by an aquaporin 2 mutation

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Clinical characteristics of eight patients with congenital nephrogenic diabetes insipidus

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Congenital nephrogenic diabetes insipidus: the current state of affairs

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12 December 2020

Partial nephrogenic diabetes insipidus caused by a novel mutation in the AVPR2 gene.

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12 December 2020

Pathogenesis of nephrogenic diabetes insipidus by aquaporin-2 C-terminus mutations

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12 December 2020