Identification of two novel aquaporin-2 mutations in a Thai girl with congenital nephrogenic diabetes insipidus (Q44315108)

1 December 2017

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

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1 December 2017

Taninee Sahakitrungruang

1

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1 December 2017

Suttipong Wacharasindhu

2

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1 December 2017

Thivaratana Sinthuwiwat

3

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1 December 2017

Vichit Supornsilchai

4

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1 December 2017

Kanya Suphapeetiporn

5

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1 December 2017

Vorasuk Shotelersuk

6

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1 December 2017

1 April 2008

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1 December 2017

33

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2

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210-214

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https://scigraph.springernature.com/pub.10.1007/s12020-008-9074-x

1 December 2017

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cites work

Cell-biologic and functional analyses of five new Aquaporin-2 missense mutations that cause recessive nephrogenic diabetes insipidus.

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12 December 2020

Nutritional regulation of the insulin-like growth factors

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12 December 2020

Novel mutations in aquaporin-2 gene in female siblings with nephrogenic diabetes insipidus: evidence of disrupted water channel function

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12 December 2020

Clinical presentation and follow-up of 30 patients with congenital nephrogenic diabetes insipidus

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12 December 2020

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

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12 December 2020

Mutation characterization of CFTR gene in 206 Northern Irish CF families: thirty mutations, including two novel, account for approximately 94% of CF chromosomes

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12 December 2020

Heteroligomerization of an Aquaporin-2 mutant with wild-type Aquaporin-2 and their misrouting to late endosomes/lysosomes explains dominant nephrogenic diabetes insipidus

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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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12 December 2020

Nephrogenic diabetes insipidus.

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12 December 2020

Identification of seven novel missense mutations, two splice-site mutations, two microdeletions and a polymorphic amino acid substitution in the gene for ornithine transcarbamylase (OTC) in patients with OTC deficiency

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12 December 2020

Molecular cloning of the receptor for human antidiuretic hormone

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12 December 2020

Cloning and expression of apical membrane water channel of rat kidney collecting tubule.

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12 December 2020

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

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12 December 2020

Three novel mutations in Japanese patients with 21-hydroxylase deficiency.

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12 December 2020

Identification and characterization of aquaporin-2 water channel mutations causing nephrogenic diabetes insipidus with partial vasopressin response

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12 December 2020

Cell biological aspects of the vasopressin type-2 receptor and aquaporin 2 water channel in nephrogenic diabetes insipidus

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12 December 2020

Mucopolysaccharidosis type I: identification of novel mutations that cause Hurler/Scheie syndrome in Chinese families

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12 December 2020

Effects of caloric or protein restriction on insulin-like growth factor-I (IGF-I) and IGF-binding proteins in children and adults.

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12 December 2020

10.1007/S12020-008-9074-X

Identifiers

DOI

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1 December 2017

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