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

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

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

http://www.wikidata.org/entity/Q24672642

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An aquaporin-2 water channel mutant which causes autosomal dominant nephrogenic diabetes insipidus is retained in the Golgi complex Binding-, intracellular transport-, and biosynthesis-defective mutants of vasopressin type 2 receptor in patients with X-linked nephrogenic diabetes insipidus Molecular evolution of the neuropeptide S receptor Identification of two new mutations in the GPR98 and the PDE6B genes segregating in a Tunisian family.Deletion of the V2 vasopressin receptor gene in two Chinese patients with nephrogenic diabetes insipidus Immunological profile in a family with nephrogenic diabetes insipidus with a novel 11 kb deletion in AVPR2 and ARHGAP4 genes Targeted inactivation of EGF receptor inhibits renal collecting duct development and function.Functional characterization of vasopressin type 2 receptor substitutions (R137H/C/L) leading to nephrogenic diabetes insipidus and nephrogenic syndrome of inappropriate antidiuresis: implications for treatments.X-Linked Recessive form of Nephrogenic Diabetes Insipidus in a 7-Year-Old Boy.A Rare Case of Congenital Diabetes Insipidus.Functional rescue of mutant V2 vasopressin receptors causing nephrogenic diabetes insipidus by a co-expressed receptor polypeptide.Pediatric disorders of water balance.Identification, characterization and rescue of a novel vasopressin-2 receptor mutation causing nephrogenic diabetes insipidus.A novel mutation in AVPR2 causing congenital nephrogenic diabetes insipidus with complete resistance to antidiuretic hormone.A de novo novel missense mutation in AVPR2 with severe nephrogenic diabetes insipidus.V2 vasopressin receptor (V2R) mutations in partial nephrogenic diabetes insipidus highlight protean agonism of V2R antagonists.Congenital nephrogenic diabetes insipidus presented with bilateral hydronephrosis: genetic analysis of V2R gene mutations Characterization of three vasopressin receptor 2 variants: an apparent polymorphism (V266A) and two loss-of-function mutations (R181C and M311V)Molecular recognition of peptide and non-peptide ligands by the extracellular domains of neurohypophysial hormone receptors.Pediatric disorders of water balance.

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

http://www.wikidata.org/entity/Q24672642

description

1994 nî lūn-bûn

@nan

1994 թուականի Օգոստոսին հրատարակուած գիտական յօդուած

@hyw

1994 թվականի օգոստոսին հրատարակված գիտական հոդված

@hy

1994年の論文

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1994年論文

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1994年論文

@zh-hant

1994年論文

@zh-hk

1994年論文

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1994年論文

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1994年论文

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name

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

@ast

Nature and recurrence of AVPR2 mutations in 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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type

label

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

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prefLabel

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

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American Journal of Human Genetics

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

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P2093

D G Bichet

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H Nivet

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M Birnbaumer

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M F Arthus

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M Lonergan

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P Goodyer

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S Benoit

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S Simonetti

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W Rosenthal

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P2860

Mutations in the V2 vasopressin receptor gene are associated with X-linked nephrogenic diabetes insipidus

X-linked nephrogenic diabetes insipidus mutations in North America and the Hopewell hypothesis

Structure and chromosomal localization of the human antidiuretic hormone receptor gene

Molecular identification of the gene responsible for congenital nephrogenic diabetes insipidus

Mutations in the vasopressin type 2 receptor gene (AVPR2) associated with nephrogenic diabetes insipidus

Molecular cloning of the receptor for human antidiuretic hormone

Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease

Germinal mosaicism and risk calculation in X-linked diseases.

X-linked nephrogenic diabetes insipidus: from the ship Hopewell to RFLP studies

DNA structure, mutations, and human genetic disease.

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