Binding-, intracellular transport-, and biosynthesis-defective mutants of vasopressin type 2 receptor in patients with X-linked nephrogenic diabetes insipidus (Q24678213)

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

Statements

scholarly article

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

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type 2 diabetes

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nephrogenic diabetes insipidus

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based on heuristic

inferred from title

author name string

H Tsukaguchi

1

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H Matsubara

2

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S Taketani

3

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Y Mori

4

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T Seido

5

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M Inada

6

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language of work or name

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publication date

October 1995

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Journal of Clinical Investigation

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96

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4

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2043-50

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=185843

7 April 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=185843

7 April 2017

Structure and chromosomal localization of the human antidiuretic hormone receptor gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=185843

7 April 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=185843

7 April 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=185843

7 April 2017

An extracellular congenital nephrogenic diabetes insipidus mutation of the vasopressin receptor reduces cell surface expression, affinity for ligand, and coupling to the Gs/adenylyl cyclase system

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=185843

7 April 2017

Mutations in the vasopressin V2-receptor gene in three families of Italian descent with nephrogenic diabetes insipidus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=185843

7 April 2017

Changes of atrial natriuretic peptide and its messenger RNA with development and regression of cardiac hypertrophy in renovascular hypertensive rats

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=185843

7 April 2017

Molecular cloning of the receptor for human antidiuretic hormone

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=185843

7 April 2017

Molecular identification of the gene responsible for congenital nephrogenic diabetes insipidus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=185843

7 April 2017

Colocalization of the gene for nephrogenic diabetes insipidus (DIR) and the vasopressin type 2 receptor gene (AVPR2) in the Xq28 region

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=185843

7 April 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=185843

7 April 2017

Heterogeneous AVPR2 gene mutations in congenital nephrogenic diabetes insipidus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=185843

7 April 2017

The structure of an antigenic determinant in a protein

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=185843

7 April 2017

Microsomal aldehyde dehydrogenase is localized to the endoplasmic reticulum via its carboxyl-terminal 35 amino acids

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=185843

28 September 2017

Immunocytochemical localization of mutant low density lipoprotein receptors that fail to reach the Golgi complex

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=185843

28 September 2017

Role of the intradiscal domain in rhodopsin assembly and function

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=185843

28 September 2017

Effects of amino acid replacements within the tetrabasic cleavage site on the processing of the human insulin receptor precursor expressed in Chinese hamster ovary cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=185843

28 September 2017

Functional heterogeneity of mutant rhodopsins responsible for autosomal dominant retinitis pigmentosa

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=185843

28 September 2017

Rhodopsin: structure, function, and genetics

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=185843

28 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=185843

28 September 2017

Derivatives of somatic cell hybrids which carry the human gene locus for nephrogenic diabetes insipidus (NDI) express functional vasopressin renal V2-type receptors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=185843

28 September 2017

Two vasopressin type 2 receptor gene mutations R143P and delta V278 in patients with nephrogenic diabetes insipidus impair ligand binding of the receptor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=185843

28 September 2017

Subtype-specific differences in the intracellular sorting of G protein-coupled receptors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=185843

30 May 2018

Role of extracellular disulfide-bonded cysteines in the ligand binding function of the beta 2-adrenergic receptor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=185843

30 May 2018

Selection and coamplification of heterologous genes in mammalian cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=185843

30 May 2018

The effect of eight V2 vasopressin receptor mutations on stimulation of adenylyl cyclase and binding to vasopressin.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=185843

28 November 2018

Hemodynamic and coagulation responses to 1-desamino[8-D-arginine] vasopressin in patients with congenital nephrogenic diabetes insipidus

1 reference

https://pubmed.ncbi.nlm.nih.gov/7560098

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Epinephrine and dDAVP administration in patients with congenital nephrogenic diabetes insipidus. Evidence for a pre-cyclic AMP V2 receptor defective mechanism

1 reference

https://pubmed.ncbi.nlm.nih.gov/7560098

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Expression studies of two vasopressin V2 receptor gene mutations, R202C and 804insG, in nephrogenic diabetes insipidus

1 reference

https://pubmed.ncbi.nlm.nih.gov/7560098

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Brief report: a molecular defect in the vasopressin V2-receptor gene causing nephrogenic diabetes insipidus

1 reference

https://pubmed.ncbi.nlm.nih.gov/7560098

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Brief report: a mutation in the vasopressin V2-receptor gene in a kindred with X-linked nephrogenic diabetes insipidus

1 reference

https://pubmed.ncbi.nlm.nih.gov/7560098

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Nephrogenic diabetes insipidus. A V2 vasopressin receptor unable to stimulate adenylyl cyclase

1 reference

https://pubmed.ncbi.nlm.nih.gov/7560098

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification and purification of the vasopressin receptor from rat liver membranes

1 reference

https://pubmed.ncbi.nlm.nih.gov/7560098

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Two novel mutations in the vasopressin V2 receptor gene in unrelated Japanese kindreds with nephrogenic diabetes insipidus

1 reference

https://pubmed.ncbi.nlm.nih.gov/7560098

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Inheritance of mutations in the V2 receptor gene in thirteen families with nephrogenic diabetes insipidus

1 reference

https://pubmed.ncbi.nlm.nih.gov/7560098

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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10.1172/JCI118252

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