A missense mutation encoding Cys73Phe in neurophysin II is associated with autosomal dominant neurohypophyseal diabetes insipidus (Q44163810)

30 November 2017

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

1 reference

30 November 2017

Jeerunda Santiprabhob

series ordinal

1

1 reference

PubMed ID

12359138

30 November 2017

James Browning

series ordinal

2

1 reference

PubMed ID

12359138

30 November 2017

David Repaske

series ordinal

3

1 reference

30 November 2017

1 September 2002

1 reference

Molecular Genetics and Metabolism

30 November 2017

1 reference

30 November 2017

77

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30 November 2017

1-2

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30 November 2017

112-118

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Mutations in the vasopressin prohormone involved in diabetes insipidus impair endoplasmic reticulum export but not sorting

30 November 2017

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900118-X

7 January 2021

Molecular Analysis of Autosomal Dominant Neurohypophyseal Diabetes Insipidus*

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900118-X

7 January 2021

Chromosomal assignment of human sequences encoding arginine vasopressin-neurophysin II and growth hormone releasing factor

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900118-X

7 January 2021

A missense mutation encoding cys(67) --> gly in neurophysin ii is associated with early onset autosomal dominant neurohypophyseal diabetes insipidus

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900118-X

7 January 2021

Autosomal dominant neurohypophyseal diabetes insipidus in a Swiss family, caused by a novel mutation (C59Delta/A60W) in the neurophysin moiety of prepro-vasopressin-neurophysin II (AVP-NP II).

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900118-X

7 January 2021

Genetic basis of familial neurohypophyseal diabetes insipidus

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900118-X

7 January 2021

A novel arginine vasopressin-neurophysin II mutation causes autosomal dominant neurohypophyseal diabetes insipidus and morphologic pituitary changes.

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900118-X

7 January 2021

Autosomal recessive familial neurohypophyseal diabetes insipidus with continued secretion of mutant weakly active vasopressin.

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900118-X

7 January 2021

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900118-X

7 January 2021

A simple salting out procedure for extracting DNA from human nucleated cells

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900118-X

7 January 2021

Biosynthesis of vasopressin and oxytocin

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900118-X

7 January 2021

Crystal structure of a bovine neurophysin II dipeptide complex at 2.8 A determined from the single-wavelength anomalous scattering signal of an incorporated iodine atom

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900118-X

7 January 2021

Complete assignment of neurophysin disulfides indicates pairing in two separate domains

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900118-X

7 January 2021

Identification of human neurophysins: complete amino acid sequences of MSEL- and VLDV-neurophysins

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900118-X

7 January 2021

Autosomal dominant neurohypophyseal diabetes insipidus associated with a missense mutation encoding Gly23-->Val in neurophysin II.

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900118-X

7 January 2021

Identification of a novel nonsense mutation and a missense substitution in the vasopressin-neurophysin II gene in two Spanish kindreds with familial neurohypophyseal diabetes insipidus

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900118-X

7 January 2021

Identification of mutations of the arginine vasopressin-neurophysin II gene in two kindreds with familial central diabetes insipidus.

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900118-X

7 January 2021

Recurrent mutations in the vasopressin-neurophysin II gene cause autosomal dominant neurohypophyseal diabetes insipidus

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900118-X

7 January 2021

Molecular basis of autosomal dominant neurohypophyseal diabetes insipidus. Cellular toxicity caused by the accumulation of mutant vasopressin precursors within the endoplasmic reticulum

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900118-X

7 January 2021

Possible involvement of inefficient cleavage of preprovasopressin by signal peptidase as a cause for familial central diabetes insipidus

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900118-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900118-X

7 January 2021

Two novel mutations in the coding region for neurophysin-II associated with familial central diabetes insipidus.

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900118-X

7 January 2021

A novel mutation in the coding region for neurophysin-II is associated with autosomal dominant neurohypophyseal diabetes insipidus

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900118-X

7 January 2021

Hyperintensity of posterior pituitary on MR T1WI in a boy with central diabetes insipidus caused by missense mutation of neurophysin II gene

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900118-X

7 January 2021

A novel mutation (R97C) in the neurophysin moiety of prepro-vasopressin-neurophysin II associated with autosomal-dominant neurohypophyseal diabetes insipidus

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900118-X

7 January 2021

A new mutation of the arginine vasopressin-neurophysin II gene in a family with autosomal dominant neurohypophyseal diabetes insipidus

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900118-X

7 January 2021

10.1016/S1096-7192(02)00118-X

Identifiers

DOI

1 reference

30 November 2017

1 reference

PubMed ID

12359138