Impaired trafficking of mutated AVP prohormone in cells expressing rare disease genes causing autosomal dominant familial neurohypophyseal diabetes insipidus.

Impaired trafficking of mutated AVP prohormone in cells expressing rare disease genes causing autosomal dominant familial neurohypophyseal diabetes insipidus.

Item
http://www.wikidata.org/entity/Q31032970
A missense mutation in the arginine-vasopressin neurophysin-II gene causes autosomal dominant neurohypophyseal diabetes insipidus in a Chinese family.A novel AVP gene mutation in a Turkish family with neurohypophyseal diabetes insipidus.A novel variation in the AVP gene resulting in familial neurohypophyseal diabetes insipidus in a large Italian kindred.Current perspective on the pathogenesis of central diabetes insipidus.Diverse vasopressin V2 receptor functionality underlying partial congenital nephrogenic diabetes insipidus.Misfolding of Mutated Vasopressin Causes ER-Retention and Activation of ER-Stress Markers in Neuro-2a CellsProgressive polyuria without vasopressin neuron loss in a mouse model for familial neurohypophysial diabetes insipidus.A novel heterozygous missense mutation in the vasopressin moiety is identified in a Japanese person with neurohypophyseal diabetes insipidus.Clinical and molecular analysis of a Chinese family with autosomal dominant neurohypophyseal diabetes insipidus associated with a novel missense mutation in the vasopressin-neurophysin II gene.
P2860

Impaired trafficking of mutated AVP prohormone in cells expressing rare disease genes causing autosomal dominant familial neurohypophyseal diabetes insipidus.

Item
http://www.wikidata.org/entity/Q31032970
description
2004 nî lūn-bûn
@nan
2004 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2004 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2004年の論文
@ja
2004年論文
@yue
2004年論文
@zh-hant
2004年論文
@zh-hk
2004年論文
@zh-mo
2004年論文
@zh-tw
2004年论文
@wuu
name
Impaired trafficking of mutate ...... ypophyseal diabetes insipidus.
@ast
Impaired trafficking of mutate ...... ypophyseal diabetes insipidus.
@en
type
label
Impaired trafficking of mutate ...... ypophyseal diabetes insipidus.
@ast
Impaired trafficking of mutate ...... ypophyseal diabetes insipidus.
@en
prefLabel
Impaired trafficking of mutate ...... ypophyseal diabetes insipidus.
@ast
Impaired trafficking of mutate ...... ypophyseal diabetes insipidus.
@en
P1433
P1476
P2093
P2860
P304
P31
P356
P433
P478
P577
P698
P921
P356
P1433
P1476
Impaired trafficking of mutate ...... ypophyseal diabetes insipidus.
@en
P2093
P2860
P304
P31
P356
10.1111/J.1365-2265.2004.01953.X
P433
P478
P577
P698
P921