Varaico: Literature-Extracted Genetic Variants

Gene:AVP
Variant:p.C98*
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AVP

NM_000490.5:p.C98*

Associated Papers

Phagophores originate from endoplasmic reticulum membranes in vasopressin neurons in a mouse model of familial neurohypophysial diabetes insipidus.

Miyata T et al.

Cell and Tissue Research, 2025

Investigation of Fibrillar Aggregates Formed by Pathogenic Pre-pro-vasopressin Mutants that Cause ADNDI.

Vaizoglu RD et al.

The Journal of Clinical Endocrinology and Metabolism, 2025

Mineralocorticoids induce polyuria by reducing apical aquaporin-2 expression of the kidney in partial vasopressin deficiency.

Kurimoto J et al.

Endocrine Journal, 2023

Multi-omics analysis identifies osteosarcoma subtypes with distinct prognosis indicating stratified treatment.

Jiang Y et al.

Nature Communications, 2022

36418292 (PubMed )
Supplement: 41467_2022_34689_MOESM4_ESM.zip › Supplementary_Data › Supplementary_Data_5.xlsx › Sheet1

Familial neurohypophyseal diabetes insipidus: clinical, genetic and functional studies of novel mutations in the arginine vasopressin gene.

Alvelos MI et al.

Pituitary, 2021

Central Diabetes Insipidus Caused by Arginine Vasopressin Gene Mutation: Report of a Novel Mutation and Review of Literature.

Feldkamp LLI et al.

Hormone and Metabolic Research = Hormon- Und Stoffwechselforschung = Hormones Et Metabolisme, 2020

A novel mechanism of autophagy-associated cell death of vasopressin neurons in familial neurohypophysial diabetes insipidus.

Hagiwara D et al.

Cell and Tissue Research, 2019

Chemical chaperone 4-phenylbutylate reduces mutant protein accumulation in the endoplasmic reticulum of arginine vasopressin neurons in a mouse model for familial neurohypophysial diabetes insipidus.

Tochiya M et al.

Neuroscience Letters, 2018

The Novel Ser18del AVP Variant Causes Inherited Neurohypophyseal Diabetes Insipidus by Mechanisms Shared with Other Signal Peptide Variants.

Toustrup LB et al.

Neuroendocrinology, 2018

Central diabetes insipidus.

Arima H et al.

Nagoya Journal of Medical Science, 2016

AVP-NPII gene mutations and clinical characteristics of the patients with autosomal dominant familial central diabetes insipidus.

Turkkahraman D et al.

Pituitary, 2015

Activating transcription factor 6α is required for the vasopressin neuron system to maintain water balance under dehydration in male mice.

Azuma Y et al.

Endocrinology, 2014

Arginine vasopressin neuronal loss results from autophagy-associated cell death in a mouse model for familial neurohypophysial diabetes insipidus.

Hagiwara D et al.

Cell Death & Disease, 2014

Endoplasmic reticulum stress in vasopressin neurons of familial diabetes insipidus model mice: aggregate formation and mRNA poly(A) tail shortening.

Arima H et al.

Experimental Physiology, 2014

Mechanisms underlying progressive polyuria in familial neurohypophysial diabetes insipidus.

Arima H et al.

Journal of Neuroendocrinology, 2010

Activation of vasopressin neurons leads to phenotype progression in a mouse model for familial neurohypophysial diabetes insipidus.

Hiroi M et al.

American Journal of Physiology. Regulatory, Integrative and Comparative Physiology, 2010

Progressive polyuria without vasopressin neuron loss in a mouse model for familial neurohypophysial diabetes insipidus.

Hayashi M et al.

American Journal of Physiology. Regulatory, Integrative and Comparative Physiology, 2009

Akt induces apoptosis in neuroblastoma cells expressing a C98X vasopressin mutant following autophagy suppression.

Castino R et al.

Journal of Neuroendocrinology, 2008

Familial neurohypophyseal diabetes insipidus--an update.

Christensen JH et al.

Seminars in Nephrology, 2006

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."