[HTML][HTML] Central diabetes insipidus

H Arima, Y Azuma, Y Morishita… - Nagoya journal of …, 2016 - ncbi.nlm.nih.gov
Central diabetes insipidus (CDI), characterized by polyuria and polydipsia, is caused by
deficiency of arginine vasopressin (AVP), an antidiuretic hormone which acts on V2 …

Genetics of diabetes insipidus

MH Schernthaner-Reiter, CA Stratakis… - Endocrinology and …, 2017 - endo.theclinics.com
Diabetes insipidus is a disease characterized by polyuria and polydipsia. It may be caused
by inadequate posterior pituitary arginine vasopressin (AVP) production (neurohypophyseal …

Differential diagnosis of familial diabetes insipidus

GL Robertson - Handbook of Clinical Neurology, 2021 - Elsevier
Diabetes insipidus (DI) is a syndrome characterized by the persistent excretion of
abnormally large volumes of dilute urine. It can be caused by any of four fundamentally …

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

RD Vaizoglu, B Erdem, M Gul, C Acar… - The Journal of …, 2024 - academic.oup.com
Context Aggregations of unfolded or misfolded proteins, both inside and outside cells, are
implicated in numerous diseases, collectively known as amyloidosis. Particularly, autosomal …

[HTML][HTML] Autosomal dominant familial neurohypophyseal diabetes insipidus caused by a novel nonsense mutation in AVP‑NPII gene

H Yang, K Yan, L Wang, F Gong… - Experimental and …, 2019 - spandidos-publications.com
Familial neurohypophyseal diabetes insipidus (FNDI) is a rare single‑gene disorder caused
by mutations of the arginine vasopressin‑neurophysin II (AVP‑NPII) gene. These changes …

Functional analyses of three different mutations in the AVP-NPII gene causing familial neurohypophyseal diabetes insipidus

MÖ Türkmen, T Karaduman, BE Tuncdemir, MA Ünal… - Endocrine, 2021 - Springer
Purpose Familial neurohypophyseal diabetes insipidus (FNDI), a rare disorder, which is
clinically characterized by polyuria and polydipsia, results from mutations in the arginine …

Two novel mutations in seven Czech and Slovak kindreds with familial neurohypophyseal diabetes insipidus—benefit of genetic testing

G Hrčková, V Jankó, J Kytnarová, M Čižmárová… - European journal of …, 2016 - Springer
Familial neurohypophyseal diabetes insipidus (FNDI) is a rare hereditary disorder with
unknown prevalence characterized by arginine-vasopressin hormone (AVP) deficiency …

[引用][C] Diabetes İnsipidus Tanılı Hastaların AVP-NPII Geninde Tanımlanan Mutasyonların Fonksiyonel Analizleri

M Özcan Türkmen - 2020 - Fen Bilimleri Enstitüsü