Severe Wolcott-Rallison syndrome due to a nonsense mutation in the first exon EIF2AK3
Wolcott-Rallison syndrome is a rare autosomal recessive disease characterized by neonatal diabetes mellitus in combination with osteodysplasia and liver failure. This disease is the most common cause of neonatal diabetes mellitus in consanguineous families. Wolcott-Rallison syndrome is associated wi...
Saved in:
| Main Authors: | Diliara N. Gubaeva, Dmitry N. Laptev, Anatoly N. Tiulpakov, Lidia M. Petrova |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Endocrinology Research Centre
2018-03-01
|
| Series: | Сахарный диабет |
| Subjects: | |
| Online Access: | https://www.dia-endojournals.ru/jour/article/view/8770 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
Similar Items
-
EIF2AK2 protein targeted activation of AIM2-mediated PANoptosis promotes sepsis-induced acute kidney injury
by: Siwei Wei, et al.
Published: (2024-12-01) -
Irisin Mitigates Doxorubicin-Induced Cardiotoxicity by Reducing Oxidative Stress and Inflammation via Modulation of the PERK-eIF2α-ATF4 Pathway
by: Zhang Z, et al.
Published: (2025-02-01) -
Involvement of TMAO in exacerbating arsenic-induced neurotoxicity by activating the PERK/eIF2α/ATF4 pathway
by: Hong Zhang, et al.
Published: (2025-09-01) -
Mutation in Prkra results in cerebellar abnormality and reduced eIF2α phosphorylation in a model of DYT-PRKRA
by: Samuel B. Burnett, et al.
Published: (2024-11-01) -
PERK/eIF2α pathway affected the thyroid hormone synthetic in hypertensive disorders of pregnancy rats
by: Congrong Wu, et al.
Published: (2025-08-01)