Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ11
Variant:p.Q52L
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KCNJ11

NM_000525.4:p.Q52L

Associated Papers

Structure of an open KATP channel reveals tandem PIP2 binding sites mediating the Kir6.2 and SUR1 regulatory interface.

Driggers CM et al.

Nature Communications, 2024

Structure of an open K ATP channel reveals tandem PIP 2 binding sites mediating the Kir6.2 and SUR1 regulatory interface.

Driggers CM et al.

Biorxiv : the Preprint Server for Biology, 2024

Continuous spectrum of glucose dysmetabolism due to the KCNJ11 gene mutation-Case reports and review of the literature.

He B et al.

Journal of Diabetes, 2021

Neonatal diabetes due to potassium channel mutation: Response to sulfonylurea according to the genotype.

Garcin L et al.

Pediatric Diabetes, 2020

New insights into KATP channel gene mutations and neonatal diabetes mellitus.

Pipatpolkai T et al.

Nature Reviews. Endocrinology, 2020

Hypoglycemia in sulfonylurea-treated KCNJ11-neonatal diabetes: Mild-moderate symptomatic episodes occur infrequently but none involving unconsciousness or seizures.

Lanning MS et al.

Pediatric Diabetes, 2018

First case of neonatal diabetes with KCNJ11 Q52R mutation successfully switched from insulin to sulphonylurea treatment.

Ioacara S et al.

Journal of Diabetes Investigation, 2017

Successful transfer to sulfonylureas in KCNJ11 neonatal diabetes is determined by the mutation and duration of diabetes.

Babiker T et al.

Diabetologia, 2016

27033559 (PubMed )
Supplement: 125_2016_3921_MOESM3_ESM.pdf

Permanent neonatal diabetes mellitus caused by a novel mutation in the KCNJ11 gene.

Doneray H et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2014

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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."