Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2007 3
2008 1
2009 1
2010 1
2011 1
2012 1
2016 2
2017 1
2018 1
2021 1
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

9 results

Results by year

Filters applied: . Clear all
Page 1
Human K(ATP) channelopathies: diseases of metabolic homeostasis.
Olson TM, Terzic A. Olson TM, et al. Pflugers Arch. 2010 Jul;460(2):295-306. doi: 10.1007/s00424-009-0771-y. Epub 2009 Dec 24. Pflugers Arch. 2010. PMID: 20033705 Free PMC article. Review.
The overall mutation frequency within KATP channel genes and the spectrum of genotype-phenotype relationships remain to be established, while predicting consequences of a deficit in channel function is becoming increasingly feasible through systems biology approaches. ...
The overall mutation frequency within KATP channel genes and the spectrum of genotype-phenotype relationships remain to be established, whil …
Permanent Neonatal Diabetes (DEND Syndrome).
Khan SA, Parkash A, Ibrahim M. Khan SA, et al. J Coll Physicians Surg Pak. 2016 Nov;26(11):114-115. J Coll Physicians Surg Pak. 2016. PMID: 28666500
Neonatal Diabetes: Two Cases with Isolated Pancreas Agenesis due to Homozygous PTF1A Enhancer Mutations and One with Developmental Delay, Epilepsy, and Neonatal Diabetes Syndrome due to KCNJ11 Mutation.
Evliyaoğlu O, Ercan O, Ataoğlu E, Zübarioğlu Ü, Özcabı B, Dağdeviren A, Erdoğan H, De Franco E, Ellard S. Evliyaoğlu O, et al. J Clin Res Pediatr Endocrinol. 2018 Jun 1;10(2):168-174. doi: 10.4274/jcrpe.5162. Epub 2017 Sep 25. J Clin Res Pediatr Endocrinol. 2018. PMID: 28943513 Free PMC article.
Although neonatal diabetes mellitus can be diagnosed clinically, genetic analysis is important since it is a guide for the treatment and for prognosis....
Although neonatal diabetes mellitus can be diagnosed clinically, genetic analysis is important since it is a guide for the treatment and for …
An ATP-binding mutation (G334D) in KCNJ11 is associated with a sulfonylurea-insensitive form of developmental delay, epilepsy, and neonatal diabetes.
Masia R, Koster JC, Tumini S, Chiarelli F, Colombo C, Nichols CG, Barbetti F. Masia R, et al. Diabetes. 2007 Feb;56(2):328-36. doi: 10.2337/db06-1275. Diabetes. 2007. PMID: 17259376
All of the K(ATP) channel mutations examined result in decreased ATP inhibition, which in turn is predicted to suppress insulin secretion. Here we describe a patient with severe PNDM, which includes developmental delay and epilepsy, in addition to neonatal diabetes (develo …
All of the K(ATP) channel mutations examined result in decreased ATP inhibition, which in turn is predicted to suppress insulin secre …
The G53D mutation in Kir6.2 (KCNJ11) is associated with neonatal diabetes and motor dysfunction in adulthood that is improved with sulfonylurea therapy.
Koster JC, Cadario F, Peruzzi C, Colombo C, Nichols CG, Barbetti F. Koster JC, et al. J Clin Endocrinol Metab. 2008 Mar;93(3):1054-61. doi: 10.1210/jc.2007-1826. Epub 2007 Dec 11. J Clin Endocrinol Metab. 2008. PMID: 18073297 Free PMC article.
All Kir6.2 mutations examined decrease the ATP inhibition of KATP, which is predicted to suppress electrical activity in neurons (peripheral and central), muscle, and pancreas. ...Reconstituted G53D channels exhibit reduced ATP sensitivity, which is predicted to sup …
All Kir6.2 mutations examined decrease the ATP inhibition of KATP, which is predicted to suppress electrical activity in neurons (per …
Further report of MEDS syndrome: Clinical and molecular delineation of a new Tunisian case.
Rjiba K, Soyah N, Kammoun M, Hadj Hmida I, Saad A, Mcelreavey K, Mougou-Zerelli S. Rjiba K, et al. Eur J Med Genet. 2021 Sep;64(9):104285. doi: 10.1016/j.ejmg.2021.104285. Epub 2021 Jul 3. Eur J Med Genet. 2021. PMID: 34229114
Exome sequencing identified a homozygous missense variant (c.62 T > G; p. Val21Gly) in the IER3IP1 gene, that is predicted to alter the protein structure within the hydrophobic/transmembrane. ...
Exome sequencing identified a homozygous missense variant (c.62 T > G; p. Val21Gly) in the IER3IP1 gene, that is predicted to alte …