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Journal Article
Journal of Cellular and Molecular Medicine, ISSN 1582-1838, 08/2019, Volume 23, Issue 8, pp. 4962 - 4969
Cantú syndrome (CS) is caused by dominant gain‐of‐function mutation in ATP‐dependent potassium channels. Cellular ATP concentrations regulate potassium current... 
Cantú syndrome | ABCC9 | HMR1098 | electrophysiology | glibenclamide | pharmacology | TERMINAL TRANSMEMBRANE DOMAIN | MEDICINE, RESEARCH & EXPERIMENTAL | K-ATP CHANNELS | INSULIN-SECRETION | SENSITIVE POTASSIUM CHANNEL | ISCHEMIA | Cantu syndrome | GLYBURIDE | HMR 1883 | CELL BIOLOGY | SULFONYLUREAS | MUTATIONS | INHIBITOR | Index Medicus
Journal Article
Clinical Chemistry, ISSN 0009-9147, 2013, Volume 59, Issue 5, pp. 735 - 736
Journal Article
New England Journal of Medicine, ISSN 0028-4793, 02/2015, Volume 372, Issue 6, pp. 578 - 579
Journal Article
New England journal of medicine, ISSN 0028-4793, 2015, Volume 372, Issue 6, pp. 578 - 579
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 02/2015, Volume 372, Issue 6, pp. 578 - 579
To the Editor: Van Hasselt et al. (Nov. 13 issue) 1 state that fasting, by increasing ketogenesis, is the usual precipitating condition for ketoacidosis in... 
MEDICINE, GENERAL & INTERNAL | Ketosis - genetics | Monocarboxylic Acid Transporters - deficiency | Humans | Ketone Bodies - metabolism | Symporters - genetics | Symporters - deficiency | Monocarboxylic Acid Transporters - genetics | Mutation | Fasting | Ketones | Glucagon | Ketogenesis | Ketoacidosis | Infections | Insulin
Journal Article
Genes and Development, ISSN 0890-9369, 01/2010, Volume 24, Issue 1, pp. 1 - 4
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 03/2016
We identified de novo nonsense variants in KIDINS220/ARMS in three unrelated patients with spastic paraplegia, intellectual disability, nystagmus, and obesity... 
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 03/2016, Volume 25, Issue 11, p. 2158
We identified de novo nonsense variants in KIDINS220/ARMS in three unrelated patients with spastic paraplegia, intellectual disability, nystagmus, and obesity... 
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 2016, Volume 25, Issue 11, p. 2158
We identified de novo nonsense variants in KIDINS220/ARMS in three unrelated patients with spastic paraplegia, intellectual disability, nystagmus, and obesity... 
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 2015, Volume 97, Issue 4, p. 621–626
Tooth agenesis is one of the most common developmental anomalies in man. Oligodontia, a severe form of tooth agenesis, occurs both as an isolated anomaly and... 
Journal Article
Journal Article
The Journal of Biological Chemistry, ISSN 0021-9258, 2/2018, Volume 293, Issue 6, pp. 2041 - 2052
The complex disorder Cantu syndrome (CS) arises from gain-of-function mutations in either KCNJ8 or ABCC9 , the genes encoding the Kir6.1 and SUR2 subunits of... 
cardiovascular disease | potassium channel | electrophysiology | ABC transporter | Membrane Biology | nucleotide
Journal Article
Nature Genetics, ISSN 1061-4036, 05/2009, Volume 41, Issue 5, pp. 521 - 523
Journal Article
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