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American Journal of Medical Genetics Part C: Seminars in Medical Genetics, ISSN 1552-4868, 12/2019, Volume 181, Issue 4, pp. 658 - 681
Cantú syndrome (CS), first described in 1982, is caused by pathogenic variants in ABCC9 and KCNJ8, which encode the regulatory and pore forming subunits of... 
polyhydramnios | hypertrichosis | ABCC9 | Cantú | cardiomegaly | PDA
Journal Article
Molecular Psychiatry, ISSN 1359-4184, 2013, Volume 18, Issue 1, pp. 122 - 132
Humans sleep approximately a third of their lifetime. The observation that individuals with either long or short sleep duration show associations with... 
Munich ChronoType Questionnaire | chronotype | sleep duration | SUR | ABCC9 | seasonality | ACTIVATION | IMPUTATION | NETWORK | PSYCHIATRY | BIOCHEMISTRY & MOLECULAR BIOLOGY | ENVIRONMENT | SUBUNITS | NEUROSCIENCES | ENTRAINMENT | MEMORY | HUMAN CIRCADIAN CLOCK | DISEASE | NEURONS
Journal Article
ENDOCRINE, ISSN 1355-008X, 03/2018, Volume 59, Issue 3, pp. 677 - 684
Pseudoacromegaly describes conditions with an acromegaly related physical appearance without abnormalities in the growth hormone (GH) axis. Acromegaloid... 
FACIAL FEATURES | AUTOSOMAL-DOMINANT SYNDROME | ENDOCRINOLOGY & METABOLISM | Cantu syndrome | ABCC9 | pseudoacromegaly | familiar pituitary adenoma | MUTATIONS
Journal Article
Molecular Psychiatry, ISSN 1359-4184, 01/2013, Volume 18, Issue 1, pp. 122 - 132
Humans sleep approximately a third of their lifetime. The observation that individuals with either long or short sleep duration show associations with... 
Munich ChronoType Questionnaire | chronotype | SUR | sleep duration | ABCC9 | seasonality
Journal Article
CIRCULATION RESEARCH, ISSN 0009-7330, 12/2008, Volume 103, Issue 12, pp. 1458 - U228
The isoform-specific structure of the ATP-sensitive potassium (K-ATP) channel endows it with differential fundamental properties, including physiological... 
SENSITIVE POTASSIUM CHANNELS | ISCHEMIA/REPERFUSION INJURY | CARDIAC & CARDIOVASCULAR SYSTEMS | ABCC8 | MOUSE HEART | INSULIN-SECRETION | ABCC9 | SUBUNITS | sarcolemmal | SULFONYLUREA RECEPTOR | diazoxide | GENE-EXPRESSION | PERIPHERAL VASCULAR DISEASE | MICE | mitochondrial | HEMATOLOGY
Journal Article
PM&R, ISSN 1934-1482, 03/2018, Volume 10, Issue 3, pp. 235 - 243
Pharmacogenomic variability can contribute to differences in pharmacokinetics and clinical responses. Pediatric patients with cerebral palsy with genetic... 
SPASTICITY | HEARING-LOSS | SPORT SCIENCES | TPMT | ANTHRACYCLINE-INDUCED CARDIOTOXICITY | REHABILITATION | GENETIC-VARIANTS | ABCC9 | MUTATIONS | PROTEINS | ASSOCIATION
Journal Article
DMM Disease Models and Mechanisms, ISSN 1754-8403, 10/2018, Volume 11, Issue 10
The zebrafish (Danio rerio) has become a popular vertebrate model organism to study organ formation and function due to its optical clarity and rapid embryonic... 
Immunology and Microbiology (miscellaneous) | CRISPR/Cas9 | KCNJ8 | Point mutation | Medicine (miscellaneous) | Neuroscience (miscellaneous) | Cantú syndrome | Zebrafish | ABCC9 | Genome editing | Biochemistry, Genetics and Molecular Biology(all)
Journal Article
Molecular Syndromology, ISSN 1661-8769, 06/2017, Volume 8, Issue 4, pp. 206 - 210
Cantu syndrome is a very rare autosomal dominant disorder characterized by generalized congenital hypertrichosis, neonatal macrosomia, coarse face,... 
Hypertrichosis | ABCC9 | Ovaries | FACIAL FEATURES | GENETICS & HEREDITY | CHANNELS | MUTATIONS | Short Report
Journal Article
Pflügers Archiv - European Journal of Physiology, ISSN 0031-6768, 7/2010, Volume 460, Issue 2, pp. 295 - 306
Assembly of an inward rectifier K+ channel pore (Kir6.1/Kir6.2) and an adenosine triphosphate (ATP)-binding regulatory subunit (SUR1/SUR2A/SUR2B) forms... 
Heart failure | Human Physiology | KCNJ11 | Disease | ABCC8 | E23K | Channelopathy | Cardiomyopathy | SUR1 | SUR2A | Atrial fibrillation | ABCC9 | KNCJ8 | Insulin | Kir6.2 | Kir6.1 | Biomedicine | ATP-sensitive K + channels | Genetics | SUR2B | Mutation | Diabetes | Polymorphism | channels | ATP-sensitive K | Ion Channels, Receptors and Transporters | ATP-sensitive K+ channels
Journal Article
Frontiers in Pharmacology, ISSN 1663-9812, 2015, Volume 6, p. 168
Histone deacetylase inhibitors (HDIs) are under investigation for the treatment of a number of human health problems. HDIs have proven therapeutic value in... 
Epigenetics | Abcc9 | SREBP | Romidepsin | Abcc8 | Cholesterol | T cells | Genetic transcription | ABCC9 | ABCC8 | epigenetics
Journal Article
PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY, ISSN 0031-6768, 07/2010, Volume 460, Issue 2, pp. 295 - 306
Journal Article
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, ISSN 1552-4841, 07/2013, Volume 162, Issue 5, pp. 431 - 438
Journal Article