Diagnostic marker signature for esophageal cancer from transcriptome analysis.
Köln, Germany. In Tumour Biol, Jan 2016
The markers significantly overexpressed already in earlier tumor stages (pT1-2) of both histological subtypes (n = 19) have been clustered in a "diagnostic signature": PLA2G7, PRAME, MMP1, MMP3, MMP12, LIlRB2, TREM2, CHST2, IGFBP2, IGFBP7, KCNJ8, EMILIN2, CTHRC1, EMR2, WDR72, LPCAT1, COL4A2, CCL4, and SNX10.
Cantú Syndrome and Related Disorders
Seattle, United States. In Unknown Journal, 2014
DIAGNOSIS/TESTING: The diagnosis is established based on clinical findings and confirmed by detection of a heterozygous pathogenic variant in ABCC9 or KCNJ8.
Role of ATP-sensitive K+ channels in cardiac arrhythmias.
Chiba, Japan. In J Cardiovasc Pharmacol Ther, 2014
Recently, it has been proposed that the gain-of-function mutation of cardiac Kir6.1 channel can be a pathogenic substrate for J wave syndromes, a cause of idiopathic ventricular fibrillation as early repolarization syndrome or Brugada syndrome, whereas loss of function of the channel mutations can underlie sudden infant death syndrome.
Muscle KATP channels: recent insights to energy sensing and myoprotection.
Saint Louis, United States. In Physiol Rev, 2010
Generated as complexes of Kir6.1 or Kir6.2 pore-forming subunits with regulatory sulfonylurea receptor subunits, SUR1 or SUR2, the differential assembly of K(ATP) channels in different tissues gives rise to tissue-specific physiological and pharmacological regulation, and hence to the tissue-specific pharmacological control of contractility.