Associated Papers
Structures of TASK-1 and TASK-3 K2P channels provide insight into their gating and dysfunction in disease.
Hall PR et al.
Structure (london, England : 1993), 2025
Assessing Protein Surface-Based Scoring for Interpreting Genomic Variants.
Dsouza NR et al.
International Journal of Molecular Sciences, 2024
A leak K+ channel TWK-40 sustains the rhythmic motor program.
Yue Z et al.
Pnas Nexus, 2024
Clinical-Genomic Analysis of 1261 Patients with Ehlers-Danlos Syndrome Outlines an Articulo-Autonomic Gene Network (Entome).
Wilson GN et al.
Current Issues in Molecular Biology, 2024
National Rapid Genome Sequencing in Neonatal Intensive Care.
Marom D et al.
Jama Network Open, 2024
Exome sequencing in the pediatric neuromuscular clinic leads to more frequent diagnosis of both neuromuscular and neurodevelopmental conditions.
Meyer AP et al.
Muscle & Nerve, 2023
A rare early-onset neonatal case of Birk-Barel syndrome presenting severe obstructive sleep apnea: a case report.
Zhang Q et al.
Frontiers in Medicine, 2023
Application of exome sequencing for prenatal diagnosis of fetal structural anomalies: clinical experience and lessons learned from a cohort of 1618 fetuses.
Fu F et al.
Genome Medicine, 2022
Trio-based exome sequencing reveals a high rate of the de novo variants in intellectual disability.
Brea-Fernández AJ et al.
European Journal of Human Genetics : Ejhg, 2022
Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome.
Cousin MA et al.
Genome Medicine, 2022
An Extremely Rare Case of Birk-Barel Syndrome With Severe Central Apneas.
Ramirez-Arenalde MA et al.
Cureus, 2021
Role of chimeric transcript formation in the pathogenesis of birth defects.
Yamada M et al.
Congenital Anomalies, 2021
46,XY,r(8)/45,XY,-8 Mosaicism as a Possible Mechanism of the Imprinted Birk-Barel Syndrome: A Case Study.
Kashevarova AA et al.
Genes, 2020
Clinical exome sequencing as the first-tier test for diagnosing developmental disorders covering both CNV and SNV: a Chinese cohort.
Dong X et al.
Journal of Medical Genetics, 2020
TASK channels: channelopathies, trafficking, and receptor-mediated inhibition.
Inoue M et al.
Pflugers Archiv : European Journal of Physiology, 2020
A lower X-gate in TASK channels traps inhibitors within the vestibule.
Rödström KEJ et al.
Nature, 2020
Syndromic Disorders Caused by Disturbed Human Imprinting
Carli D et al.
Journal of Clinical Research in Pediatric Endocrinology, 2020
Novel variant in the KCNK9 gene in a girl with Birk Barel syndrome.
Šedivá M et al.
European Journal of Medical Genetics, 2020
PEDIA: prioritization of exome data by image analysis.
Hsieh TC et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Pharmacologically reversible, loss of function mutations in the TM2 and TM4 inner pore helices of TREK-1 K2P channels.
Al-Moubarak E et al.
Scientific Reports, 2019
A Small-Molecule Compound Selectively Activates K2P Channel TASK-3 by Acting at Two Distant Clusters of Residues.
Tian F et al.
Molecular Pharmacology, 2019
Terbinafine is a novel and selective activator of the two-pore domain potassium channel TASK3.
Wright PD et al.
Biochemical and Biophysical Research Communications, 2017
TALK-1 channels control β cell endoplasmic reticulum Ca2+ homeostasis.
Vierra NC et al.
Science Signaling, 2017
Molecular Screening of MKRN3, DLK1, and KCNK9 Genes in Girls with Idiopathic Central Precocious Puberty.
Grandone A et al.
Hormone Research in Paediatrics, 2017
KCNK9 imprinting syndrome-further delineation of a possible treatable disorder.
Graham JM et al.
American Journal of Medical Genetics. Part A, 2016
Breathing Stimulant Compounds Inhibit TASK-3 Potassium Channel Function Likely by Binding at a Common Site in the Channel Pore.
Chokshi RH et al.
Molecular Pharmacology, 2015
The role of acid-sensitive two-pore domain potassium channels in cardiac electrophysiology: focus on arrhythmias.
Decher N et al.
Pflugers Archiv : European Journal of Physiology, 2015
Screening individuals with intellectual disability, autism and Tourette's syndrome for KCNK9 mutations and aberrant DNA methylation within the 8q24 imprinted cluster.
Sánchez Delgado M et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2014
Gain-of-function mutation in TASK-4 channels and severe cardiac conduction disorder.
Friedrich C et al.
Embo Molecular Medicine, 2014
Dysfunction of KCNK potassium channels impairs neuronal migration in the developing mouse cerebral cortex.
Bando Y et al.
Cerebral Cortex (new York, N.y. : 1991), 2014
Recovery of current through mutated TASK3 potassium channels underlying Birk Barel syndrome.
Veale EL et al.
Molecular Pharmacology, 2014
Major channels involved in neuropsychiatric disorders and therapeutic perspectives.
Imbrici P et al.
Frontiers in Genetics, 2013
Maternally inherited Birk Barel mental retardation dysmorphism syndrome caused by a mutation in the genomically imprinted potassium channel KCNK9.
Barel O et al.
American Journal of Human Genetics, 2008
Birk-Barel Intellectual Disability Dimorphism and KCNK9 Imprinting Syndrome: Craniofacial Surgery Considerations for an Exceedingly Rare Syndrome.
Villavisanis DF et al.
The Journal of Craniofacial Surgery, 0