Results 11 to 20 of about 1,940 (148)

Cantú Syndrome Resulting from Activating Mutation in theKCNJ8Gene [PDF]

Human Mutation, 2014
ATP-sensitive potassium (KATP ) channels, composed of inward-rectifying potassium channel subunits (Kir6.1 and Kir6.2, encoded by KCNJ8 and KCNJ11, respectively) and regulatory sulfonylurea receptor (SUR1 and SUR2, encoded by ABCC8 and ABCC9, respectively), couple metabolism to excitability in multiple tissues.
Cooper,Paige E., Reutter,Heiko, Woelfle,Joachim, Engels,Hartmut, Grange,Dorothy K., van Haaften, Gijs, van Bon,Bregje W., Hoischen,Alexander, Nichols,Colin G., Genetica Groep Van Haaften, Child Health   +10 more
openaire   +5 more sources

Loss-of-Function Mutations in the KCNJ8 -Encoded Kir6.1 K _ATP Channel and Sudden Infant Death Syndrome [PDF]

Circulation: Cardiovascular Genetics, 2011
Background— Approximately 10% of sudden infant death syndrome (SIDS) may stem from cardiac channelopathies. The KCNJ8 -encoded Kir6.1 (K ATP ) channel critically regulates vascular tone and cardiac adaptive response to systemic metabolic stressors, including
Tester, David J., Tan, Bi-Hua, Medeiros Domingo, Argelia, Song, Chunhua, Makielski, Jonathan C., Ackerman, Michael J.   +5 more
openaire   +4 more sources

Differential gene expression of cardiac ion channels in human dilated cardiomyopathy. [PDF]

PLoS ONE, 2013
BACKGROUND: Dilated cardiomyopathy (DCM) is characterized by idiopathic dilation and systolic contractile dysfunction of the cardiac chambers. The present work aimed to study the alterations in gene expression of ion channels involved in cardiomyocyte ...
Maria Micaela Molina-Navarro, Esther Roselló-Lletí, Ana Ortega, Estefanía Tarazón, Manuel Otero, Luis Martínez-Dolz, Francisca Lago, José Ramón González-Juanatey, Francisco España, Pablo García-Pavía, José Anastasio Montero, Manuel Portolés, Miguel Rivera   +12 more
doaj   +2 more sources

Kir6.1- and SUR2-dependent KATP overactivity disrupts intestinal motility in murine models of Cantú syndrome [PDF]

JCI Insight, 2020
Cantú syndrome (CS), caused by gain-of-function (GOF) mutations in pore-forming (Kir6.1, KCNJ8) and accessory (SUR2, ABCC9) ATP-sensitive potassium (KATP) channel subunit genes, is frequently accompanied by gastrointestinal (GI) dysmotility, and we ...
Nathaniel W. York, Helen Parker, Zili Xie, David Tyus, Maham Akbar Waheed, Zihan Yan, Dorothy K. Grange, Maria Sara Remedi, Sarah K. England, Hongzhen Hu, Colin G. Nichols   +10 more
doaj   +2 more sources

Síndromes de la onda J J wave syndromes

Revista Cubana de Investigaciones Biomédicas, 2012
Se realizó una revisión sobre los aspectos más novedosos y polémicos de los síndromes de la onda J, que incluyó el síndrome de repolarización precoz, la fibrilación ventricular idiopática y la muerte súbita nocturna inexplicable.
Annerys Méndez Rosabal
doaj   +1 more source

Identifying Co-Expressed lncRNAs Correlated With Traits of Interest in an Animal Model for Metabolic Diseases in Humans. [PDF]

Anim Genet
ABSTRACT Nutrigenomics investigates how nutrients modulate gene expression. Among them, fatty acids (FA) play important roles in regulating gene transcription, while long non‐coding RNAs (lncRNAs) may be associated with gene regulation and metabolic diseases.
Nascimento LE, da Silva BPM, de Oliveira CS, Durval MC, Freitas FAO, Ciconello FN, Gervásio IC, Fanalli SL, de Souza Fonseca PA, Gutiérrez-Gil B, de Almeida VV, Cesar ASM.   +11 more
europepmc   +2 more sources

Cantù Syndrome: A Case Report With Orthodontic and Sleep Disorder Findings. [PDF]

Clin Case Rep
ABSTRACT This case emphasizes the importance of comprehensive orthodontic and sleep evaluations in Cantù syndrome. Despite severe dento‐skeletal malocclusions, the patient exhibited low risk of obstructive sleep apnea (PSQ score < 0.33), emphasizing that craniofacial anomalies do not uniformly predict respiratory compromise.
Guglielmi F, Alessandri Bonetti A, Nuzzo B, Gallenzi P.   +3 more
europepmc   +2 more sources

Functional expression of inwardly rectifying and ATP-sensitive potassium channels in human pulmonary artery smooth muscle and endothelial cells. [PDF]

J Physiol
Abstract figure legend Inwardly rectifying (Kir2) and ATP‐sensitive (KATP) potassium channels are functionally expressed in human pulmonary artery endothelial and smooth muscle cells. The schematic illustrates how Kir2‐ and KATP‐mediated K+ efflux contributes to VM regulation and pulmonary vascular tone.
Barreira B, Morales-Cano D, Moreno L, de Olaiz B, Adão R, Cogolludo A, Perez-Vizcaino F, Sancho M.   +7 more
europepmc   +2 more sources

Successful Isoproterenol Treatment for Ventricular Fibrillation Storm in Early Repolarization Syndrome With SCN5A Mutation. [PDF]

Ann Noninvasive Electrocardiol
Suppression of VF storm in ERS with SCN5A mutation using isoproterenol. ABSTRACT A 58‐year‐old man experienced a ventricular fibrillation storm with prominent inferolateral J waves and was diagnosed with early repolarization syndrome. Initial coronary angiography showed no significant stenosis and the other evaluations for ventricular fibrillation were
Kim SS, Byoun JT, Joo D, Ko JS, Kim NH, Jeong HK.   +5 more
europepmc   +2 more sources

Multiple vascular anomalies and refractory pericardial effusion in a young patient with Cantu syndrome: a case report and review of the literature

BMC Pediatrics, 2023
Background Cantu syndrome is a rare and complex multisystem disorder characterized by hypertrichosis, facial dysmorphism, osteochondroplasia and cardiac abnormalities.
Falastine Daas, Punita Gupta, Fuad Kiblawi   +2 more
doaj   +1 more source