Results 41 to 50 of about 6,585 (184)

A new mutation for Cantu's syndrome

Journal of Education, Health and Sport, 2022
Introduction: Cantu syndrome is one of the rare genetic syndromes. Formally, there are no diagnostic criteria for Cantu syndrome, but given the characteristic appearance and reproducible features in people with a mutation in the ABCC9 gene, there is a ...
Julia Bargieł, Justyna Cabaj, Agata Tarkowska   +2 more
doaj   +1 more source

A Unique High‐Output Cardiac Hypertrophy Phenotype Arising From Low Systemic Vascular Resistance in Cantu Syndrome

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, 2022
Background Cardiomegaly caused by left ventricular hypertrophy is a risk factor for development of congestive heart failure, classically associated with decreased systolic and/or diastolic ventricular function.
Gautam K. Singh, Conor McClenaghan, Manish Aggarwal, Hongjie Gu, Maria S. Remedi, Dorothy K. Grange, Colin G. Nichols   +6 more
doaj   +1 more source

Abcc9 is required for the transition to oxidative metabolism in the newborn heart

The FASEB Journal, 2014
ABSTRACT The newborn heart adapts to postnatal life by shifting from a fetal glycolytic metabolism to a mitochondrial oxidative metabolism. Abcc9 , an ATP‐binding cassette family member, increases expression concomitant with this metabolic shift. Abcc9
John P, Fahrenbach, Douglas, Stoller, Gene, Kim, Nitin, Aggarwal, Babatunde, Yerokun, Judy U, Earley, Michele, Hadhazy, Nian-Qing, Shi, Jonathan C, Makielski, Elizabeth M, McNally   +9 more
openaire   +3 more sources

Involvement of SUR2/Kir6.1 channel in the physiopathology of pulmonary arterial hypertension

Frontiers in Cardiovascular Medicine, 2023
AimsWe hypothesized that the ATP-sensitive K+ channels (KATP) regulatory subunit (ABCC9) contributes to PAH pathogenesis. ABCC9 gene encodes for two regulatory subunits of KATP channels: the SUR2A and SUR2B proteins.
Hélène Le Ribeuz, Hélène Le Ribeuz, Bastien Masson, Bastien Masson, Mary Dutheil, Mary Dutheil, Mary Dutheil, Angèle Boët, Angèle Boët, Antoine Beauvais, Antoine Beauvais, Jessica Sabourin, Vincent Thomas De Montpreville, Véronique Capuano, Véronique Capuano, Véronique Capuano, Olaf Mercier, Marc Humbert, Marc Humbert, Marc Humbert, David Montani, David Montani, David Montani, Fabrice Antigny, Fabrice Antigny   +24 more
doaj   +1 more source

Additional file 1 of Inhibition of ABCC9 by zinc oxide nanoparticles induces ferroptosis and inhibits progression, attenuates doxorubicin resistance in breast cancer

, 2022
Additional file 1: Fig. S1. The expression of ABCC9 is elevated in clinical BC samples and associated with poor survival rate. (A) The expression of ABCC9 was analyzed by qPCR in clinical BC tissues (n = 152) and adjacent non-tumor tissues (n = 152). (B)
Shuang Li (146392), Zhe Fan (10730754), Yang Li (7082), Xiaoxue Zhang (1755322), Long Chen (315739), Zhixuan Liao (11996508), Qiang Zhang (45005), Cui Jiang (7362659), Shunxiong Tang (9949870)   +8 more
core   +1 more source

The Mechanism of High-Output Cardiac Hypertrophy Arising From Potassium Channel Gain-of-Function in Cantú Syndrome

Function, 2020
Dramatic cardiomegaly arising from gain-of-function (GoF) mutations in the ATP-sensitive potassium (KATP) channels genes, ABCC9 and KCNJ8, is a characteristic feature of Cantú syndrome (CS).
Conor McClenaghan, Yan Huang, Scot J Matkovich, Attila Kovacs, Carla J Weinheimer, Ron Perez, Thomas J Broekelmann, Theresa M Harter, Jin-Moo Lee, Maria S Remedi, Colin G Nichols   +10 more
doaj   +1 more source

Cantú syndrome: A new case and evolution of clinical conditions during first 2‐year follow‐up

Clinical Case Reports, 2023
Cantú syndrome, or hypertrichotic osteochondrodysplasia, is a rare autosomal dominant disease characterized by congenital hypertrichosis, characteristic dysmorphisms, skeletal abnormalities and cardiomegaly. We report on a 7‐year‐old girl with congenital
Alessandra Mattiucci, Giampiero Girolomoni, Matteo Cassina, Thomas Zoller, Franco Antoniazzi, Donatella Schena   +5 more
doaj   +1 more source

Complex consequences of Cantu syndrome SUR2 variant R1154Q in genetically modified mice

JCI Insight, 2021
Cantu syndrome (CS) is caused by gain-of-function (GOF) mutations in pore-forming (Kir6.1, KCNJ8) and accessory (SUR2, ABCC9) ATP-sensitive potassium (KATP) channel subunits, the most common mutations being SUR2[R1154Q] and SUR2[R1154W], carried by ...
Haixia Zhang, Alex Hanson, Tobias Scherf de Almeida, Christopher Emfinger, Conor McClenaghan, Theresa Harter, Zihan Yan, Paige E. Cooper, G. Schuyler Brown, Eric C. Arakel, Robert P. Mecham, Atilla Kovacs, Carmen M. Halabi, Blanche Schwappach, Maria S. Remedi, Colin G. Nichols   +15 more
doaj   +1 more source

Implication of Potassium Channels in the Pathophysiology of Pulmonary Arterial Hypertension

Biomolecules, 2020
Pulmonary arterial hypertension (PAH) is a rare and severe cardiopulmonary disease without curative treatments. PAH is a multifactorial disease that involves genetic predisposition, epigenetic factors, and environmental factors (drugs, toxins, viruses ...
Hélène Le Ribeuz, Véronique Capuano, Barbara Girerd, Marc Humbert, David Montani, Fabrice Antigny   +5 more
doaj   +1 more source

ABCC9 mutations identified in human dilated cardiomyopathy disrupt catalytic KATP channel gating [PDF]

Nature Genetics, 2004
Stress tolerance of the heart requires high-fidelity metabolic sensing by ATP-sensitive potassium (K(ATP)) channels that adjust membrane potential-dependent functions to match cellular energetic demand. Scanning of genomic DNA from individuals with heart failure and rhythm disturbances due to idiopathic dilated cardiomyopathy identified two mutations ...
Martin, Bienengraeber, Timothy M, Olson, Vitaliy A, Selivanov, Eva C, Kathmann, Fearghas, O'Cochlain, Fan, Gao, Amy B, Karger, Jeffrey D, Ballew, Denice M, Hodgson, Leonid V, Zingman, Yuan-Ping, Pang, Alexey E, Alekseev, Andre, Terzic   +12 more
openaire   +2 more sources