The Mechanism of High-Output Cardiac Hypertrophy Arising From Potassium Channel Gain-of-Function in Cantú Syndrome [PDF]
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 +10 more
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Electrophysiology of Human iPSC-derived Vascular Smooth Muscle Cells and Cell-autonomous Consequences of Cantú Syndrome Mutations [PDF]
FunctionCantú syndrome (CS), a multisystem disease with a complex cardiovascular phenotype, is caused by gain-of-function (GoF) variants in the Kir6.1/SUR2 subunits of ATP-sensitive potassium (KATP) channels and is characterized by low systemic vascular ...
Alex Hanson +8 more
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Gain-of-function mutations in KATP channel subunits compromise colonic tight junction integrity and epithelial homeostasis in murine models of Cantú syndrome [PDF]
Frontiers in MedicineIntroductionCantú syndrome (CS) is a rare genetic disorder caused by gain-of-function (GOF) mutations in the KCNJ8 (Kir6.1) or ABCC9 (SUR2) subunits of ATP-sensitive potassium (KATP) channels.
Fatima Maqoud +10 more
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Pathophysiological Consequences of KATP Channel Overactivity and Pharmacological Response to Glibenclamide in Skeletal Muscle of a Murine Model of Cantù Syndrome [PDF]
Frontiers in Pharmacology, 2020 Cantù syndrome (CS) arises from mutations in ABCC9 and KCNJ8 genes that lead to gain of function (GOF) of ATP-sensitive potassium (KATP) channels containing SUR2A and Kir6.1 subunits, respectively, of KATP channels.
Rosa Scala +10 more
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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 +10 more
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Overactive ATP-Sensitive K+ Channels Compromise Lymphatic Contractile Function in Cantú Syndrome [PDF]
Function, 2023 Qadeer Aziz
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The Pathophysiology of Cardiac Abnormalities in Cantu Syndrome: Perspective on “The Mechanism of High-Output Cardiac Hypertrophy Arising From Potassium Channel Gain-of-Function in Cantú Syndrome” [PDF]
Function, 2020 Qadeer Aziz, Andrew Tinker
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Cantu syndrome induced by gene mutation: a case report [PDF]
Xin yixue, 2022 Cantu syndrome is a hyperhairy osteochondroplasia syndrome caused by abnormal function of ATP-dependent potassium ion channel, involving multiple systems, mainly manifested as hyperhairy body, skeletal muscle abnormalities and heart disease, etc. In this
Xu Dong, Huang Yongjian
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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 +2 more
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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 +5 more
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