Cantu Syndrome Latest Advances

Expanding the literature on Cantú syndrome: recognising early clinical and phenotypic clues.

Journal: BMJ case reports

Published: December 18, 2025

The Voice of Cantú: Lower Voice Pitch Is a New Phenotypic Feature of Cantú Syndrome.

Journal: American journal of medical genetics. Part A

Published: September 09, 2025

Cantu syndrome-associated SUR2[H60Y] mutation confers selective gain of function on Kir6.1 ATP-sensitive potassium channels.

Journal: The Journal of biological chemistry

Published: June 18, 2025

Muscle fatigue arising intrinsically from SUR2- but not Kir6.1-dependent gain-of-function in Cantu syndrome mice.

Journal: The Journal of general physiology

Published: February 12, 2025

Bayliss-Starling Prize Lecture: KATP channel pathophysiology - a whole-body odyssey.

Journal: The Journal of physiology

Published: January 28, 2025

Control of neurovascular coupling by ATP-sensitive potassium channels.

Journal: Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism

Published: January 17, 2025

Treatment of overactive KATP channels with glibenclamide in a zebrafish model and a clinical trial in humans with Cantú syndrome.

Journal: Scientific reports

Published: December 08, 2024

Cantú Syndrome With Acromegaloid Features, Multiple Endocrinopathies, and Infection Susceptibility.

Journal: JCEM case reports

Published: October 29, 2024

Clinical characteristics and genetic analysis of a child with Cantú syndrome due to variant of ABCC9 gene

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics

Published: September 30, 2024

A novel ABCC9 variant in a Greek family with Cantu syndrome affecting multiple generations highlights the functional role of the SUR2B NBD1.

Journal: American journal of medical genetics. Part A

Published: June 04, 2024

Mitochondrial Ca2+-coupled generation of reactive oxygen species, peroxynitrite formation, and endothelial dysfunction in Cantú syndrome.

Journal: JCI insight

Published: September 27, 2023

Electrophysiology of human iPSC-derived vascular smooth muscle cells and cell autonomous consequences of Cantu Syndrome mutations.

Journal: bioRxiv : the preprint server for biology

Published: July 10, 2023

Cantu Syndrome Latest Advances

Find the Latest Research About Cantu Syndrome

Expanding the literature on Cantú syndrome: recognising early clinical and phenotypic clues.

Expanding the literature on Cantú syndrome: recognising early clinical and phenotypic clues.

The Voice of Cantú: Lower Voice Pitch Is a New Phenotypic Feature of Cantú Syndrome.

The Voice of Cantú: Lower Voice Pitch Is a New Phenotypic Feature of Cantú Syndrome.

Cantu syndrome-associated SUR2[H60Y] mutation confers selective gain of function on Kir6.1 ATP-sensitive potassium channels.

Cantu syndrome-associated SUR2[H60Y] mutation confers selective gain of function on Kir6.1 ATP-sensitive potassium channels.

Muscle fatigue arising intrinsically from SUR2- but not Kir6.1-dependent gain-of-function in Cantu syndrome mice.

Muscle fatigue arising intrinsically from SUR2- but not Kir6.1-dependent gain-of-function in Cantu syndrome mice.

Bayliss-Starling Prize Lecture: KATP channel pathophysiology - a whole-body odyssey.

Bayliss-Starling Prize Lecture: KATP channel pathophysiology - a whole-body odyssey.

Control of neurovascular coupling by ATP-sensitive potassium channels.

Control of neurovascular coupling by ATP-sensitive potassium channels.

Treatment of overactive KATP channels with glibenclamide in a zebrafish model and a clinical trial in humans with Cantú syndrome.

Treatment of overactive KATP channels with glibenclamide in a zebrafish model and a clinical trial in humans with Cantú syndrome.

Cantú Syndrome With Acromegaloid Features, Multiple Endocrinopathies, and Infection Susceptibility.

Cantú Syndrome With Acromegaloid Features, Multiple Endocrinopathies, and Infection Susceptibility.

Clinical characteristics and genetic analysis of a child with Cantú syndrome due to variant of ABCC9 gene

Clinical characteristics and genetic analysis of a child with Cantú syndrome due to variant of ABCC9 gene

A novel ABCC9 variant in a Greek family with Cantu syndrome affecting multiple generations highlights the functional role of the SUR2B NBD1.

A novel ABCC9 variant in a Greek family with Cantu syndrome affecting multiple generations highlights the functional role of the SUR2B NBD1.

Mitochondrial Ca2+-coupled generation of reactive oxygen species, peroxynitrite formation, and endothelial dysfunction in Cantú syndrome.

Mitochondrial Ca2+-coupled generation of reactive oxygen species, peroxynitrite formation, and endothelial dysfunction in Cantú syndrome.

Electrophysiology of human iPSC-derived vascular smooth muscle cells and cell autonomous consequences of Cantu Syndrome mutations.

Electrophysiology of human iPSC-derived vascular smooth muscle cells and cell autonomous consequences of Cantu Syndrome mutations.