research Cantú Syndrome Is Caused by Mutations in ABCC9
This study identified heterozygous mutations in the ABCC9 gene as the genetic basis of Cantú syndrome, suggesting the syndrome as a new member of potassium channelopathies.
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research Differential expression and functionality of ATP-binding cassette transporters in the human hair follicle
This study found various ABC transporters are transcribed in human hair follicles, suggesting their possible role in HF biology and potential for new therapeutic interventions.
research Cantú syndrome with coexisting familial pituitary adenoma
This report describes a three-generation family with Cantú syndrome linked to a novel ABCC9 gene variant, featuring acromegaloid appearance and hypertrichosis without growth hormone abnormalities, and suggests a potential association with pituitary adenomas.
research Skin and hair abnormalities of Cantu syndrome: A congenital hypertrichosis due to a genetic alteration mimicking the pharmacological effect of minoxidil
This study described specific skin and hair follicle abnormalities in three Japanese patients with Cantu syndrome, which may relate to the regulation role of SUR2 in hair follicle growth.
research Bridging Personal and Population in Excitability Diseases: Will Studies of Rare Diseases Bring Generalizable Mechanisms From Monogenic Channelopathies?
This article analyzes the potential for insights from monogenic disorders to inform the understanding and treatment of common polygenic diseases, though complete predictability based on genotype remains unrealistic.
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