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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.

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.

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.

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.

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.

This study identified novel genetic associations with skin phenotypes such as age-spots, freckles, and hair characteristics in Japanese women, providing insights into the genetic basis of these traits.

This review discusses the state-of-the-art knowledge on pseudoxanthoma elasticum, summarizing recent advancements in genetics, pathomechanisms, and potential treatments but reports no new clinical findings.

EF and PXE not closely related.

This study identified clinical features and genetic variants associated with early onset female pattern hair loss, highlighting decreased hair shaft density and specific SNPs related to androgenic features.

This study explored the molecular biology of skin adaptations in pangolins, revealing that certain genes for lipid synthesis have inactive patterns, while others related to skin function remain intact, suggesting complex evolutionary changes in their skin physiology.

This study investigated pangolin skin genetics, finding that while sweat gland-related genes are not inactivated, several genes related to sebaceous gland function are, which highlights complex evolutionary adaptations in mammalian skin.

This study found no significant difference in SARS-CoV2 IgG seroconversion rates between patients with immune-mediated inflammatory diseases treated with targeted immune-modulating therapies and those on conventional systemic treatments.

This study confirms that zebrafish engineered with Cantú Syndrome mutations in ABCC9 and KCNJ8 genes exhibit gain-of-function characteristics in their cardiovascular KATP channels, similar to mammalian counterparts.

This case report describes an infant with congenital hyperinsulinism linked to a genetic mutation in the ABCC8 gene, illustrating challenges in managing persistent hypoglycemia despite medical interventions, leading to a near-total pancreatectomy.

This study identified specific genetic markers related to wool quality in Rambouillet sheep, which may aid breeders in making informed selection and breeding decisions for improved fine wool production.

This study developed a new method to analyze Cantú syndrome mutations in KATP channels, finding that while Kir6.1 mutations increase sensitivity to potassium channel openers, SUR2B mutations show reduced sensitivity, but both result in marked hyperpolarization compared to wild-type channels under basal conditions.

This review discusses the mechanism and side effects of smoothened inhibitors for advanced basal cell carcinoma, reporting no new clinical results and highlighting current management strategies for these adverse events.

Women treated with X-ray for scalp fungus as children had a higher chance of hair loss, especially with higher radiation doses and severe fungus infections.

This study identified a new clinical variant of adult adrenomyeloneuropathy characterized by hypoplasia and agenesis of the corpus callosum, associated with a novel ABCD1 gene mutation.

This study reports that mutations in the SUR2 gene are linked to Cantu syndrome, highlighting the role of KATP channels in cardiovascular health and potential new therapies.

This study identified 11 previously unreported ABCA12 variants associated with varying severities of autosomal recessive congenital ichthyoses and expanded the phenotype spectrum of ichthyosis linked to these variants.

This article reviews current knowledge on KATP channel drug binding modes through cryogenic electron microscopy, highlighting distinct binding sites in the sulfonylurea receptor and potential mechanisms of drug action, but reports no new experimental results.

This study, using modified Delphi panels, provided consensus recommendations for managing alpelisib-induced hyperglycemia and rash, advising prophylactic metformin starting for certain risk groups and the use of nonsedating H1 antihistamines and topical steroids for initial rash management.

New ABCA12 gene mutations were linked to a skin condition with scaling and hair loss, and a treatment helped with hair loss in a related case.

This article reviews the therapeutic potential of potassium channel openers for various conditions related to metabolic distress but does not report new clinical results; it emphasizes the need for further research.

This study found that the MXD/HP-β-CD GEL formulation promoted greater hair growth and improved gene expression related to hair growth in male rats compared to MXD solution or control groups.

This study found that minoxidil stimulates the Kir6.2/SUR2 potassium channel, leading to tumor growth arrest in an ovarian cancer xenograft model by disrupting mitochondrial function and inducing cell death.

This abstract provided no research findings as it contains only website navigation and service information.

This study reveals that β-catenin and retinoic acid are key regulators in the gene networks controlling the fate of skin appendages, such as scales and feathers.

This study investigated single-cell changes in photoaged skin, revealing distinct cell clusters and increased activity in PD-L1 and PD-1 pathways in sun-exposed areas, enhancing understanding of UVA-induced skin damage and potential prevention targets for photoaging and UV-induced skin cancers.