research Cantú Syndrome Is Caused by Mutations in ABCC9
Cantú syndrome is caused by mutations in the ABCC9 gene.
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research Differential expression and functionality of ATP-binding cassette transporters in the human hair follicle
Certain transporters are found in human hair follicles and may affect hair growth and loss.
research Cantú syndrome with coexisting familial pituitary adenoma
Cantú syndrome may be linked to pituitary adenomas.
research Skin and hair abnormalities of Cantu syndrome: A congenital hypertrichosis due to a genetic alteration mimicking the pharmacological effect of minoxidil
Cantu syndrome, which causes excessive hair growth and skin issues, is due to a mutation in the ABCC9 gene, and understanding this could help develop new treatments for hair diseases.
research Bridging Personal and Population in Excitability Diseases: Will Studies of Rare Diseases Bring Generalizable Mechanisms From Monogenic Channelopathies?
Studying rare genetic disorders can help us understand and treat common diseases better.
research Genome-wide association study in Japanese females identifies fifteen novel skin-related trait associations
Researchers found 15 new genetic links to skin traits in Japanese women.
research Pseudoxanthoma Elasticum: Progress in Research Toward Treatment: Summary of the 2012 PXE International Research Meeting
Significant progress was made in understanding PXE, but effective treatments are still needed.
research A woman with iatrogenic androgenetic alopecia responding to finasteride
EF and PXE not closely related.
research Early onset female pattern hair loss: a case–control study for analyzing clinical features and genetic variants
Early onset female hair loss is linked to lower hair density, scalp issues, and certain genetic factors.
research Decay of Skin-Specific Gene Modules in Pangolins
Pangolins have lost some skin-related genes, but kept others, leading to their unique scales and skin features.
research Convergent Decay of Skin-specific Gene Modules in Pangolins
Pangolins have lost some skin-related genes, but kept others, showing complex skin evolution.
research 068 Association of systemic involvement with skin morphology assessed by multiphoton microscopy in pseudoxanthoma elasticum
Skin changes in Pseudoxanthoma elasticum patients can indicate the severity of related health issues.
research Persistent Hypoglycemia and Macrosomia in a Newborn
A newborn with severe low blood sugar due to a genetic issue needed major surgery after standard treatments failed.
research Rapid Characterization of the Functional and Pharmacological Consequences of Cantú Syndrome KATPChannel Mutations in Intact Cells
Kir6.1 mutations in Cantú syndrome increase channel sensitivity and hyperpolarization, while SUR2B mutations do not.
research Management of Cutaneous and Extracutaneous Side Effects of Smoothened Inhibitor Therapy for Advanced Basal Cell Carcinoma
The document concludes that side effects from Smoothened inhibitor drugs for skin cancer are reversible and can be managed with a team approach to maintain quality of life.
research Alopecia in women submitted to childhood X-ray epilation for tinea capitis treatment
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.
research Novel ABCD1 Gene Mutation in Adrenomyeloneuropathy with Hypoplasia and Agenesis of the Corpus Callosum
Researchers found a new ABCD1 gene mutation linked to a rare brain and nerve disorder with unusual brain changes.
research K ATP Channels and Cardiovascular Disease
K_ATP channel gene mutations are linked to heart diseases, but more research is needed to understand the connection and treatment potential.
research The Emerging Structural Pharmacology of ATP-Sensitive Potassium Channels
KATP channels are important for energy balance and are targeted by drugs for diabetes, hypoglycemia, hypertension, and hair loss.
research Managing hyperglycemia and rash associated with alpelisib: expert consensus recommendations using the Delphi technique
Experts agree on how to manage sugar levels and skin reactions in patients taking the cancer drug alpelisib.
research Novel adenosine triphosphate (ATP)-binding cassette, subfamily A, member 12 (ABCA12) mutations associated with congenital ichthyosiform erythroderma
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.
research K channel therapeutics at the bedside
Potassium channel openers are effective in treating heart conditions, high blood pressure, pulmonary diseases, bladder issues, and hair loss, but more selective drugs are needed.
research Characterization of minoxidil/hydroxypropyl-β-cyclodextrin inclusion complex in aqueous alginate gel useful for alopecia management: Efficacy evaluation in male rat
The gel made of minoxidil and hydroxypropyl-β-cyclodextrin improves hair growth and is good for long-term use.
research Repurposing Kir6/SUR2 Channel Activator Minoxidil to Arrests Growth of Gynecologic Cancers
Minoxidil can stop the growth of ovarian cancer cells without harming the heart.
research Minoxidil for Endocrine Therapy–Induced Alopecia in Women With Breast Cancer—Saint Agatha’s Blessing?
Topical minoxidil improves hair loss in 80% of women with breast cancer undergoing endocrine therapy.
research Transcriptome analyses of reprogrammed feather / scale chimeric explants revealed co-expressed epithelial gene networks during organ specification
Key genes can rewire networks, changing skin appendage types.
research Differences in cell subsets between sun-exposed and unexposed skin: preliminary single-cell sequencing and biological analysis from a single case
Sun-exposed skin shows different cell activity and gene expression, suggesting targets to prevent skin aging and cancer.
research Minoxidil Cannot Be Used To Target Lysyl Hydroxylases during Postnatal Mouse Lung Development: A Cautionary Note
Minoxidil does not work to inhibit lysyl hydroxylases in newborn mouse lungs.
research A multi-omic single-cell landscape of perinatal mouse skin maps lineage specification and reveals shared dynamics in human fetal skin
Mouse and human skin development share similar fibroblast timelines.
research Expanding the therapeutic landscape of minoxidil for androgenetic alopecia: topical, oral and sublingual formulations
Minoxidil can treat hair loss with topical, oral, and sublingual options, offering personalized choices.