148 citations,
May 2012 in “The American Journal of Human Genetics” Cantú syndrome is caused by mutations in the ABCC9 gene.
14 citations,
January 2018 in “Endocrine” Cantú syndrome may be linked to pituitary adenomas.
7 citations,
January 2020 in “Journal of Dermatology” 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.
1 citations,
August 2023 in “The journal of pharmacology and experimental therapeutics/The Journal of pharmacology and experimental therapeutics” Kir6.1 mutations in Cantú syndrome increase channel sensitivity and hyperpolarization, while SUR2B mutations do not.
February 2020 in “Biophysical journal” Zebrafish with mutations similar to human Cantú Syndrome have heart cells with altered channel properties, making them a good model to study the condition.
144 citations,
March 2013 in “Circulation Research” K_ATP channel gene mutations are linked to heart diseases, but more research is needed to understand the connection and treatment potential.
5 citations,
September 2015 in “Medical hypotheses” Topical sulfonylurea may reduce excessive hair growth caused by certain medications.
3 citations,
January 2023 in “American journal of physiology. Cell physiology” Inward rectifier potassium channels are important in many body functions and diseases, and could be potential drug targets.
January 2022 in “Function” Studying rare genetic disorders can help us understand and treat common diseases better.
November 2019 in “Harper's Textbook of Pediatric Dermatology” Understanding normal hair growth and loss in children is key to diagnosing and treating hair disorders.
2 citations,
January 2013 in “Elsevier eBooks” The document explains the genetic causes and characteristics of inherited hair disorders.
November 2019 in “Harper's Textbook of Pediatric Dermatology” The document is a detailed medical reference on skin and genetic disorders.
1 citations,
January 2013 in “Indian journal of dermatology, venereology, and leprology” A girl inherited excessive body hair from her mother and grandmother.
The document is a detailed guide on skin conditions and treatments for dermatologists.
19 citations,
October 2017 in “European Journal of Pharmaceutics and Biopharmaceutics” The gel made of minoxidil and hydroxypropyl-β-cyclodextrin improves hair growth and is good for long-term use.
9 citations,
April 2018 in “JAMA Dermatology” Topical minoxidil improves hair loss in 80% of women with breast cancer undergoing endocrine therapy.
6 citations,
May 2020 in “Pharmacology Research & Perspectives” A new gel form of minoxidil is equally effective for hair growth and safer for the heart and other organs than the traditional solution.
2 citations,
April 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” MendelVar is a tool that helps identify important genes by combining GWAS data with Mendelian disease information.
90 citations,
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October 2022 in “JAAD case reports” Low-dose oral minoxidil can cause serious heart complications.
3 citations,
April 2023 in “Frontiers in Pharmacology” ATP-sensitive K+ channel subunits, particularly Sur2A, play a significant role in various cancers.
March 2022 in “Journal of The American Academy of Dermatology” September 2021 in “Pediatrics in review” A baby with KID syndrome died from infections and organ failure at 18 months old.
60 citations,
August 2008 in “Human molecular genetics online/Human molecular genetics” A position effect on the TRPS1 gene causes excessive hair growth in humans and mice.
24 citations,
October 2014 in “Cold Spring Harbor Perspectives in Medicine” Genetic research has advanced our understanding of skin diseases, but complex conditions require an integrative approach for deeper insight.
12 citations,
February 2008 in “Journal of The American Academy of Dermatology” Combining skin tissue pathology with genetics has greatly improved the diagnosis and understanding of certain skin diseases.
12 citations,
September 2022 in “Foods” Some nutraceuticals may help in COVID-19 prevention and treatment, but more research is needed.
33 citations,
January 2011 in “Elsevier eBooks” Systemic Lupus Erythematosus has varied symptoms and is hard to diagnose, affecting many body parts and requiring careful clinical judgment.
28 citations,
May 1986 in “Clinics in endocrinology and metabolism” New compounds may soon be tested to treat excessive hair growth in women.
18 citations,
June 1995 in “International Journal of Dermatology” Women experience various skin issues at different life stages, requiring careful treatment and awareness.