44 citations
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November 2009 in “Archives of Dermatology” CYLD mutations cause a variety of skin tumors with symptoms starting around age 16, and treatments are currently limited.
32 citations
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April 2014 in “The journal of investigative dermatology/Journal of investigative dermatology” Loss of keratin K2 causes skin problems and inflammation.
30 citations
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June 2016 in “Journal of Human Genetics” Researchers found genetic mutations causing hypohidrotic ectodermal dysplasia in 88% of studied patients and identified new mutations and genetic variations affecting the disease.
23 citations
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December 2017 in “Scientific Reports” ARL15 is important for fat cell development and the release of the hormone adiponectin.
12 citations
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February 1998 in “Gene” The B2 genes are crucial for hair growth in rats.
9 citations
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July 2021 in “Dermatology and Therapy” New treatments for epidermolysis bullosa show promise in improving patients' lives, but a cure is still not available.
9 citations
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April 2006 in “American Journal of Pathology” SGK3 is essential for proper hair growth and health.
6 citations
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April 2013 in “Journal of Investigative Dermatology” Spironolactone might lower the chance of getting rosacea.
4 citations
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January 2010 in “Journal of Veterinary Medical Science” The analyses helped identify different skin diseases in the two dogs.
3 citations
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July 2021 in “Life science alliance” PNKP is essential for keeping adult mouse progenitor cells healthy and growing normally.
2 citations
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January 2019 in “Medizinische Genetik” The document reports findings on genetic research, including ethical concerns about genome editing, improved diagnosis of mitochondrial mutations, solving inherited eye diseases, confirming gene roles in epilepsy, linking a gene to aneurysms, and identifying genes associated with age-related macular degeneration.
1 citations
,
November 2017 in “Expert opinion on orphan drugs” Scientists now better understand the genetics of hypohidrotic ectodermal dysplasia, leading to more accurate diagnoses and potential new treatments.
December 2025 in “Nature Communications” Blocking IL-17a can improve age-related smell loss in mice.
December 2025 in “Frontiers in Medicine” ARWH is a rare hair disorder with no cure, but potential treatments include minoxidil and other therapies.
October 2022 in “Endocrine journal” Testosterone and dihydrotestosterone treatments can help with penile growth in males with 5α-reductase type 2 deficiency, with dihydrotestosterone being more effective in infancy.
April 2018 in “Journal of Investigative Dermatology” Psoriasis patients are willing to pay less than the cost of biologic treatments for remission and don't expect complete or long-term symptom clearance.
April 2018 in “Journal of Investigative Dermatology” Watching, not removing, skin growths with moderate atypia and positive edges is okay; patients may get melanoma elsewhere, especially if they've had it before.
April 2018 in “Journal of Investigative Dermatology” Hydroxychloroquine may cause false results in tuberculosis tests for patients with autoimmune skin diseases.
October 2007 in “Journal of Investigative Dermatology” The meeting highlighted the genetic basis of female pattern hair loss and various skin health insights.
April 2018 in “Journal of Investigative Dermatology” Platelet Rich Plasma can potentially help in restoring hair loss, but more research with larger groups is needed to confirm its effectiveness and standardize its use.
157 citations
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May 2021 in “Endocrine Reviews” Early diagnosis and individualized treatment improve outcomes for Congenital Adrenal Hyperplasia.
97 citations
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March 2002 in “Molecular and cellular biology” Mutant CDP/Cux protein causes hair defects and reduced male fertility in mice.
81 citations
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September 2005 in “The American journal of pathology” Activin helps skin growth and healing mainly through stromal cells and affects keratinocytes based on its amount.
78 citations
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August 2012 in “Human molecular genetics online/Human molecular genetics” A new gene, JMJD1C, may affect testosterone levels in men.
74 citations
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January 2006 in “The journal of investigative dermatology/Journal of investigative dermatology” Mutations in the DSG4 gene can cause a rare hair disorder similar to monilethrix.
63 citations
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April 2010 in “Development” Compartmentalized organization might be crucial for stem cells to effectively respond to growth or injury.
59 citations
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June 2008 in “Journal of The American Academy of Dermatology” The article explains the genetic causes and symptoms of various hair disorders and highlights the need for more research to find treatments.
57 citations
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November 2006 in “International Journal of Cancer” A49T gene variant linked to higher prostate cancer risk, lower hormone levels, and slightly reduced balding risk.
41 citations
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November 2013 in “Experimental Dermatology” Leptin, a hormone, is important for starting hair growth.
32 citations
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February 1998 in “The journal of investigative dermatology/Journal of investigative dermatology” Two specific hair keratin genes are active during hair growth and decline as hair transitions to rest.