78 citations
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May 2012 in “Journal of Investigative Dermatology” A specific gene mutation causes woolly hair and hair loss.
138 citations
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November 2015 in “Journal of Pharmacology and Experimental Therapeutics” Protoporphyrin IX is useful in cancer treatment but can cause health problems if not properly regulated.
2 citations
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July 2009 in “Mayo Clinic Proceedings” A 66-year-old woman with skin lesions and other symptoms improved after treatment for porphyria cutanea tarda.
There is no cure for myotonic dystrophy type 1, so treatment focuses on managing symptoms and complications.
April 2024 in “Cellular signalling” Activating TRPMLs helps human cells important for hair growth and increases hair growth in mice.
9 citations
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May 2019 in “Medicine” The C-allele and CC-genotype in the PTPN22 gene lower the risk of alopecia areata.
20 citations
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October 2005 in “Archives of Dermatological Research” August 2021 in “Indian dermatology online journal” A young boy with a rare skin and nail condition improved significantly with simple topical treatments.
7 citations
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December 2015 in “International Journal of Dermatology” New and known mutations in the hairless gene cause a hair loss condition called Atrichia with papular lesions.
19 citations
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May 2006 in “Clinical and Experimental Dermatology” Researchers found a new mutation causing total hair loss from birth.
3 citations
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January 2022 in “Medical Mycology Journal” Malassezia fungi in healthy noses can form a "spaghetti-and-meatballs" structure.
December 2025 in “International Journal of Surgery” GBP1 is a key target for treating Epstein-Barr virus-related kidney cancer, and finasteride may help.
52 citations
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January 2003 in “Journal of Investigative Dermatology” Thrombospondin-1 is crucial for hair follicle regression and reduced blood vessel growth during the catagen phase.
September 2024 in “Cureus” A new method improves platelet testing for heart disease patients.
September 2024 in “Dermatologica Sinica” Ponatinib can cause a rare skin reaction that resolves with topical treatment and temporary drug discontinuation.
475 citations
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October 2006 in “Proceedings of the National Academy of Sciences” Folliculin helps regulate energy and nutrient sensing, impacting Birt–Hogg–Dubé syndrome.
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November 2009 in “Journal of diabetes and its complications” Patients with Type 1 diabetes should be screened for pernicious anemia.
December 2022 in “Curēus” Genetic testing confirmed a young girl has Atrichia with Papular Lesions due to mutations in the hairless gene.
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December 2020 in “Endocrinology, diabetes & metabolism case reports” A man with hypoparathyroidism had other health issues that led to a diagnosis of a rare autoimmune disorder, APS-1.
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March 2015 in “Neurological Sciences” A new genetic mutation linked to CARASIL syndrome and small artery disease was found in a Chinese family.
April 2019 in “Journal of the Endocrine Society” A 12-year-old boy with PAIS successfully developed male characteristics using high-dose testosterone and anastrozole.
8 citations
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June 2016 in “Journal of Investigative Dermatology” A rare genetic deletion in the KRT1 gene causes unique skin symptoms in a family.
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July 2014 in “Experimental Dermatology” PTHRP agonists can stimulate hair growth, especially in damaged follicles, while antagonists may initially increase growth but ultimately inhibit it.
11 citations
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June 2017 in “Journal of cell science” AGD1's PH domain is essential for its role in root hair growth and polarity.
26 citations
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September 2009 in “Clinical genetics” Arab APS1 patients have unique and recurrent AIRE gene mutations.
26 citations
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October 1998 in “Experimental Dermatology” A keratin hHb6 mutation causes a hair disorder with varying severity, influenced by other factors.
10 citations
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June 2021 in “Journal of Investigative Dermatology” GPC1 is important for blood vessel growth in hair follicles and could help treat hair loss.
57 citations
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January 1987 in “Journal of Biological Chemistry” Different keratins have unique expression patterns in mouse skin cells.
April 2012 in “Informa Healthcare eBooks” Some drugs for inflammation may cause psoriasis-like hair loss.