December 2025 in “Egyptian Journal of Basic and Applied Sciences” FOXA1 and CCL2 genes are more active in women with PCOS, varying by phenotype.
July 2025 in “Human Genomics” New LSS gene variants help understand congenital hypotrichosis 14 better.
June 2025 in “British Journal of Dermatology” Ruxolitinib helped a woman with a genetic mutation regrow her hair and improved her health.
November 2024 in “Journal of Investigative Dermatology” Changes in scalp bacteria are linked to female hair loss, suggesting new treatment options.
October 2024 in “Journal of the Endocrine Society” A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requiring high doses of calcium and vitamin D for treatment.
June 2023 in “Zenodo (CERN European Organization for Nuclear Research)” Hutchinson-Gilford Progeria Syndrome causes rapid aging due to a gene mutation, with no cure yet, but research may lead to better treatments.
May 2023 in “International journal of molecular sciences” The ABCA4 gene protects hair follicle stem cells from toxic vitamin A byproducts.
January 2023 in “Journal of applied animal research” Short photoperiods improve cashmere growth and quality in goats by changing hormone levels and gene expression.
January 2023 in “Al-Azhar International Medical Journal /Al-Azhar International Medical Journal” Acne patients have higher mTOR gene expression.
December 2022 in “KSBB Journal” Activating TLR3 boosts autophagy gene expression in skin cells.
November 2022 in “Journal of the Endocrine Society” The patient likely has Chrousos syndrome, a rare condition causing insensitivity to glucocorticoids, requiring high-dose dexamethasone treatment.
October 2022 in “Medičnì perspektivi” Darier-White disease causes skin and nail issues, starts around age 20, worsens until 40-50, and has poor treatment options.
September 2022 in “Frontiers in genetics” A Chinese male with a new genetic mutation has a skin condition and severe urinary issues, with treatments having mixed success.
September 2022 in “Indian Journal of Paediatric Dermatology” Clouston syndrome is inherited in an autosomal dominant pattern and caused by a specific gene mutation, with no current treatment available.
August 2020 in “International Journal of Research in Dermatology” Clouston's syndrome is a rare disorder affecting nails, hair, teeth, and skin, caused by a gene mutation, and currently has no treatment, only supportive care.
July 2019 in “Journal of the Formosan Medical Association” Melatonin may help with nerve pain, a hepatitis C drug is effective but has side effects, a treatment for mouth sores works but can cause blood issues, ear reconstruction with an implant is safe, HIV transmission from mother to child in Taiwan is now 0% with treatment, certain blood problems are more common in people with a tongue condition, a gene and being overweight are linked to hair loss in some women, a new technique could reduce radiation for lung nodule patients, a hepatitis treatment may lower cancer recurrence after a procedure, and adding extra screening improves tuberculosis detection in patients with lung infections.
January 2018 in “Genetic engineering & biotechnology news” A genetic mutation linked to longer life and less disease was found in the Amish, and a drug is being developed to replicate these benefits.
July 2017 in “Contemporary Endocrinology” The document concludes that patient outcomes for Congenital Adrenal Hyperplasia are often not ideal because of poor management and a need for better diagnosis and treatment methods.
December 2016 in “Springer eBooks” Chrousos Syndrome is caused by mutations that make the body less sensitive to glucocorticoids, leading to various symptoms and requiring high-dose treatment.
May 2015 in “Journal of Investigative Dermatology” Wnt-3a helps grow more skin stem cells, which could lead to new hair loss treatments.
January 2010 in “Yearbook of Endocrinology” Two new compounds can block androgen receptor activity in different ways and may lead to new treatments for androgen-related diseases.
April 2008 in “Expert review of dermatology” Mutations in the P2RY5 gene cause hereditary woolly hair.
November 2007 in “Data Archiving and Networked Services (DANS)” Androgen receptors play a key role in male development and prostate cancer, with treatments targeting androgen action.
January 2005 in “mediaTUM – the media and publications repository of the Technical University Munich (Technical University Munich)” Vitamin D and glucocorticoids affect bone growth, metabolism, and immune response.
September 2016 in “Journal of dermatological science” The conclusion is that the variation in hair thinness in patients is mostly due to the amount of underdeveloped hairs, and treatments that thicken fine hairs might work for those with mild to severe conditions.
1 citations
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May 2019 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” Intravenous calcium therapy is a safe and effective treatment for a rare type of rickets.
68 citations
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May 2011 in “European Journal of Dermatology” Acne is caused by genetics, diet, hormones, and bacteria, with treatments not yet curative.
65 citations
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September 2010 in “Journal of the Neurological Sciences” Kennedy's disease leads to muscle weakness and sensory issues, has no cure but manageable symptoms, and future treatments look promising.
42 citations
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February 2017 in “Scientific Reports” Researchers found a way to create cells from stem cells that act like human cells important for hair growth and could be used for hair regeneration treatments.
41 citations
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October 2001 in “Experimental Dermatology” The nude gene is important for skin and hair development.