136 citations,
July 2014 in “Proceedings of the National Academy of Sciences of the United States of America” FGF5 gene mutations cause unusually long eyelashes by affecting hair growth regulation.
89 citations,
March 2001 in “Endocrine practice” The guidelines help doctors diagnose and treat hormone-related disorders in women.
74 citations,
July 2008 in “Journal of Dermatological Case Reports” Trichoscopy is a quick and easy way to diagnose most genetic hair problems without invasive methods.
50 citations,
February 2013 in “Annals of Clinical Biochemistry” Understanding how DHT works is important for diagnosing and treating hormone-related disorders.
21 citations,
July 2022 in “Orphanet journal of rare diseases” New treatments for ichthyosis, like protein replacement and gene therapy, show promise and may become standard care.
21 citations,
January 2022 in “Pharmaceutics” Colchicine might help treat different skin diseases, but more research is needed to confirm its effectiveness and safe dosage.
20 citations,
January 2016 in “Open Journal of Endocrine and Metabolic Diseases” PCOS affects fertility and is linked to obesity and menstrual irregularities; lifestyle changes are recommended for treatment.
18 citations,
January 2018 in “BMC dermatology” A new mutation in the PLEC gene causes a rare condition with skin blistering, muscle weakness, and hair loss.
11 citations,
November 2017 in “Hong Kong Medical Journal” Polycystic ovary syndrome increases the risk of diabetes, heart disease, and endometrial cancer, and requires early treatment to manage these risks.
8 citations,
September 2005 in “Practical diabetes” PCOS is a condition causing irregular periods, excess male hormones, and infertility, often managed by targeting insulin resistance and specific symptoms.
7 citations,
January 2014 in “International Journal of Trichology” Primary idiopathic pseudopelade of Brocq causes gradual, scarring hair loss with no effective treatment.
3 citations,
April 2023 in “Frontiers in Pharmacology” ATP-sensitive K+ channel subunits, particularly Sur2A, play a significant role in various cancers.
3 citations,
November 2021 in “Applied Microscopy” Hair microscopy is a simple and cost-effective method to help diagnose systemic diseases in children.
3 citations,
November 2019 in “Journal of the ASEAN Federation of Endocrine Societies” A 20-year-old woman with a rare form of Turner syndrome showed improvement with hormonal therapy and needs comprehensive care.
March 2024 in “Indian Journal of Dermatology/Indian journal of dermatology” Using animal names for skin conditions helps with learning and memory.
February 2022 in “Actas dermo-sifiliográficas/Actas dermo-sifiliográficas” Hair shaft disorders, often due to genetics or environment, lack specific treatments but can be managed with gentle hair care and may improve with age or topical treatments.
March 2018 in “The journal of applied laboratory medicine” The rash on the infant indicated a serious underlying condition.
75 citations,
September 2007 in “Journal of Heredity” FGF5 gene mutations cause long hair in domestic cats.
69 citations,
January 2015 in “Cell & tissue research/Cell and tissue research” Keratin mutations cause skin diseases and could lead to new treatments.
37 citations,
November 2017 in “Medical Sciences” Melanoma's complexity requires personalized treatments due to key genetic mutations and tumor-initiating cells.
29 citations,
November 2022 in “Nature Medicine” Genetic variations greatly affect individual metabolism and can impact health and disease risk.
23 citations,
March 2017 in “JAAD case reports” The document suggests a possible link between FAM111B gene mutations and increased cancer risk, particularly pancreatic cancer.
23 citations,
January 2016 in “Journal of Nanjing Medical University” Overweight women with PCOS are more likely to have excess male hormones.
19 citations,
January 2015 in “Indian Journal of Dermatology” Skin changes in women with PCOS are mainly due to hormonal imbalances.
16 citations,
March 2021 in “EvoDevo” Different species use the same genes for tooth regeneration.
15 citations,
December 2021 in “Pharmaceutics” The study found key factors in the cause of hidradenitis suppurativa, its link to other diseases, and identified existing drugs that could potentially treat it.
15 citations,
December 2006 in “Clinical interventions in aging” 5 alpha-reductase inhibitors like finasteride may lower prostate cancer risk and improve cancer screening.
13 citations,
November 2017 in “Neurotoxicity research/Neurotoxicity resarch” Sodium metabisulfite increases sodium channel activity, leading to higher cell excitability and potential damage.
8 citations,
May 2022 in “Orphanet Journal of Rare Diseases” The UD-PrOZA program successfully diagnosed 18% of adult patients with rare diseases, often using genetic testing.
7 citations,
February 2017 in “Open veterinary journal” Tiger cubs fed artificial milk lacking certain amino acids developed eye problems and hair loss.