11 citations
,
January 2013 in “International Journal of Trichology” A man got an allergic skin reaction from using superglue on a wig.
42 citations
,
July 2013 in “Gene” IL-4 gene variation may increase the risk of alopecia areata in Turkish people.
10 citations
,
September 2019 in “Experimental Eye Research” The enzyme RDH12 plays a role in vision and retinal disease, with mutations leading to early onset visual loss and blindness, but the exact disease mechanism is unclear and there are no treatments yet.
4 citations
,
October 2003 in “Annales de Génétique” A specific gene mutation causes different hair defects in Indian monilethrix families.
September 2025 in “JCEM Case Reports” Consider rare forms of CAH for accurate diagnosis and treatment.
April 2025 in “Experimental Eye Research” The Oat mouse model shows mild retinal degeneration, useful for testing treatments.
February 2023 in “JEADV Clinical Practice” Biotin supplements significantly improved a young girl's uncombable hair.
55 citations
,
March 2014 in “EMBO Reports” Protein ubiquitylation is crucial for controlling stem cell functions and could be targeted for cancer treatment.
1 citations
,
May 2023 in “Frontiers in Endocrinology” Autism's genetics are linked with early age of puberty and less hair loss, but not with hormone levels or polycystic ovary syndrome.
23 citations
,
January 2017 in “BMC Medical Genetics” A new CDH3 gene mutation was found in a Spanish patient with sparse hair and eye issues.
238 citations
,
October 1994 in “Current opinion in genetics & development” The document concludes that recent research has improved understanding of skin diseases and the balance between cell growth and differentiation in the epidermis.
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.
99 citations
,
October 2008 in “Journal of Investigative Dermatology” Mutations in the ST14 gene cause skin and hair issues by disrupting important protein processing.
57 citations
,
August 2002 in “American Journal Of Pathology” Cathepsin L deficiency causes hair and skin issues in mice.
49 citations
,
June 2019 in “eLife” Ancient DNA blocks are still present in human genomes, possibly due to advantages they provide.
41 citations
,
July 2018 in “Frontiers in Neurology” Myotonic dystrophy may be classified as a segmental progeroid disorder.
22 citations
,
December 2015 in “The journal of investigative dermatology/Journal of investigative dermatology” A mouse gene mutation increases the risk of skin cancer.
18 citations
,
October 2021 in “Frontiers in Physiology” Lipocalin-Type Prostaglandin D2 Synthase (L-PGDS) is a protein that plays many roles in the body, including sleep regulation, pain management, food intake, and protection against harmful substances. It also affects fat metabolism, glucose intolerance, cell maturation, and is involved in various diseases like diabetes, cancer, and arthritis. It can influence sex organ development and embryonic cell differentiation, and its levels can be used as a diagnostic marker for certain conditions.
15 citations
,
October 2012 in “Journal of child neurology” The same genetic mutation in Sjögren-Larsson syndrome can lead to different levels of severity, suggesting other factors influence the symptoms.
14 citations
,
March 2018 in “The American journal of case reports” People with the same genetic mutation for Woodhouse-Sakati syndrome can have different symptoms.
11 citations
,
January 2021 in “British Journal of Dermatology” Mutations in the AP1B1 gene cause a new syndrome with skin, hearing, and developmental issues.
5 citations
,
November 2022 in “Animal Genetics” Genomic research can help improve the quality and production of natural fibers in animals.
5 citations
,
April 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A new therapy for a skin blistering condition has not been developed yet.
5 citations
,
December 2021 in “Pediatric investigation” Testosterone undecanoate safely and effectively increased penis size in male children with 5-alpha-reductase deficiency.
June 2023 in “Frontiers in Genetics” Genes related to calcium signaling and lipid metabolism are important for curly hair in Mangalitza pigs.
April 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” Certain surgical methods are better than routine incision for hidradenitis suppurativa, topical clindamycin and acitretin are effective treatments, men with HS have a risk of skin cancer, HS patients are more likely to die from heart problems, and specific genetic markers are linked to treatment response.
Hair cortisol may help identify adrenal insufficiency in sickle cell disease patients.
A new mutation in the CYP11B1 gene was found in a woman with mild hyperandrogenemia, a rare cause of non-classic congenital adrenal hyperplasia.
May 2025 in “Acta Dermato Venereologica” The Paxbp1 gene is crucial for healthy hair follicles.