9 citations
,
June 2017 in “American journal of ophthalmology. Case reports” A new mutation in the CDH3 gene causes hair loss and vision problems in a young girl.
1 citations
,
March 2000 in “PubMed” A 16-year-old boy's alopecia areata progressed unusually to resemble male pattern baldness.
64 citations
,
August 2014 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” A deficiency in the TTC7A gene causes immune problems, gut issues, and hair loss.
February 2025 in “Journal of Investigative Dermatology” The ZIP13 variant is linked to abnormal hair quality.
January 2024 in “bioRxiv (Cold Spring Harbor Laboratory)” A specific enzyme is essential for proper hair follicle stem cell development and healthy skin.
1 citations
,
December 2016 in “Revista română de medicină de laborator” The NIPAL4 mutation c.527C>A is common in Romanian patients with autosomal recessive congenital ichthyosis.
1 citations
,
October 2021 in “Journal of Investigative Dermatology” 3 citations
,
January 2022 in “Burns & Trauma” CTHRC1 helps sweat glands recover by rebuilding nearby blood vessels.
November 2024 in “JAAD Case Reports” A 21-month-old boy has a rare genetic disorder causing sparse hair due to an LSS gene mutation.
13 citations
,
May 2023 in “Journal of Dermatological Science” Reduced SIRT1 in hair cells may cause alopecia areata by triggering immune responses.
3 citations
,
April 2012 in “Bioinformation” Two specific SNPs in the TRPS1 gene cause excessive hair growth by altering the protein's structure.
27 citations
,
June 2013 in “Genes & development” Cav1.2 affects hair growth and could be a target for hair loss treatments.
1 citations
,
August 2015 in “AACE Clinical Case Reports” A new gene mutation causes complete androgen insensitivity in a 16-year-old with a female appearance.
15 citations
,
December 2014 in “PLoS ONE” A mutation in the iRhom2 gene causes hairless mice due to abnormal hair follicle development.
2 citations
,
March 2024 in “Pediatric Dermatology” Two siblings have a rare hair condition caused by a new genetic variant.
33 citations
,
July 2007 in “Journal of cell science” Miz1 is essential for proper hair structure and growth.
53 citations
,
October 2003 in “Developmental Biology” Too much Sonic Hedgehog protein stops hair growth in embryos.
6 citations
,
August 2022 in “The Italian Journal of Pediatrics/Italian journal of pediatrics” New genetic mutations linked to rare skin disorders were found in three newborns.
1 citations
,
April 2025 in “BMC Veterinary Research” PSAT1 is key for hair growth and stem cell function in cashmere goats.
November 2025 in “Clinical Cosmetic and Investigational Dermatology” Tattoos may trigger autoimmune symptoms in some people.
3 citations
,
November 2021 in “Journal of Clinical Laboratory Analysis” hsa_circ_0001079 may help diagnose and treat hair loss.
3 citations
,
December 2022 in “The Neurologist” CARASIL, a rare genetic disorder, was confirmed in an Arabic woman, highlighting its rarity and need for stroke prevention.
6 citations
,
September 2015 in “Journal of Investigative Dermatology” Using special RNA to target a mutant gene fixed hair problems in mice.
1 citations
,
April 2017 in “Journal of Investigative Dermatology” A new one-step test can quickly identify skin cancer during surgery.
28 citations
,
July 2005 in “Journal of Investigative Dermatology” Sca-1+ cells in newborn mouse skin may become fat cells.
15 citations
,
February 2020 in “Journal of Investigative Dermatology” Ceramide Synthase 4 is crucial for healthy skin barrier function.
8 citations
,
January 1991 in “Soviet physics. Doklady” 5 citations
,
July 2024 in “Journal of Microbiology and Biotechnology” ICP5249 helps hair grow by activating a specific cell pathway.
41 citations
,
December 1988 in “Journal of Investigative Dermatology” January 2000 in “The Mouseion at the JAXlibrary (Jackson Laboratory)” The lanceolate hair-J mutation in mice helps understand human hair disorders like Netherton's syndrome.