6 citations
,
January 2011 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” An 11-year-old Greek girl was diagnosed with a rare genetic disorder, highlighting the importance of genetic testing and family history.
3 citations
,
August 2014 in “Journal of The American Academy of Dermatology” Filaggrin mutations are linked to atopic dermatitis and help explain how genetics and environment affect the disease.
47 citations
,
February 1998 in “Journal of bone and mineral research” A specific gene mutation causes vitamin D-resistant rickets and hair loss.
134 citations
,
February 2005 in “Neuropsychopharmacology” GABRA2 gene variations impact alcohol response, and hair loss medication finasteride reduces some effects.
139 citations
,
September 2001 in “The journal of investigative dermatology/Journal of investigative dermatology” Mutations in the Vitamin D receptor gene can cause hair loss similar to mutations in the Hairless gene.
July 2016 in “Cancer research” Mutant cells in hair follicles are influenced by their location and interactions with surrounding cells.
June 2025 in “British Journal of Dermatology” Ruxolitinib helped a woman with a genetic mutation regrow her hair and improved her health.
69 citations
,
December 2015 in “BMC plant biology” Three genes in Arabidopsis are important for plant growth and development by affecting sugar attachment to proteins.
26 citations
,
September 2010 in “Experimental Dermatology” Two gene areas linked to male pattern baldness found, more research needed.
67 citations
,
August 2004 in “Endocrinology” A specific gene mutation causes vitamin D resistance, but certain vitamin D analogs might help.
July 2025 in “Journal of Investigative Dermatology” Upadacitinib effectively treats pyoderma gangrenosum.
29 citations
,
June 2010 in “The Journal of Dermatology” Infants with severe KID syndrome may be more prone to serious infections and need close monitoring.
Giant axonal neuropathy changes the structure of keratin in human hair, making it stiffer and stronger.
17 citations
,
October 2006 in “Molecular and Cellular Endocrinology” The L457(3.43)R mutation in the human lutropin receptor causes increased activity and hormone insensitivity, leading to precocious puberty.
14 citations
,
December 2010 in “Journal of human genetics” A Japanese patient with IFAP syndrome had a severe MBTPS2 gene mutation but showed milder symptoms than previously observed cases.
25 citations
,
March 2007 in “The journal of investigative dermatology/Journal of investigative dermatology” A specific gene mutation causes varying hair loss severity in a Pakistani family.
May 2025 in “The FASEB Journal” Targeting the TNFRSF1B gene may help treat hair loss.
5 citations
,
July 2021 in “Endocrinology, diabetes & metabolism” Glioblastoma cells can make androgens, which might help the tumor grow.
April 2018 in “The journal of investigative dermatology/Journal of investigative dermatology” GATA6 is important for maintaining and differentiating cells in a key area of human skin.
24 citations
,
May 2019 in “PLOS genetics” Mutations in the HEPHL1 gene cause abnormal hair and cognitive issues.
32 citations
,
April 2019 in “JAAD case reports” JAK inhibitors helped treat hair loss in two people with Down syndrome.
3 citations
,
December 2021 in “Frontiers in endocrinology” A new mutation in the DCAF17 gene was found in a Chinese family, causing Woodhouse-Sakati syndrome and diabetes.
November 2025 in “Frontiers in Immunology” SQSTM1 gene issues may increase the risk of alopecia areata.
2 citations
,
August 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A specific mutation in the K25 gene causes a rare genetic disorder with curly hair at birth and later hair loss, along with dental issues.
June 2025 in “Molecular Genetics & Genomic Medicine” Severe genetic variants in children with a specific adrenal condition match predicted symptoms well, but milder variants do not.
20 citations
,
July 2017 in “Scientific Reports” A single amino acid change in the vitamin D receptor can disrupt its function and lead to hair loss.
6 citations
,
June 2018 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” Patients with the same genetic mutation for vitamin D-resistant rickets showed different symptoms but all improved with treatment except for hair loss.
August 2020 in “Pakistan Journal of Zoology” A new mutation in the Hairless gene causes hair loss in two Pakistani families.
15 citations
,
August 2013 in “Gene” The MTHFR C677T mutation may increase the risk of alopecia areata in the Turkish population.
30 citations
,
January 2013 in “Human Mutation” A mutation in the HOXC13 gene causes hair and nail problems in a Syrian family.