7 citations,
March 2015 in “British Journal of Dermatology” Applying minoxidil can help improve hair growth in people with hair loss caused by LIPH gene mutations.
7 citations,
February 2011 in “Journal of dermatology” The 736T>A mutation in the LIPH gene is common in Japanese people with autosomal recessive woolly hair.
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.
6 citations,
November 2017 in “Scientific reports” The R343H mutation in the VDR gene causes vitamin D-resistant rickets with alopecia by impairing specific gene activity.
5 citations,
June 2023 in “BMC genomics” A specific gene mutation causes long hair in Angora rabbits.
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,
May 2017 in “Journal of dermatological science” The combined treatment effectively managed severe skin issues in Olmsted syndrome.
5 citations,
September 2013 in “The Journal of Dermatology” Researchers found a new mutation in the HR gene causing hair loss and skin bumps in a Pakistani family.
4 citations,
January 2011 in “Annals of Dermatology” Researchers found a new mutation in the HR gene linked to a rare hair loss condition.
3 citations,
March 2019 in “European Journal of Dermatology” A specific gene mutation (Y449H in K10) was found in a patient with severe skin disorder.
3 citations,
March 2016 in “Experimental Dermatology” A mutation in the hairless gene speeds up severe itchy skin in mice on a special diet.
3 citations,
January 2013 in “Dermatology” New genetic mutations causing hair loss were found in a Chinese family.
3 citations,
February 2011 in “Journal of Biomedical Research/Journal of biomedical research” A new mutation in the KRT86 gene was found to cause the hair disorder monilethrix in a Han family.
3 citations,
January 2008 in “Endocrine journal” A new mutation linked to partial Androgen Insensitivity Syndrome and prostate cancer was found in a patient unhappy with their female gender assignment.
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.
2 citations,
May 2023 in “Journal of Advanced Research” Two mutations in KRT74 and EDAR genes cause sheep to have finer wool.
2 citations,
May 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” A TP63 gene mutation causes significant hair loss and mild skin, nail, and tooth abnormalities.
2 citations,
June 2014 in “مجلة مركز بحوث التقنيات الاحيائية” Five different TPO gene mutations were found in PCOS patients with thyroid hormone issues.
1 citations,
August 2019 in “Pediatric dermatology” Topical minoxidil helped an 8-year-old boy with a genetic hair disorder grow hair.
1 citations,
August 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” A new mutation in the TMEM173 gene and a risk allele in IFIH1 cause a unique set of immune-related symptoms.
1 citations,
January 2016 in “Australasian Journal of Dermatology” A rare genetic mutation caused unusual skin symptoms in a man with Blau syndrome.
1 citations,
March 2015 in “Journal of the European Academy of Dermatology and Venereology” A clinically suspected melanoma appeared benign under the microscope but was confirmed by specific tests and a rare mutation.
MFN2 mutations cause mitochondrial problems, leading to more upper body fat and lower leptin levels.
March 2024 in “Frontiers in endocrinology” A new MTX2 gene mutation caused a severe genetic disorder in a young Chinese girl.
December 2023 in “Journal of dermatological science” New mutations in MBTPS2 reduce its function and cause IFAP syndrome with unusual symptoms.
November 2023 in “Scientific Reports” A gene mutation in Lama3 is linked to a common type of hair loss.
June 2023 in “Medicine and Pharmacy Reports” A woman with a specific mutation causing adrenal gland issues faced fertility problems, but careful hormone therapy helped her manage it successfully.
January 2023 in “Indian dermatology online journal” A boy with Pachyonychia congenita has a confirmed gene mutation, highlighting the need for a local genetic database in India.
January 2023 in “Pesquisa Veterinária Brasileira” A KRT71 mutation in Hereford cattle in Uruguay causes thin, curly hair and scaly skin.
November 2022 in “Frontiers in pediatrics” A girl with skin rashes and low zinc levels improved with zinc supplements and had new gene mutations linked to her condition.