8 citations,
December 2019 in “Molecular genetics and metabolism reports” Some children in Malaysia with symptoms have either profound or partial biotinidase deficiency, and early testing and treatment are important.
8 citations,
December 2009 in “Journal of The European Academy of Dermatology and Venereology” Researchers found a new mutation in the FERMT1 gene in a Spanish family with Kindler syndrome.
8 citations,
March 2007 in “The journal of investigative dermatology/Journal of investigative dermatology” The near-naked hairless mutation causes hair loss but is not due to a mutation in the hairless gene itself.
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.
July 2024 in “Journal of Dermatological Treatment” Botanical extracts and Minoxidil improved hair condition in a boy with a genetic disorder.
March 2024 in “Frontiers in endocrinology” A new MTX2 gene mutation caused a severe genetic disorder in a young Chinese girl.
November 2023 in “Scientific Reports” A gene mutation in Lama3 is linked to a common type of hair loss.
October 2023 in “Journal of dermatological science” New mutations in MBTPS2 reduce its function and cause IFAP syndrome with unusual symptoms.