January 2022 in “Mammalian Genome” The wavy coat in NCT mice is caused by multiple genes, including a mutation in the Prss53 gene.
37 citations
,
October 2006 in “Archives of Biochemistry and Biophysics” A unique gene mutation causes vitamin D-resistant rickets without causing hair loss.
1 citations
,
January 2022 in “Annals of Dermatology” A new mutation in the MBTPS2 gene causes a mild form of IFAP syndrome.
47 citations
,
February 1998 in “Journal of bone and mineral research” A specific gene mutation causes vitamin D-resistant rickets and hair loss.
26 citations
,
June 2003 in “PubMed” Alpha-difluoromethylornithine prevents cancer in mice but causes hair loss.
27 citations
,
June 2005 in “The journal of investigative dermatology/Journal of investigative dermatology” The study found that variations in hair protein genes are likely due to evolutionary deletions or duplications.
30 citations
,
October 1999 in “Differentiation” Mutant MK6a transgenes in mice cause blistering, hair loss, and potential human alopecia.
September 2016 in “Journal of Dermatological Science” Certain gene mutations in Japanese people are linked to different types of hair loss, with some causing mild hair thinning and others leading to complete baldness.
2 citations
,
July 2021 in “Genes” A specific genetic change in the KRT71 gene causes a hair loss condition in Hereford cattle.
6 citations
,
November 2011 in “Journal of Dermatological Science” A new gene mutation may allow some piebaldism patients to regain skin color in white patches.
20 citations
,
February 2019 in “Genes” The study concludes that mutations in the AEBP1 gene can cause a form of Ehlers-Danlos syndrome and should be considered in diagnosis.
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.
97 citations
,
March 2006 in “Journal of Investigative Dermatology” Mutations in the DSG4 gene cause a severe form of brittle hair and skin issues.
1 citations
,
May 2023 in “European Journal of Human Genetics” Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.
October 2011 in “Journal of dermatology” A man with a rare skin condition and a new gene mutation developed high calcium levels due to his treatment.
Researchers made a mouse model with curly hair and hair loss by editing a gene.
3 citations
,
January 2019 in “Journal of Dermatology” The p.P25L mutation in the KRT5 gene causes a rare skin condition that worsens over time and may lead to hair loss starting in young adulthood.
2 citations
,
September 1998 in “Der Hautarzt” A gene mutation causes a rare hereditary hair loss, offering potential for new treatments.
4 citations
,
May 2020 in “Cureus” A new genetic mutation causing Werner's syndrome was found in an Indian man.
7 citations
,
June 2016 in “Bone Research” A Chinese family had a child with a specific gene mutation causing vitamin D-resistant rickets, but the child improved with calcium and low-dose calcitriol.
28 citations
,
October 2004 in “Differentiation” A gene deletion causes the "hairless" trait in Iffa Credo rats.
13 citations
,
January 2018 in “Yonsei Medical Journal” A specific gene mutation causes Olmsted syndrome.
23 citations
,
July 2003 in “Journal of Investigative Dermatology” Genetic testing for hairless gene mutations is crucial to correctly diagnose and treat atrichia with papular lesions.
April 2016 in “Journal of Investigative Dermatology” Mutations in the TSPEAR gene cause a new form of ectodermal dysplasia affecting hair and tooth development.
95 citations
,
February 2019 in “The New England Journal of Medicine” Mutations in the PADI3 gene are linked to a higher risk of scarring hair loss in women of African descent.
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.
3 citations
,
January 2021 in “Molecular genetics & genomic medicine” The study found two new mutations in a Chinese patient with severe biotinidase deficiency.
10 citations
,
April 2013 in “Journal of Investigative Dermatology” Epidermolytic ichthyosis can be inherited in a semidominant way with mild symptoms in carriers.
40 citations
,
June 2013 in “Scientific Reports” A gene variant in KRT71 causes the curly fur in Selkirk Rex cats.
6 citations
,
May 2016 in “Experimental Dermatology” The type of tumor suppressor gene lost affects the behavior of skin cancer.