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.
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.
2 citations
,
June 2021 in “Research Square (Research Square)” A new gene mutation causes long hair in some Maine Coon cats.
4 citations
,
January 2011 in “Annals of Dermatology” Researchers found a new mutation in the HR gene linked to a rare hair loss condition.
September 2022 in “Frontiers in genetics” A Chinese male with a new genetic mutation has a skin condition and severe urinary issues, with treatments having mixed success.
30 citations
,
January 2021 in “Journal of Clinical Immunology” FOXN1 mutations can cause varying immune and physical issues, with severity influenced by gene activity and possibly other factors.
115 citations
,
October 2009 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” The research found that Atypical Progeroid Syndrome has unique symptoms and is not caused by the buildup of a certain mutant protein.
6 citations
,
January 2020 in “BMC Medical Genetics” A new mutation in the STS gene causes X-linked ichthyosis, even in rare female cases.
17 citations
,
June 2017 in “Gene” A rare genetic mutation found in an Indian family can be detected through prenatal screening.
78 citations
,
May 2012 in “Journal of Investigative Dermatology” A specific gene mutation causes woolly hair and hair loss.
33 citations
,
September 2017 in “Journal of Investigative Dermatology” A mutation in the KRT25 gene causes woolly hair and hair loss.
November 2023 in “Scientific Reports” A gene mutation in Lama3 is linked to a common type of hair loss.
50 citations
,
February 2004 in “Genomics” A gene mutation causes lanceolate hair in rats by disrupting hair shaft integrity.
March 2024 in “Frontiers in endocrinology” A new MTX2 gene mutation caused a severe genetic disorder in a young Chinese girl.
28 citations
,
February 2010 in “British journal of dermatology/British journal of dermatology, Supplement” WNT10A mutations cause varied symptoms in patients with odonto-onycho-dermal dysplasia.
11 citations
,
January 2020 in “BMC pediatrics” New mutations in the SLC39A4 gene found in twins help understand the genetic cause of acrodermatitis enteropathica.
7 citations
,
December 2015 in “International Journal of Dermatology” New and known mutations in the hairless gene cause a hair loss condition called Atrichia with papular lesions.
56 citations
,
January 2014 in “Journal of Investigative Dermatology” Olmsted syndrome can be inherited as an autosomal recessive trait due to a rare TRPV3 gene mutation.
75 citations
,
October 2010 in “Mammalian genome” Sphynx cats are hairless and Devon Rex cats have curly hair due to specific genetic mutations.
50 citations
,
September 2009 in “Molecular Genetics and Metabolism” A new gene mutation causes vitamin D resistance and rickets, treatable with calcium therapy.
13 citations
,
January 2018 in “Yonsei Medical Journal” A specific gene mutation causes Olmsted syndrome.
12 citations
,
July 2016 in “British journal of dermatology/British journal of dermatology, Supplement” Different hair fiber development might explain why hair loss severity varies in patients with a specific genetic mutation, and treatments that thicken hair could help.
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.
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.
3 citations
,
June 2022 in “European journal of human genetics” A new type of pachyonychia congenita linked to a specific keratin gene mutation was found in two Pakistani families.
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.
18 citations
,
November 2009 in “Calcified tissue international” A genetic mutation caused severe rickets and alopecia in an Indian patient, but high-dose calcium and phosphate treatment improved their condition.
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.
148 citations
,
May 2012 in “The American Journal of Human Genetics” Cantú syndrome is caused by mutations in the ABCC9 gene.
23 citations
,
January 2017 in “BMC Medical Genetics” A new CDH3 gene mutation was found in a Spanish patient with sparse hair and eye issues.