29 citations
,
January 2003 in “Genomics” A new mouse mutation causes skin and hair issues, influenced by another gene.
5 citations
,
October 2014 in “Gynecological Endocrinology” Triptorelin helps evaluate hormone production in Sertoli-Leydig cell tumors.
Mutations in the PADI3 gene may cause central centrifugal cicatricial alopecia in women of African ancestry.
30 citations
,
June 2016 in “Journal of Human Genetics” Researchers found genetic mutations causing hypohidrotic ectodermal dysplasia in 88% of studied patients and identified new mutations and genetic variations affecting the disease.
13 citations
,
September 2011 in “Archives of dermatology” A patient with steroid sulfatase deficiency had a unique hair pattern and a brain malformation not previously linked to the condition.
477 citations
,
March 2004 in “Proceedings of the National Academy of Sciences” The DMI3 gene is essential for nodule development and symbiosis in certain plants.
Defective nuclear transport may cause gene expression changes in Progeria.
1 citations
,
June 2022 in “Chinese medical journal/Chinese Medical Journal” Two new mutations in the CDH3 gene cause hair loss and vision problems in a young girl.
1 citations
,
January 2013 in “International Journal of Trichology” A girl with red hair developed hair-pulling and body image disorders after being bullied for her hair color.
25 citations
,
April 2019 in “Animals” KRTAP28-1 gene can help breed sheep with finer wool.
14 citations
,
March 2022 in “Plant Cell & Environment” The protein AtRXR3 limits root hair growth in Arabidopsis, affecting phosphorus uptake.
5 citations
,
July 2017 in “International journal of endocrinology and metabolism/International journal of endocrinology and metabolism.” Two siblings with a genetic mutation had a form of rickets that doesn't respond to vitamin D.
111 citations
,
April 2000 in “British journal of dermatology/British journal of dermatology, Supplement” Thyroid hormone receptor β1 is found in human hair follicles and helps them survive.
May 2025 in “Dermatology Reports” A genetic mutation in the LIPH gene causes a rare hair disorder with sparse, curly hair.
August 2021 in “Indian dermatology online journal” A young boy with a rare skin and nail condition improved significantly with simple topical treatments.
17 citations
,
June 2017 in “Gene” A rare genetic mutation found in an Indian family can be detected through prenatal screening.
1 citations
,
January 2020 in “Research Square (Research Square)” Inherited color dilution in Rex rabbits is linked to DNA methylation changes in hair follicles.
1 citations
,
February 1991 in “Journal of Biological Chemistry” 93 citations
,
May 1990 in “The EMBO Journal” Mice with extra sheep genes had hair that fell out and regrew in cycles.
56 citations
,
March 2010 in “Journal of Dermatology” Most cases of Temporal Triangular Alopecia are found in early childhood and may be related to genetic conditions.
4 citations
,
January 2014 in “International Journal of Trichology” A 12-year-old boy with a rare genetic condition has progressive hair loss with no effective treatment.
September 2024 in “Quality in Sport” Trichotillomania is an obsessive-compulsive disorder causing hair pulling, needing complex treatment to prevent serious issues.
29 citations
,
March 2000 in “Journal of Investigative Dermatology” The gene for Marie Unna hereditary hypotrichosis is located on chromosome 8p21.
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.
99 citations
,
March 2013 in “Journal of Investigative Dermatology” Mutations in the ABCB6 gene cause Dyschromatosis Universalis Hereditaria.
2 citations
,
January 2010 January 1990 in “Advances in forensic haemogenetics” Human hair protein patterns are inherited genetically.
April 2025 in “Journal of Skin and Stem Cell” PDRN from trout sperm helps skin and hair regeneration but is costly and complex to produce.
101 citations
,
October 2007 in “Journal of Biological Chemistry” Reduced matriptase activity causes skin and hair issues in both humans and mice.
June 2021 in “Scholars journal of applied medical sciences” Trichofolliculoma, a rare benign hair follicle tumor, can potentially recur.