5 citations
,
February 2019 in “The New England Journal of Medicine” Certain mutations in the PADI3 gene may increase the risk of developing a type of scarring hair loss common in women of African descent.
2 citations
,
May 2023 in “Journal of Advanced Research” Two mutations in KRT74 and EDAR genes cause sheep to have finer wool.
November 2016 in “Elsevier eBooks” Genetic mutations can affect female sexual development, requiring personalized medical care.
April 2016 in “Journal of Investigative Dermatology” Mutations in the TSPEAR gene cause a new form of ectodermal dysplasia affecting hair and tooth development.
144 citations
,
March 2013 in “Circulation Research” K_ATP channel gene mutations are linked to heart diseases, but more research is needed to understand the connection and treatment potential.
99 citations
,
December 2010 in “Journal of The European Academy of Dermatology and Venereology” The document concludes that certain genetic mutations and dietary factors are involved in acne development, and treatments like isotretinoin and diet changes can help manage it.
29 citations
,
February 2022 in “Frontiers in Cell and Developmental Biology” Improving CRISPR/Cas systems can make gene editing more efficient and precise.
June 2023 in “GSC Advanced Research and Reviews” Hutchinson-Gilford Progeria Syndrome causes rapid aging from a genetic mutation, with no cure but ongoing research into potential treatments.
7 citations
,
November 2020 in “Journal of Tissue Viability” Transplanting a person's own hair can heal chronic wounds in certain skin conditions.
44 citations
,
February 2021 in “Scientific Reports” Mutations in the spike protein affect drug binding and effectiveness.
2 citations
,
May 2017 in “International journal of pharmacy and pharmaceutical sciences/International Journal of Pharmacy and Pharmaceutical Sciences” Hutchinson-Gilford Progeria Syndrome is a rare genetic disorder caused by a specific gene mutation, characterized by aging symptoms and managed by monitoring heart health and using low-dose aspirin.
7 citations
,
January 2020 in “Journal of Dermatology” Cantu syndrome, which causes excessive hair growth and skin issues, is due to a mutation in the ABCC9 gene, and understanding this could help develop new treatments for hair diseases.
87 citations
,
March 2014 in “Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids” Cholesterol sulfate buildup due to a genetic mutation disrupts the skin barrier, leading to the scaling skin seen in X-linked ichthyosis.
Researchers made a mouse model with curly hair and hair loss by editing a gene.
December 2022 in “Curēus” Genetic testing confirmed a young girl has Atrichia with Papular Lesions due to mutations in the hairless gene.
January 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” Skin lesions in Carney complex are likely caused by a specific group of skin cells that promote pigment production due to a genetic mutation.
51 citations
,
December 2006 in “Mammalian Genome” 70 citations
,
January 2014 in “International review of cell and molecular biology” Keratin proteins are crucial for healthy skin, but mutations can cause skin disorders with no effective treatments yet.
31 citations
,
June 2011 in “Movement Disorders” The document describes a woman with familial Parkinson's disease due to a genetic mutation, showing severe symptoms and poor response to treatment, and suggests finasteride may help reduce symptoms in Tourette syndrome.
4 citations
,
May 2011 in “Movement Disorders” A woman's unique dementia was misdiagnosed, a genetic mutation increases Parkinson's risk with age, and finasteride may help with Tourette syndrome.
30 citations
,
October 2020 in “Nature Communications” Finasteride irreversibly affects human steroid 5α-reductase 2, providing insight into its catalytic mechanism and disease-related mutations.
3 citations
,
March 2017 in “International journal of women’s dermatology” Some domesticated animals have the same genetic skin diseases as humans, which can help doctors understand human genetic mutations.
2 citations
,
January 2019 in “Medizinische Genetik” The document reports findings on genetic research, including ethical concerns about genome editing, improved diagnosis of mitochondrial mutations, solving inherited eye diseases, confirming gene roles in epilepsy, linking a gene to aneurysms, and identifying genes associated with age-related macular degeneration.
March 2005 in “Journal of the American Academy of Dermatology” Recognizing minor skin lesions can help identify serious cancer syndromes.
4 citations
,
March 2000 in “Journal of Investigative Dermatology” The gene for Marie Unna hereditary hypotrichosis is located on chromosome 8p21, near the hairless gene.
June 2025 in “British Journal of Dermatology” A rare skin condition in a boy is likely due to a specific genetic mutation pattern.
Mutations in the PADI3 gene may cause central centrifugal cicatricial alopecia in women of African ancestry.
September 2019 in “Journal of Investigative Dermatology” CCCA in women of African ancestry may be caused by PADI3 gene mutations and intense hair grooming.
22 citations
,
September 2014 in “JAMA dermatology” Ichthyosis with confetti is a genetic skin disorder with consistent ectodermal malformations and various KRT10 gene mutations.
March 2026 in “Experimental Dermatology” The new model helps understand and develop treatments for genetic skin disorders like AEC.