September 2019 in “Journal of Investigative Dermatology” CCCA in women of African ancestry may be caused by PADI3 gene mutations and intense hair grooming.
7 citations
,
October 2022 in “Development” Overactive Wnt5a disrupts hair follicle orientation in mice.
54 citations
,
May 2001 in “Journal of Investigative Dermatology” Excessive putrescine causes hair loss in transgenic mice by disrupting hair follicle development.
35 citations
,
January 2006 in “Cancer Research” Mice with extra PKCδ resist chemical-induced skin cancer but not UV-induced.
57 citations
,
November 2017 in “Nature Communications” Researchers found 71 genetic regions linked to male pattern baldness, which account for 38% of its genetic risk.
12 citations
,
January 2016 in “Journal of Orofacial Orthopedics / Fortschritte der Kieferorthopädie” Researchers found a new mutation in the EDA gene that likely causes missing teeth and mild skin symptoms in one family.
10 citations
,
October 2000 in “PubMed” E6/E7 oncogenes in hair follicles cause continuous hair growth by skipping the resting phase.
10 citations
,
October 2016 in “Monoclonal antibodies in immunodiagnosis and immunotherapy” Researchers created specific antibodies that detect a protein important in development and various conditions, and can be used for research and diagnosis.
Defective nuclear transport may cause gene expression changes in Progeria.
September 2006 in “Experimental Dermatology” Targeting multiple pathways and understanding genetic mutations are crucial for effective melanoma therapy.
12 citations
,
January 2000 in “Biochemical and Biophysical Research Communications” The study mapped keratin 15 and 19 genes, aiding future genetic disorder research.
13 citations
,
July 2012 in “Pigment Cell & Melanoma Research” A mutation in the Adam10 gene causes freckle-like spots on Hairless mice.
81 citations
,
November 2012 in “Journal of the National Cancer Institute” The tumor suppressor gene FLCN affects mitochondrial function and energy use in cells.
41 citations
,
June 2022 in “Biomedicines” PCOS should be reclassified into two types based on hormone levels and symptoms.
98 citations
,
July 1983 in “Journal of Steroid Biochemistry” Individuals with this condition often develop male traits and identities at puberty despite being raised as females.
52 citations
,
January 2016 in “Sexual Development” Both genetic and hormonal factors are crucial for bird sex differentiation, and disturbances can cause sex reversal.
9 citations
,
May 2014 in “BMC medical genetics” A woman with a unique syndrome similar to TRPS has a genetic change near the TRPS1 gene, affecting its regulation.
46 citations
,
September 2007 in “Journal of Investigative Dermatology” January 2026 in “International Journal of Molecular Sciences” Eyebrow follicles are best for accurate genetic testing after stem cell transplants.
29 citations
,
October 2019 in “Journal of dermatological science” Studying premature aging syndromes helps understand human aging and suggests potential treatments.
178 citations
,
May 2006 in “Developmental Dynamics” Jumonji genes are important for development and their mutations can cause abnormalities, especially in the heart and brain.
12 citations
,
January 2016 in “Journal of Assisted Reproduction and Genetics” Certain gene variations are linked to higher male hormone levels in Chinese women with PCOS and insulin resistance.
April 2024 in “Human genomics” Identified genes linked to male-pattern baldness may help develop new treatments.
51 citations
,
May 2021 in “Nature Communications” High proliferation and cell delamination drive early skin development, while later stages may not rely on cell division orientation.
March 2026 in “JID Innovations” Aire mutation reduces alopecia areata, while Notch4 mutation prevents it in mice.
January 2014 in “Elsevier eBooks” The study concluded that genetic mutations affect human hair diseases and identified key genes and pathways involved in hair growth and cycling.
24 citations
,
May 2019 in “PLOS genetics” Mutations in the HEPHL1 gene cause abnormal hair and cognitive issues.
January 2025 in “Clinical Cosmetic and Investigational Dermatology” Genetic testing is crucial for diagnosing rare hair loss disorders.
September 2024 in “Frontiers in Genetics” A specific genetic marker is linked to male pattern baldness in Han Chinese men.