34 citations
,
June 1992 in “Journal of Cutaneous Pathology” Harlequin ichthyosis involves abnormal skin cell structures and giant mitochondria, affecting skin and hair.
A new mutation in the TRPS1 gene caused Trichorhinophalangeal syndrome in a 17-year-old, highlighting the need for genetic testing.
30 citations
,
December 1996 in “Journal of Investigative Dermatology”
Older age, obesity, hirsutism, and having children increase metabolic risk in women with PCOS.
March 2009 in “Prenatal Diagnosis” Pregnancies in a woman with the Donohue mutation were managed with genetic testing, resulting in three healthy infants.
139 citations
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October 2005 in “Journal of Investigative Dermatology” The nail matrix has a reduced immune response, protecting it from autoimmunity.
44 citations
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April 2013 in “Proceedings of the National Academy of Sciences of the United States of America” FGF13 gene changes cause excessive hair growth in a rare condition.
36 citations
,
January 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” The document concludes that understanding genetic mutations in the PI3K-AKT-mTOR pathway can lead to better diagnosis and treatment for certain genetic skin disorders.
22 citations
,
June 2024 in “Cell” Understanding tissue self-organization can improve treatments for diseases and advance regenerative medicine.
16 citations
,
November 2024 in “Human Genetics and Genomics Advances” Nociplastic pain is a complex, heritable trait with genetic links to chronic and neuropathic pain.
14 citations
,
January 2014 in “Dermatology Research and Practice” Many infants in Northern Ethiopia have zinc deficiency.
12 citations
,
August 2007 in “Human Molecular Genetics” Lymphotoxin-β is crucial for proper skin development in embryos.
10 citations
,
July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Human nails and hair follicles have similar gene activity, especially in the cells that contribute to their growth and development.
7 citations
,
January 2008 in “Indian Journal of Dermatology” Pigmentary mosaicism causes skin color changes and can affect multiple body systems, but has no cure.
2 citations
,
January 2014 in “Case Reports in Clinical Medicine” Cronkhite-Canada syndrome is a rare condition causing gut polyps, hair loss, skin changes, and nail issues, often with a poor outlook.
December 2025 in “Current Issues in Molecular Biology” Cytarabine can cause multiple organ toxicities, especially neurotoxicity, but better research methods are needed to fully understand and predict these effects.
October 2025 in “JPRAS Open” Many are open to telemedicine for hair loss if combined with in-person visits and better technology.
May 2023 in “Pharmaceuticals” Three specific mutations in the LIPH gene can cause hair loss by damaging the protein's structure and function.
February 2022 in “Actas dermo-sifiliográficas/Actas dermo-sifiliográficas” Hair shaft disorders, often due to genetics or environment, lack specific treatments but can be managed with gentle hair care and may improve with age or topical treatments.
75 citations
,
October 1999 in “Differentiation” Mouse keratin 6 isoforms have different expression patterns in various tissues.
99 citations
,
October 2008 in “Journal of Investigative Dermatology” Mutations in the ST14 gene cause skin and hair issues by disrupting important protein processing.
6 citations
,
October 1998 in “PubMed” Antifungal treatment can improve severe skin infections with cutaneous horns.
29 citations
,
November 2011 in “Human Fertility” Many women with PCOS have undiagnosed health issues and show different symptoms based on the clinic they visit.
June 2022 in “Indian journal of clinical and experimental opthalmology” The report shows a young man with Hutchinson-Gilford Progeria Syndrome had typical and additional eye problems related to the disease.
65 citations
,
September 2014 in “BMC genomics” Different hair types in mammals are linked to variations in specific protein genes, with changes influenced by their living environments.
47 citations
,
July 2005 in “European Journal of Cell Biology” Terrestrial vertebrates have balanced keratin gene clusters, unlike teleost fish.
September 2025 in “Anti-Aging Eastern Europe” PCOS requires comprehensive, lifelong care addressing both visible and hidden health issues.
7 citations
,
August 2017 in “Journal of Evolution of Medical and Dental Sciences” Women with PCOS are more likely to have gum disease.
45 citations
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January 2006 in “Endocrine journal” To diagnose Polycystic Ovarian Syndrome, two out of three signs—irregular periods, high male hormone levels, or cysts on the ovaries—are needed.
June 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” Scientists created cell lines to study a genetic skin disorder using CRISPR technology.