40 citations
,
November 2021 in “International Journal of Molecular Sciences” Mutant keratins cause inflammation in Epidermolysis Bullosa Simplex, suggesting targeting them could help treat the disorder.
40 citations
,
December 2010 in “Human Genetics” 38 citations
,
November 2020 in “International journal of biochemistry & cell biology” Keratin proteins are essential for keeping the cells in the human colon healthy and stable.
23 citations
,
January 1981 Hair is mostly made of three protein types: helical, high-sulfur, and high-tyrosine.
22 citations
,
September 2003 in “Journal of Investigative Dermatology” New mutations in the EBP gene cause CDPX2, affecting bones, skin, eyes, and hair, with females generally less affected than males.
14 citations
,
May 2016 in “International Journal of Molecular Sciences” PP2Acα is essential for proper hair and skin development.
12 citations
,
January 2023 in “Indian Dermatology Online Journal” Diagnosing and managing children's hair shaft disorders is challenging but essential.
9 citations
,
September 2019 in “PLoS ONE” K42 and K124 keratins are only found in horse hoof lamellae.
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.
7 citations
,
July 2013 in “InTech eBooks” Oral lichen planus is a chronic disease causing mouth discomfort and sometimes needs immunosuppressive treatment.
6 citations
,
September 2012 in “Our Dermatology Online” Retinoids are effective for various skin conditions and hair loss but have serious side effects, so low doses are recommended.
5 citations
,
January 2020
4 citations
,
April 2020 in “Dermatology practical & conceptual” Reflectance confocal microscopy is useful for diagnosing and monitoring skin diseases, but it has limitations and requires expertise for correct use.
3 citations
,
November 2021 in “Applied Microscopy” Hair microscopy is a simple and cost-effective method to help diagnose systemic diseases in children.
3 citations
,
January 2015 in “Indian journal of paediatric dermatology” Oral isotretinoin temporarily improved skin symptoms in a child with IFAP syndrome.
1 citations
,
September 2024 in “Veterinary Dermatology” Trichography is important for diagnosing hair fragility in Pomeranian dogs with hair cycle issues.
1 citations
,
December 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” Keeping β-catenin levels high in mammary cells disrupts their development and branching.
January 2026 in “Animal Genetics” A genetic variant in the GJB6 gene likely caused the Labrador's paw pad condition.
January 2026 in “Dermatologic Therapy” Folliculotropic Mycosis Fungoides requires stage-based treatment, with early stages using skin therapies and advanced stages needing aggressive treatments.
November 2025 in “Journal of Clinical Medicine” Alopecia areata patients should have eye check-ups due to increased risk of eye problems.
November 2025 in “Skin Health and Disease” Autosomal recessive woolly hair is rare and involves tightly coiled hair without other health issues.
September 2025 in “Animals” Key proteins and pathways are crucial for wool fineness, but more research is needed.
August 2025 in “Biomolecules” Fibroblast growth factors could be a better, safer treatment for hair loss than current options.
A new mutation in the TRPS1 gene caused Trichorhinophalangeal syndrome in a 17-year-old, highlighting the need for genetic testing.
December 2023 in “Indian Journal of Endocrinology and Metabolism” Early diagnosis, genetic testing, and innovative treatments are crucial for managing complex medical conditions.
November 2023 in “IntechOpen eBooks” Arsenic exposure from contaminated water severely damages the skin, causing hair loss, pigmentation changes, irritation, and can lead to skin cancer.
July 2023 in “Developmental medicine and child neurology/Developmental medicine & child neurology” DFMO treatment improves hair growth, muscle tone, and development in Bachmann-Bupp syndrome patients.
March 2023 in “Journal of Personalized Medicine” Functional nutrition evaluations can improve personalized wellness programs and help prevent chronic diseases.