61 citations
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September 1994 in “Journal of Medical Genetics” Pachyonychia congenita is linked to a keratin gene on chromosome 17.
May 2024 in “Indian journal of child health” A 7-year-old girl had a non-painful skin growth at her belly button, which was removed and identified as a keratinous cyst.
November 2007 in “Pediatrics in review” A boy with long QT syndrome was treated successfully, highlighting the need for careful evaluation of chest pain in children for heart conditions like LQTS.
January 2026 in “Indian Journal of Ophthalmology - Case Reports” Trichilemmal cysts can appear on children's eyelids and may be mistaken for other conditions.
5 citations
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July 2020 in “Experimental Physiology” Traditional methods may not fully capture how the brain and breathing systems respond to carbon dioxide changes.
46 citations
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April 1987 in “Brain Research”
1 citations
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June 2022 in “Curēus” Early detection and multidisciplinary treatment are crucial for managing Papillon-Lefévre syndrome.
March 2021 in “Revista da Associação Médica Brasileira”
April 2023 in “Cancer research” KRTAP2-3 could help predict cancer recurrence by identifying specific cancer cells.
April 2023 in “Journal of Investigative Dermatology” The document's conclusion cannot be provided because the content is not accessible.
January 1999 in “American Journal of Medical Genetics Part A” The report expanded knowledge of MBTPS1-related disorders by identifying new symptoms.
April 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” RPGRIP1L helps skin cells stick together by blocking PKCβII, which can prevent skin blistering like in pemphigus.
232 citations
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July 1995 in “Nature Genetics” 64 citations
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January 1995 in “Cells Tissues Organs” Merkel cells develop independently of nerves and are linked to specific hair follicles in mice.
2 citations
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March 2022 in “Portuguese Journal of Nephrology & Hypertension” A rare EGFR mutation in newborns leads to severe health issues and early death.
January 2020 in “Työväentutkimus Vuosikirja” Corneal health relies on cell migration and cooperation with the lacrimal gland, not Bmi1+ cells, and Eda gene mutations can cause dry eye disease.
March 2023 in “International journal of integrated medical research” Keratosis pilaris is a common skin condition where hair follicles get clogged with keratin, mostly on the arms and thighs.
2 citations
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August 2004 in “Veterinary Dermatology” A dog with a hereditary skin condition causing blisters and hair loss survived for a year.
17 citations
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September 2010 in “Pediatric dermatology” A 15-year-old with KID syndrome developed a rare skin condition called PEHFN.
October 1984 in “Immunology Today”
81 citations
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February 2019 in “Experimental & Molecular Medicine” PAK4 is crucial in cancer progression, brain development, and could be a therapeutic target, especially through the PAK4-CREB axis.
9 citations
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May 1989 in “Journal of the Royal Society of Medicine” An elderly woman's swollen, painful foot was found to be caused by a rare type of bone lymphoma, which improved with radiation treatment.
24 citations
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July 2014 in “Journal of Investigative Dermatology” Nagashima-type palmoplantar keratosis in Asians is caused by a SERPINB7 gene mutation.
May 2023 in “Elsevier eBooks” Platelet-rich plasma may help heal injuries.
February 2022 in “Skin research and technology” Reflective confocal microscopy can potentially diagnose epidermoid cysts without a biopsy.
65 citations
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September 2010 in “Journal of the Neurological Sciences” Kennedy's disease leads to muscle weakness and sensory issues, has no cure but manageable symptoms, and future treatments look promising.
1 citations
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January 2019 in “Pan African Medical Journal” Keratosis pilaris causes small skin bumps, mainly in women, and treatments offer only temporary relief.
September 2023 in “Journal of the American Academy of Dermatology” BAP1 mutations are rare in pediatric melanocytic tumors and may develop later in life.
Low Level Laser Therapy may improve noise-induced hearing loss.
35 citations
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October 2002 in “Biochemical and Biophysical Research Communications” The research cloned keratin 7 genes from humans, mice, and marsupials, found similarities between human and mouse genes, and discovered new areas of K7 expression in mice.