June 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” The HoxC gene cluster and its enhancers are essential for developing hair and nails in mammals.
5 citations
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January 2017 in “Anais brasileiros de dermatologia/Anais Brasileiros de Dermatologia” Porokeratotic eccrine and hair follicle nevus is a very rare skin disorder possibly caused by a GJB2 gene mutation.
28 citations
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June 2012 in “International Journal of Molecular Medicine” Radiation damages hair stem cells and changes keratin expression, with Krt5 as a potential marker for radiation effects.
24 citations
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May 2021 in “Nature Communications” Cavity macrophages gather on organ surfaces but don't really invade or help repair the organs after injury.
April 2019 in “Journal of Investigative Dermatology” Researchers fixed gene mutations causing a skin disease in stem cells, which then improved skin grafts in mice.
January 2023 in “Indian dermatology online journal” A child with ectodermal dysplasia-syndactyly syndrome has a new mutation in the NECTIN4 gene.
January 1999 in “Journal of the European Academy of Dermatology and Venereology” RAPK is a rare skin disorder with pigmented spots, mainly on hands and feet, starting in youth.
July 2011 in “Journal of Nursing UFPE on line” Many women in Natal, Brazil, have polycystic ovaries according to ultrasound scans.
50 citations
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February 2016 in “Journal of Investigative Dermatology” A mutation in the KRT25 gene causes a rare hair disorder with thin, woolly hair.
26 citations
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October 1998 in “Experimental Dermatology” A keratin hHb6 mutation causes a hair disorder with varying severity, influenced by other factors.
February 2022 in “Skin research and technology” Reflective confocal microscopy can potentially diagnose epidermoid cysts without a biopsy.
72 citations
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November 2000 in “Archives of Dermatology” Excision with primary closure is an excellent treatment for extensive acne keloidalis nuchae.
26 citations
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June 2004 in “Clinical Genetics” The keratin 5 mutation in a family with epidermolysis bullosa simplex was due to mosaicism, not a new mutation.
26 citations
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April 2011 in “British Journal of Dermatology” New mutations in the DSG4 gene cause a rare hair condition.
January 2012 in “Durham e-Theses (Durham University)” Keratin 15 affects cell behavior and characteristics in skin cells.
24 citations
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January 1969 in “Archives of Dermatological Research” Hair malformations may occur due to timing issues in hair development.
August 2019 in “Journal of Investigative Dermatology” Frog skin cells need the protein desmoplakin for proper development and cell layer formation.
1 citations
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April 2021 in “IntechOpen eBooks” The PCR technique can identify genetic differences in a wool-related gene among different sheep breeds, which may help improve wool and pelt quality.
694 citations
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April 2000 in “Nature genetics” Msx2 deficiency in mice leads to bone growth and organ development problems.
February 2026 in “Pediatric Dermatology”
7 citations
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October 2018 in “BMC genomics” Key genes can rewire networks, changing skin appendage types.
3 citations
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December 2021 in “Proteins” Wool fiber curliness is linked to the presence of certain proteins and K38.
2 citations
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May 2018 in “Dermatologic Surgery” 23 citations
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October 2007 in “International journal of cancer” X-ray diffraction of hair might help detect breast cancer non-invasively.
394 citations
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October 2013 in “Nature”
November 2020 in “International journal of contemporary pediatrics” Two siblings had a rare immune disorder caused by a FOXN1 gene mutation.
July 2025 in “Clinical Case Reports” A new genetic mutation in the TRPS1 gene causes Trichorhinophalangeal Syndrome, leading to specific hair, dental, and bone issues.
3 citations
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September 2018 in “Journal of Structural Biology” Oxidized trichocyte keratin has a helical dislocation in its structure.
A new mutation in the TRPS1 gene caused Trichorhinophalangeal syndrome in a 17-year-old, highlighting the need for genetic testing.
February 2021 in “PubMed” A 2-year-old girl had a hair disorder not shared by her identical twin.