62 citations
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January 2004 in “The journal of investigative dermatology/Journal of investigative dermatology” A second domain of high sulfur KAP genes on chromosome 21q23 is crucial for hair structure.
January 2025 in “Repository of Digital Objects for Teaching Research and Culture (University of Valencia)” Non-coding RNAs may be key in diagnosing and treating rare skin disorders.
November 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” MOF controls skin development by regulating genes for mitochondria and cilia.
21 citations
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March 2003 in “Clinical and Experimental Dermatology” Mutations in the hHb6 gene cause the hair disorder monilethrix.
Inhibiting AP-1 changes skin tumor types and affects tumor cell identity.
3 citations
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March 2019 in “European Journal of Dermatology” A specific gene mutation (Y449H in K10) was found in a patient with severe skin disorder.
21 citations
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August 2007 in “Experimental Dermatology” Overexpression of hurpin in mice leads to abnormal skin and higher skin cancer risk.
3 citations
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January 1992 in “Clinical Pediatric Endocrinology” Patients with the same vitamin D receptor mutation showed different symptoms due to other factors.
28 citations
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December 2015 in “Journal of biological chemistry/The Journal of biological chemistry” Prostasin has two roles in skin: one for normal skin development without needing activation, and another for proper hair growth that requires activation.
40 citations
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February 2005 in “Fertility and Sterility” Some women with PCOS have CYP21 mutations and IRS1 variants, but these genetic factors are not major contributors to PCOS.
April 2023 in “Journal of Investigative Dermatology” POUF51 and HES3 are key in controlling stem cell numbers in psoriasis.
11 citations
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March 2020 in “American Journal of Medical Genetics Part A” A mutation in the EDNRA gene causes Oro-Oto-Cardiac syndrome, affecting face and heart development.
139 citations
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August 2006 in “Molecular and Cellular Biology” Rac1 is vital for hair follicle health but not needed for skin maintenance.
38 citations
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January 2014 in “Journal of Dermatological Science” Krtap11-1 is important for hair strength and structure.
April 2017 in “Journal of Investigative Dermatology” A boy with Oculodentodigital syndrome had a unique GJA1 gene mutation causing his symptoms.
30 citations
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January 2021 in “Journal of Clinical Immunology” FOXN1 mutations can cause varying immune and physical issues, with severity influenced by gene activity and possibly other factors.
101 citations
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November 2019 in “The Plant Cell” AtZP1 protein stops root hair growth in plants by blocking certain genes.
13 citations
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January 2018 in “Yonsei Medical Journal” A specific gene mutation causes Olmsted syndrome.
1 citations
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June 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” GTL1 is needed to control root hair growth and prevent problems when there are too many nutrients.
11 citations
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September 2012 in “The journal of investigative dermatology/Journal of investigative dermatology” A mutation in the KRT71 gene causes a hair disorder by disrupting hair follicle structure and texture.
October 2014 in “Cancer research” Blocking mTORC1 reduces skin tumor growth in mice.
14 citations
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March 2022 in “Plant Cell & Environment” The protein AtRXR3 limits root hair growth in Arabidopsis, affecting phosphorus uptake.
1 citations
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March 2023 in “Science Translational Medicine” Blocking a certain signal in the gp130 receptor can improve tissue healing and lessen osteoarthritis symptoms.
2 citations
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June 2023 in “Journal of cell science” Mutations in iRhom2 affect hair and skin in mice and are linked to esophageal cancer, with ADAM17 playing a crucial role.
12 citations
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December 2013 in “Immunological Investigations” The SNP rs6457452 is linked to a higher risk of alopecia areata in Koreans.
April 2024 in “Anais Brasileiros de Dermatologia” 101 citations
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June 2003 in “The EMBO Journal” Phospholipase Cδ1 is crucial for normal skin and hair development.
21 citations
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October 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” A specific gene change plus an additional mutation in the same gene cause hereditary trichilemmal cysts.
May 2025 in “The FASEB Journal” Targeting the TNFRSF1B gene may help treat hair loss.
Deleting the MAD2L1 gene in mice led to rapid tumor growth despite chromosomal instability.