April 2016 in “Journal of Investigative Dermatology” Sonic hedgehog signaling is needed for the development of touch-receptor cells in the skin, and the loss of Polycomb repressive complex 2 can lead to more of these cells.
101 citations
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November 2019 in “The Plant Cell” AtZP1 protein stops root hair growth in plants by blocking certain genes.
2 citations
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May 2024 in “BMC Genomics” Certain genetic changes in the KRT82 gene may cause patchy skin in New Zealand rabbits.
1 citations
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November 2024 in “Diabetes Metabolic Syndrome and Obesity” A specific gene variant is linked to severe insulin resistance and hormone imbalance in a teenage girl.
20 citations
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September 2021 in “Nature communications” Cat color patterns are determined early in development by gene expression and epidermal changes, with the Dickkopf 4 gene playing a crucial role.
March 1998 in “Journal of Dermatological Science” Keratin-associated proteins may have roles in various mouse tissues, not just hair.
April 2017 in “Journal of Investigative Dermatology” A boy with Oculodentodigital syndrome had a unique GJA1 gene mutation causing his symptoms.
The naked mutation in mice causes hair loss and helps identify keratin genes.
14 citations
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May 2019 in “Human gene therapy” MC-DNA vector-based gene therapy can temporarily treat CBS deficiency in mice.
April 2023 in “Journal of Investigative Dermatology” Blocking casein kinase 1 in skin cells can help melanocyte precursors move better, potentially helping with conditions like vitiligo or gray hair.
Pvalb8 is essential for zebrafish hearing and hair cell development, and its mutation causes hearing loss.
April 2018 in “Journal of Investigative Dermatology” CENPV, a new partner of CYLD, helps regulate ciliary acetylated tubulin and is overexpressed in certain skin tumors.
February 2026 in “Biophysical Journal”
Plakophilin 1 helps control skin cell immune responses to prevent excessive inflammation.
June 2025 in “British Journal of Dermatology” A rare skin condition in a boy is likely due to a specific genetic mutation pattern.
27 citations
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June 2005 in “The journal of investigative dermatology/Journal of investigative dermatology” The study found that variations in hair protein genes are likely due to evolutionary deletions or duplications.
May 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Loss of TET2 increases the risk of skin and oral cancer.
37 citations
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August 1999 in “Journal of Investigative Dermatology” A specific gene mutation causes complete hair loss without other health issues.
Controlling Tslp can improve health in AEC syndrome patients.
July 2024 in “Indian Journal of Dermatology Venereology and Leprology” Certain gene variations in PITX2 are linked to a higher risk of male pattern baldness in Indians.
9 citations
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January 2014 in “Molecular Genetics and Metabolism Reports” The rhg mutation in mice affects the Oat gene, causing hair growth issues and other symptoms.
March 1998 in “Journal of dermatological science” Diphencyprone initially increases mouse hair growth, then slows it, possibly due to changes in specific protein levels.
Genetic mutations linked to ectodermal dysplasias and hair loss were identified in Pakistani families.
April 2024 in “Demiroglu Science University Florence Nightingale Journal of Medicine” Understanding the APCDD1 gene can lead to new hair loss treatments.
68 citations
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August 2009 in “American Journal of Medical Genetics Part A” A new classification for trichothiodystrophy helps identify genetic causes and potential treatments.
July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Tet2 and Tet3 enzymes are essential for controlling hair growth by affecting DNA demethylation and gene expression in mice.
28 citations
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December 1997 in “Journal of Biological Chemistry” A genetic mutation in the hHa1 gene creates a smaller, but still functional, hair protein without causing hair problems.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” p120-catenin helps control skin inflammation by regulating cadherin levels.
Mutations in specific genes cause different types of ectodermal dysplasias.
2 citations
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September 2022 The PER3 rs772027021 SNP may cause mild skin pigmentation changes in a new subtype of dyschromatosis universalis hereditaria.