September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” Certain proteins are significantly increased in the skin of people with hidradenitis suppurativa.
7 citations
,
January 2024 in “Cancer Research Communications” TAp63 and NRF2 work together to manage oxidative stress, preventing premature aging and aiding skin functions.
1 citations
,
October 2023 in “PROTOPLASMA”
72 citations
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November 2012 in “PloS one” The protein folliculin, involved in a rare disease, works with another protein to control how cells stick together and their organization, and changes in this interaction can lead to disease symptoms.
11 citations
,
August 2010 in “Developmental neurobiology” Ptprq has multiple forms that change during inner ear development.
May 2017 in “Journal of The American Academy of Dermatology” PLAU and SerpinB2 affect cell death differently in various forms of leprosy and could be targets for new treatments.
August 2016 in “Journal of Investigative Dermatology” Researchers found a new genetic mutation linked to a hair condition in a Japanese boy.
February 2016 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” A new TP63 mutation was found in a baby with EEC syndrome, showing the need for TREC testing to check for immune issues.
6 citations
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October 2012 in “Journal of Heredity” The Itpr3 gene causes a specific hair pattern in mice.
November 2022 in “Journal of Investigative Dermatology” ILC1-like cells can cause alopecia areata by themselves.
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103 citations
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March 2015 in “Nature Communications” A genetic region near the PAX1 gene is linked to a higher risk of scoliosis in females.
32 citations
,
November 2016 in “Journal of Dental Research” Pannexin 3 is important for bone formation and the development of bone cells.
16 citations
,
September 2006 in “Journal of Cutaneous Pathology” P63 is a marker for epidermal stem cells in rats.
March 2026 in “Adipocyte” Spt4 and Spt6 are essential for fat cell development.
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” A new mutation in the STING protein causes a disease with lupus-like symptoms and responds well to a specific inhibitor treatment.
7 citations
,
February 2011 in “Journal of dermatology” The 736T>A mutation in the LIPH gene is common in Japanese people with autosomal recessive woolly hair.
23 citations
,
August 2018 in “Biochimica and biophysica acta. Molecular and cell biology of lipids” Different sPLA2 enzymes affect immunity, skin and hair health, reproduction, and may be potential targets for therapy.
157 citations
,
October 2002 in “Journal of Cutaneous Pathology” p63 may influence skin cancer development and cell differentiation.
11 citations
,
December 2017 in “Orphanet Journal of Rare Diseases” A new mutation in the ST14 gene broadens the understanding of ichthyosis-hypotrichosis syndrome.
28 citations
,
January 2015 in “Journal of Cell Science” PINCH-1 is crucial for skin cell adhesion and movement, working with EPLIN and ILK.
Plakophilin 1 helps control skin cell immune responses to prevent excessive inflammation.
1 citations
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April 2018 in “Journal of Investigative Dermatology” PRC1 is essential for proper skin development and stem cell formation by controlling gene activity.
January 2026 in “Therapeutics” SCUBE3 is a potential target for cancer and alopecia treatment but is challenging to target due to its varied roles.
May 2023 in “Pharmaceuticals” Three specific mutations in the LIPH gene can cause hair loss by damaging the protein's structure and function.
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.
April 2023 in “Journal of Investigative Dermatology” POUF51 and HES3 are key in controlling stem cell numbers in psoriasis.
24 citations
,
February 2011 in “The American journal of pathology” AIRE protein, defective in APECED patients, is found in skin and hair cells and interacts with cytokeratin 17.
November 2022 in “Journal of Investigative Dermatology” NCSTN gene mutation causes abnormal skin cell differentiation and more inflammation, contributing to Hidradenitis Suppurativa.