A new mutation in the CYP11B1 gene was found in a woman with mild hyperandrogenemia, a rare cause of non-classic congenital adrenal hyperplasia.
May 2023 in “The Journal of Immunology” BST2 is a key marker for hair loss disease alopecia areata.
14 citations
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March 1995 in “Journal of cell science” SV40 T antigen in hair follicles causes abnormal hair and health issues in mice.
87 citations
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September 2019 in “Nature Communications” SOX11 and SOX4 help skin cells act like embryonic cells to heal wounds in mice.
April 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” 848 genes related to fat and metabolism are less active in people with Central Centrifugal Cicatricial Alopecia.
7 citations
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November 2007 in “Differentiation” The NF-κB effector p65/RelA activates hair keratin genes, aiding hair formation.
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” Tet1/2/3 enzymes affect hair follicle cell development by influencing BMP signaling.
2 citations
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October 2012 in “Experimental Dermatology” Deleting the Sox21 gene changes hair lipid composition and increases cholesterol sulfate levels.
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.
27 citations
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May 2011 in “Journal of Investigative Dermatology” TCHHL1 is a protein important for hair growth, found in hair follicles.
January 2013 in “China Animal Husbandry & Veterinary Medicine” IGFBP-5 likely plays a key role in goat hair growth.
May 2017 in “bioRxiv (Cold Spring Harbor Laboratory)” The peach gene pCTG134 helps control the interaction between auxin and ethylene hormones during fruit ripening.
38 citations
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January 2016 in “Cell Death and Disease” The TCL1 transgenic mouse model is useful for understanding human B-cell leukemia and testing new treatments.
NCBP3, SDHA, and PTPRA are the best genes for normalizing goat skin experiments.
38 citations
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February 1989 in “Journal of Investigative Dermatology” 20 citations
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December 1999 in “Journal of Investigative Dermatology” Mutations in the hHb6 gene cause the hair disorder monilethrix.
August 2011 in “Reproductive Toxicology” 36 citations
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September 1999 in “Journal of Cell Science” Basonuclin may help control ribosomal RNA gene activity in skin cells.
2 citations
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August 2020 in “CRC Press eBooks” Tabby mutations in mice affect hair follicle development and help study genetic mapping and certain medical conditions.
January 2023 in “International journal of biological sciences” COX2 and ATP synthase control the size of hedgehog spines.
38 citations
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February 1988 in “Molecular and Cellular Biology” Only one of the two K16 genes on chromosome 17 makes a functional protein for keratin filaments.
29 citations
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January 2021 in “Translational Psychiatry” The research suggests that Tourette syndrome is linked to both brain signaling and immune system pathways.
27 citations
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November 1991 in “Journal of Investigative Dermatology” 14 citations
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April 2024 in “The Journal of Steroid Biochemistry and Molecular Biology” 5α-reductases increase epitestosterone's effect on androgen receptors.
39 citations
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October 2012 in “Familial cancer” New therapies for Birt–Hogg–Dubé syndrome are being developed based on understanding the FLCN gene's role.
April 2018 in “Journal of Investigative Dermatology” STIM1 is essential for sweat secretion.
April 2017 in “Journal of Investigative Dermatology” A boy with Oculodentodigital syndrome had a unique GJA1 gene mutation causing his symptoms.
TBX3 gene affects horse coat color, with higher expression in darker areas.
9 citations
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May 2014 in “BMC medical genetics” A woman with a unique syndrome similar to TRPS has a genetic change near the TRPS1 gene, affecting its regulation.
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.