22 citations
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April 2012 in “The American journal of pathology” Loss of Msx2 function causes eye development issues similar to Peters anomaly.
36 citations
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January 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” The document concludes that understanding genetic mutations in the PI3K-AKT-mTOR pathway can lead to better diagnosis and treatment for certain genetic skin disorders.
April 2024 in “Journal of Cytology” A rare skin tumor with bone formation was successfully removed without recurrence.
39 citations
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September 2018 in “American Journal of Medical Genetics Part A” A new genetic mutation in the ODC1 gene causes developmental delay and other symptoms in a young girl.
43 citations
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January 2016 in “Development” LHX2 is essential for hair follicle development, controlled by NF-κB and TGFβ2 signaling.
May 2024 in “Scientific reports” Twist2 is essential for scarless skin healing and hair growth in mouse fetuses.
Deleting Twist1 in skin cells reduces UVB-induced skin cancer risk.
April 2023 in “Journal of Investigative Dermatology” Higher PD-1 levels are linked to fewer immune cells in hair follicles in alopecia areata.
124 citations
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April 2000 in “Nature biotechnology”
218 citations
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October 2013 in “Proceedings of the National Academy of Sciences of the United States of America” Mice lacking the PPARγ gene in their fat cells had almost no fat tissue, severe metabolic problems, and abnormal development of other fat-related tissues.
150 citations
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June 1999 in “Oncogene”
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” Activating mitophagy may help manage a key immune response involved in the hair loss condition alopecia areata.
October 2023 in “Journal of the Endocrine Society” A woman's increased facial hair and hair loss were caused by a rare ovarian tumor, cured by surgery.
2 citations
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June 1980 in “International Journal of Dermatology” Scalp biopsies are important for diagnosing hair loss conditions.
January 2025 in “Open Life Sciences” Overexpression of the HE4 gene in mice causes eye inflammation and cloudiness.
29 citations
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February 2013 in “Proceedings of the National Academy of Sciences of the United States of America” Loss of Fz6 disrupts hair follicle and associated structures' orientation.
5 citations
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July 1999 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” Proteolytic enzymes damage hair follicles by detaching stem cells.
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June 2014 in “مجلة مركز بحوث التقنيات الاحيائية” Five different TPO gene mutations were found in PCOS patients with thyroid hormone issues.
1 citations
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July 2024 in “Indian Journal of Case Reports” GAPO syndrome causes growth issues, hair loss, missing teeth, and vision problems.
6 citations
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January 2020 in “International Journal of Biological Sciences” Septin4 helps kill colon cancer cells by working with the protein BAX.
3 citations
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May 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” The unique coat of lykoi cats is likely caused by new variants in the Hairless gene.
November 2022 in “Journal of Investigative Dermatology” Scientists found a new type of skin cell that could help with skin repair and these cells work better with a certain protein.
5 citations
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February 2014 in “PloS one” Eyelid cells share signaling components but differ in pathway activity.
January 2018 in “Springer eBooks” Telogen effluvium is hair loss caused by disruption of the normal hair cycle.
72 citations
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July 2012 in “Journal of Investigative Dermatology” Mice lacking a key DNA methylation enzyme in skin cells have a lower chance of activating stem cells necessary for hair growth, leading to progressive hair loss.
February 2024 in “Journal of medical science and clinical research” Radiotherapy effectively treated a large scalp tumor in an elderly woman, avoiding surgery.
58 citations
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January 2006 in “Skin Pharmacology and Physiology” High levels of testosterone and 5α-DHT can lead to cell death in cells important for hair growth.
88 citations
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August 1998 in “Carcinogenesis” High levels of ODC and a mutant Ha-ras gene cause tumors in mice.
Activating certain hair follicle cells could prevent hair loss from cancer treatments.
January 2019 in “Skin appendage disorders” A woman's hair loss was linked to a rare hormone-secreting ovarian tumor, treated with surgery and hair loss medication.