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July 2021 in “American Journal of Medical Genetics Part A” Mutations in the LSS gene cause hair loss and may affect brain development, with varying severity.
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December 2019 in “Frontiers in immunology” A new mutation in the STING protein causes a range of symptoms and its severity may be affected by other genetic variations; treatment with a specific inhibitor showed improvement in one patient.
January 2008 in “Memorial University Research Repository (Memorial University)” Pygopus 2 helps ovarian cancer cells grow by aiding ribosomal RNA production, independent of Wnt signaling.
June 2025 in “bioRxiv (Cold Spring Harbor Laboratory)” In alopecia areata, certain immune cells increase and express a protein linked to immune activation.
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January 2006 in “The journal of investigative dermatology/Journal of investigative dermatology” Mutations in the DSG4 gene can cause a rare hair disorder similar to monilethrix.
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May 2020 in “Life science alliance” Removing integrin α3β1 from hair stem cells lowers skin tumor growth by affecting CCN2 protein levels.
January 2022 in “Journal of Biomedical Research & Environmental Sciences” Certain gene variations may increase the risk of PCOS in South Indian women.
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June 2024 in “Parasites & Vectors” Chronic T. gondii infection may harm male fertility.
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July 2021 in “Frontiers in Genetics” A gene variant causes a skin and hair disorder by disrupting protein balance.
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August 2014 in “Biochemical and Biophysical Research Communications” ODC overexpression in hair cells increases tumor growth by reducing Notch signaling.
January 2017 in “Murdoch Research Repository (Murdoch University)” A new genetic variant in the EEF2K gene may contribute to polycystic ovary syndrome.
February 2024 in “bioRxiv (Cold Spring Harbor Laboratory)” Tandem repeats significantly influence hair color, especially darker shades, across different ancestries.
July 2025 in “Journal of Investigative Dermatology” Tissue-engineered skin substitutes can model junctional epidermolysis bullosa and may help develop gene therapy.
January 2021 in “Research Square (Research Square)” STAT3 reduces FST gene activity and cell growth, affecting hair development and wool quality.
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February 2023 in “International Journal of Stem Cells” The FTO gene hinders stem cells in hair follicles from becoming pigment cells.
14 citations
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March 2015 in “Stem Cell Research & Therapy” ABCG2 protein marks stem-like skin cells in human epidermis.
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July 2014 in “Gene” The S250C variant in a gene may cause autoimmunity and immunodeficiency by impairing protein function.
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March 2013 in “The American journal of dermatopathology/American journal of dermatopathology” Birt–Hogg–Dubé Syndrome requires genetic testing for accurate diagnosis due to its similarities with tuberous sclerosis.
February 2024 in “Planta” TRM21 helps control flavonoid production and root hair growth in Arabidopsis thaliana.
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July 2015 in “Archives of Dermatological Research” A new gene variant in the DSP gene is linked to a unique type of hair loss.
January 2013 in “International Journal of Trichology” Early diagnosis and a multidisciplinary approach are crucial for children with Trichothiodystrophy and hidden learning disorders.
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January 2003 in “Journal of Investigative Dermatology” Thrombospondin-1 is crucial for hair follicle regression and reduced blood vessel growth during the catagen phase.
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May 2025 in “Cell Death and Disease” Targeting METTL1 may help slow papillary thyroid cancer growth and spread.
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