August 2022 in “Precision Clinical Medicine” JAM-A helps hair regrowth in alopecia areata by protecting VCAN in skin cells.
December 2023 in “American journal of medical genetics. Part A” A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.
11 citations
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December 2017 in “Orphanet Journal of Rare Diseases” A new mutation in the ST14 gene broadens the understanding of ichthyosis-hypotrichosis syndrome.
6 citations
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June 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” A mutation in the SREBF1 gene causes both hereditary mucoepithelial dysplasia and IFAP syndrome, which are related conditions.
1 citations
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July 1997 in “The Lancet” Scientists found a new protein, AMY117, common in Alzheimer's patients, which could be important for treatment and diagnosis.
161 citations
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June 1993 in “Journal of Biological Chemistry” Trichohyalin helps in hair and skin cell structure and function by binding calcium and linking proteins.
August 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” TAGX-0003 protected hair follicles and reversed alopecia areata in a mouse model.
16 citations
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June 2018 in “JAAD case reports” A JAK inhibitor improved both severe hair loss and chronic skin disease in one patient.
39 citations
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April 2019 in “The journal of immunology/The Journal of immunology” Malt1 protease is essential for regulatory T cell function and could be targeted to boost antitumor immunity.
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July 2008 in “Experimental Dermatology” The study concluded that a protein important for hair strength is regulated by certain molecular processes and is affected by growth phases.
September 2025 in “Science Advances” PADI4 enzyme slows down cell growth in developing hair follicles.
2 citations
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May 2017 in “Journal of the American Academy of Dermatology” Tofacitinib helped a 19-year-old regrow hair after other treatments failed.
477 citations
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March 2004 in “Proceedings of the National Academy of Sciences” The DMI3 gene is essential for nodule development and symbiosis in certain plants.
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January 2015 in “Biochemical Society Transactions” The Ysc84/SH3yl1 protein family is important for cell movement and the process of taking in materials by interacting with actin and cell membranes.
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January 2023 in “Journal of Clinical Investigation” Specific mutations in a receptor cause facial abnormalities and hair loss.
April 2017 in “Leukemia research” Tofacitinib helped most teenagers in the study regrow hair with mild side effects.
87 citations
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July 2018 in “Biochimica et Biophysica Acta (BBA) - Molecular Cell Research” Mice studies show that Protein Phosphatase 2A is crucial for cell growth, development, and disease prevention.
100 citations
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May 2006 in “American Journal Of Pathology” Matriptase is crucial for skin barrier, hair growth, and may contribute to skin cancer.
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August 2022 in “The Application of Clinical Genetics” ABCD1 gene mutations cause adrenomyeloneuropathy, leading to symptoms like limb weakness and spasticity, with management focusing on rehabilitation and spasticity treatment.
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December 2015 in “JAMA Dermatology” Tofacitinib citrate improved nail dystrophy and pain in patients with alopecia universalis without causing side effects.
43 citations
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May 1999 in “Journal of Biological Chemistry” Agouti protein affects melanocortin receptors through competitive antagonism and receptor down-regulation.
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September 2012 in “PloS one” Two distinct pathways direct proteins to vacuoles in Arabidopsis, affecting root hair growth and protein targeting.
The document describes a rare case of IFAP syndrome, a genetic condition with symptoms of hair loss, light sensitivity, and scaly skin.
6 citations
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June 2023 in “Experimental Dermatology” Targeting mitophagy may help treat alopecia areata by reducing inflammasome activation.
April 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” Machine learning can predict how well patients with alopecia areata will respond to certain treatments.
124 citations
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July 1997 in “Journal of Biological Chemistry” Overexpressing a specific enzyme in mice causes hair loss and female infertility.
July 2024 in “Journal of Investigative Dermatology” JAK inhibitors improve hair growth in alopecia areata, especially in patchy types.
47 citations
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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.
4 citations
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November 2024 in “Journal of Advanced Research” Targeting NMMHC IIA may help treat blood-brain barrier damage.
7 citations
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December 2023 in “International Journal of Molecular Sciences” Forsythiaside A helps protect cells and liver from damage by reducing oxidative stress and boosting antioxidants.