December 2023 in “JCEM case reports” A new gene variant causes glucocorticoid resistance in a mother and son.
11 citations
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May 2011 in “The Journal of Dermatology” A man had two rare autoimmune diseases that might be connected.
5 citations
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July 2017 in “International journal of endocrinology and metabolism/International journal of endocrinology and metabolism.” Two siblings with a genetic mutation had a form of rickets that doesn't respond to vitamin D.
9 citations
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December 2018 in “JAAD case reports” Lipedematous alopecia involves a thickened scalp and hair loss, with limited effective treatments available.
32 citations
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May 2018 in “The Plant Cell” ERULUS is crucial for root hair growth by controlling calcium levels.
3 citations
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August 2024 in “Molecular Biology Reports” LncRNA018392 helps goat skin cells grow by increasing CSF1R.
1 citations
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January 2025 in “Frontiers in Oncology” REV7 is crucial for genome stability and cancer treatment, making it a potential target for therapy.
CRISPR gene editing reduces harmful molecules in cells from Emery–Dreifuss Muscular Dystrophy patients.
Newly designed proteins can effectively degrade specific proteins in cells, offering a promising alternative for targeted protein degradation.
Autoimmune Polyendocrine Syndromes involve specific combinations of autoimmune diseases.
75 citations
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January 2004 in “Molecular and Cellular Biology” XEDAR deficiency prevents muscle degeneration in EDA-A2 transgenic mice.
14 citations
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February 1991 in “FEBS Letters” Introducing the rat OTC gene partially corrected OTC deficiency in mice.
33 citations
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August 1993 in “FEBS Letters” A new enzyme in rats may help regulate hair growth.
33 citations
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October 2006 in “European Journal of Immunology” The CD44-CD49d complex boosts T cell activation and survival in autoimmune disease.
126 citations
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October 1998 in “Experimental Dermatology” The hr gene is crucial for skin and hair health, with mutations causing hair disorders.
23 citations
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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.
46 citations
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December 1992 in “The Journal of Steroid Biochemistry and Molecular Biology” Affected males are born with ambiguous genitalia, raised as females, but develop male traits at puberty due to enzyme deficiency.
The vitamin D receptor has many roles in the body beyond managing calcium, affecting the immune system, hair growth, muscles, fat, bone marrow, and cancer cells.
April 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” Laminin-511 is involved in psoriasis development and can be regulated by cannabinoid receptor type 1.
53 citations
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April 2016 in “Stem cell research & therapy” LL-37 helps stem cells grow and move, aiding tissue regeneration and hair growth.
64 citations
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August 2014 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” A deficiency in the TTC7A gene causes immune problems, gut issues, and hair loss.
April 2025 in “Journal of Investigative Dermatology” High LH levels cause hair loss by damaging and aging hair follicles.
11 citations
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March 2020 in “Cellular Signalling” XIST RNA helps regenerate hair follicles by targeting miR-424 and activating hedgehog signaling.
2 citations
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October 2024 in “Phenomics”
3 citations
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January 1992 in “Clinical Pediatric Endocrinology” Patients with the same vitamin D receptor mutation showed different symptoms due to other factors.
November 2024 in “JAAD Case Reports” A 21-month-old boy has a rare genetic disorder causing sparse hair due to an LSS gene mutation.
April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” Double stranded RNA helps skin wounds heal by coordinating specific proteins and signaling pathways.
April 2016 in “Journal of The American Academy of Dermatology” Lichen planus may be associated with a higher risk of metabolic syndrome.
January 2025 in “SSRN Electronic Journal”
12 citations
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January 2010 in “Acta Dermato Venereologica” Women with early onset androgenetic alopecia have worse lipid profiles.