9 citations
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February 2018 in “The Journal of Dermatology” A new mutation in the LIPH gene was found to cause a rare hair disorder in a Japanese boy.
November 2022 in “Journal of the Endocrine Society” The patient likely has Chrousos syndrome, a rare condition causing insensitivity to glucocorticoids, requiring high-dose dexamethasone treatment.
January 1999 in “American Journal of Medical Genetics Part A” The report expanded knowledge of MBTPS1-related disorders by identifying new symptoms.
May 2024 in “International journal of medicine and psychology.” Monoclonal antibodies LT-1, LT-2, and LT-7 help diagnose certain blood cancers.
February 2022 in “Mediators of Inflammation” Women with Polycystic Ovary Syndrome (PCOS) have lower levels of a substance called DIAPH1 in their blood, which is linked to changes in sugar metabolism and insulin resistance.
1 citations
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May 2022 in “International journal of molecular sciences” Faulty LEF1 activation causes faster skin cell differentiation in premature aging syndrome.
September 2025 in “PeerJ” FCER1A and RGS1 may help diagnose and treat systemic lupus erythematosus.
August 2025 in “BMC Pharmacology and Toxicology” The LTF gene may help predict and manage nonspecific orbital inflammation.
January 2026 in “Figshare” ASLNC168501 may help restore hair growth in androgenetic alopecia by improving hair follicle stem cell function.
April 2018 in “Journal of Investigative Dermatology” Nonmelanoma skin cancers have higher levels of certain osteopontin variants than normal skin.
December 2025 in “International Journal of Surgery” GBP1 is a key target for treating Epstein-Barr virus-related kidney cancer, and finasteride may help.
April 2018 in “The journal of investigative dermatology/Journal of investigative dermatology” GATA6 is important for maintaining and differentiating cells in a key area of human skin.
21 citations
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January 2020 in “Brazilian Journal of Medical and Biological Research” H19 may help cause PCOS by affecting CTGF levels, suggesting a new treatment target.
3 citations
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May 2018 in “Reproductive Sciences” The drug BAY 1158061 is safe, well-tolerated, and shows potential for treating diseases related to prolactin.
April 2016 in “Journal of Investigative Dermatology” Lymphoid-specific helicase (Lsh) is crucial for skin growth, change, and healing after injury.
62 citations
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January 2009 in “Biochemistry” Vitamin D receptor binds similarly to natural and synthetic ligands, affecting gene regulation.
91 citations
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December 2017 in “Systems Biology in Reproductive Medicine” Lower SHBG levels may increase the risk of PCOS.
September 2008 in “Pediatric Rheumatology” Two children with lysinuric protein intolerance showed symptoms similar to lupus.
33 citations
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June 2007 in “Gene Expression Patterns” CTIP2 may help in skin development and maintenance.
12 citations
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May 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” Laminin 332 is essential for normal skin cell behavior and structure.
December 2012 in “Expert review of dermatology” New findings suggest the protein linked to Birt–Hogg–Dubé syndrome is important in cell signaling and could affect treatment understanding.
13 citations
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June 2018 in “Journal of histochemistry and cytochemistry/The journal of histochemistry and cytochemistry” Laminin-511 may contribute to psoriasis by affecting skin cell growth and survival.
July 2016 in “Experimental Dermatology” New treatments for hair growth and psoriasis may be possible, and gene differences could affect baldness and the severity of skin conditions.
January 2016 in “Institutional Repositories DataBase (IRDB)” Sebaceous glands help study fatty acid transporters and binding proteins.
14 citations
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March 2015 in “Stem Cell Research & Therapy” ABCG2 protein marks stem-like skin cells in human epidermis.
42 citations
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July 2007 in “Journal of Biological Chemistry” Most Hairless gene mutations reduce its ability to work with the Vitamin D Receptor, which might explain a certain type of hair loss.
260 citations
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July 2010 in “Cell” Mutations in the SRD5A3 gene cause a new type of glycosylation disorder by blocking the production of a molecule necessary for protein glycosylation.
January 2026 in “International Journal of Biological Macromolecules” 1 citations
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November 2024 in “Orphanet Journal of Rare Diseases” Changes in genes FGA, VWF, and ACTG1 may contribute to pemphigus vulgaris.
221 citations
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July 2012 in “Proceedings of the National Academy of Sciences of the United States of America” BMAL1 controls skin cell growth and UV damage risk, peaking at night.