February 2023 in “Benha Journal of Applied Sciences” R-Spondin-1 is important for skin health and could help diagnose and treat various skin conditions.
1 citations
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December 2018 in “Journal of genetic medicine” A small change in the TRPS1 gene leads to a less severe form of a syndrome affecting hair, nose, and finger development.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” Elf5 is important for skin stem cell growth and could help treat skin and hair problems.
75 citations
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July 2016 in “New phytologist” The protein RSL4 is crucial for making root hairs longer by controlling genes related to cell growth.
5 citations
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July 2022 in “Orphanet journal of rare diseases” RSPO1 mutations in certain patients lead to skin cells that don't develop properly and are more likely to become invasive, increasing the risk of skin cancer.
January 2026 in “British Journal of Dermatology” ELF5 is essential for skin cell growth and maintenance.
1 citations
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March 2023 in “Frontiers in Cardiovascular Medicine” A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.
124 citations
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September 1992 in “Endocrinology” The human type II 5α-reductase gene, linked to certain male health conditions, has a specific structure and low similarity to other related genes.
RXR and RAR proteins in skin may help with cell growth, hair growth, and gland function.
May 2018 in “The Journal of Immunology” A(1-7) treatment reduces symptoms of lupus in mice.
June 2023 in “British Journal of Dermatology” The prototype for analyzing skin aging works technically and clinically.
4 citations
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January 1996 in “PubMed” October 1984 in “Immunology Today” 39 citations
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July 1987 in “Journal of Investigative Dermatology”
June 2023 in “British journal of dermatology/British journal of dermatology, Supplement” A child with skin and tooth symptoms was found to have a genetic mutation causing cardiocutaneous syndrome, leading to heart problems.
September 2022 in “Annals of medicine and surgery” Three siblings with a rare genetic condition had abnormal sexual development and chose different gender identities, needing surgery and therapy.
7 citations
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June 2016 in “Bone Research” A Chinese family had a child with a specific gene mutation causing vitamin D-resistant rickets, but the child improved with calcium and low-dose calcitriol.
26 citations
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September 2009 in “Clinical genetics” Arab APS1 patients have unique and recurrent AIRE gene mutations.
11 citations
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March 2020 in “American Journal of Medical Genetics Part A” A mutation in the EDNRA gene causes Oro-Oto-Cardiac syndrome, affecting face and heart development.
6 citations
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November 2022 in “BMC Urology” Higher levels of miR-1199-5p may reduce the effectiveness of certain prostate treatments.
June 2020 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” Researchers found a specific T cell receptor linked to severe drug reactions like Stevens-Johnson syndrome when patients take carbamazepine.
July 2024 in “Journal of Investigative Dermatology” A new test helps find drugs to treat head and neck cancer by targeting c-Rel.
March 2026 in “Preprints.org” DRDE-07 shows promise for treating skin diseases due to its favorable properties.
12 citations
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January 1993 in “PubMed” February 2023 in “Default Digital Object Group” Finasteride, a medication, is being re-evaluated for its effects and uses.
4 citations
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January 2017 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” Two different mutations in the vitamin D receptor gene cause different symptoms and responses to treatment in Lebanese patients with hereditary rickets.
Blocking 5α-reductase can reduce sleep deprivation-related behavioral issues in rats.
July 2014 in “Urologia Journal” 5ARI treatment improves PSA test accuracy for prostate cancer diagnosis.
27 citations
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January 2017 in “Neuropsychopharmacology” The enzyme 5α-reductase is key in causing psychotic-like effects from sleep deprivation.