Finding functions for unknown GPCRs is hard but key for making new drugs.
March 2009 in “Prenatal Diagnosis” Pregnancies in a woman with the Donohue mutation were managed with genetic testing, resulting in three healthy infants.
January 2018 in “Elsevier eBooks” Progeria, a disease that causes early aging, is linked to a gene mutation and helps us understand normal aging.
41 citations
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June 2007 in “British Journal of Dermatology” Men with Kennedy disease have less chance of hair loss.
13 citations
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August 2020 in “Frontiers in Immunology” Gamma delta T cells in the skin help with healing and defense but can also cause autoimmune issues, and more research is needed to understand how they are activated.
11 citations
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November 2023 in “Journal of Functional Biomaterials” The ALGCS/GO30 scaffold effectively boosts mouse spermatogonial stem cell growth.
47 citations
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June 2013 in “Biology of blood and marrow transplantation” Mice with human fetal thymic tissue and stem cells developed symptoms similar to chronic graft-versus-host disease.
1 citations
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May 2018 in “Clinical chemistry” The girl's unexpected pubic hair growth led to a diagnosis different from complete androgen insensitivity syndrome.
2 citations
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July 2022 in “Frontiers in Veterinary Science” A female dog with mixed male and female traits was treated successfully with surgery.
13 citations
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March 1999 in “Biochemical Journal” Overexpressing SSAT in mice makes them highly sensitive to polyamine analogues, causing liver damage and high mortality.
January 2011 in “The Chinese Journal of Dermatovenereology” Shorter GGN repeats in the androgen receptor gene are linked to androgenetic alopecia.
October 2019 in “European heart journal” Androgen-deprivation therapies increase the risk of certain heart conditions, but testosterone treatment may help.
9 citations
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April 2022 in “Cell Communication and Signaling” High S100A4 levels worsen glioblastoma by promoting blood vessel growth.
30 citations
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September 2009 in “Seminars in Cutaneous Medicine and Surgery” Dermoscopy has greatly improved the diagnosis of skin lesions and our understanding of their morphology and biology.
2 citations
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March 2016 in “Serbian Journal of Dermatology and Venerology” A six-year-old boy with excessive hair growth and other symptoms may have a genetic link on chromosome 17q, requiring regular medical follow-ups.
January 2025 in “Clinical Case Reports” Timely and aggressive treatment is crucial for improving outcomes in severe complications of adult-onset Still's disease.
January 2019 in “Global Dermatology” Genetic hair shaft abnormalities can be seen with microscopes and often affect scalp hair.
9 citations
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November 2019 in “Cell calcium” The STIM1 R304W mutation in mice leads to bone changes and teeth hair growth.
October 2024 in “Journal of the Endocrine Society” Gender-affirming hormone therapy affects metabolism differently based on treatment type.
7 citations
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March 2023 in “Lasers in Surgery and Medicine” Ablative fractional laser treatment nearly matches the gene reduction effects of topical vismodegib in skin cancer.
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.
March 2024 in “Journal of Cosmetic Dermatology” Laser-pretreated blood for hair loss treatment was more effective and increased stem cells.
17 citations
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February 2020 in “Journal of Pediatric and Adolescent Gynecology” Early medical support for transgender youth is important for their health, with low regret for gender-affirming hormone use and a need for knowledgeable care providers.
June 2008 in “The Knowledge Bank (The Ohio State University)” Smad2 and Smad3 are essential for normal skin development, and their absence causes severe skin issues and cancer.
May 2024 in “Animal genetics” A cat's poor wound healing was linked to a genetic deletion in the COL5A1 gene.
4 citations
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August 2023 in “Journal of Cosmetic Dermatology” Gynostemma pentaphyllum extract may help grow hair and prevent graying.
November 2024 in “NeoReviews” Pallister-Killian Syndrome is a complex genetic disorder requiring coordinated care and genetic counseling.
11 citations
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November 2011 in “The Journal of Dermatology” Connexin-26 gene mutations may increase cancer risk in KID syndrome patients.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” Lack of TG2 increases fat storage and lowers cell cleanup in skin oil cells.