105 citations
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February 1996 in “Journal of biological chemistry/The Journal of biological chemistry” The TGM3 gene's promoter region is key for skin and hair cell function and may aid gene therapy.
13 citations
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June 2024 in “Frontiers in Genetics” About 50% of 46, XY DSD cases lack a genetic diagnosis, but advanced sequencing methods improve detection.
June 2023 in “Journal of Biological Chemistry” Get3d protein helps maintain photosynthesis in plants and photosynthetic bacteria.
September 2023 in “Journal of the American Academy of Dermatology” Dermatologists should consider alpha-gal syndrome in patients with unexplained chronic skin issues.
23 citations
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June 2010 in “Journal of Investigative Dermatology” A mutation in the Soat1 gene causes hair structure defects and other health issues in AKR/J mice.
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 2012 in “Journal of Northwest A & F University” The Eda gene helps regulate the hair cycle in goats.
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.
Arabidopsis Formin 2 stabilizes actin filaments to aid cell-to-cell trafficking.
32 citations
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November 2020 in “UNC Libraries” A point mutation in the androgen receptor gene causes complete androgen insensitivity.
May 2025 in “Texas Digital Library (University of Texas)” Extracellular ATP promotes growth, while adenosine inhibits it in Arabidopsis plants.
November 2022 in “Journal of Investigative Dermatology” Cell-based therapy using specific immune cells may help treat alopecia areata by promoting hair regrowth.
9 citations
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October 2017 in “Frontiers in plant science” The peach gene CTG134 helps control the interaction between auxin and ethylene, which could lead to new agricultural chemicals.
November 2022 in “Journal of Investigative Dermatology” Dynlt3 is important for melanosome transport and skin coloration.
33 citations
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September 1990 in “Proceedings of the National Academy of Sciences” The study showed that a specific DNA sequence can control gene expression in hair growth areas of mice.
November 2025 in “The Journal of Immunology” BST2 is highly expressed in certain immune cells in alopecia areata, suggesting a role in the disease.
39 citations
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January 2019 in “Cells” Gene therapy has potential as a future treatment for Hutchinson-Gilford progeria syndrome.
33 citations
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October 2005 in “Journal of Investigative Dermatology” A specific gene mutation causes sparse, brittle hair in a family.
46 citations
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June 2013 in “Journal of structural biology” High glycine–tyrosine keratin-associated proteins help make hair strong and maintain its shape.
June 2003 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” GLABRA2 represses root hair formation by inhibiting a specific gene.
3 citations
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July 2022 in “Brain and Behavior” The HtrA1L364P mutation causes brain dysfunction and blood vessel damage.
Deleting the MAD2L1 gene is tolerated in certain mouse cancer models.
99 citations
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March 2013 in “Journal of Investigative Dermatology” Mutations in the ABCB6 gene cause Dyschromatosis Universalis Hereditaria.
14 citations
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October 2017 in “Gene Expression Patterns” A new mouse model helps study melanocyte cells using GFP expression.
39 citations
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January 2020 in “Frontiers in Genetics” PDGFC gene may help select goats with desirable curly wool traits.
3 citations
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August 2020 in “Cutaneous and Ocular Toxicology” ATP helps prevent skin damage from vandetanib by reducing stress.
60 citations
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September 2023 in “Science” BTNL proteins help control inflammatory bowel disease by maintaining specific immune cells.
5 citations
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February 1981 in “Experientia” A new gene causes hairlessness and skin cysts in rats.
5 citations
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June 2020 in “Medicine” A patient with a rare disease had a unique genetic mutation linked to their symptoms.
76 citations
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September 1992 in “Endocrinology” The human type II 5α-reductase gene has a specific structure important for understanding certain medical conditions.