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March 2023 in “Science Translational Medicine” Blocking a certain signal in the gp130 receptor can improve tissue healing and lessen osteoarthritis symptoms.
January 2000 in “The Mouseion at the JAXlibrary (Jackson Laboratory)” The lanceolate hair-J mutation in mice helps understand human hair disorders like Netherton's syndrome.
March 2011 in “Open Archive (Karolinska Institutet)” The mouse model showed defects in adult stem cell maintenance related to Hutchinson-Gilford progeria syndrome.
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February 2025 in “Poultry Science” TBX5 gene influences feathered feet in Guangxi chickens by affecting cell growth and movement.
August 2024 in “Veterinary Dermatology” Topical ceramide treatment partially improves the skin condition in Jack Russell Terriers with a genetic skin disorder.
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September 2023 in “Science” BTNL proteins help control inflammatory bowel disease by maintaining specific immune cells.
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January 1995 in “European Journal of Neuroscience” Glycine is a key transmitter in rat spinal cord synapses, often alongside GABA.
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July 2025 in “Journal of Investigative Dermatology” January 2004 in “uO Research (University of Ottawa)” Claudin 6 is crucial for normal skin and hair development.
June 2023 in “GSC Advanced Research and Reviews” Hutchinson-Gilford Progeria Syndrome causes rapid aging from a genetic mutation, with no cure but ongoing research into potential treatments.
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June 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” GTL1 is needed to control root hair growth and prevent problems when there are too many nutrients.
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May 2013 in “International Journal of Molecular Medicine” Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.
January 2026 in “Biochemical Pharmacology” 29 citations
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June 2010 in “The Journal of Dermatology” Infants with severe KID syndrome may be more prone to serious infections and need close monitoring.
April 2019 in “Journal of Investigative Dermatology” BRG1 is essential for skin cells to move and heal wounds properly.
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May 2022 in “International journal of molecular sciences” Faulty LEF1 activation causes faster skin cell differentiation in premature aging syndrome.
March 2026 in “Animal Models and Experimental Medicine” Gorab deficiency speeds up skin aging by disrupting protein regulation and reducing collagen.
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January 2017 in “BMC Medical Genetics” A new CDH3 gene mutation was found in a Spanish patient with sparse hair and eye issues.
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January 2000 in “Journal of Toxicologic Pathology” A single recessive gene causes sparse hair in certain Japanese White rabbits.
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February 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” Impaired LEF1 activation speeds up skin cell development in Hutchinson-Gilford Progeria Syndrome.
December 2021 in “OPAL (Open@LaTrobe) (La Trobe University)” BBS7 is crucial for maintaining healthy periodontal ligaments by supporting Shh signaling.
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October 2023 in “Heliyon” An infant with Hutchinson-Gilford Progeria Syndrome had successful surgery to fix breathing issues caused by a new genetic mutation.
January 2025 in “Repository of Digital Objects for Teaching Research and Culture (University of Valencia)” Non-coding RNAs may be key in diagnosing and treating rare skin disorders.
January 2012 in “Journal of Investigative Dermatology” Some Greek melanoma patients have gene mutations linked to increased cancer risk, a new color feature helps diagnose melanoma, the incidence of a skin condition in the Netherlands is rare, and a gene possibly affects male-pattern baldness.
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November 2018 in “Cell reports” The study concluded that specific proteins are necessary to maintain the structure that holds epithelial cells tightly together.
April 2019 in “Journal of Investigative Dermatology” Non-coding RNA boosts retinoic acid production and signaling, aiding regeneration.
A genetic mutation in the CDH3 gene causes hair loss and vision problems in a young Saudi girl.
August 2019 in “Journal of Investigative Dermatology” The study found that tight junctions reach the top layer of the skin's stratum granulosum, not just the second top layer as previously thought.
The microenvironment affects the behavior and survival of melanocytes with the GNAQ oncogene in melanoma.
June 2023 in “Journal of biological chemistry/The Journal of biological chemistry” Sdr16c5 and Sdr16c6 genes regulate a key point in lipid production that affects eye and skin gland function.