The scant hair in snthr-1Bao mice is likely caused by a deletion affecting the Plcd1 gene.
2 citations
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April 2010 in “The Open Dermatology Journal” Corneodesmosin is essential for skin and hair health, and its dysfunction can lead to skin and hair disorders.
OCT4B1 and SOX-2 levels are higher in Crohn's and ulcerative colitis patients, possibly aiding tissue repair.
3 citations
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May 2024 in “BMC Medical Genomics” A new ARID1B gene variation causes Coffin-Siris syndrome 1 and early high myopia in a Chinese family.
October 2025 in “Cell Death and Disease” CD271 is crucial for maintaining healthy skin and preventing inflammation.
October 2025 in “Clinical and Experimental Pediatrics” A novel CLDN1 mutation in a 2-month-old with NISCH showed improvement with symptom management.
2 citations
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July 2024 in “International Journal of Molecular Sciences” Csdc2 helps hair growth in cashmere goats by regulating specific genes.
January 2011 in “Junshi yixue” A mouse model for studying scleroderma in chronic graft-versus-host disease was successfully created.
ETS2 is crucial in squamous cell carcinoma development and could be a therapeutic target.
ETS2 drives cancer progression in squamous cell carcinoma and is linked to poor patient outcomes.
89 citations
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March 1996 in “Proceedings of the National Academy of Sciences” CD18-deficient mice developed psoriasis-like skin disease, useful for studying inflammatory skin disorders.
12 citations
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November 2007 in “Journal of Investigative Dermatology” CD200 is not a reliable marker for identifying stem cells in all skin types.
July 2023 in “British journal of dermatology/British journal of dermatology, Supplement” Skin tumors with CYLD cutaneous syndrome show more NF-κB activity and less organized collagen.
November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Deleting the CD271 gene in mouse skin cells leads to disorganized skin and increased hair growth, suggesting CD271 is important for skin health.
4 citations
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December 2021 in “Journal of clinical laboratory analysis” A new mutation in the DCAF17 gene was found to cause Woodhouse-Sakati syndrome in a large family.
11 citations
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February 2018 in “Oncotarget” Lower SMAD2/3 activation predicts more severe skin cancer.
December 2010 in “OhioLink ETD Center (Ohio Library and Information Network)” Sry may regulate fatty acid metabolism and shows different expression levels in rat tissues.
December 2024 in “European journal of medical research” 10 citations
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November 2023 in “Science Immunology” Super-enhancers control CD25 expression in specific cell types, affecting immune function.
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.
8 citations
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August 2014 in “Biochemical and Biophysical Research Communications” ODC overexpression in hair cells increases tumor growth by reducing Notch signaling.
July 2024 in “Journal of Investigative Dermatology” CRISPR/Cas9 and prime editing can potentially fix skin disorder genes safely and effectively.
15 citations
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January 2013 in “European Journal of Pediatrics” Patients with Shwachman-Diamond syndrome often get misdiagnosed due to a wide range of symptoms, including immune system problems and bone abnormalities.
May 2024 in “British journal of dermatology/British journal of dermatology, Supplement” CYLD deficiency in skin tumors disrupts hair follicle cell processes and protein secretion.
May 2024 in “Animal genetics” A cat's poor wound healing was linked to a genetic deletion in the COL5A1 gene.
March 2026 in “Wound Repair and Regeneration” MARCKSL1 is important for wound healing and could be a target to reduce scarring.
5 citations
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January 2017 in “Arquivos Brasileiros de Oftalmologia” A rare genetic disorder causes sparse hair and vision loss due to a CDH3 gene mutation.
3 citations
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December 2021 in “Frontiers in endocrinology” A new mutation in the DCAF17 gene was found in a Chinese family, causing Woodhouse-Sakati syndrome and diabetes.
108 citations
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July 2002 in “Molecular and cellular biology” Overexpressing Dsg3 in mice skin causes excessive cell growth and abnormal skin development.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” DKK2 and SOSTDC1 together are necessary for the normal timing of the first regression phase in the hair growth cycle.