January 2025 in “Open Life Sciences” Overexpression of the HE4 gene in mice causes eye inflammation and cloudiness.
January 2018 in “VCU Scholars Compass (Virginia Commonwealth University)” Desmosomes are crucial for skin and heart development, and JNK may help regulate them.
28 citations
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October 1984 in “Journal of Investigative Dermatology” 37 citations
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February 2007 in “Experimental Dermatology” Increasing PDCD4 protein may help prevent or treat some skin cancers.
2 citations
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December 2016 in “Experimental cell research” The research found a way to identify and study skin cells with stem cell traits, revealing they behave differently in culture and questioning current stemness assessment methods.
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.
5 citations
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November 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” Wnt/β-catenin signaling is important for keeping skin cell attachment structures stable.
April 2018 in “Journal of Investigative Dermatology” DPP4 is important for scarring and skin regeneration, and managing its activity could improve skin healing treatments.
14 citations
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May 2017 in “Journal of Investigative Dermatology” A rare gene mutation causes skin fragility and itching without affecting hair or nails.
October 2020 in “Pediatrics in Review” The newborn was diagnosed with a rare skin disorder causing blisters, which requires careful wound care and family support.
25 citations
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November 2015 in “Journal of Dermatological Science” Sebum helps protect human skin from microbes.
September 2019 in “Journal of Investigative Dermatology” Scientists used stem cells to create a model of the skin disease Epidermolysis Bullosa simplex, which helped them understand its molecular mechanisms and could aid in finding treatments.
April 2023 in “Journal of Investigative Dermatology” MPZL3 protein helps control the size of oil glands and the growth of oil-producing cells in both mice and humans.
19 citations
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December 2015 in “European Journal of Human Genetics” A rare ITGB6 gene variant causes intellectual disability, hair loss, and dental issues.
10 citations
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March 2015 in “Journal of dermatology” The boy's severe skin disorder is caused by two new mutations in his TGM1 gene.
54 citations
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December 2011 in “American Journal Of Pathology” A Gsdma3 mutation causes hair loss due to stem cell damage from skin inflammation.
October 2021 in “Journal of Investigative Dermatology” DPP4, a molecule in skin, helps heal large wounds and regrow hair follicles when its levels are reduced.
April 2016 in “Journal of Investigative Dermatology” A peptide known for reducing wrinkles also effectively inhibits an enzyme linked to skin inflammation and acne.
April 2021 in “Journal of Investigative Dermatology” People with atopic dermatitis have more CD4+ T cells that respond to a certain bacterial lipid, which may play a role in the skin condition's inflammation.
2 citations
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August 2012 in “Journal of the American Academy of Dermatology” Two patients with the same genetic mutation had both blistering skin and easily pulled out hair.
April 2023 in “Journal of Investigative Dermatology” CD8+ T cells attack hair follicle stem cells, causing scarring and hair loss.
7 citations
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July 2016 in “Journal of Biomedical Materials Research Part A” cGEL hydrogel improves melanin production in skin cells, making it a promising option for skin treatments.
November 2025 in “Journal of Investigative Dermatology” KLHL24-mutant stem cells help understand skin and heart disease.
April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” Most patients experienced mild to moderate skin problems during a trial for a desmoid tumor treatment.
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.
193 citations
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June 1990 in “Journal of Investigative Dermatology” January 2026 in “Animal Genetics” A genetic variant in the GJB6 gene likely caused the Labrador's paw pad condition.
2 citations
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August 2016 in “Journal of Investigative Dermatology”
December 2023 in “The journal of cell biology/The Journal of cell biology” The mTurq2-Col4a1 mouse model shows how the basement membrane develops in live mammals.
39 citations
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January 2015 in “Annals of dermatology/Annals of Dermatology” Three new types of a skin blistering disease were found, caused by specific gene mutations.