39 citations
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September 2018 in “American Journal of Medical Genetics Part A” A new genetic mutation in the ODC1 gene causes developmental delay and other symptoms in a young girl.
17 citations
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September 2018 in “Matrix Biology” Laminin-511 is essential for proper melanocyte movement and development in mice.
9 citations
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July 2007 in “Journal of Investigative Dermatology” Claudin expression changes help the skin respond to injury.
May 2018 in “The Journal of Immunology” A(1-7) treatment reduces symptoms of lupus in mice.
13 citations
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November 2012 in “PLoS ONE” A gene mutation in mice causes severe skin disorder similar to a human condition.
January 2025 in “Analytical Methods” A new fluorescent material can detect dextran sulfate sodium, turning green when present, useful for forensic and environmental monitoring.
June 2023 in “British journal of dermatology/British journal of dermatology, Supplement” A child with skin and tooth symptoms was found to have a genetic mutation causing cardiocutaneous syndrome, leading to heart problems.
8 citations
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June 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” A boy's skin fragility and sparse hair were caused by a genetic mutation affecting skin cell adhesion.
1 citations
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January 2023 in “Pediatric Dermatology” Early diagnosis and teamwork are crucial for managing ILVASC effectively.
119 citations
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August 2010 in “Journal of Investigative Dermatology” Increased 11β-HSD1 activity in skin may contribute to aging and could be targeted to reduce aging effects.
11 citations
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February 2011 in “International Journal of Molecular Sciences” Different sPLA2 enzymes have unique roles in phospholipid metabolism and biological processes.
Mechanical stress causes ligament thickening through WISP-1 and Hedgehog signaling.
July 2025 in “Human Genomics” New LSS gene variants help understand congenital hypotrichosis 14 better.
3 citations
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December 2017 in “Clinical and Experimental Dermatology” Reversible hair loss in a ring pattern on the scalp may be linked to changes in leptin levels in fat tissue.
Lhx2 is a crucial regulator of the Sonic Hedgehog signaling in early mouse retinal development.
October 2023 in “Pediatric blood & cancer” Thymic LCH may be underdiagnosed, so thymic ultrasound should be considered in infants with cutaneous LCH.
83 citations
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October 2012 in “International Journal of Oncology” Wedelolactone selectively kills prostate cancer cells without harming normal cells.
1 citations
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May 2022 in “International journal of molecular sciences” Faulty LEF1 activation causes faster skin cell differentiation in premature aging syndrome.
June 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” Scientists created cell lines to study a genetic skin disorder using CRISPR technology.
29 citations
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December 2004 in “Developmental biology” cDermo-1 causes dense skin, feathers, and scales in chickens.
August 2013 in “Gastroenterology” A 60-year-old man with Cronkhite-Canada syndrome improved with treatment, but the condition has a high mortality rate and a risk of colorectal cancer.
November 2016 in “The Molecular Biology Society of Japan” July 2024 in “Journal of Investigative Dermatology”
291 citations
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April 2010 in “Gastroenterology” Certain proteins, Lgr5 and Lgr6, are important markers of adult stem cells and are involved in tissue repair and cancer development.
232 citations
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January 2002 in “Mechanisms of development” Different enzymes are active in different parts of developing mouse organs.
18 citations
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January 2018 in “BMC dermatology” A new mutation in the PLEC gene causes a rare condition with skin blistering, muscle weakness, and hair loss.
September 2025 in “Journal of Investigative Dermatology” SLC3A2 is crucial for hair follicle stem cell function and hair growth.
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.
November 2022 in “Journal of Investigative Dermatology” Aging in one type of stem cell can cause aging-like changes in various organs.
January 2024 in “Circulation” Certain genetic mutations can lower bad cholesterol and reduce heart disease risk, leading to effective cholesterol-lowering drugs.