47 citations
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February 1998 in “Journal of bone and mineral research” A specific gene mutation causes vitamin D-resistant rickets and hair loss.
82 citations
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March 2013 in “PLoS ONE” Vemurafenib causes skin side effects similar to RASopathies, requiring regular skin checks and UVA protection.
December 2023 in “American journal of medical genetics. Part A” A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.
48 citations
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March 2007 in “The journal of investigative dermatology/Journal of investigative dermatology” Retinoic acid production and signaling in hair follicles are regulated by location and timing, affecting hair growth and cycling.
512 citations
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February 2008 in “Science” Reactive oxygen species and calcium create a feedback loop that shapes root hair cells.
32 citations
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January 2000 in “Human Heredity” Monilethrix severity varies and may be influenced by other genetic or environmental factors.
10 citations
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December 1999 in “Journal of The American Academy of Dermatology” The technique of using a skin and hair graft from behind the ear successfully reconstructed a large eyebrow defect with good cosmetic results.
January 2026 in “Clinical Case Reports” A 6-year-old girl had both monilethrix and trichorrhexis nodosa, causing brittle hair, with minimal improvement from treatment.
1 citations
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May 2025 in “Cell Reports Medicine” RSPO1 could help create new diabetes treatments by increasing pancreatic β cells.
November 2024 in “Journal of Cosmetic Dermatology” MSC exosome therapy improved hair quality in patients with acquired trichorrhexis nodosa.
September 2016 in “Journal of Dermatological Science” A specific mutation known for causing cancer is also found to cause a skin condition in a young girl.
4 citations
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January 2001 in “Archives of Biochemistry and Biophysics” Activated ras can protect kidney cells from a certain substance that causes cell death.
30 citations
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June 2016 in “Journal of Human Genetics” Researchers found genetic mutations causing hypohidrotic ectodermal dysplasia in 88% of studied patients and identified new mutations and genetic variations affecting the disease.
18 citations
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November 2005 in “Archives of Dermatological Research” 46 citations
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May 2013 in “The journal of investigative dermatology/Journal of investigative dermatology” Significant progress was made in understanding PXE, but effective treatments are still needed.
53 citations
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August 2019 in “American journal of human genetics” FOXN1 gene variants cause low T cells and immune issues from birth.
April 2016 in “Journal of Investigative Dermatology” Mefloquine, an antimalarial drug, is effective in killing melanoma cells resistant to other treatments by causing lethal stress in the cells.
3 citations
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January 2002 in “Actas Dermo-Sifiliográficas” Excessive minoxidil use can damage hair structure.
12 citations
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October 2017 in “Radiation Research” mTORC1 signaling needed for quick hair follicle recovery after radiation damage.
RNA-based treatments show promise for managing Hutchinson-Gilford Progeria Syndrome.
August 2022 in “Dermatologic Therapy” 3 citations
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August 2023 in “Journal of Investigative Dermatology” 133 citations
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June 2016 in “Nature Neuroscience” Zeb2 is crucial for nerve repair by controlling Schwann cell function.
44 citations
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January 2017 in “Journal of Investigative Dermatology” Mutations in the KLHL24 gene cause skin blistering in epidermolysis bullosa simplex.
26 citations
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April 2019 in “Genes” lncRNA XLOC_008679 and gene KRT35 affect cashmere fineness in goats.
April 2023 in “Journal of Investigative Dermatology” SOX2 helps reduce wound size and pressure ulcer formation by suppressing oxidative stress and increasing antioxidant activity in mice.
25 citations
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March 2017 in “International Journal of Dermatology” Ruxolitinib effectively and safely regrows hair in alopecia patients.
24 citations
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July 1994 in “Molecular Endocrinology” Researchers found an RNA transcript that might help control a growth factor linked to tumor development.
September 2023 in “Journal of the American Academy of Dermatology” November 2024 in “Journal of Investigative Dermatology” Aptamers can improve wound healing and promote hair growth.