12 citations
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September 2017 in “JDR Clinical & Translational Research” Early detection of specific VDR mutations is crucial for effective treatment and better dental outcomes in children with hereditary vitamin D–resistant rickets.
1 citations
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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.
24 citations
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September 2018 in “Journal of Materials Science: Materials in Medicine” Hyaluronic acid-based HA2 hydrogel helps heal skin wounds better with less scarring.
1 citations
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August 2012 in “Journal der Deutschen Dermatologischen Gesellschaft” A woman's hyperandrogenism was caused by a genetic mutation leading to non-classic adrenogenital syndrome.
38 citations
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September 1997 in “The journal of investigative dermatology/Journal of investigative dermatology” A mutation in mice causes hair loss and skin issues due to a defect in a gene affecting cell adhesion.
115 citations
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March 2019 in “Nature Communications” Frontal fibrosing alopecia is linked to four genetic areas, especially the HLA-B*07:02 allele.
10 citations
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June 2011 in “Movement Disorders” THAP1 gene changes do not affect DYT1 dystonia; finasteride may help reduce tics and OCD in Tourette syndrome.
5 citations
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July 2014 in “Acta Crystallographica Section D-biological Crystallography” Mutations in the enzyme don't significantly change how it binds to its specific substances.
June 2005 in “Journal of Investigative Dermatology” A bull with a gene mutation was asymptomatic, synthetic retinoids cause hair loss, and new therapeutic targets were identified for skin diseases.
17 citations
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January 2011 in “Indian journal of dermatology, venereology, and leprology” A rare genetic skin condition usually affecting males was found in a 9-year-old girl.
4 citations
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January 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A faulty KLHL24 gene leads to hair loss by damaging hair follicle stem cells.
45 citations
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March 1997 in “Journal of Investigative Dermatology” 89 citations
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January 2020 in “PubMed” Early detection and biotin treatment improve outcomes for biotinidase deficiency.
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” New RIPK4 gene mutations were found to cause a type of skin and limb birth defect.
April 2023 in “Journal of Investigative Dermatology” Disrupting a specific protein's function in hair follicle stem cells triggers their activation and a self-healing process.
1 citations
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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.
83 citations
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May 2011 in “European Journal of Dermatology” Corneodesmosin is crucial for skin and hair health, and its dysfunction can cause skin and hair disorders.
1 citations
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October 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” Heat shock proteins help basal cell carcinoma grow by responding to inflammation signals.
5 citations
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June 2015 in “The Journal of Dermatology” HTLV-1-associated lichenoid dermatitis (HALD) is linked to an immune response against HTLV-1-infected cells.
23 citations
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November 2024 in “Nature”
10 citations
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November 2017 in “Journal of Investigative Dermatology” A mutation in the FAM83G gene is linked to skin and hair abnormalities in two related individuals.
140 citations
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October 2008 in “Nature Genetics” 11 citations
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November 2023 in “Journal of Advanced Research” Activating ALDH2 can boost hair growth.
August 2005 in “The Journal of Cell Biology” Sgk3 kinase is essential for normal hair growth in mice.
April 2017 in “Journal of Investigative Dermatology” HPH-15, a new compound, effectively reduces skin fibrosis in experiments without causing harm.
June 2023 in “British Journal of Dermatology” The protein called small nuclear ribonucleoprotein polypeptide E is identified as a cause of a type of hair loss without other symptoms.
20 citations
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February 2019 in “Genes” The study concludes that mutations in the AEBP1 gene can cause a form of Ehlers-Danlos syndrome and should be considered in diagnosis.
2 citations
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January 2021 in “American Journal of Case Reports” A 13-year-old boy with a rare genetic condition survived a heart attack and improved with treatment.
42 citations
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February 2019 in “Circulation” Targeting ATM could help manage heart cell enlargement due to pressure overload.
28 citations
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March 1993 in “Journal of Cell Science” Keratins K4 and K13 form stable dimers in mature esophageal cells, aiding cell stability.