A genetic mutation in the CDH3 gene causes hair loss and vision problems in a young Saudi girl.
November 2022 in “Journal of Investigative Dermatology” Scientists developed a new way to study mutations in a skin condition using blood cells, which may help diagnose and treat the disease.
December 2018 in “Dermatologic Surgery”
December 2022 in “American journal of medical genetics. Part A” A person got uncombable hair syndrome from two copies of chromosome 1 from their mother.
June 2025 in “Neurology India” Anti-SRP myopathy can be linked to systemic lupus erythematosus and may improve with specific treatment.
6 citations
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January 2004 in “DNA Research” A mutation in the Sgkl gene causes defective hair growth in mice.
2 citations
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November 2024 in “PLoS ONE” Genomic prediction can improve breeding strategies for Korean Sapsaree dogs.
March 2025 in “OncoTargets and Therapy” A specific genetic trait in tumor cells is linked to longer survival without disease in certain lymphoma patients.
1 citations
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September 2013 in “The Journal of Dermatology” An 8-year-old girl developed a rare skin condition in a linear pattern on one side of her body after a lung infection, which improved with treatment.
4 citations
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September 2024 in “Oncology Research Featuring Preclinical and Clinical Cancer Therapeutics” 3D models and organoids improve liposarcoma research and therapy development.
March 2011 in “Open Archive (Karolinska Institutet)” The mouse model showed defects in adult stem cell maintenance related to Hutchinson-Gilford progeria syndrome.
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” A new mutation in the STING protein causes a disease with lupus-like symptoms and responds well to a specific inhibitor treatment.
96 citations
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September 1996 in “PubMed” Desmocollin 1 and 3 have distinct patterns in human tissues, with Dsc1 in specific skin and hair layers and Dsc3 in various epithelial layers.
February 2026 in “Pediatric Dermatology”
76 citations
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June 2015 in “Journal of biomedical science” Mutations in Gasdermin A3 cause skin inflammation and hair loss by disrupting mitochondria.
33 citations
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October 2005 in “Journal of Investigative Dermatology” A specific gene mutation causes sparse, brittle hair in a family.
April 2025 in “Journal of Biophotonics” PBM therapy improves mitochondrial function and promotes tissue regeneration in dental pulp stem cells.
18 citations
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December 2002 in “European Journal of Biochemistry” MsPG3 protein gathers at root hair tips, aiding growth.
July 2025 in “Journal of Investigative Dermatology” AMP-303 safely increases hair growth in men with hair loss.
2 citations
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January 2022 in “The Application of Clinical Genetics” A young Russian girl with Meier-Gorlin syndrome has two new mutations in the CDC6 gene.
April 2019 in “Journal of Investigative Dermatology” DPP4-positive fibroblasts play a major role in producing proteins that lead to skin fibrosis.
15 citations
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June 2019 in “Biochemical Journal” A new genetic disorder caused by an ODC1 mutation can be treated with DFMO.
14 citations
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April 2008 in “PROTEOMICS” Increased 14-3-3 proteins may block hair cycle regression, causing hair loss.
24 citations
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September 2023 in “Science Advances” Mettl3 is essential for normal tissue development and self-renewal by regulating gene expression.
3 citations
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December 2016 in “Universal journal of pharmaceutical research” Finasteride, a drug used for anti-hyperplasia, can be effectively delivered in the form of matrix tablets.
4 citations
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September 2010 in “Journal of Dermatological Science” A new gene location for Keratosis follicularis squamosa was found on chromosome 7p14.3-7p12.1.
15 citations
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November 2012 in “Archives of Ophthalmology” A deletion in the CDH3 gene causes a rare disorder with short hair and vision loss.
81 citations
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March 2006 in “Journal of Investigative Dermatology” Mutations in the DSG4 gene cause specific hair and scalp issues.
November 2022 in “Journal of the Endocrine Society” A boy with a new NR5A1 gene mutation has a sex development disorder without affecting his adrenal glands.
February 2024 in “Research Square (Research Square)” The research suggests that SFRP2 and PTGDS proteins might be indicators of female pattern hair loss and could contribute to hair loss.