15 citations
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August 2022 in “The Application of Clinical Genetics” ABCD1 gene mutations cause adrenomyeloneuropathy, leading to symptoms like limb weakness and spasticity, with management focusing on rehabilitation and spasticity treatment.
48 citations
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October 2004 in “Molecular and Cellular Biology” Mice with a specific BRCA1 mutation have a higher risk of tumors, especially in the uterus and ovaries.
8 citations
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June 2012 in “PloS one” Mutations in Plcd1 and Plcd3 together cause severe hair loss in mice.
4 citations
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February 2001 in “PubMed” A medication called sodium valproate likely caused a girl's hair to become kinky and dry.
May 2024 in “JAMA Dermatology” Oral contraceptive use may increase the risk of frontal fibrosing alopecia in women with a specific CYP1B1 gene variant.
Loss of Dnmt3a and Dnmt3b increases aggressive skin tumors by affecting PPAR-γ.
109 citations
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June 2011 in “Molecular and Cellular Endocrinology” Vitamin D receptor mutations can cause alopecia by affecting hair growth genes.
125 citations
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August 2003 in “Development” Mice with human-like EGFR had growth issues, skin defects, heart problems, and unusual bone development.
10 citations
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September 1997 in “Molecular carcinogenesis” Mirex seems to promote a unique group of skin cells different from those affected by another tumor promoter, TPA.
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September 2015 in “Orphanet Journal of Rare Diseases” Revertant cell therapy could be a future treatment for Ichthyosis with confetti.
2 citations
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December 2024 The plant pathogen in Australia evolves through existing genetic variation, not new genotypes.
April 2024 in “bioRxiv (Cold Spring Harbor Laboratory)” Removing Sprouty genes in mice causes various hormone-related issues but does not increase cancer risk by one year of age.
January 2026 in “JDDG Journal der Deutschen Dermatologischen Gesellschaft” A 5-year-old boy has Nevus Comedonicus Syndrome, causing skin lesions and a cataract.
Deleting Smad4 and PTEN genes in mice causes rapid, invasive forestomach cancer.
10 citations
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October 2016 in “Monoclonal antibodies in immunodiagnosis and immunotherapy” Researchers created specific antibodies that detect a protein important in development and various conditions, and can be used for research and diagnosis.
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December 1998 in “British Journal of Cancer” Truncated hHb1 keratin may play a role in breast cancer cell transformation.
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December 2023 in “Frontiers in Behavioral Neuroscience” UVB exposure increases appetite by activating p53 in skin cells.
97 citations
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March 2006 in “Journal of Investigative Dermatology” Mutations in the DSG4 gene cause a severe form of brittle hair and skin issues.
March 2025 in “OncoTargets and Therapy” A specific genetic trait in tumor cells is linked to longer survival without disease in certain lymphoma patients.
15 citations
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August 2019 in “F1000Research” CMG2 and TEM8 receptors have distinct roles in skin and growth disorders, affecting collagen breakdown and growth.
4 citations
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February 2025 in “BMC Genomics” Black wool in Qira sheep is linked to specific gene mutations, especially in the TYRP1 gene.
September 2025 in “Indian Journal of Dermatology” A Turkish woman has a hair condition caused by a LIPH gene mutation.
June 2023 in “Medicine and Pharmacy Reports” A woman with a specific mutation causing adrenal gland issues faced fertility problems, but careful hormone therapy helped her manage it successfully.
3 citations
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May 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Skin lesions in Carney Complex are caused by a gene change in some skin cells that leads to increased pigmentation and may lead to tumors.
May 2022 in “The journal of immunology/The Journal of immunology” FOXN1 is crucial for thymus development and immune response in Xenopus laevis.
Newly designed proteins can effectively degrade specific proteins in cells, offering a potential new therapy method.
32 citations
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July 2018 in “FEBS letters” A specific protein complex increases the activity of a plant enzyme, but this action is not required for plant root hair growth.
1 citations
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August 2016 in “Dermatology - Open Journal” Mitochondria change shape to meet energy needs during cell movement.
July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Increasing type 17 collagen reduces aging signs in skin cells caused by UV light.