January 2024 in “Wiadomości Lekarskie” Low-penetration genes might help personalize colorectal cancer prevention.
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October 1997 in “Nature” 55 citations
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November 2010 in “Journal of Allergy and Clinical Immunology” The L412F variant of TLR3 is linked to skin infections, more viral infections, and autoimmune issues.
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June 1999 in “Oncogene”
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June 2018 in “Scientific reports” Researchers found 15 new genetic links to skin traits in Japanese women.
July 2017 in “Cancer Research” Krt15+ cells in mice can resist radiation, regenerate tissue, and start tumors, suggesting new cancer treatment targets.
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November 2019 in “Cell calcium” The STIM1 R304W mutation in mice leads to bone changes and teeth hair growth.
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June 2023 in “Modern Pathology” GLI1 RNA CISH effectively identifies basal cell carcinoma but is less specific for benign follicular tumors.
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December 2021 in “Frontiers in endocrinology” A new mutation in the DCAF17 gene was found in a Chinese family, causing Woodhouse-Sakati syndrome and diabetes.
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September 2013 in “Breast cancer research” A specific gene variant is linked to a higher risk of hair loss from chemotherapy in breast cancer patients.
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December 2011 in “The journal of investigative dermatology/Journal of investigative dermatology” Deleting MED1 in skin cells causes hair loss and skin changes.
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May 2013 in “Hair transplant forum international” Non-classical 21 hydroxylase deficiency is an underdiagnosed cause of female hair loss and polycystic ovarian syndrome.
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September 2021 in “American Journal of Medical Genetics Part A” Woodhouse-Sakati syndrome shows varied symptoms, including hair loss and diabetes, and is common in Qatar due to a specific genetic variant.
December 2025 in “Biomolecules” Compound 7p shows strong potential as an anticancer agent.
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April 2012 in “Bioinformation” Two specific SNPs in the TRPS1 gene cause excessive hair growth by altering the protein's structure.
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March 2024 in “Non-coding RNA Research” DNA methylation of miR-365-1 causes hair follicle stem cell death by affecting DAP3.
September 2023 in “Journal of the American Academy of Dermatology” Children with alopecia areata, especially with Down syndrome or thyroid issues, should be screened for thyroid disease.
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July 2023 in “Communications biology” Removing Mediator 1 from certain mouse cells causes teeth to grow hair instead of enamel.
January 2023 in “Indian dermatology online journal” A child with ectodermal dysplasia-syndactyly syndrome has a new mutation in the NECTIN4 gene.
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May 2022 in “Cancers” UC.145 may be a new biomarker for predicting gastric cancer.
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September 2022 in “Journal of Clinical Investigation” Replacing defective mesenchymal cells with normal ones fixes thymic growth issues in 22q11.2DS mouse models.
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August 2023 in “Nature communications” Hdac1 and Hdac2 help maintain and protect the cells that control hair growth.
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September 2022 in “Indian Journal of Paediatric Dermatology” Clouston syndrome is inherited in an autosomal dominant pattern and caused by a specific gene mutation, with no current treatment available.
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August 2022 in “World Journal of Clinical Cases” Albumin and prednisone improved symptoms in a woman with Cronkhite-Canada syndrome, revealing potential genetic causes.
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November 2009 in “Archives of Dermatology” CYLD mutations cause a variety of skin tumors with symptoms starting around age 16, and treatments are currently limited.
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July 2017 in “Molecular diagnosis & therapy” MicroRNA-21 could help diagnose and treat skin fibrosis.