27 citations
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December 2005 in “Journal of Cutaneous Pathology” The malignant pilomatricoma showed strong epithelial keratin expression, suggesting it may not calcify.
July 2025 in “Scientific Reports” Six key genes can predict bladder cancer outcomes and may serve as prognostic biomarkers.
July 2012 in “European journal of cancer” MPA increases cancer spread by boosting Eph A2 activity.
39 citations
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December 2012 in “The American Journal of Human Genetics” Mutations in the SNRPE gene cause hereditary hair loss.
April 2024 in “Anais Brasileiros de Dermatologia” January 2017 in “Enlighten: Publications (The University of Glasgow)” Activating β-catenin and inactivating PTEN cause follicular tumors, not papillomas, similar to those in Cowden’s Disease.
2 citations
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October 2016 in “OPAL (Open@LaTrobe) (La Trobe University)” The Swedish neonatal screening program effectively detects PKU, galactosaemia, and biotinidase deficiency with low false positives.
6 citations
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January 2020 in “BMC Medical Genetics” A new mutation in the STS gene causes X-linked ichthyosis, even in rare female cases.
324 citations
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May 2002 in “Oncogene”
24 citations
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November 2008 in “Arquivos Brasileiros de Endocrinologia & Metabologia” Four patients with a type of rickets and hair loss had different mutations in their vitamin D receptor gene, causing it to not work properly.
October 2021 in “Experimental Dermatology” Certain genes and proteins may help diagnose and treat primary cicatricial alopecia.
184 citations
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September 2006 in “PLoS Genetics” The Apc gene is crucial for normal skin and thymus development.
November 2019 in “Harper's Textbook of Pediatric Dermatology” Mutations in keratin genes cause skin, hair, and nail disorders, with future treatments possible.
2 citations
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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.
January 2002 in “Linchuang pifuke zazhi” A young woman had a rare scalp tumor usually found in older women.
2 citations
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September 1998 in “Der Hautarzt” A gene mutation causes a rare hereditary hair loss, offering potential for new treatments.
November 2025 in “Archiv für Pathologische Anatomie und Physiologie und für Klinische Medicin” Sporadic trichoblastic neoplasms generally don't recur or spread, with one case showing a specific genetic fusion.
30 citations
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August 2021 in “Oncogene” miR-22 helps skin cancer grow and spread by activating specific cell signals.
8 citations
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April 2016 in “Experimental Dermatology” The type of tumor suppressor affects the form of skin cancer from hair follicle stem cells.
January 2024 in “Biomarker Insights” Certain genetic variants may increase the risk of developing PCOS.
December 2004 in “Annales d Urologie” Finasteride may reduce prostate cancer risk.
11 citations
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September 2024 in “Journal of Advanced Research” 3D-bioprinting models of pancreatic cancer could help personalize treatments but need more testing.
January 2022 in “Function” Studying rare genetic disorders can help us understand and treat common diseases better.
34 citations
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November 1998 in “Journal of Investigative Dermatology” A common mutation in the hHb6 gene is linked to monilethrix, but other factors may also play a role.
7 citations
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July 2020 in “Immunological Investigations” The rs231775 genetic variant is linked to a higher risk and severity of Alopecia Areata in males.
August 1994 in “Molecular Endocrinology” Changing protein kinase levels in pituitary cells affects calcium flow and beta-endorphin release.
3 citations
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October 2021 in “The Application of Clinical Genetics” Certain gene changes in osteopontin are linked to higher risk of atopic dermatitis and asthma.
January 2026 in “International Journal of Research and Innovation in Applied Science” Recognizing specific markers is crucial for correctly diagnosing and treating rare multifocal MPTT in males.
9 citations
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November 2012 in “Archives of Dermatological Research” MC4R gene variants not linked to female hair loss.
26 citations
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December 2003 in “Experimental Dermatology” Specific keratin gene mutations can cause monilethrix.