30 citations
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October 2014 in “PLOS ONE” BAF200 is essential for proper heart and coronary artery formation.
8 citations
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January 2009 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” A specific thyroid hormone resistance mutation may be linked to different types of hair loss.
September 2011 in “Chinese Journal of Dermatology” A man's skin condition was misdiagnosed and later identified as a rare type of skin cancer, which did not improve with treatment.
23 citations
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January 2012 in “International Food Research Journal” Tofacitinib effectively treated a woman's severe symptoms from a rare autoimmune condition.
3 citations
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January 1992 in “Clinical Pediatric Endocrinology” Patients with the same vitamin D receptor mutation showed different symptoms due to other factors.
October 2014 in “Cancer research” Blocking mTORC1 reduces skin tumor growth in mice.
July 2025 in “Scientific Reports” Six key genes can predict bladder cancer outcomes and may serve as prognostic biomarkers.
76 citations
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January 1998 in “Mammalian Genome” July 2005 in “The American Journal of Human Genetics” The AR gene is linked to male-pattern baldness, TNFSF4 to heart disease, SLC19A3 to BBGD, MCT8 to a syndrome, and segmental duplications to genetic variation.
Skin cells can naturally limit the growth of cancerous changes by balancing cell renewal and differentiation.
April 2017 in “Journal of Investigative Dermatology” Deleting Crif1 in mouse skin disrupts skin balance and hair growth.
29 citations
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July 2014 in “PloS one” Meis1 is crucial for skin health and tumor development.
April 2018 in “Journal of Investigative Dermatology” Screening for the NUDT15 gene variant can prevent severe side effects from thiopurine drugs in East-Asian people.
136 citations
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March 1998 in “Oncogene” Overexpression of E2F1 can lead to skin tumors and disrupt hair growth.
November 2018 in “Atlas of genetics and cytogenetics in oncology and haematology” WNT10B is linked to cancer development and affects survival and disease progression in various cancers.
8 citations
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March 2014 in “American Journal of Pathology” Damaged hair follicles make mice more prone to skin inflammation and skin cancer after UV exposure.
11 citations
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September 2010 in “American Journal of Medical Genetics - Part A” A Turkish family with sparse hair and eyebrow loss has a mutation in the U2HR gene linked to Marie Unna hereditary hypotrichosis.
76 citations
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October 2000 in “Journal of the American Academy of Dermatology” Follicular mucinosis can be an early sign of aggressive mycosis fungoides.
3 citations
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March 2016 in “Practical radiation oncology” Total skin electron therapy is an effective treatment for mycosis fungoides, balancing effectiveness and side effects.
11 citations
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March 2021 in “Molecular Carcinogenesis” Twist1 is crucial for UVB-induced skin cancer development.
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.
9 citations
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January 2014 in “Molecular Genetics and Metabolism Reports” The rhg mutation in mice affects the Oat gene, causing hair growth issues and other symptoms.
145 citations
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May 2008 in “Cancer Science” Cancer cells often have more copies of TERT and TERC genes, which helps them grow and could affect patient outcomes.
January 2003 in “Hepatology”
January 2024 in “Australasian journal of dermatology (Print)” A boy's hair turned red because of genetic mutations, not lack of zinc.
32 citations
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January 2017 in “Orphanet journal of rare diseases” FOXN1 gene mutations cause a rare, severe immune disease treatable with cell or tissue transplants.
114 citations
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July 2003 in “PubMed” Lack of KSR1 stops certain skin tumors in mice.
1 citations
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January 2023 in “Research Square (Research Square)” A woman's vitiligo improved with tofacitinib treatment, and her skin color remained even after stopping the medication, but there are concerns about cancer risk.
36 citations
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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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September 2016 in “Journal of Dermatological Science” Reduced TRPS1 leads to increased STAT3 and SOX9 in hair follicles, affecting hair growth.