Pygo2 is important for early growth and progression of intestinal tumors, and could be a target for treating cancers with certain mutations.
56 citations
,
January 2014 in “Journal of Investigative Dermatology” Olmsted syndrome can be inherited as an autosomal recessive trait due to a rare TRPV3 gene mutation.
73 citations
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December 2015 in “Nature Genetics” Mutations in TBX3 cause horses to have more even hair color instead of Dun camouflage.
3 citations
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January 2008 in “Endocrine journal” A new mutation linked to partial Androgen Insensitivity Syndrome and prostate cancer was found in a patient unhappy with their female gender assignment.
31 citations
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January 2009 in “Autoimmunity Reviews” Damage to hair follicle stem cells causes permanent hair loss and scarring in cutaneous lupus erythematosus.
20 citations
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May 2011 in “Journal of Clinical Investigation” The study created a mouse model to mimic degenerative diseases for testing tissue repair and new therapies.
51 citations
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January 2004 in “European Journal of Cell Biology” Human cathepsin V can replace mouse cathepsin L to maintain normal skin and hair in mice.
32 citations
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March 2014 in “PLOS ONE” Mice lacking fibromodulin have disrupted healing patterns, leading to abnormal skin repair and scarring.
49 citations
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September 2004 in “Journal of the European Academy of Dermatology and Venereology” Careful light microscopy is crucial for detecting mild cases of pili annulati, which weakens hair and varies widely in expression.
1 citations
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December 2016 in “Revista română de medicină de laborator” The NIPAL4 mutation c.527C>A is common in Romanian patients with autosomal recessive congenital ichthyosis.