8 citations
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June 2016 in “Journal of Investigative Dermatology” A rare genetic deletion in the KRT1 gene causes unique skin symptoms in a family.
7 citations
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April 2000 in “Mammalian Genome” This study identified a new mutation in SELH/Bc mice causing distinctive whisker and body hair abnormalities, mapped near the type I keratin cluster on chromosome 11.
6 citations
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August 2022 in “The Italian Journal of Pediatrics/Italian journal of pediatrics” This report identified three novel genetic mutations associated with congenital ichthyosis in Italian newborns and emphasized the importance of next-generation sequencing for personalized patient management.
2 citations
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May 2022 in “International journal of molecular sciences” This study found that the methylation level at CpG III site 4 of the KRT17 gene promoter significantly influences wool production in Angora rabbits, suggesting its potential as an epigenetic marker for breeding high wool yield.
October 2011 in “Journal of dermatology” A man with a rare skin condition and a new gene mutation developed high calcium levels due to his treatment.