153 citations
,
June 2015 in “GenomeBiology.com” This study found that both genome-wide screening methods identified the VTRNA2-1 epiallele as highly responsive to environmental influences, suggesting a link between early embryonic environment, epigenetic changes, and human disease.
7 citations
,
May 2010 in “Journal of Cutaneous Pathology” This study identified a novel locus for hereditary hypotrichosis simplex on chromosome 13q12.12~12.3 in a four-generation Chinese family.
50 citations
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April 2014 in “Nature Communications” This study analyzed skin from 538 knockout mouse mutants and identified 50 with epidermal phenotypes, providing valuable insights into genetic conditions and systemic effects related to skin abnormalities.
6 citations
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April 2018 in “Transplantation proceedings” This case report describes severe agranulocytosis and alopecia in a Japanese woman after starting azathioprine, highlighting the potential role of NUDT15 genetic screening in preventing adverse reactions to the drug.
28 citations
,
January 2008 in “Journal of medical investigation” This study found that Sp6 overproduction in ameloblast-lineage cells increased cell proliferation and ameloblastin expression, suggesting that Sp6 promotes amelogenesis by inhibiting follistatin gene expression.