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research Sequence of the intron/exon junctions of the coding region of the human androgen receptor gene and identification of a point mutation in a family with complete androgen insensitivity.

32 citations , November 2020 in “UNC Libraries”

This study identified a mutation in the steroid-binding domain of the androgen receptor gene associated with complete androgen insensitivity syndrome, impairing male sexual development due to altered androgen receptor protein function.

research 197 A novel splice site mutation in LIPH identified in a Japanese patient with autosomal recessive woolly hair

August 2016 in “Journal of Investigative Dermatology”

This case report identifies a novel LIPH gene mutation linked to autosomal recessive woolly hair/hypotrichosis in a Japanese boy, expanding the spectrum of known mutations associated with this condition.

research Esrp1-Regulated Splicing of Arhgef11 Isoforms Is Required for Epithelial Tight Junction Integrity

25 citations , November 2018 in “Cell reports”

This study found that the ablation of Esrp1 and Esrp2 disrupts epithelial tight junctions by affecting Arhgef11 isoform expressions, highlighting a potential mechanistic link between splicing alterations and epithelial barrier defects.

research Genomic Organization and Amplification of the Human Keratin 15 and Keratin 19 Genes

12 citations , January 2000 in “Biochemical and Biophysical Research Communications”

This study characterized the intron-exon organization of human keratin 15 and keratin 19 genes to aid future mutation detection analyses related to potential genetic disorders of keratinization.