January 1995 in “Adolescent and pediatric gynecology” This article reviews genetic and phenotypic aspects of androgen insensitivity syndromes, emphasizing the diversity of mutations that complicates molecular screening and the importance of genotype-phenotype correlations.
9 citations
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February 2018 in “The Journal of Dermatology” This study identified a novel splice site mutation in the LIPH gene associated with autosomal recessive woolly hair, contributing to understanding the genetic basis of this condition.
37 citations
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October 2021 in “Journal of Clinical Investigation” This study suggests that inflammation in the skin can exacerbate intestinal inflammation in inflammatory bowel diseases by activating fibroblasts in the colon through hyaluronan fragments released during skin inflammation.
February 2024 in “BMC genomics” This study identified a gene variant in the TRPV3 gene that may explain the suri alpaca phenotype, characterized by longer and less crimped fleece, suggesting this variant's involvement in the development of these hair characteristics compared to the huacaya phenotype.
11 citations
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April 2023 in “Frontiers in Pharmacology” This study reported that the Computational Analysis of Novel Drug Opportunities platform effectively uses integrated biological data, including side effects and pathways, to generate potential drug candidates for colon cancer and migraine disorders.