Jessica K. Holien

Leukocyte Immunoglobulin-Like Receptor B1 and its Interactions with Human Leukocyte Antigens

This study investigates LILRB1-HLA-I interactions, showing differential binding preferences across HLA-I allotypes and providing structural insights relevant to immunotherapy.

CharacTERT: A machine learning tool for classifying hTERT missense variants

CharacTERT classifies hTERT missense variants using machine learning models that integrate sequence and structure-based features, achieving high accuracy and sensitivity in predicting pathogenicity.

Minute amounts of helicase-deficient truncated RECQL4 are sufficient for DNA replication.

This study identifies KLHDC3 as a rescue factor for RECQL4 mutations, showing that low levels of a truncated RECQL4 protein can support DNA replication without requiring its ATPase or helicase domains.

DRP1 inhibition confers cardioprotection against doxorubicin while preserving anticancer efficacy

This paper shows DRP1 inhibition reduces doxorubicin-induced cardiotoxicity while maintaining its anticancer effects in multiple cancer models.

Long-read sequencing-based atlas of tissue-specific expression of Drp1 transcript variants

The paper uses long-read sequencing to map Drp1 transcript variants in human and mouse tissues, revealing tissue-specific expression and isoform-dependent mitochondrial fission activity.

Functional genomics for curation of variants in telomere biology disorder associated genes, a systematic review.

This paper reviews functional genomic assays for telomere biology disorder genes to assess their utility in variant classification.