Marilyn J. Telen

The paper identifies Gardos as an amplifier of PIEZO1-TMEM16F signaling in red blood cells, enhancing Ca2+ entry and PS externalization, and suggests it as a therapeutic target for diseases like sickle cell disease.

This study identifies a BACH2-NRF2 axis regulating fetal hemoglobin activation through genetic and functional analyses in a large multi-ancestry cohort.

This paper performs a local ancestry-aware GWAS on SCD cohorts to identify novel genetic loci associated with eGFR, uncovering regions linked to inflammation, ECM integrity, and other pathways relevant to SCD nephropathy.

This paper shows that cannabidiol inhibits PIEZO channels in red blood cells, reducing calcium overload and related pathologies in hereditary xerocytosis and sickle cell disease.

This paper identifies PIEZO1-TMEM16F coupling as a mechanism driving phosphatidylserine exposure in sickle red blood cells and proposes targeting this pathway to reduce disease complications.

This paper introduces the shortest reactional distance (SRD) metric to improve the biological interpretation of metabolite genome-wide association study (mGWAS) results by linking genes to metabolites based on metabolic pathway knowledge.

The paper validates novel telomere length regulation genes POP5 and KBTBD6 identified through trans-ancestry GWAS using functional experiments in blood cells.

The paper presents a comprehensive catalog of structural variants across 138,134 individuals, identifying novel variants and their associations with cardio-metabolic and hematologic traits.

The paper evaluates polygenic trait scores for hematological traits in sickle cell disease patients, finding limited predictive power for complications but significant associations for fetal hemoglobin.

This study identifies 59 sentinel variants and two novel genes associated with telomere length using whole genome sequences from 109,122 trans-ethnic individuals.

The paper uses Mendelian randomization to confirm a causal link between L-glutamine levels and reduced painful crises in sickle cell disease, while finding no significant causal relationships for other metabolites.

The paper identifies loss-of-function variants affecting liver-related blood traits that reduce CVD risk without increasing metabolic disease risk, highlighting potential therapeutic targets.