Publications by authors named "J B Hetmanski"

Graphene Oxide (GO) has been shown to increase the expression of key cartilage genes and matrix components within 3D scaffolds. Understanding the mechanisms behind the chondroinductive ability of GO is critical for developing articular cartilage regeneration therapies but remains poorly understood. The objectives of this work were to elucidate the effects of GO on the key chondrogenic signalling pathway - TGFβ and identify the mechanism through which signal activation is achieved in human chondrocytes.

View Article and Find Full Text PDF

Introduction: The frequency and implications of secondary findings (SFs) from genomic testing data have been extensively researched. However, little is known about the frequency or reporting of SFs in Africans, who are underrepresented in large-scale population genomic studies. The availability of data from the first whole-genome sequencing for orofacial clefts in an African population motivated this investigation.

View Article and Find Full Text PDF
Article Synopsis
  • The study investigates damaging mutations in the human genome that may contribute to nonsyndromic cleft lip with or without cleft palate (nsCL ± P), focusing on high-impact mutations in African and Brazilian cohorts.* -
  • Researchers utilized next-generation sequencing (NGS) and whole-exome sequencing to identify pathogenic variants and discovered several damaging mutations in a gene related to cell adhesion, which has a link to cleft palate in mice.* -
  • The findings highlight the significance of the gene encoding AFADIN in the risk for nsCL ± P in humans and emphasize the effectiveness of combining NGS with computational analysis to better understand this condition's genetic basis.*
View Article and Find Full Text PDF

The majority (85%) of nonsyndromic cleft lip with or without cleft palate (nsCL/P) cases occur sporadically, suggesting a role for de novo mutations (DNMs) in the etiology of nsCL/P. To identify high impact protein-altering DNMs that contribute to the risk of nsCL/P, we conducted whole-genome sequencing (WGS) analyses in 130 African case-parent trios (affected probands and unaffected parents). We identified 162 high confidence protein-altering DNMs some of which are based on available evidence, contribute to the risk of nsCL/P.

View Article and Find Full Text PDF

Membrane traffic is an important regulator of cell migration through the endocytosis and recycling of cell surface receptors such as integrin heterodimers. Intracellular nanovesicles (INVs) are transport vesicles that are involved in multiple membrane trafficking steps, including the recycling pathway. The only known marker for INVs is tumor protein D54 (TPD54/TPD52L2), a member of the TPD52-like protein family.

View Article and Find Full Text PDF