Alexandra L. Hawks
A5044095288- Hedgehog Signaling Pathway Studies
- Genetic and Kidney Cyst Diseases
- DNA Repair Mechanisms
- Carcinogens and Genotoxicity Assessment
- RNA Research and Splicing
- RNA modifications and cancer
- Renal and related cancers
- Biomedical Research and Pathophysiology
- PARP inhibition in cancer therapy
- Cancer-related gene regulation
Clemson University
2020-2023
Significance Through the study of a dental anomaly we identified locus strongly associated with body size in Shetland Sheepdog. Within this are variants two genes: substitution FtsJ RNA 2′-O-Methyltransferase 3 ( FTSJ3 ) and splice donor insertion Growth Hormone 1 GH1 ). We demonstrated that variant causes an abnormal splicing pattern is also observed dominant forms human pituitary dwarfism. Interestingly, estimated to have greatest impact on height weight gene has not been previously...
Abstract BACKGROUND AND AIMS NEK8/NPHP9 encodes a protein that localizes to the primary cilium. Biallelic NEK8 variants are known cause multiorgan developmental defects, including kidney cystic dysplasia and extensive extra-renal with heterozygous carrier parents being asymptomatic [1]. This autosomal recessive inheritance is most common mode for ciliopathies. Complementary this, we now propose dominant negative effect specific missense in kinase domain resulting an autosomal-dominant...
The proper resolution of DNA damage during replication is essential for genome stability. FBH1, a UvrD, helicase plays crucial roles in the response. FBH1 promotes double strand break formation and signaling response to prolonged stress initiate apoptosis. Human regulates RAD51 inhibit homologous recombination. A previous study suggested that mis-regulation may contribute resistance FBH1-deficient cells, but underlying mechanism remains unknown. Here, we provide direct evidence cells. We...