Medicine and Health Sciences Commons^™

Distinct Phenotypes In Zebrafish Models Of Human Startle Disease, Lisa R. Ganser, Qing Yan, Victoria M. James, Robert Kozol, Maya Topf, Robert J. Harvey, Julia E. Dallman

Faculty and Research Publications

Startle disease is an inherited neurological disorder that causes affected individuals to suffer noise- or touch-induced non-epileptic seizures, excessive muscle stiffness and neonatal apnea episodes. Mutations known to cause startle disease have been identified in glycine receptor subunit (GLRA1 and GLRB) and glycine transporter (SLC6A5) genes, which serve essential functions at glycinergic synapses. Despite the significant successes in identifying startle disease mutations, many idiopathic cases remain unresolved. Exome sequencing in these individuals will identify new candidate genes. To validate these candidate disease genes, zebrafish is an ideal choice due to rapid knockdown strategies, accessible embryonic stages, and stereotyped behaviors. The …

Phospholipid Scramblase-1-Induced Lipid Reorganization Regulates Compensatory Endocytosis In Neuroendocrine Cells, Stéphane Ory, Mara Ceridono, Fanny Momboisse, Sébastien Houy, Sylvette Chasserot-Golaz, Dimitri Heintz, Valérie Calco, Anna-Marie Haeberlé, Flor A. Espinoza, Peter J. Sims, Yannick Bailly, Marie-France Bader, Stéphane Gasman

Faculty and Research Publications

Calcium-regulated exocytosis in neuroendocrine cells and neurons is accompanied by the redistribution of phosphatidylserine (PS) to the extracellular space, leading to a disruption of plasma membrane asymmetry. How and why outward translocation of PS occurs during secretion are currently unknown. Immunogold labeling on plasma membrane sheets coupled with hierarchical clustering analysis demonstrate that PS translocation occurs at the vicinity of the secretory granule fusion sites. We found that altering the function of the phospholipid scramblase-1 (PLSCR-1) by expressing a PLSCR-1 calcium-insensitive mutant or by using chromaffin cells from PLSCR-1^−/−mice prevents outward translocation of PS in cells stimulated for …

Prognostic Value Of Patient-Reported Symptom Interference In Patients With Late-Stage Lung Cancer, Bradley J. Barney, Xin Shelley Wang, Charles Lu, Zhongxing Liao, Valen E. Johnson, Charles S. Cleeland, Tito R. Mendoza

Faculty and Research Publications

Purpose

Patient-reported outcomes (PROs) have been found to be significant predictors of clinical outcomes such as overall survival (OS), but the effect of demographic and clinical factors on the prognostic ability of PROs is less understood. Several PROs derived from the 12-item Short-Form Health Survey (SF-12) and M. D. Anderson Symptom Inventory (MDASI) were investigated for association with OS, with adjustments for other factors, including performance status.

Methods

A retrospective analysis was performed on data from 90 patients with stage IV non-small cell lung cancer. Several baseline PROs were added to a base Cox proportional hazards model to examine the …