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Full-Text Articles in Life Sciences

Molecular Characterization Of A Patient Presumed To Have Prader-Willi Syndrome, Marina Falaleeva, Carlos R. Sulsona, Horst R. Zielke, Kathleen M. Currey, Pierre De La Grange, Vahid Aslanzadeh, Daniel J. Driscoll, Stefan Stamm May 2013

Molecular Characterization Of A Patient Presumed To Have Prader-Willi Syndrome, Marina Falaleeva, Carlos R. Sulsona, Horst R. Zielke, Kathleen M. Currey, Pierre De La Grange, Vahid Aslanzadeh, Daniel J. Driscoll, Stefan Stamm

Molecular and Cellular Biochemistry Faculty Publications

Prader-Willi syndrome (PWS) is caused by the loss of RNA expression from an imprinted region on chromosome 15 that includes SNRPN, SNORD115, and SNORD116. Currently, there are no mouse models that faithfully reflect the human phenotype and investigations rely on human post-mortem material. During molecular characterization of tissue deposited in a public brain bank from a patient diagnosed with Prader-Willi syndrome, we found RNA expression from SNRPN, SNORD115, and SNORD116 which does not support a genetic diagnosis of Prader-Willi syndrome. The patient was a female, Caucasian nursing home resident with history of morbid obesity (BMI 56.3) and mental retardation. She …


Cardiorespiratory Responses In Healthy-Weight And Obese Women And Children, Elizabeth Ann Easley Jan 2013

Cardiorespiratory Responses In Healthy-Weight And Obese Women And Children, Elizabeth Ann Easley

Theses and Dissertations--Kinesiology and Health Promotion

A criterion method to evaluate cardiorespiratory health is measuring peak oxygen consumption (VO2 peak) from a maximal graded exercise test (GXT). While VO2 peak is a valuable measure, heart rate recovery (HRRec) and endothelial function (EF) also describe cardiorespiratory health and fitness. The purpose of this study was to investigate whether differences exist in VO2 peak, HRRec, and EF between healthy-weight (HW) and obese (OB) women and children and to determine if there were significant correlations among these variables. A total of 60 women and children participated in this study. Anthropometric, body composition, resting heart rate and …