Medical Genetics Commons^™

Experiences In Physical Education With Bardet-Biedl Syndrome: An Interpretive Phenomenological Analysis Case Study, Katherine Holland, Justin A. Haegele, Xihe Zhu, Ellie Brady

Human Movement Studies & Special Education Faculty Publications

The purpose of this study was to examine physical education (PE) experiences from the perspective of an adult with Bardet-Biedl syndrome. An interpretative phenomenological analysis (IPA) research approach was used, and one male (age 32) with Bardet-Biedl syndrome acted as the participant. Sources of data included a semi-structured, audiotaped telephone interview and reflective interview notes. The interview was transcribed verbatim and data were analyzed thematically using a two-step approach informed by the IPA. Three themes emerged from the data: (a) "We were pretty much good friends": The teacher's influence, (b) "You're different, must destroy": Bullying and negative peer interactions, and …

Nucleic Acid Oxidation In Human Health And Disease, Mu-Rong Chao, Pavel Rossner Jr., Siamak Haghdoost, Hueiwang Anna Jeng, Chiung-Wen Hu

Community & Environmental Health Faculty Publications

No abstract provided.

Variable Number Of Tandem Repeat Polymorphisms (Vntrs) In The Acan Gene Associated With Pectus Excavatum, Michael W. Stacey, Serina Neumann, Ashley Dooley, Kara Segna, Robert Kelly, Donald Nuss, Anne Kuhn, Michael Goretsky, Annie Fecteau, Aimee Pastor, Virginia Proud

Bioelectrics Publications

No abstract provided.

Nuclear Receptor Co-Repressor Gene Localizes To 17p11.2, A Frequently Deleted Band In Malignant Disorders, Michael W. Stacey, Jianxiang Wang, Rebecca L. Byrd, Johnson M. Liu, William G. Kearns

Bioelectrics Publications

The t(8;21) between the AML1 and ETO genes is a commonly seen genetic alteration in acute myeloid leukemia. Recently, we reported that the fusion partner ETO binds to the human nuclear receptor co-repressor (NCOR), a member of the NCOR/SIN3/histone deacetylase complex. This complex mediates transcriptional repression as a result of chromatin remodeling. Here, we used a combination of fluorescence in situ hybridization and hybrid panels to localize the human NCOR gene (NCOR) to chromosome band 17p11.2. The position of human NCOR on 17p11 raises the possibility of deranged transcriptional regulation in malignant disorders associated with deletions of 17p.

Aneuploidy Frequencies In Semen Fractions From Ten Oligoasthenoteratozoospermic Patients Donating Sperm For Intracytoplasmic Sperm Injection, Jerome Pfeffer, Myung-Geol Pang, Stanton F. Hoegerman, Christopher J. Osgood, M. W. Stacey, Jacob Mayer, Sergio Oehninger, William G. Kearns

Biological Sciences Faculty Publications

Objective: To determine aneuploidy frequencies in pellet and swim-up semen fractions from 10 infertile men with severe oligoasthenoteratozoospermia (OAT) who were donating sperm for intracytoplasmic sperm injection and to determine whether the swim-up isolation method would successfully separate aneuploid from haploid sperm.

Design: Prospective study.

Setting: Infertility clinic and molecular genetics laboratory.

Patient(s): Ten patients with severe OAT.

Intervention(s): Cytogenetic analyses by fluorescence in situ hybridization to determine aneuploidy frequencies for chromosomes 1, 13, 18, 21, X, and Y in sperm from swim-up and pellet fractions.

Main Outcome Measure(s): Gametic aneuploidy was scored in sperm fractions separated by the swim-up …

Variant Forms Of Ataxia Telangiectasia, A. M. R. Taylor, E. Flude, B. Laher, Michael W. Stacey, E. Mckay, J. Watt, S. H. Greens, A. E. Harding

Bioelectrics Publications

Two ataxia telangiectasia patients with unusual clinical and cellular features are described. Cultured fibroblasts and PHA stimulated lymphocytes from these two patients showed a smaller increase of radiosensitivity than cells from other A-T patients, as measured by colony forming ability or induced chromosome damage respectively, after exposure to ionising radiation. The response of DNA synthesis to irradiation of these cells was, however, the same as for other A-T patients. Cells from a third patient with some clinical features of A-T but with a very protracted course also showed low levels of radiation induced chromosome damage, but colony forming ability and …