Search Results - "Breuer, Debra"

A Comprehensive Mutation Analysis of RP2 and RPGR in a North American Cohort of Families with X-Linked Retinitis Pigmentosa by Breuer, Debra K., Yashar, Beverly M., Filippova, Elena, Hiriyanna, Suja, Lyons, Robert H., Mears, Alan J., Asaye, Bersabell, Acar, Ceren, Vervoort, Raf, Wright, Alan F., Musarella, Maria A., Wheeler, Patricia, MacDonald, Ian, Iannaccone, Alessandro, Birch, David, Hoffman, Dennis R., Fishman, Gerald A., Heckenlively, John R., Jacobson, Samuel G., Sieving, Paul A., Swaroop, Anand

“…X-linked retinitis pigmentosa (XLRP) is a clinically and genetically heterogeneous degenerative disease of the retina. At least five loci have been mapped for…”
Get full text

Retinal Histopathology of an XLRP Carrier with a Mutation in the RPGR Exon ORF15 by Aguirre, Gustavo D., Yashar, Beverly M., John, Sinoj K., Smith, Julie E., Breuer, Debra K., Hiriyanna, S., Swaroop, Anand, Milam, Ann H.

“…X-linked retinitis pigmentosa comprises the severe forms of RP, with early onset of night blindness, rapid constriction of visual fields and eventual loss of…”
Get full text

Biochemical Characterization and Subcellular Localization of the Mouse Retinitis Pigmentosa GTPase Regulator (mRpgr) by Yan, Denise, Swain, Prabodha K., Breuer, Debra, Tucker, Rebecca M., Wu, Weiping, Fujita, Ricardo, Rehemtulla, Alnawaz, Burke, David, Swaroop, Anand

“…The retinitis pigmentosaGTPase regulator (RPGR) gene encodes a protein homologous to the RCC1 guanine nucleotide exchange factor and is mutated in 20% of…”
Get full text

Clinical studies of X-linked retinitis pigmentosa in three Swedish families with newly identified mutations in the RP2 and RPGR-ORF15 genes by Andréasson, Sten, Breuer, Debra K., Eksandh, Louise, Ponjavic, Vesna, Frennesson, Christina, Hiriyanna, Suja, Filippova, Elena, Yashar, Beverly M., Swaroop, Anand

“…Purpose: To describe new disease-causing RP2 and RPGR-ORF15 mutations and their corresponding clinical phenotypes in Swedish families with X-linked retinitis…”
Get full text

Understanding the mechanism(s) of retinal degeneration in X -linked retinitis pigmentosa by Breuer, Debra Kay

“…X-linked retinitis pigmentosa (XLRP) is a clinically and genetically heterogeneous degenerative disease of the retina. RP2 and RP3 account for 10–20% and…”
Get full text

Mutations in a BTB-Kelch Protein, KLHL7, Cause Autosomal-Dominant Retinitis Pigmentosa by Friedman, James S., Ray, Joseph W., Waseem, Naushin, Johnson, Kory, Brooks, Matthew J., Hugosson, Therése, Breuer, Debra, Branham, Kari E., Krauth, Daniel S., Bowne, Sara J., Sullivan, Lori S., Ponjavic, Vesna, Gränse, Lotta, Khanna, Ritu, Trager, Edward H., Gieser, Linn M., Hughbanks-Wheaton, Dianna, Cojocaru, Radu I., Ghiasvand, Noor M., Chakarova, Christina F., Abrahamson, Magnus, Göring, Harald H.H., Webster, Andrew R., Birch, David G., Abecasis, Goncalo R., Fann, Yang, Bhattacharya, Shomi S., Daiger, Stephen P., Heckenlively, John R., Andréasson, Sten, Swaroop, Anand

“…Retinitis pigmentosa (RP) refers to a genetically heterogeneous group of progressive neurodegenerative diseases that result in dysfunction and/or death of rod…”
Get full text

Fatty acid substrate specificities of human prostaglandin-endoperoxide H synthase-1 and -2. Formation of 12-hydroxy-(9Z, 13E/Z, 15Z)- octadecatrienoic acids from alpha-linolenic acid by Laneuville, O, Breuer, D K, Xu, N, Huang, Z H, Gage, D A, Watson, J T, Lagarde, M, DeWitt, D L, Smith, W L

“…Human prostaglandin-endoperoxide H synthase-1 and -2 (hPGHS-1 and hPGHS-2) were expressed by transient transfection of COS-1 cells. Microsomes prepared from…”
Get full text

Fatty Acid Substrate Specificities of Human Prostaglandin-endoperoxide H Synthase-1 and −2 by Laneuville, Odette, Breuer, Debra K., Xu, Naxing, Huang, Z.H., Gage, Douglas A., Watson, J. Throck, Lagarde, Michel, DeWitt, David L., Smith, William L.

“…Human prostaglandin-endoperoxide H synthase-1 and −2 (hPGHS-1 and hPGHS-2) were expressed by transient transfection of COS-1 cells. Microsomes prepared from…”
Get full text

Understanding the mechanism(s) of retinal degeneration in X-linked retinitis pigmentosa by Breuer, Debra Kay

“…X-linked retinitis pigmentosa (XLRP) is a clinically and genetically heterogeneous degenerative disease of the retina. RP2 and RP3 account for 10-20% and…”
Get full text

DIFFERENTIAL INHIBITION OF HUMAN PROSTAGLANDIN ENDOPEROXIDE H SYNTHASES-1 AND -2 BY ASPIRIN AND OTHER NONSTEROIDAL ANTI-INFLAMMATORY DRUGS1 by Smith, William L., Lecomte, Marc, Laneuville, Odette, Breuer, Debra K., DeWitt, David L.

“…An in vitro expression system was used to investigate the interaction of aspirin and other nonsteroidal anti-inflammatory drugs (NSAIDs) with human…”
Get full text