Search Results - "Bowne, Sara J."

Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements by Wang, Feng, Wang, Hui, Tuan, Han-Fang, Nguyen, Duy H., Sun, Vincent, Keser, Vafa, Bowne, Sara J., Sullivan, Lori S., Luo, Hongrong, Zhao, Ling, Wang, Xia, Zaneveld, Jacques E., Salvo, Jason S., Siddiqui, Sorath, Mao, Louise, Wheaton, Dianna K., Birch, David G., Branham, Kari E., Heckenlively, John R., Wen, Cindy, Flagg, Ken, Ferreyra, Henry, Pei, Jacqueline, Khan, Ayesha, Ren, Huanan, Wang, Keqing, Lopez, Irma, Qamar, Raheel, Zenteno, Juan C., Ayala-Ramirez, Raul, Buentello-Volante, Beatriz, Fu, Qing, Simpson, David A., Li, Yumei, Sui, Ruifang, Silvestri, Giuliana, Daiger, Stephen P., Koenekoop, Robert K., Zhang, Kang, Chen, Rui

“…Retinitis pigmentosa (RP) is a devastating form of retinal degeneration, with significant social and professional consequences. Molecular genetic information…”
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De Novo Occurrence of a Variant in ARL3 and Apparent Autosomal Dominant Transmission of Retinitis Pigmentosa by Strom, Samuel P, Clark, Michael J, Martinez, Ariadna, Garcia, Sarah, Abelazeem, Amira A, Matynia, Anna, Parikh, Sachin, Sullivan, Lori S, Bowne, Sara J, Daiger, Stephen P, Gorin, Michael B

“…Retinitis pigmentosa is a phenotype with diverse genetic causes. Due to this genetic heterogeneity, genome-wide identification and analysis of protein-altering…”
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Exome-Based Mapping and Variant Prioritization for Inherited Mendelian Disorders by Koboldt, Daniel C., Larson, David E., Sullivan, Lori S., Bowne, Sara J., Steinberg, Karyn M., Churchill, Jennifer D., Buhr, Aimee C., Nutter, Nathan, Pierce, Eric A., Blanton, Susan H., Weinstock, George M., Wilson, Richard K., Daiger, Stephen P.

“…Exome sequencing in families affected by rare genetic disorders has the potential to rapidly identify new disease genes (genes in which mutations cause…”
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Allelic heterogeneity and genetic modifier loci contribute to clinical variation in males with X-linked retinitis pigmentosa due to RPGR mutations by Fahim, Abigail T, Bowne, Sara J, Sullivan, Lori S, Webb, Kaylie D, Williams, Jessica T, Wheaton, Dianna K, Birch, David G, Daiger, Stephen P

“…Mutations in RPGR account for over 70% of X-linked retinitis pigmentosa (XlRP), characterized by retinal degeneration and eventual blindness. The clinical…”
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A Novel Dominant Mutation in SAG, the Arrestin-1 Gene, Is a Common Cause of Retinitis Pigmentosa in Hispanic Families in the Southwestern United States by Sullivan, Lori S, Bowne, Sara J, Koboldt, Daniel C, Cadena, Elizabeth L, Heckenlively, John R, Branham, Kari E, Wheaton, Dianna H, Jones, Kaylie D, Ruiz, Richard S, Pennesi, Mark E, Yang, Paul, Davis-Boozer, David, Northrup, Hope, Gurevich, Vsevold V, Chen, Rui, Xu, Mingchu, Li, Yumei, Birch, David G, Daiger, Stephen P

“…To identify the causes of autosomal dominant retinitis pigmentosa (adRP) in a cohort of families without mutations in known adRP genes and consequently to…”
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A dominant mutation in hexokinase 1 (HK1) causes retinitis pigmentosa by Sullivan, Lori S, Koboldt, Daniel C, Bowne, Sara J, Lang, Steven, Blanton, Susan H, Cadena, Elizabeth, Avery, Cheryl E, Lewis, Richard A, Webb-Jones, Kaylie, Wheaton, Dianna H, Birch, David G, Coussa, Razck, Ren, Huanan, Lopez, Irma, Chakarova, Christina, Koenekoop, Robert K, Garcia, Charles A, Fulton, Robert S, Wilson, Richard K, Weinstock, George M, Daiger, Stephen P

“…To identify the cause of retinitis pigmentosa (RP) in UTAD003, a large, six-generation Louisiana family with autosomal dominant retinitis pigmentosa (adRP). A…”
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Essential and Synergistic Roles of RP1 and RP1L1 in Rod Photoreceptor Axoneme and Retinitis Pigmentosa by Yamashita, Tetsuji, Liu, Jiewu, Gao, Jiangang, LeNoue, Sean, Wang, Changguan, Kaminoh, Jack, Bowne, Sara J, Sullivan, Lori S, Daiger, Stephen P, Zhang, Kang, Fitzgerald, Malinda E. C, Kefalov, Vladimir J, Zuo, Jian

“…Retinitis pigmentosa 1 (RP1) is a common inherited retinopathy with variable onset and severity. The RP1 gene encodes a photoreceptor-specific,…”
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IMP Dehydrogenase Type 1 Associates with Polyribosomes Translating Rhodopsin mRNA by Mortimer, Sarah E., Xu, Dong, McGrew, Dharia, Hamaguchi, Nobuko, Lim, Hoong Chuin, Bowne, Sara J., Daiger, Stephen P., Hedstrom, Lizbeth

“…IMP dehydrogenase (IMPDH) catalyzes the pivotal step in guanine nucleotide biosynthesis. Here we show that both IMPDH type 1 (IMPDH1) and IMPDH type 2 are…”
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Genes and Mutations Causing Autosomal Dominant Retinitis Pigmentosa by Daiger, Stephen P, Bowne, Sara J, Sullivan, Lori S

“…Retinitis pigmentosa (RP) has a prevalence of approximately one in 4000; 25%-30% of these cases are autosomal dominant retinitis pigmentosa (adRP). Like other…”
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Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies by Sohocki, Melanie M., Daiger, Stephen P., Bowne, Sara J., Rodriquez, Joseph A., Northrup, Hope, Heckenlively, John R., Birch, David G., Mintz-Hittner, Helen, Ruiz, Richard S., Lewis, Richard A., Saperstein, David A., Sullivan, Lori S.

“…Inherited retinopathies are a genetically and phenotypically heterogeneous group of diseases affecting approximately one in 2000 individuals worldwide. For the…”
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Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis by Daiger, Stephen P, Sohocki, Melanie M, Bowne, Sara J, Sullivan, Lori S, Blackshaw, Seth, Cepko, Constance L, Payne, Annette M, Bhattacharya, Shomi S, Khaliq, Shagufta, Qasim Mehdi, S, Birch, David G, Harrison, Wilbur R, Elder, Frederick F.B, Heckenlively, John R

“…Leber congenital amaurosis (LCA, MIM 204000) accounts for at least 5% of all inherited retinal disease and is the most severe inherited retinopathy with the…”
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History of Finding Genes and Mutations Causing Inherited Retinal Diseases by Daiger, Stephen P, Sullivan, Lori S, Cadena, Elizabeth L, Bowne, Sara J

“…This is a brief history of the work by many investigators throughout the world to find genes and mutations causing inherited retinal diseases (IRDs). It…”
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Time Course of Disease Progression of PRPF31-mediated Retinitis Pigmentosa by Kiser, Kelly, Webb-Jones, Kaylie D., Bowne, Sara J., Sullivan, Lori S., Daiger, Stephen P., Birch, David G.

“…Variants in PRPF31, a splicing factor, are a common cause of autosomal dominant retinitis pigmentosa (RP). Deleterious variants are thought to cause disease by…”
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Mutations in the X-linked retinitis pigmentosa genes RPGR and RP2 found in 8.5% of families with a provisional diagnosis of autosomal dominant retinitis pigmentosa by Churchill, Jennifer D, Bowne, Sara J, Sullivan, Lori S, Lewis, Richard Alan, Wheaton, Dianna K, Birch, David G, Branham, Kari E, Heckenlively, John R, Daiger, Stephen P

“…We determined the fraction of families in a well-characterized cohort with a provisional diagnosis of autosomal dominant retinitis pigmentosa (adRP) that have…”
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Mutations in a novel retina-specific gene cause autosomal dominant retinitis pigmentosa by Sullivan, Lori S, Heckenlively, John R, Bowne, Sara J, Zuo, Jian, Hide, Winston A, Gal, Andreas, Denton, Michael, Inglehearn, Chris F, Blanton, Susan H, Daiger, Stephen P

“…Inherited retinal diseases are a common cause of visual impairment in children and young adults, often resulting in severe loss of vision in later life. The…”
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Mutations in the Kinesin-2 Motor KIF3B Cause an Autosomal-Dominant Ciliopathy by Cogné, Benjamin, Latypova, Xenia, Senaratne, Lokuliyanage Dona Samudita, Martin, Ludovic, Koboldt, Daniel C., Kellaris, Georgios, Fievet, Lorraine, Le Meur, Guylène, Caldari, Dominique, Debray, Dominique, Nizon, Mathilde, Frengen, Eirik, Bowne, Sara J., Buckley, Reuben M., Aberdein, Danielle, Alves, Paulo C., Barsh, Gregory S., Bellone, Rebecca R., Bergström, Tomas F., Boyko, Adam R., Brockman, Jeffrey A., Casal, Margret L., Castelhano, Marta G., Distl, Ottmar, Dodman, Nicholas H., Ellinwood, N. Matthew, Fogle, Jonathan E., Forman, Oliver P., Garrick, Dorian J., Ginns, Edward I., Häggström, Jens, Harvey, Robert J., Hasegawa, Daisuke, Haase, Bianca, Helps, Christopher R., Hernandez, Isabel, Hytönen, Marjo K., Kaukonen, Maria, Kaelin, Christopher B., Kosho, Tomoki, Leclerc, Emilie, Lear, Teri L., Leeb, Tosso, Li, Ronald H.L., Lohi, Hannes, Longeri, Maria, Magnuson, Mark A., Malik, Richard, Mane, Shrinivas P., Munday, John S., Murphy, William J., Pedersen, Niels C., Rothschild, Max F., Rusbridge, Clare, Shapiro, Beth, Stern, Joshua A., Swanson, William F., Terio, Karen A., Todhunter, Rory J., Warren, Wesley C., Wilcox, Elizabeth A., Wildschutte, Julia H., Yu, Yoshihiko, Cadena, Elizabeth L., Daiger, Stephen P., Bujakowska, Kinga M., Pierce, Eric A., Gorin, Michael, Katsanis, Nicholas, Bézieau, Stéphane, Petersen-Jones, Simon M., Occelli, Laurence M., Lyons, Leslie A., Legeai-Mallet, Laurence, Sullivan, Lori S., Davis, Erica E., Isidor, Bertrand

“…Kinesin-2 enables ciliary assembly and maintenance as an anterograde intraflagellar transport (IFT) motor. Molecular motor activity is driven by a…”
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Next-generation sequencing to solve complex inherited retinal dystrophy: A case series of multiple genes contributing to disease in extended families by Jones, Kaylie D, Wheaton, Dianna K, Bowne, Sara J, Sullivan, Lori S, Birch, David G, Chen, Rui, Daiger, Stephen P

“…With recent availability of next-generation sequencing (NGS), it is becoming more common to pursue disease-targeted panel testing rather than traditional…”
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Prevalence of mutations in eyeGENE probands with a diagnosis of autosomal dominant retinitis pigmentosa by Sullivan, Lori S, Bowne, Sara J, Reeves, Melissa J, Blain, Delphine, Goetz, Kerry, Ndifor, Vida, Vitez, Sally, Wang, Xinjing, Tumminia, Santa J, Daiger, Stephen P

“…To screen samples from patients with presumed autosomal dominant retinitis pigmentosa (adRP) for mutations in 12 disease genes as a contribution to the…”
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Molecular Defects of the Disease-Causing Human Arrestin-1 C147F Mutant by Vishnivetskiy, Sergey A, Sullivan, Lori S, Bowne, Sara J, Daiger, Stephen P, Gurevich, Eugenia V, Gurevich, Vsevolod V

“…The purpose of this study was to identify the molecular defect in the disease-causing human arrestin-1 C147F mutant. The binding of wild-type (WT) human…”
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A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement by BOWNE, Sara J, HUMPHRIES, Marian M, FULTON, Robert S, SODERGREN, Erica J, ALLMAN, Denis, MILLINGTON-WARD, Sophia, PALFI, Arpad, MCKEE, Alex, BLANTON, Susan H, SLIFER, Susan, KONIDARI, Loanna, FARRAR, G. Jane, SULLIVAN, Lori S, DAIGER, Stephen P, HUMPHRIES, Peter, KENNA, Paul F, TAM, Lawrence Cs, KIANG, Anna S, CAMPBELL, Matthew, WEINSTOCK, George M, KOBOLDT, Daniel C, LI DING

“…Linkage testing using Affymetrix 6.0 SNP Arrays mapped the disease locus in TCD-G, an Irish family with autosomal dominant retinitis pigmentosa (adRP), to an…”
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