Search Results - "Fike, Francesca"

Arginine-rich cell-penetrating peptide dramatically enhances AMO-mediated ATM aberrant splicing correction and enables delivery to brain and cerebellum by Du, Liutao, Kayali, Refik, Bertoni, Carmen, Fike, Francesca, Hu, Hailiang, Iversen, Patrick L., Gatti, Richard A.

“…Antisense morpholino oligonucleotides (AMOs) can reprogram pre-mRNA splicing by complementary binding to a target site and regulating splice site selection,…”
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Radioprotective effects of manganese-containing superoxide dismutase mimics on ataxia–telangiectasia cells by Pollard, Julianne M., Reboucas, Julio S., Durazo, Armando, Kos, Ivan, Fike, Francesca, Panni, Moeen, Gralla, Edith Butler, Valentine, Joan Selverstone, Batinic-Haberle, Ines, Gatti, Richard A.

“…We tested several classes of antioxidant manganese compounds for radioprotective effects using human lymphoblastoid cells: six porphyrins, three salens, and…”
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Reciprocal regulation of SOCS1 and SOCS3 enhances resistance to ionizing radiation in glioblastoma multiforme by HONG ZHOU, MIKI, Rika, EEVA, Mervi, FIKE, Francesca M, SELIGSON, David, LU YANG, YOSHIMURA, Akihiko, TEITELL, Michael A, JAMIESON, Christina A. M, CACALANO, Nicholas A

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Simultaneous presentation of 2 rare hereditary immunodeficiencies: IL-12 receptor β1 deficiency and ataxia-telangiectasia by Ehlayel, Mohammad, MD, de Beaucoudrey, Ludovic, MSc, Fike, Francesca, BSc, Nahas, Shareef A., PhD, Feinberg, Jacqueline, PhD, Casanova, Jean-Laurent, MD, PhD, Gatti, Richard A., MD

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Patterned CpG Methylation of Silenced B Cell Gene Promoters in Classical Hodgkin Lymphoma-derived and Primary Effusion Lymphoma Cell Lines by Doerr, Jeanette R., Malone, Cindy S., Fike, Francesca M., Gordon, Melinda S., Soghomonian, Shahe V., Thomas, Roman K., Tao, Qian, Murray, Paul G., Diehl, Volker, Teitell, Michael A., Wall, Randolph

“…Hodgkin and Reed–Sternberg (HRS) cells of classical Hodgkin lymphoma (cHL) and primary effusion lymphoma (PEL) are derived from germinal center (GC) and…”
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A‐TWinnipeg: Pathogenesis of rare ATM missense mutation c.6200C>A with decreased protein expression and downstream signaling, early‐onset dystonia, cancer, and life‐threatening radiotoxicity by Nakamura, Kotoka, Fike, Francesca, Haghayegh, Sara, Saunders‐Pullman, Rachel, Dawson, Angelika J., Dörk, Thilo, Gatti, Richard A.

“…We studied 10 Mennonite patients who carry the c.6200C>A missense mutation (p.A2067D) in the ATM gene, all of whom exhibited a phenotypic variant of…”
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Ataxia-telangiectasia: atypical presentation and toxicity of cancer treatment by Yanofsky, Rochelle A, Seshia, Sashi S, Dawson, Angelika J, Stobart, Kent, Greenberg, Cheryl R, Booth, Frances A, Prasad, Chitra, Del Bigio, Marc R, Wrogemann, Jens J, Fike, Francesca, Gatti, Richard A

“…The onset of progressive cerebellar ataxia in early childhood is considered a key feature of ataxia-telangiectasia (A-T), accompanied by ocular apraxia,…”
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Reciprocal Regulation of SOCS 1 and SOCS3 Enhances Resistance to Ionizing Radiation in Glioblastoma Multiforme by Zhou, Hong, Miki, Rika, Eeva, Mervi, Fike, Francesca M, Seligson, David, Yang, Lu, Yoshimura, Akihiko, Teitell, Michael A, Jamieson, Christina A M, Cacalano, Nicholas A

“…Purpose: The expression of suppressors of cytokine signaling 1 ( SOCS1 ) and SOCS3 genes is dysregulated in several solid tumors, causing aberrant activation…”
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B29 Gene Silencing in Pituitary Cells Is Regulated by Its 3′ Enhancer by Malone, Cindy S., Kuraishy, Ali I., Fike, Francesca M., Loya, Ruchika G., Mikkili, Minil R., Teitell, Michael A., Wall, Randolph

“…B cell-specific B29 ( Igβ, CD79b) genes in rat, mouse, and human are situated between the 5′ growth hormone (GH) locus control region and the 3′ GH gene…”
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A New Series of Small Molecular Weight Compounds Induce Read Through of All Three Types of Nonsense Mutations in the ATM Gene by Du, Liutao, Jung, Michael E, Damoiseaux, Robert, Completo, Gladys, Fike, Francesca, Ku, Jin-Mo, Nahas, Shareef, Piao, Cijing, Hu, Hailiang, Gatti, Richard A

“…Chemical-induced read through of premature stop codons might be exploited as a potential treatment strategy for genetic disorders caused by nonsense mutations…”
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RNA sequencing for the detection of MET exon 14 skipping in specimens with splice-site mutations by Sitlani, Parth, Cherukuri, Durga Prasad, Panjikaran, Maya P, Weiner, Dana, Fike, Francesca, Xia, Yu, Keeler, Lauryn, Tseng, Richard, Petersen, Paris, Scott, Chris, Sims, Gregory, Falk, Jeffrey, Graber, Armin

“…Abstract only…”
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Mutation of senataxin alters disease-specific transcriptional networks in patients with ataxia with oculomotor apraxia type 2 by Fogel, Brent L, Cho, Ellen, Wahnich, Amanda, Gao, Fuying, Becherel, Olivier J, Wang, Xizhe, Fike, Francesca, Chen, Leslie, Criscuolo, Chiara, De Michele, Giuseppe, Filla, Alessandro, Collins, Abigail, Hahn, Angelika F, Gatti, Richard A, Konopka, Genevieve, Perlman, Susan, Lavin, Martin F, Geschwind, Daniel H, Coppola, Giovanni

“…Senataxin, encoded by the SETX gene, contributes to multiple aspects of gene expression, including transcription and RNA processing. Mutations in SETX cause…”
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Abstract 4683: Co-existence of SRSF2 and EZH2 gene mutations in myeloid malignancies by Cherukuri, Durga P., Kwok, Brian, Lekostaj, Jacqueline, Petersen, Paris, Bui, Peter, Nooraie, Farzad, Cheng, Li, Fike, Francesca, Taylor, David A., Dabbas, Bashar, Mcginniss, Matthew J.

“…Abstract SRSF2 is recurrently mutated in a variety of myeloid malignancies, including chronic myelomonocytic leukemia (CMML), myelodysplastic syndrome (MDS),…”
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Functional characterization and targeted correction of ATM mutations identified in Japanese patients with ataxia-telangiectasia by Nakamura, Kotoka, Du, Liutao, Tunuguntla, Rashmi, Fike, Francesca, Cavalieri, Simona, Morio, Tomohiro, Mizutani, Shuki, Brusco, Alfredo, Gatti, Richard A.

“…A recent challenge for investigators studying the progressive neurological disease ataxia‐telangiectasia (A‐T) is to identify mutations whose effects might be…”
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Defective DNA double-strand break repair in pediatric systemic lupus erythematosus by Davies, Robert C., Pettijohn, Kelly, Fike, Francesca, Wang, Jiexi, Nahas, Shareef A., Tunuguntla, Rashmi, Hu, Hailiang, Gatti, Richard A., McCurdy, Deborah

“…Objective Previous reports of cells from patients with systemic lupus erythematosus (SLE) note that repair of single‐strand breaks is delayed, and these…”
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Assessing ‘radiosensitivity’ with kinetic profiles of γ-H2AX, 53BP1 and BRCA1 foci by Martin, Nathan T, Nahas, Shareef A, Tunuguntla, Rashmi, Fike, Francesca, Gatti, Richard A

“…Abstract Background and purpose DNA repair assays to identify radiosensitive patients have had limited clinical implementation due to long turn-around times or…”
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Mutation of Senataxin Alters Disease-Specific Transcriptional Networks in Patients with Ataxia with Oculomotor Apraxia Type 2 (P2.126) by Fogel, Brent, Cho, Ellen, Wahnich, Amanda, Gao, Fuying, Becherel, Olivier, Wang, Xizhe, Fike, Francesca, Chen, Leslie, Criscuolo, Chiara, De Michele, Giuseppe, Filla, Alessandro, Collins, Abigail, Hahn, Angelika, Gatti, Richard, Konopka, Genevieve, Perlman, Susan, Lavin, Martin, Geschwind, Daniel, Coppola, Giovanni

“…Abstract only…”
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Simultaneous presentation of 2 rare hereditary immunodeficiencies: IL-12 receptor beta 1 deficiency and ataxia-telangiectasia by Ehlayel, Mohammad, De Beaucoudrey, Ludovic, Fike, Francesca, Nahas, Shareef A, Feinberg, Jacqueline, Casanova, Jean-Laurent, Gatti, Richard A

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Comprehensive Profiling of Radiosensitive Human Cell Lines with DNA Damage Response Assays Identifies the Neutral Comet Assay as a Potential Surrogate for Clonogenic Survival by Nahas, Shareef A, Davies, Robert, Fike, Francesca, Nakamura, Kotoka, Du, Liutao, Kayali, Refik, Martin, Nathan T, Concannon, Patrick, Gatti, Richard A

“…In an effort to explore the possible causes of human radiosensitivity and identify more rapid assays for cellular radiosensitivity, we interrogated a set of…”
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Simultaneous presentation of 2 rare hereditary immunodeficiencies: IL-12 receptor [beta]1 deficiency and ataxia-telangiectasia by Ehlayel, Mohammad, de Beaucoudrey, Ludovic, Fike, Francesca, Nahas, Shareef A, Feinberg, Jacqueline, Casanova, Jean-Laurent, Gatti, Richard A

“…[...]DNA sequencing revealed homozygosity for the 8395del10 mutation in the ATM gene. Because of the radiosensitivity noted in the patient's B-EBV cell line, 3…”
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