Search Results - "Frair, E."

PRMT5–PTEN molecular pathway regulates senescence and self-renewal of primary glioblastoma neurosphere cells by Banasavadi-Siddegowda, Y K, Russell, L, Frair, E, Karkhanis, V A, Relation, T, Yoo, J Y, Zhang, J, Sif, S, Imitola, J, Baiocchi, R, Kaur, B

“…Glioblastoma (GBM) represents the most common and aggressive histologic subtype among malignant astrocytoma and is associated with poor outcomes because of…”
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FP.14 Dystrophin and satellite cell quantification in Duchenne and Becker muscular dystrophies by Nicolau, S., Vetter, T., Frair, E., Bradley, A., Flanigan, K.

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684P Complex duplications containing terminal exon duplications in the DMD gene by Meyer, A., Nicolau, S., Dunn, D., Gabel, L., Frair, E., Weiss, R., Flanigan, K.

“…Complex DMD duplications involve two or more non-contiguous exons, which may include the terminal exons. Isolated terminal exon duplications oriented in tandem…”
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DMD - BIOMARKERS: EP.159 Automated immunofluorescence analysis for sensitive and precise dystrophin quantification in muscle biopsies by Vetter, T., Bradley, A., Frair, E., Nicolau, S., Flanigan, K.

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DMD - BIOMARKERS by Vetter, T., Bradley, A., Frair, E., Nicolau, S., Flanigan, K.

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679P Clinical and molecular characterization of DMD pseudo-3’-terminal exons by Frair, E., Nicolau, S., Meyer, A., Vetter, T., Dunn, D., Gabel, L., Waldrop, M., Weiss, R., Flanigan, K.

“…DMD pseudoexon mutations are an underrecognized class of mutations, as they typically require RNA sequencing of muscle tissue for identification. Most are…”
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P.200 Automated quantification of dystrophin immunofluorescence in human and mouse muscle sections by Vetter, T., Bradley, A., Nicolau, S., Frair, E., Gushchina, L., Flanigan, K.

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P12 Comparison of U7snRNA-induced dystrophin expression following systemic delivery with AAV9 and AAVrh74 capsids by Lay, J., Frair, E., Bradley, A., Vetter, T., Rohan, N., Bellinger, C., Waldrop, M., Wein, N., Gushchina, L., Flanigan, K.

“…We have developed a U7snRNA vector that targets DMD exon 2 to result in exclusion of this exon from the mature mRNA. Preclinical studies resulted in…”
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P13 Comparison of U7snRNA-induced dystrophin expression following systemic delivery with AAV9, MyoAAV 2A, and MyoAAV 3A capsids in the Dup2 mouse by Frair, E., Bradley, A., Dufresne, G., Sarff, J., Stevens, K., Rohan, N., Nicolau, S., Vetter, T., Gushchina, L., Flanigan, K.

“…Duplications of DMD exon 2 are the most common duplication mutations causing Duchenne muscular dystrophy. We have developed a vector (scAAV9.U7.ACCA) carrying…”
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DMD – CLINICAL CARE: EP.98 Clinical and molecular characterisation of unusual DMD mutations by Nicolau, S., Vetter, T., Bradley, A., Frair, E., Weiss, R., Flanigan, K.

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DMD – CLINICAL CARE by Nicolau, S., Vetter, T., Bradley, A., Frair, E., Weiss, R., Flanigan, K.

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P284 Gene replacement therapy for telethonin related limb-girdle muscular dystrophy R7 utilizing novel myotrophic AAV capsids by Gushchina, L., Bradley, A., Terry, K., Lay, J., Frair, E., Vetter, T., Rohan, N., Cox, G., Wolfe, S., Emerson, C., Flanigan, K.

“…Telethoninopathy, or LGMDR7, is one of the rarest forms of limb-girdle muscular dystrophy (LGMD), affecting up to 10,000 individuals worldwide, resulting from…”
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O01 Clinical spectrum and molecular features of asymptomatic and paucisymptomatic DMD mutations by Nicolau, S., Meyer, A., Vetter, T., Lowes, L., Alfano, L., Reash, N., Iammarino, M., Frair, E., Tsao, C., Connolly, A., Mendell, J., Waldrop, M., Flanigan, K.

“…In-frame variants in the DMD gene generally cause Becker muscular dystrophy, which ranges in severity from loss of ambulation in the late teenage years to…”
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DMD - TREATMENT: EP.146 scAAV.U7snRNA-mediated therapy: prolonged dystrophin expression and muscle function correction in adult Dup2 mice by Gushchina, L., Bradley, A., Vetter, T., Frair, E., Bellinger, C., Simmons, T., Rohan, N., Wein, N., Flanigan, K.

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DMD - TREATMENT by Gushchina, L., Bradley, A., Vetter, T., Frair, E., Bellinger, C., Simmons, T., Rohan, N., Wein, N., Flanigan, K.

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P.172 AAV-mediated strategy for TCAP gene correction as a new treatment for LGMDR7/LGMD2G dystrophy by Gushchina, L., Bradley, B., Terry, K., Casey, S., Petrykowski, B., Lay, J., Frair, E., Vetter, T., Rohan, N., Cox, G., Wolfe, S., Emerson, C., Flanigan, K.

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DMD – ANIMAL MODELS & PRECLINICAL TREATMENT by Gushchina, L., Frair, E., Rohan, N., Bradley, A., Simmons, T., Chavan, H., Waldrop, M., Wein, N., Flanigan, K.

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DMD – ANIMAL MODELS & PRECLINICAL TREATMENT: P.212 Systemic delivery of PPMO restores the full-length dystrophin protein in the Dup2 Mouse by Gushchina, L., Grounds, K., Frair, E., Huang, N., Schnell, F., Hanson, G., Simmons, T., Wein, N., Flanigan, K.

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DMD – ANIMAL MODELS & PRECLINICAL TREATMENT by Gushchina, L., Grounds, K., Frair, E., Huang, N., Schnell, F., Hanson, G., Simmons, T., Wein, N., Flanigan, K.

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DMD – ANIMAL MODELS & PRECLINICAL TREATMENT: P.213 Absence of toxicity with intravenous dosing of the Exon 2-skipping AAV9.U7-ACCA vector in non-human primates by Gushchina, L., Frair, E., Rohan, N., Bradley, A., Simmons, T., Chavan, H., Waldrop, M., Wein, N., Flanigan, K.

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