Search Results - "Prior, T W"

Mutant small heat shock protein B3 causes motor neuropathy: Utility of a candidate gene approach by KOLB, S. J, SNYDER, P. J, KISSEL, J. T, PRIOR, T. W, POI, E. J, RENARD, E. A, BARTLETT, A, GU, S, SUTTON, S, ARNOLD, W. D, FREIMER, M. L, LAWSON, V. H

“…Idiopathic peripheral neuropathy is common and likely due to genetic factors that are not detectable using standard linkage analysis. We initiated a candidate…”
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PTEN mosaicism with features of Cowden syndrome by Gammon, A, Jasperson, K, Pilarski, R, Prior, TW, Kuwada, S

“…We present the first known case of somatic PTEN mosaicism causing features of Cowden syndrome (CS) and inheritance in the subsequent generation. A 20‐year‐old…”
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A Single Nucleotide Difference That Alters Splicing Patterns Distinguishes the SMA Gene SMN1 From the Copy Gene SMN2 by Monani, Umrao R., Lorson, Christian L., Parsons, D. William, Prior, Thomas W., Androphy, Elliot J., Burghes, Arthur H. M., McPherson, John D.

“…Spinal muscular atrophy (SMA) is a recessive disorder characterized by loss of motor neurons in the spinal cord. It is caused by mutations in the telomeric…”
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The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in Smn-/- mice and results in a mouse with spinal muscular atrophy by MONANI, U. R, SENDTNER, M, MORRIS, G. E, BURGHES, A. H. M, COOVERT, D. D, PARSONS, D. W, ANDREASSI, C, LE, T. T, JABLONKA, S, SCHRANK, B, ROSSOL, W, PRIOR, T. W

“…Proximal spinal muscular atrophy (SMA) is a common motor neuron disease in humans and in its most severe form causes death by the age of 2 years. It is caused…”
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Diagnosis of Duchenne dystrophy by enhanced detection of small mutations by Mendell, J R, Buzin, C H, Feng, J, Yan, J, Serrano, C, Sangani, D S, Wall, C, Prior, T W, Sommer, S S

“…To determine whether detection of small mutations of the dystrophin gene can be increased using an enhanced method of single-strand conformation polymorphism…”
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The Survival Motor Neuron Protein in Spinal Muscular Atrophy by Coovert, Daniel D., Le, Thanh T., McAndrew, Patricia E., Strasswimmer, John, Crawford, Thomas O., Mendell, Jerry R., Coulson, Susan E., Androphy, Elliot J., Prior, Thomas W., Burghes, Arthur H. M.

“…The 38 kDa survival motor neuron (SMN) protein is encoded by two ubiquitously expressed genes: telomeric SMN (SMNT) and centromeric SMN (SMNC). Mutations in…”
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Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number by MCANDREW, P. E, PARSONS, D. W, SIMARD, L. R, ROCHETTE, C, RAY, P. N, MENDELL, J. R, PRIOR, T. W, BURGHES, A. H. M

“…The survival motor neuron (SMN) transcript is encoded by two genes, SMNT and SMNC. The autosomal recessive proximal spinal muscular atrophy that maps to 5q12…”
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A placebo-controlled trial of gabapentin in spinal muscular atrophy by Miller, R.G., Moore, D.H., Dronsky, V., Bradley, W., Barohn, R., Bryan, W., Prior, T.W., Gelinas, D.F., Iannaccone, S., Kissel, J., Leshner, R., Mendell, J., Mendoza, M., Russman, B., Samaha, F., Smith, S.

“…Objective: To evaluate the efficacy of gabapentin in increasing muscle strength of patients with spinal muscular atrophy (SMA). Background: Preclinical data in…”
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Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome clinical features by Pilarski, Robert, Stephens, Julie A, Noss, Ryan, Fisher, James L, Prior, Thomas W

“…Cowden syndrome (CS) is associated with benign hamartomatous lesions and risks for thyroid, breast and endometrial cancers. Bannayan-Riley-Ruvalcaba syndrome…”
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Intragenic telSMN Mutations: Frequency, Distribution, Evidence of a Founder Effect, and Modification of the Spinal Muscular Atrophy Phenotype by cenSMN Copy Number by Parsons, D.W., McAndrew, P.E., Iannaccone, S.T., Mendell, J.R., Burghes, A.H.M., Prior, T.W.

“…The autosomal recessive neuromuscular disorder proximal spinal muscular atrophy (SMA) is caused by the loss or mutation of the survival motor neuron (SMN)…”
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Myoblast Transfer in the Treatment of Duchenne's Muscular Dystrophy by Mendell, Jerry R, Kissel, John T, Amato, Anthony A, King, Wendy, Signore, Linda, Prior, Thomas W, Sahenk, Zarife, Benson, Sandra, McAndrew, Patricia E, Rice, Robert, Nagaraja, Haikady, Stephens, Ralph, Lantry, Laura, Morris, Glen E, Burghes, Arthur H.M

“…Duchenne's muscular dystrophy is an X-linked disorder caused by deficiency of the protein dystrophin. 1 , 2 In animals, myoblast transfer was shown to be a…”
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Diagnostic and prognostic value of glycosyltransferase mRNA in glioblastoma multiforme patients by Oblinger, J. L., Pearl, D. K., Boardman, C. L., Saqr, H., Prior, T. W., Scheithauer, B. W., Jenkins, R. B., Burger, P. C., Yates, A. J.

“…Glioblastoma multiforme (GBM) is the most common and aggressive primary human brain tumour in adults with an average survival of 11 months. The 2‐year survival…”
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Polymorphic Variation at the BAT-25 and BAT-26 Loci in Individuals of African Origin : Implications for Microsatellite Instability Testing by Pyatt, Robert, Chadwick, Robert B, Johnson, Cheryl K, Adebamowo, Clement, de la Chapelle, Albert, Prior, Thomas W

“…Instability in the repeat size of microsatellite sequences has been described in both hereditary nonpolyposis and sporadic colorectal cancers. Tumors…”
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An 11 Base Pair Duplication in Exon 6 of the SMN Gene Produces a Type I Spinal Muscular Atrophy (SMA) Phenotype: Further Evidence For SMN as the Primary SMA-Determining Gene by Parsons, D. Williams, McAndrew, Patricia E., Monani, Umrao R., Mendell, Jerry R., Burghes, Arthur H. M., Prior, Thomas W.

“…The gene for autosomal recessive spinal muscular atrophy (SMA) has been mapped to 5q12 in a region that contains repeated markers and genes. Three cDNAs that…”
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The I1307K polymorphism of the APC gene in colorectal cancer by Prior, Thomas W., Chadwick, Robert B., Papp, Audrey C., Arcot, Anuradha N., Isa, Alexandra M., Pearl, Dennis K., Stemmermann, Grant, Percesepe, Antonio, Loukola, Anu, Aaltonen, Lauri A., de la Chapelle, Albert

“…Background & Aims: Colorectal cancer is one of the most frequent cancers in humans. Recently, a germline missense mutation, I1307K, was identified in the…”
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Spectrum of small mutations in the dystrophin coding region by PRIOR, T. W, BARTOLO, C, PEARL, D. K, PAPP, A. C, SNYDER, P. J, SEDRA, M. S, BURGHES, A. H. M, MENDELL, J. R

“…Duchenne and Becker muscular dystrophies (DMD and BMD) are caused by defects in the dystrophin gene. About two-thirds of the affected patients have large…”
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Kennedy's disease : a clinicopathologic correlation with mutations in the androgen receptor gene by AMATO, A. A, PRIOR, T. W, BAROHN, R. J, SNYDER, P, PAPP, A, MENDELL, J. R

“…We confirmed a mutation of the androgen receptor gene as the cause for Kennedy's disease, also called "X-linked recessive spinal and bulbar muscular atrophy"…”
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Sphingosine Kinase-1 Expression Correlates With Poor Survival of Patients With Glioblastoma Multiforme: Roles of Sphingosine Kinase Isoforms in Growth of Glioblastoma Cell Lines by Van Brocklyn, James R, Jackson, Catherine A, Pearl, Dennis K, Kotur, Mark S, Snyder, Pamela J, Prior, Thomas W

“…Sphingosine-1-phosphate is a bioactive lipid that is mitogenic for human glioma cell lines by signaling through its G protein-coupled receptors. We…”
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Deletion and conversion in spinal muscular atrophy patients: is there a relationship to severity? by DiDonato, C J, Ingraham, S E, Mendell, J R, Prior, T W, Lenard, S, Moxley, 3rd, R T, Florence, J, Burghes, A H

“…The spinal muscular atrophy-determining gene, survival motor neuron (SMN), is present in two copies, telSMN and cenSMN, which can be distinguished by base-pair…”
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Diagnosis of spinal muscular atrophy in an SMN non-deletion patient using a quantitative PCR screen and mutation analysis by Parsons, D W, McAndrew, P E, Allinson, P S, Parker, W D, Burghes, A H, Prior, T W

“…We report a child with clinical findings consistent with Werdnig-Hoffmann disease (spinal muscular atrophy type I) who was found not to have the homozygous…”
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