Search Results - "Brown, WT"

Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome by Collins, Francis S, Eriksson, Maria, Brown, W. Ted, Gordon, Leslie B, Glynn, Michael W, Singer, Joel, Scott, Laura, Erdos, Michael R, Robbins, Christiane M, Moses, Tracy Y, Berglund, Peter, Dutra, Amalia, Pak, Evgenia, Durkin, Sandra, Csoka, Antonei B, Boehnke, Michael, Glover, Thomas W

“…Hutchinson-Gilford progeria syndrome (HGPS) is a rare genetic disorder characterized by features reminiscent of marked premature ageing. Here, we present…”
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Impact of Farnesylation Inhibitors on Survival in Hutchinson-Gilford Progeria Syndrome by GORDON, Leslie B, MASSARO, Joe, D'AGOSTINO, Ralph B, CAMPBELL, Susan E, BRAZIER, Joan, BROWN, W. Ted, KLEINMAN, Monica E, KIERAN, Mark W

“…Hutchinson-Gilford progeria syndrome is an ultrarare segmental premature aging disease resulting in early death from heart attack or stroke. There is no…”
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Oxidative stress in autism: Increased lipid peroxidation and reduced serum levels of ceruloplasmin and transferrin - the antioxidant proteins by Chauhan, Abha, Chauhan, Ved, Brown, W. Ted, Cohen, Ira

“…Autism is a neurological disorder of childhood with poorly understood etiology and pathology. We compared lipid peroxidation status in the plasma of children…”
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Decreased GABA A receptor expression in the seizure-prone fragile X mouse by El Idrissi, Abdeslem, Ding, Xiao-Hua, Scalia, Jason, Trenkner, Ekkhart, Brown, W. Ted, Dobkin, Carl

“…The fragile X mental retardation syndrome is due to the transcriptional silence of the fragile X gene, FMR1, and to the resulting loss of the FMR1 product,…”
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Fragile X Premutation Tremor/Ataxia Syndrome: Molecular, Clinical, and Neuroimaging Correlates by Jacquemont, Sébastien, Hagerman, Randi J., Leehey, Maureen, Grigsby, Jim, Zhang, Lin, Brunberg, James A., Greco, Claudia, Des Portes, Vincent, Jardini, Tristan, Levine, Richard, Berry-Kravis, Elizabeth, Brown, W. Ted, Schaeffer, Stephane, Kissel, John, Tassone, Flora, Hagerman, Paul J.

“…We present a series of 26 patients, all >50 years of age, who are carriers of the fragile X premutation and are affected by a multisystem, progressive…”
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Fragile X Premutation Carriers: Characteristic MR Imaging Findings of Adult Male Patients with Progressive Cerebellar and Cognitive Dysfunction by Brunberg, James A, Jacquemont, Sebastien, Hagerman, Randi J, Berry-Kravis, Elizabeth M, Grigsby, Jim, Leehey, Maureen A, Tassone, Flora, Brown, W. Ted, Greco, Claudia M, Hagerman, Paul J

“…Our purpose was to characterize the findings of MR imaging of the brain of adult male fragile X premutation carriers with a recently identified disorder…”
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Expansion of the Fragile X CGG Repeat in Females with Premutation or Intermediate Alleles by Nolin, Sarah L., Brown, W. Ted, Glicksman, Anne, Houck, Jr, George E., Gargano, Alice D., Sullivan, Amy, Biancalana, Valérie, Bröndum-Nielsen, Karen, Hjalgrim, Helle, Holinski-Feder, Elke, Kooy, Frank, Longshore, John, Macpherson, James, Mandel, Jean-Louis, Matthijs, Gert, Rousseau, Francois, Steinbach, Peter, Väisänen, Marja-Leena, von Koskull, Harriet, Sherman, Stephanie L.

“…The CGG repeat in the 5′ untranslated region of the fragile X mental retardation 1 gene (FMR1) exhibits remarkable instability upon transmission from mothers…”
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Autism severity is associated with child and maternal MAOA genotypes by Cohen, IL, Liu, X, Lewis, MES, Chudley, A, Forster-Gibson, C, Gonzalez, M, Jenkins, EC, Brown, WT, Holden, JJA

“…Cohen IL, Liu X, Lewis MES, Chudley A, Forster‐Gibson C, Gonzalez M, Jenkins EC, Brown WT, Holden JJA. Autism severity is associated with child and maternal…”
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Neuropsychiatric symptoms of fragile X syndrome: Pathophysiology and pharmacotherapy by TSIOURIS, John A, BROWN, W. Ted

“…Fragile X syndrome is the leading inherited form of mental retardation, and second only to Down's syndrome as a cause of mental retardation attributable to an…”
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Novel progerin-interactive partner proteins hnRNP E1, EGF, Mel 18, and UBC9 interact with lamin A/C by Zhong, Nanbert, Radu, Gabriel, Ju, Weina, Brown, W. Ted

“…The Hutchinson–Gilford progeria syndrome (HGPS or progeria) is an apparent accelerated aging disorder of childhood. Recently, HGPS has been characterized as…”
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Genetic analysis of first-trimester miscarriages with a combination of cytogenetic karyotyping, microsatellite genotyping and arrayCGH by Zhang, Y-X, Zhang, Y-P, Gu, Y, Guan, F-J, Li, S-L, Xie, J-S, Shen, Y, Wu, B-L, Ju, W, Jenkins, EC, Brown, WT, Zhong, N

“…Miscarriage is the spontaneous loss of an embryo or fetus before the 20th week of pregnancy. Most miscarriages occur before the end of the first trimester (<13…”
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Association of autism severity with a monoamine oxidase A functional polymorphism by Cohen, IL, Liu, X, Schutz, C, White, BN, Jenkins, EC, Brown, WT, Holden, JJA

“…A functional polymorphism (the upstream variable‐number tandem repeat region, or uVNTR) in the monoamine oxidase A (MAOA) promoter region has been reported to…”
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Fmr1 knockout mouse has a distinctive strain-specific learning impairment by Dobkin, Carl, Rabe, Ausma, Dumas, Ruth, El Idrissi, Abdeslem, Haubenstock, Harriet, Ted Brown, W

“…The Fmr1 gene knockout mouse is a model for the human Fragile X mental retardation syndrome. Fmr1 knockout mice with a C57BL/6-129/OlaHsd hybrid background…”
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Apolipoprotein E epsilon 4 allele distributions in late-onset Alzheimer's disease and in other amyloid-forming diseases by Saunders, A M, Schmader, K, Breitner, J C, Benson, M D, Brown, W T, Goldfarb, L, Goldgaber, D, Manwaring, M G, Szymanski, M H, McCown, N

“…The frequency of the allele for apolipoprotein E type 4 (epsilon 4) is increased in late-onset familial and sporadic Alzheimer's disease (AD). We have examined…”
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Increased oxidative stress and decreased activities of Ca2+/Mg2+-ATPase and Na+/K+-ATPase in the red blood cells of the hibernating black bear by Chauhan, Ved P.S., Tsiouris, John A., Chauhan, Abha, Sheikh, Ashfaq M., Brown, W.Ted, Vaughan, Michael

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RNAs That Interact with the Fragile X Syndrome RNA Binding Protein FMRP by Sung, Ying Ju, Conti, James, Currie, Julia R., Brown, W.Ted, Denman, Robert B.

“…The Fragile X protein FMRP is an RNA binding protein whose targets are not well known; yet, these RNAs may play an integral role in the disease's etiology…”
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Metabolism of the 2-oxoaldehyde methylglyoxal by aldose reductase and by glyoxalase-I: roles for glutathione in both enzymes and implications for diabetic complications by Vander Jagt, David L., Hassebrook, Robyn K., Hunsaker, Lucy A., Brown, William M., Royer, Robert E.

“…Numerous physiological aldehydes besides glucose are substrates of aldose reductase, the first enzyme of the polyol pathway which has been implicated in the…”
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Fragile X gene instability: anchoring AGGs and linked microsatellites by Zhong, N, Yang, W, Dobkin, C, Brown, W T

“…Interspersed AGGs within the FMR1 gene CGG repeat region may anchor the sequence and prevent slippage during replication. In order to detect the AGG position…”
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Alteration in amino-glycerophospholipids levels in the plasma of children with autism: A potential biochemical diagnostic marker by Chauhan, Ved, Chauhan, Abha, Cohen, Ira L, Brown, W.Ted, Sheikh, Ashfaq

“…Currently, there is no biochemical test to assist in the behavioral diagnosis of autism. We observed that levels of phosphatidylethanolamine (PE) were…”
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Familial transmission of the FMR1 CGG repeat by NOLIN, S. L, LEWIS, F. A, SHERMAN, S. L, BROWN, W. T, LING LING YE, HOUCK, G. E, GLICKSMAN, A. E, LIMPRASERT, P, SHU YUN LI, ZHONG, N, ASHLEY, A. E, FEINGOLD, E

“…To better define the nature of FMR1 CGG-repeat expansions, changes in allele sizes for 191 families with fragile X and for 33 families with gray-zone repeats…”
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