Search Results - "Gusella, J"

Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders by Miller, D T, Shen, Y, Weiss, L A, Korn, J, Anselm, I, Bridgemohan, C, Cox, G F, Dickinson, H, Gentile, J, Harris, D J, Hegde, V, Hundley, R, Khwaja, O, Kothare, S, Luedke, C, Nasir, R, Poduri, A, Prasad, K, Raffalli, P, Reinhard, A, Smith, S E, Sobeih, M M, Soul, J S, Stoler, J, Takeoka, M, Tan, W-H, Thakuria, J, Wolff, R, Yusupov, R, Gusella, J F, Daly, M J, Wu, B-L

“…Segmental duplications at breakpoints (BP4-BP5) of chromosome 15q13.2q13.3 mediate a recurrent genomic imbalance syndrome associated with mental retardation,…”
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Role of common and rare APP DNA sequence variants in Alzheimer disease by Hooli, B V, Mohapatra, G, Mattheisen, M, Parrado, A R, Roehr, J T, Shen, Y, Gusella, J F, Moir, R, Saunders, A J, Lange, C, Tanzi, R E, Bertram, L

“…More than 30 different rare mutations, including copy number variants (CNVs), in the amyloid precursor protein gene (APP) cause early-onset familial Alzheimer…”
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Factors associated with HD CAG repeat instability in Huntington disease by Wheeler, V C, Persichetti, F, McNeil, S M, Mysore, J S, Mysore, S S, MacDonald, M E, Myers, R H, Gusella, J F, Wexler, N S

“…Background:The Huntington disease (HD) CAG repeat exhibits dramatic instability when transmitted to subsequent generations. The instability of the HD disease…”
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Rapid Induction of Alzheimer Aβ Amyloid Formation by Zinc by Bush, Ashley I., Pettingell, Warren H., Multhaup, Gerd, Paradis, Marc d., Vonsattel, Jean-Paul, Gusella, James F., Beyreuther, Konrad, Masters, Colin L., Tanzi, Rudolph E.

“…A$\beta_{1-40}$, a major component of Alzheimer's disease cerebral amyloid, is present in the cerebrospinal fluid and remains relatively soluble at high…”
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Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities by Hodge, J C, Mitchell, E, Pillalamarri, V, Toler, T L, Bartel, F, Kearney, H M, Zou, Y S, Tan, W H, Hanscom, C, Kirmani, S, Hanson, R R, Skinner, S A, Rogers, R C, Everman, D B, Boyd, E, Tapp, C, Mullegama, S V, Keelean-Fuller, D, Powell, C M, Elsea, S H, Morton, C C, Gusella, J F, DuPont, B, Chaubey, A, Lin, A E, Talkowski, M E

“…Microdeletions of chromosomal region 2q23.1 that disrupt MBD5 (methyl-CpG-binding domain protein 5) contribute to a spectrum of neurodevelopmental phenotypes;…”
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BDNF, relative preference, and reward circuitry responses to emotional communication by Gasic, G.P., Smoller, J.W., Perlis, R.H., Sun, M., Lee, S., Kim, B.W., Lee, M.J., Holt, D.J., Blood, A.J., Makris, N., Kennedy, D.K., Hoge, R.D., Calhoun, J., Fava, M., Gusella, J.F., Breiter, H.C.

“…Brain derived neurotrophic factor (BDNF) regulates neural development and synaptic transmission. We have tested the hypothesis that functional variation in the…”
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Mice heterozygous for a mutation at the Nf2 tumor suppressor locus develop a range of highly metastatic tumors by McClatchey, A I, Saotome, I, Mercer, K, Crowley, D, Gusella, J F, Bronson, R T, Jacks, T

“…A role for the membrane/cytoskeleton interface in the development and progression of cancer is established, yet poorly understood. The neurofibromatosis type…”
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A single nucleotide polymorphism in the matrix metalloproteinase-1 promoter creates an Ets binding site and augments transcription by RUTTER, J. L, MITCHELL, T. I, BUTTICE, G, MEYERS, J, GUSELLA, J. F, OZELIUS, L. J, BRINCKERHOFF, C. E

“…Matrix metalloproteinases (MMPs) facilitate cellular invasion by degrading the extracellular matrix, and their regulation is partially dependent on…”
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Interaction of normal and expanded CAG repeat sizes influences age at onset of Huntington disease by Djoussé, L., Knowlton, B., Hayden, M., Almqvist, E.W., Brinkman, R., Ross, C., Margolis, R., Rosenblatt, A., Durr, A., Dode, C., Morrison, P.J., Novelletto, A., Frontali, M., Trent, R.J.A., McCusker, E., Gómez-Tortosa, E., Mayo, D., Jones, R., Zanko, A., Nance, M., Abramson, R., Suchowersky, O., Paulsen, J., Harrison, M., Yang, Q., Cupples, L.A., Gusella, J.F., MacDonald, M.E., Myers, R.H.

“…Huntington disease (HD) is a neurodegenerative disorder caused by the abnormal expansion of CAG repeats in the HD gene on chromosome 4p16.3. Past studies have…”
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Haplotypes and gene expression implicate the MAPT region for Parkinson disease : The GenePD Study by TOBIN, J. E, LATOURELLE, J. C, RACETTE, B. A, PERLMUTTER, J. S, WATTS, R, GUTTMAN, M, BAKER, K. B, GOLDWURM, S, PEZZOLI, G, SINGER, C, SAINT-HILAIRE, M. H, HENDRICKS, A. E, LEW, M. F, WILLIAMSON, S, NAGLE, M. W, WILK, J. B, MASSOOD, T, LARAMIE, J. M, DESTEFANO, A. L, LITVAN, I, NICHOLSON, G, CORBETT, A, ISAACSON, S, KLEIN, C, BURN, D. J, CHINNERY, P. F, PRAMSTALLER, P. P, SHERMAN, S, AL-HINTI, J, DRASBY, E, NANCE, M, MOLLER, A. T, OSTERGAARD, K, ROXBURGH, R, SUCHOWERSKY, O, SNOW, B, SLEVIN, J. T, CAMBI, F, GUSELLA, J. F, MYERS, R. H, SHILL, H. A, GOLBE, Li, MARK, M. H, GROWDON, J. H, WOOTEN, G. F

“…Microtubule-associated protein tau (MAPT) has been associated with several neurodegenerative disorders including forms of parkinsonism and Parkinson disease…”
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Huntingtin Interacts with a Family of WW Domain Proteins by Faber, Peter W., Barnes, Glenn T., Srinidhi, Jayalakshmi, Chen, Jianmin, Gusella, James F., MacDonald, Marcy E.

“…The hallmark neuropathology of Huntington's disease (HD) is due to elongation of a polyglutamine segment in huntingtin, a novel ∼350 kDa protein of unknown…”
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CAG repeat number governs the development rate of pathology in Huntington's disease by Penney, Jr, J B, Vonsattel, J P, MacDonald, M E, Gusella, J F, Myers, R H

“…We compared the number of CAG repeats, the age at death, and the severity of neuropathology in 89 Huntington's disease brains. We found a linear correlation…”
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E01 CAG Repeat Length Predicts Rate of Striatal Atrophy, but Relationship is Nonlinear by Aylward, E, Long, JD, MacDonald, ME, Lee, J-M, Paulsen, J, Gusella, J

“…Background Previous cross-sectional and longitudinal research suggests that HD clinical progression and striatal atrophy occur at a faster rate in individuals…”
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Huntingtin is required for neurogenesis and is not impaired by the Huntington's disease CAG expansion by White, Jacqueline K, Auerbach, Wojtek, Duyao, Mabel P, Vonsattel, Jean-Paul, Gusella, James F, Joyner, Alexandra L, MacDonald, Marcy E

“…Huntington's disease (HD) is an autosomal-dominant neurodegenerative disorder caused by a CAG repeat expansion that lengthens a glutamine segment in the novel…”
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Length-Dependent Gametic CAG Repeat Instability in the Huntington's Disease Knock-in Mouse by Wheeler, Vanessa C., Auerbach, Wojtek, White, Jacqueline K., Srinidhi, Jayalakshmi, Auerbach, Anna, Ryan, Angela, Duyao, Mabel P., Vrbanac, Vladimir, Weaver, Meredith, Gusella, James F., Joyner, Alexandra L., MacDonald, Marcy E.

“…The CAG repeats in the human Huntington's disease (HD) gene exhibit striking length-dependent intergenerational instability, typically small size increases or…”
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Hypogonadotropic hypogonadism and cleft lip and palate caused by a balanced translocation producing haploinsufficiency for FGFR1 by Kim, HG, Herrick, S R, Lemyre, E, Kishikawa, S, Salisz, J A, Seminara, S, MacDonald, M E, Bruns, G A P, Morton, C C, Quade, B J, Gusella, J F

“…Hybridisation of labelled fragments was done in the presence of excess herring sperm competitor DNA, and hybridised membranes were washed at 60°C with 0.15 M…”
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Germ-line mutations in the neurofibromatosis 2 gene : Correlations with disease severity and retinal abnormalities by PARRY, D. M, MACCOLLIN, M. M, KAISER-KUPFER, M. I, PULASKI, K, NICHOLSON, H. S, BOLESTA, M, ELDRIDGE, R, GUSELLA, J. F

“…Neurofibromatosis 2 (NF2) features bilateral vestibular schwannomas, other benign neural tumors, and cataracts. Patients in some families develop many tumors…”
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Expression of SMARCB1 (INI1) mutations in familial schwannomatosis by SMITH, Miriam J, WALKER, James A, YIPING SHEN, STEMMER-RACHAMIMOV, Anat, GUSELLA, James F, PLOTKIN, Scott R

“…Genetic changes in the SMARCB1 tumor suppressor gene have recently been reported in tumors and blood from families with schwannomatosis. Exon scanning of all…”
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BDNF genetic variants are associated with onset age of familial Parkinson disease : GenePD Study by KARAMOHAMED, S, LATOURELLE, J. C, GUTTMAN, M, NICHOLSON, G, WILK, J. B, SAINT-HILAIRE, M, DESTEFANO, A. L, PRAKASH, R, TOBIN, S, WILLIAMSON, J, SUCHOWERSKY, O, LABELL, N, RACETTE, B. A, GROWDON, B. N. J, SINGER, C, WATTS, R, GOLDWURM, S, PEZZOLI, G, BAKER, K. B, GIROUX, M. L, PRAMSTALLER, P. P, BURN, D. J, CHINNERY, P, PERLMUTTER, J. S, SHERMAN, S, VIEREGGE, P, LITVAN, I, GUSELLA, J. F, MYERS, R. H, PARSIAN, A, WOOTEN, G. F, LEW, M, KLEIN, C, SHILL, H, GOLBE, L. I, MARK, M. H

“…Brain-derived neurotrophic factor (BDNF) stimulates neuronal growth and protects nigral dopamine neurons in animal models of Parkinson disease (PD). Therefore,…”
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Inactivation of the Mouse Huntington's Disease Gene Homolog Hdh by Duyao, Mabel P., Auerbach, Anna B., Ryan, Angela, Persichetti, Francesca, Barnes, Glenn T., McNeil, Sandra M., Ge, Pei, Vonsattel, Jean-Paul, Gusella, James F., Joyner, Alexandra L., MacDonald, Marcy E.

“…Huntington's disease (HD) is a dominant neurodegenerative disorder caused by expansion of a CAG repeat in the gene encoding huntingtin, a protein of unknown…”
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