Browsing by Author "Gusella, James"

Now showing items 1-20 of 25

    • Candidate glutamatergic and dopaminergic pathway gene variants do not influence Huntington’s disease motor onset 

      Ramos, Eliana Marisa; Latourelle, Jeanne C.; Gillis, Tammy; Mysore, Jayalakshmi S.; Squitieri, Ferdinando; Di Pardo, Alba; Di Donato, Stefano; Gellera, Cinzia; Hayden, Michael R.; Morrison, Patrick J.; Nance, Martha; Ross, Christopher A.; Margolis, Russell L.; Gomez-Tortosa, Estrella; Ayuso, Carmen; Suchowersky, Oksana; Trent, Ronald J.; McCusker, Elizabeth; Novelletto, Andrea; Frontali, Marina; Jones, Randi; Ashizawa, Tetsuo; Frank, Samuel; Saint-Hilaire, Marie-Helene; Hersch, Steven M.; Rosas, Herminia D.; Lucente, Diane; Harrison, Madaline B.; Zanko, Andrea; Abramson, Ruth K.; Marder, Karen; Gusella, James F.; Lee, Jong-Min; Alonso, Isabel; Sequeiros, Jorge; Myers, Richard H.; MacDonald, Marcy E. (Springer Berlin Heidelberg, 2013)
      Huntington’s disease (HD) is a neurodegenerative disorder characterized by motor, cognitive, and behavioral disturbances. It is caused by the expansion of the HTT CAG repeat, which is the major determinant of age at onset ...

    • Complex Reorganization and Predominant Non-Homologous Repair Following Chromosomal Breakage in Karyotypically Balanced Germline Rearrangements and Transgenic Integration 

      Chiang, Colby; Jacobsen, Jessie C.; Ernst, Carl; Hanscom, Carrie; Heilbut, Adrian; Blumenthal, Ian; Mills, Ryan E.; Kirby, Andrew; Rudiger, Skye R.; McLaughlan, Clive J.; Bawden, C. Simon; Reid, Suzanne J.; Faull, Richard L. M.; Snell, Russell G.; Hall, Ira M.; Ohsumi, Toshiro K.; Shen, Yiping; Borowsky, Mark L; Daly, Mark Joseph; Lee, Charles; Morton, Cynthia Casson; MacDonald, Marcy Elizabeth; Gusella, James Francis; Talkowski, Michael Edward; Lindgren, Amelia M. (Nature Publishing Group, 2012)
      We defined the genetic landscape of balanced chromosomal rearrangements at nucleotide resolution by sequencing 141 breakpoints from cytogenetically-interpreted translocations and inversions. We confirm that the recently ...

    • Engineering microdeletions and microduplications by targeting segmental duplications with CRISPR 

      Tai, Derek J. C.; Ragavendran, Ashok; Manavalan, Poornima; Stortchevoi, Alexei; Seabra, Catarina M.; Erdin, Serkan; Collins, Ryan L.; Blumenthal, Ian; Chen, Xiaoli; Shen, Yiping; Sahin, Mustafa; Zhang, Chengsheng; Lee, Charles; Gusella, James F.; Talkowski, Michael E. (2016)
      Recurrent, reciprocal genomic disorders resulting from non-allelic homologous recombination (NAHR) between near-identical segmental duplications (SDs) are a major cause of human disease, often producing phenotypically ...

    • Genome-wide Significance for a Modifier of Age at Neurological Onset in Huntington's Disease at 6q23-24: The HD MAPS Study 

      Li, Jian-Liang; Hayden, Michael R; Warby, Simon C; Durr, Alexandra; Morrison, Patrick J; Nance, Martha; Ross, Christopher A; Margolis, Russell L; Rosenblatt, Adam; Squitieri, Ferdinando; Frati, Luigi; Gómez-Tortosa, Estrella; García, Carmen Ayuso; Suchowersky, Oksana; Klimek, Mary Lou; Trent, Ronald JA; McCusker, Elizabeth; Novelletto, Andrea; Frontali, Marina; Paulsen, Jane S; Jones, Randi; Ashizawa, Tetsuo; Lazzarini, Alice; Prakash, Ranjana; Djoussé, Luc; Mysore, Jayalakshmi Srinidhi; Gillis, Tammy; Hakky, Michael; Cupples, L Adrienne; Saint-Hilaire, Marie H; Penney, John B; Harrison, Madaline B; Perlman, Susan L; Zanko, Andrea; Abramson, Ruth K; Lechich, Anthony J; Duckett, Ayana; Marder, Karen; Conneally, P Michael; Wheeler, Vanessa Chantal; Xu, Gang; Cha, Jang-Ho J.; Hersch, Steven M.; Gusella, James Francis; MacDonald, Marcy Elizabeth; Myers, Richard Hepworth (BioMed Central, 2006)
      Background: Age at onset of Huntington's disease (HD) is correlated with the size of the abnormal CAG repeat expansion in the HD gene; however, several studies have indicated that other genetic factors also contribute to ...

    • Genomewide Association Study for Onset Age in Parkinson Disease 

      Latourelle, Jeanne C; Pankratz, Nathan; Dumitriu, Alexandra; Wilk, Jemma B; Goldwurm, Stefano; Pezzoli, Gianni; Mariani, Claudio B; DeStefano, Anita L; Halter, Cheryl; Nichols, William C; Foroud, Tatiana; Gusella, James Francis; Myers, Richard Hepworth (BioMed Central, 2009)
      Background: Age at onset in Parkinson disease (PD) is a highly heritable quantitative trait for which a significant genetic influence is supported by multiple segregation analyses. Because genes associated with onset age ...

    • Genomic profiling distinguishes familial multiple and sporadic multiple meningiomas 

      Engler, David A; Roy, Jennifer; Shen, Yiping; Nunes, Fabio Pereira; Stemmer-Rachamimov, Anat; James, Marianne F.; Mohapatra, Gayatry; Plotkin, Scott Randall; Betensky, Rebecca Aubrey; Ramesh, Vijaya; Gusella, James Francis (BioMed Central, 2009)
      Background: Meningiomas may occur either as familial tumors in two distinct disorders, familial multiple meningioma and neurofibromatosis 2 (NF2), or sporadically, as either single or multiple tumors in individuals with ...

    • The Gly2019Ser Mutation in LRRK2 is not Fully Penetrant in Familial Parkinson's Disease: The GenePD Study 

      Latourelle, Jeanne C; Lew, Mark F; Suchowersky, Oksana; Klein, Christine; Golbe, Lawrence I; Mark, Margery H; Wooten, G Frederick; Watts, Ray L; Guttman, Mark; Racette, Brad A; Perlmutter, Joel S; Ahmed, Anwar; Shill, Holly A; Singer, Carlos; Goldwurm, Stefano; Pezzoli, Gianni; Zini, Michela; Saint-Hilaire, Marie H; Hendricks, Audrey E; Williamson, Sally; Nagle, Michael W; Wilk, Jemma B; Massood, Tiffany; Huskey, Karen W; Laramie, Jason M; DeStefano, Anita L; Baker, Kenneth B; Itin, Ilia; Litvan, Irene; Nicholson, Garth; Corbett, Alastair; Nance, Martha; Drasby, Edward; Isaacson, Stuart; Burn, David J; Chinnery, Patrick F; Pramstaller, Peter P; Al-hinti, Jomana; Moller, Anette T; Ostergaard, Karen; Roxburgh, Richard; Snow, Barry; Slevin, John T; Cambi, Franca; Growdon, John Herbert; Gusella, James Francis; Sun, Mei; Sherman, Scott J; Myers, Richard Hepworth (BioMed Central, 2008)
      Background: We report age-dependent penetrance estimates for leucine-rich repeat kinase 2 (LRRK2)-related Parkinson's disease (PD) in a large sample of familial PD. The most frequently seen LRRK2 mutation, Gly2019Ser ...

    • HD CAGnome: A Search Tool for Huntingtin CAG Repeat Length-Correlated Genes 

      Galkina, Ekaterina I.; Shin, Aram; Coser, Kathryn R.; Shioda, Toshi; Kohane, Isaac S.; Seong, Ihn Sik; Wheeler, Vanessa C.; Gusella, James F.; MacDonald, Marcy E.; Lee, Jong-Min (Public Library of Science, 2014)
      Background: The length of the huntingtin (HTT) CAG repeat is strongly correlated with both age at onset of Huntington’s disease (HD) symptoms and age at death of HD patients. Dichotomous analysis comparing HD to controls ...

    • A high-throughput kinome screen reveals serum/glucocorticoid-regulated kinase 1 as a therapeutic target for NF2-deficient meningiomas 

      Beauchamp, Roberta L.; James, Marianne; DeSouza, Patrick A.; Wagh, Vilas; Zhao, Wen-Ning; Jordan, Justin Thomas; Stemmer-Rachamimov, Anat; Plotkin, Scott Randall; Gusella, James Francis; Haggarty, Stephen John; Ramesh, Vijaya (Impact Journals, LLC, 2015)
      Meningiomas are the most common primary intracranial adult tumor. All Neurofibromatosis 2 (NF2)-associated meningiomas and ~60% of sporadic meningiomas show loss of NF2 tumor suppressor protein. There are no effective ...

    • Huntingtin Facilitates Polycomb Repressive Complex 2 

      Woda, Juliana M.; Song, Ji-Joon; Lloret, Alejandro; Abeyrathne, Priyanka D.; Gregory, Gillian; Lee, Jong-Min; Conlon, Ronald A.; Seong, Ihn Sik; Woo, Caroline; Wheeler, Vanessa Chantal; Walz, Thomas; Kingston, Robert Edward; Gusella, James Francis; MacDonald, Marcy Elizabeth (Oxford University Press, 2009)
      Huntington's disease (HD) is caused by expansion of the polymorphic polyglutamine segment in the huntingtin protein. Full-length huntingtin is thought to be a predominant HEAT repeat α-solenoid, implying a role as a ...

    • KCTD13 is a Major Driver of Mirrored Neuroanatomical Phenotypes Associated with the 16p11.2 CNV 

      Golzio, Christelle; Willer, Jason; Oh, Edwin C; Taniguchi, Yu; Jacquemont, Sébastien; Reymond, Alexandre; Sun, Mei; Sawa, Akira; Kamiya, Atsushi; Beckmann, Jacques S; Katsanis, Nicholas; Talkowski, Michael Edward; Gusella, James Francis (Nature Publishing Group, 2012)
      Copy number variants (CNVs) are major contributors to genetic disorders1. We have dissected a region of the 16p11.2 chromosome—which encompasses 29 genes—that confers susceptibility to neurocognitive defects when deleted ...

    • Lack of Association of Rare Functional Variants in TSC1/TSC2 Genes with Autism Spectrum Disorder 

      Bahl, Samira; Chiang, Colby; Beauchamp, Roberta L; Neale, Benjamin Michael; Daly, Mark Joseph; Gusella, James Francis; Talkowski, Michael Edward; Ramesh, Vijaya (BioMed Central, 2013)
      Background: Autism spectrum disorder (ASD) is reported in 30 to 60% of patients with tuberous sclerosis complex (TSC) but shared genetic mechanisms that exist between TSC-associated ASD and idiopathic ASD have yet to be ...

    • MATR3 disruption in human and mouse associated with bicuspid aortic valve, aortic coarctation and patent ductus arteriosus 

      Quintero-Rivera, Fabiola; Xi, Qiongchao J.; Keppler-Noreuil, Kim M.; Lee, Ji Hyun; Higgins, Anne W.; Anchan, Raymond M.; Roberts, Amy E.; Seong, Ihn Sik; Fan, Xueping; Lage, Kasper; Lu, Lily Y.; Tao, Joanna; Hu, Xuchen; Berezney, Ronald; Gelb, Bruce D.; Kamp, Anna; Moskowitz, Ivan P.; Lacro, Ronald V.; Lu, Weining; Morton, Cynthia C.; Gusella, James F.; Maas, Richard L. (Oxford University Press, 2015)
      Cardiac left ventricular outflow tract (LVOT) defects represent a common but heterogeneous subset of congenital heart disease for which gene identification has been difficult. We describe a 46,XY,t(1;5)(p36.11;q31.2)dn ...

    • Mediator Subunit Med28 Is Essential for Mouse Peri-Implantation Development and Pluripotency 

      Li, Lin; Walsh, Ryan M.; Wagh, Vilas; James, Marianne F.; Beauchamp, Roberta L.; Chang, Yuh-Shin; Gusella, James F.; Hochedlinger, Konrad; Ramesh, Vijaya (Public Library of Science, 2015)
      The multi-subunit mammalian Mediator complex acts as an integrator of transcriptional regulation by RNA Polymerase II, and has emerged as a master coordinator of development and cell fate determination. We previously ...

    • Metabolic disruption identified in the Huntington’s disease transgenic sheep model 

      Handley, Renee. R.; Reid, Suzanne J.; Patassini, Stefano; Rudiger, Skye R.; Obolonkin, Vladimir; McLaughlan, Clive. J.; Jacobsen, Jessie C.; Gusella, James F.; MacDonald, Marcy E.; Waldvogel, Henry J.; Bawden, C. Simon; Faull, Richard L. M.; Snell, Russell G. (Nature Publishing Group, 2016)
      Huntington’s disease (HD) is a dominantly inherited, progressive neurodegenerative disorder caused by a CAG repeat expansion within exon 1 of HTT, encoding huntingtin. There are no therapies that can delay the progression ...

    • MicroRNAs Located in the Hox Gene Clusters Are Implicated in Huntington's Disease Pathogenesis 

      Hoss, Andrew G.; Kartha, Vinay K.; Dong, Xianjun; Latourelle, Jeanne C.; Dumitriu, Alexandra; Hadzi, Tiffany C.; MacDonald, Marcy E.; Gusella, James F.; Akbarian, Schahram; Chen, Jiang-Fan; Weng, Zhiping; Myers, Richard H. (Public Library of Science, 2014)
      Transcriptional dysregulation has long been recognized as central to the pathogenesis of Huntington's disease (HD). MicroRNAs (miRNAs) represent a major system of post-transcriptional regulation, by either preventing ...

    • miR-10b-5p expression in Huntington’s disease brain relates to age of onset and the extent of striatal involvement 

      Hoss, Andrew G; Labadorf, Adam; Latourelle, Jeanne C; Kartha, Vinay K; Hadzi, Tiffany C; Gusella, James F; MacDonald, Marcy E; Chen, Jiang-Fan; Akbarian, Schahram; Weng, Zhiping; Vonsattel, Jean Paul; Myers, Richard H (BioMed Central, 2015)
      Background: MicroRNAs (miRNAs) are small non-coding RNAs that recognize sites of complementarity of target messenger RNAs, resulting in transcriptional regulation and translational repression of target genes. In Huntington’s ...

    • Modeling NF2 with human arachnoidal and meningioma cell culture systems: NF2 silencing reflects the benign character of tumor growth 

      James, Marianne; Lelke, Johanna M.; MacCollin, Mia; Plotkin, Scott Randall; Stemmer-Rachamimov, Anat; Ramesh, Vijaya; Gusella, James Francis (Elsevier BV, 2008)
      Meningiomas, common tumors arising from arachnoidal cells of the meninges, may occur sporadically, or in association with the inherited disorder, neurofibromatosis 2 (NF2). Most sporadic meningiomas result from NF2 ...

    • NF2/Merlin Is a Novel Negative Regulator of mTOR Complex 1, and Activation of mTORC1 Is Associated with Meningioma and Schwannoma Growth 

      James, Marianne; Han, S; Polizzano, Carolyn; Plotkin, Scott Randall; Manning, Brendan D.; Stemmer-Rachamimov, Anat; Gusella, James Francis; Ramesh, Vijaya (American Society for Microbiology, 2009)
      Inactivating mutations of the neurofibromatosis 2 (NF2) gene, NF2, result predominantly in benign neurological tumors, schwannomas and meningiomas, in humans; however, mutations in murine Nf2 lead to a broad spectrum of ...

    • Population stratification may bias analysis of PGC-1α as a modifier of age at Huntington disease motor onset 

      Ramos, Eliana Marisa; Latourelle, Jeanne C.; Lee, Ji-Hyun; Gillis, Tammy; Mysore, Jayalakshmi S.; Squitieri, Ferdinando; Di Pardo, Alba; Di Donato, Stefano; Hayden, Michael R.; Morrison, Patrick J.; Nance, Martha; Ross, Christopher A.; Margolis, Russell L.; Gomez-Tortosa, Estrella; Ayuso, Carmen; Suchowersky, Oksana; Trent, Ronald J.; McCusker, Elizabeth; Novelletto, Andrea; Frontali, Marina; Jones, Randi; Ashizawa, Tetsuo; Frank, Samuel; Saint-Hilaire, Marie-Helene; Hersch, Steven M.; Rosas, Herminia Diana; Lucente, Diane; Harrison, Madaline B.; Zanko, Andrea; Marder, Karen; Gusella, James Francis; Lee, Jong-Min; Alonso, Isabel; Sequeiros, Jorge; Myers, Richard Hepworth; MacDonald, Marcy Elizabeth (Springer-Verlag, 2012)
      Huntington’s disease (HD) is an inherited neurodegenerative disorder characterized by motor, cognitive and behavioral disturbances, caused by the expansion of a CAG trinucleotide repeat in the HD gene. The CAG allele size ...