Results 331 to 340 of about 8,013,600 (393)

FGF14 GAA Intronic Expansion in Unsolved Adult‐Onset Ataxia in the Care4Rare Canada Consortium

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background and Objectives Spinocerebellar ataxias (SCA) represent a clinically and genetically heterogeneous group of progressive neurodegenerative diseases with prominent cerebellar atrophy. Recently, a novel pathogenic repeat expansion in intron 1 of FGF14 was identified, causing adult‐onset SCA (SCA27B). We aimed to determine the proportion
Alexanne Cuillerier, Giulia F. Del Gobbo, Layla Mackay, Erika Wall, Madeline Couse, Laura M. McDonell, Mireille Cloutier, Matt C. Danzi, Jodi Warman‐Chardon, Pierre R. Bourque, Oksana Suchowersky, Alan Mears, Luke Seldenthuis, Wendy Mears, Laura Larrigan, Alexandre White‐Brown, Gerald Pfeffer, Dennis E. Bulman, David Dyment, Care4Rare Canada Consortium, Kym M. Boycott   +20 more
wiley   +1 more source

A Novel CHMP2B Splicing Variant in Atypical Presentation of Familial Frontotemporal Lobar Degeneration

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT C‐truncating variants in the charged multivesicular body protein 2B (CHMP2B) gene are a rare cause of frontotemporal lobar degeneration (FTLD), previously identified only in Denmark, Belgium, and China. We report a novel CHMP2B splice‐site variant (c.35‐1G>A) associated with familial FTLD in Spain. The cases were two monozygotic male twins who
Sara Rubio‐Guerra, Sara Bernal, David Almenta, Josefina Pérez‐Blanco, Valle Camacho, Isabel Sala, Mª Belén Sánchez‐Saudinós, Jesús García Castro, Judit Selma‐González, Miguel Ángel Santos‐Santos, Álvaro Carbayo, Janina Turon‐Sans, Ricard Rojas‐Garcia, Daniel Alcolea, Juan Fortea, Alberto Lleó, Oriol Dols‐Icardo, Ignacio Illán‐Gala   +17 more
wiley   +1 more source

Cerebello‐Prefrontal Connectivity Underlying Cognitive Dysfunction in Spinocerebellar Ataxia Type 2

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Spinocerebellar ataxia type 2 (SCA2) is a hereditary cerebellar degenerative disorder, with motor and cognitive symptoms. The constellation of cognitive symptoms due to cerebellar degeneration is named cerebellar cognitive affective syndrome (CCAS), which has increasingly been recognized to profoundly impact patients' quality of life;
Ami Kumar, Ruo‐Yah Lai, Zena Fadel, Yicheng Lin, Pia Parekh, Rachel Griep, Ming‐Kai Pan, Sheng‐Han Kuo   +7 more
wiley   +1 more source

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Regulation and mechanisms of gene amplification

Philosophical Transactions of the Royal Society of London. Series B: Biological Sciences, 1995
Amplification in rodent cells usually involves bridge-breakage-fusion (bbf) cycles initiated either by endto-end fusion of sister chromatids, or by chromosome breakage. In contrast, in human cells, resistance to the antimetabolite A-(phosphonacetyl)-L-aspartate (PALA) can be mediated by several different mechanisms that lead to ...
Yutaka Deguchi, George R. Stark, Chernov Mv, Olga B. Chernova, Marie-France Poupon, Munna L. Agarwal, Kathleen A. Smith, Thomas E. Patterson, Yukihito Ishizaka   +8 more
openaire   +3 more sources

Alternative Model for Gene Amplification [PDF]

Nature New Biology, 1971
The number of nucleoli increases shortly after the conversion of germ cells into oogonia or spermatogonia in Xenopus laevis. This event demands a modification of the theory of gene amplification. A new explanation is proposed which involves non-chromosomal genes restricted to the germ-line.
J. Morray, William H. R. Langridge, H. Wallace   +2 more
openaire   +2 more sources

Fluorometric Detection of MicroRNA Using Isothermal Gene Amplification and Graphene Oxide.

Analytical Chemistry, 2016
We have developed a facile fluorometric system for the detection of microRNA (miRNA), using rolling circle amplification (RCA), graphene oxide (GO), and fluorescently labeled peptide nucleic acid (F-PNA).
Chaesun Hong, Ahruem Baek, S. Hah, W. Jung, Dong-Eun Kim   +4 more
semanticscholar   +1 more source

EPSPS gene amplification in glyphosate-resistant Bromus diandrus.

Pest Management Science, 2016
BACKGROUND Glyphosate is the most widely used herbicide in the world and has been intensively used to control B. diandrus, a problematic weed of crops and pastures in southern Australia.
Jenna M. Malone, Sarah Morran, N. Shirley, P. Boutsalis, C. Preston   +4 more
semanticscholar   +1 more source

Gene amplification in cancer

Trends in Genetics, 2006
Gene amplification is a copy number increase of a restricted region of a chromosome arm. It is prevalent in some tumors and is associated with overexpression of the amplified gene(s). Amplified DNA can be organized as extrachromosomal elements, as repeated units at a single locus or scattered throughout the genome.
openaire   +3 more sources

GENE AMPLIFICATION IN LEISHMANIA

Annual Review of Microbiology, 1991
INTRODUCTION . . . . . . . . . . . . .. . .... . . .... . . . . . . . . . . . . . . . . . . . . . .. . ... . . . .. . . . .. . . .. . . .. .. . .. . . . . . . . . . . 417 A Leishmania Primer 4 1 8 The Leishmania Genome and Circular DNAs . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .
openaire   +3 more sources

Human breast cancer: correlation of relapse and survival with amplification of the HER-2/neu oncogene.

Science, 1987
The HER-2/neu oncogene is a member of the erbB-like oncogene family, and is related to, but distinct from, the epidermal growth factor receptor. This gene has been shown to be amplified in human breast cancer cell lines. In the current study, alterations
D. Slamon, G. Clark, S. Wong, W. Levin, A. Ullrich, W. McGuire   +5 more
semanticscholar   +1 more source