نتایج جستجو برای: fragile

تعداد نتایج: 14246  

2010
Max A. Alekseyev Pavel A. Pevzner

An important question in genome evolution is whether there exist fragile regions (rearrangement hotspots) where chromosomal rearrangements are happening over and over again. Although nearly all recent studies supported the existence of fragile regions in mammalian genomes, the most comprehensive phylogenomic study of mammals (Ma et al. (2006) Genome Research 16, 1557-1565) raised some doubts ab...

Journal: :Human molecular genetics 2007
Kim Debacker R Frank Kooy

A relationship between fragile sites, specific genomic regions visible as gaps or breaks on cultivated chromosomes, and human disease has been proposed many years ago. Evidence for a role of the ubiquitously expressed common fragile sites characterized by peculiar genome architecture in cancer has been accumulated over the last years. In contrast, a relationship between the second main group of...

Journal: :Journal of applied physiology 2016
David Morales-Alamo Marcos Martin-Rincon Mario Perez-Valera Samuele Marcora José A L Calbet

David Morales-Alamo, Marcos Martin-Rincon, Mario Perez-Valera, X Samuele Marcora, and José A. L. Calbet Department of Physical Education, University of Las Palmas de Gran Canaria, Campus Universitario de Tafira s/n, Las Palmas de Gran Canaria, Spain; Research Institute of Biomedical and Health Sciences (IUIBS), Las Palmas de Gran Canaria, Canary Islands, Spain; Department of Sports and Informat...

Journal: :Movement disorders : official journal of the Movement Disorder Society 2013
Jun Yi Wang Randi J Hagerman Susan M Rivera

Approximately 40% of males with the fragile X premutation develop fragile X-associated tremor/ataxia syndrome after age 50. Although the thalamus and basal ganglia play a crucial role in movement disorders, their involvement in fragile X premutation carriers has not been systematically investigated. The current study characterized structural abnormalities associated with fragile X premutation c...

Journal: :Brain research 2011
Catherine H Choi Brian P Schoenfeld Aaron J Bell Paul Hinchey Maria Kollaros Michael J Gertner Newton H Woo Michael R Tranfaglia Mark F Bear R Suzanne Zukin Thomas V McDonald Thomas A Jongens Sean M J McBride

Fragile X syndrome is the leading single gene cause of intellectual disabilities. Treatment of a Drosophila model of Fragile X syndrome with metabotropic glutamate receptor (mGluR) antagonists or lithium rescues social and cognitive impairments. A hallmark feature of the Fragile X mouse model is enhanced mGluR-dependent long-term depression (LTD) at Schaffer collateral to CA1 pyramidal synapses...

Journal: :Folia parasitologica 2008
Miloslav Jirků Andrea Valigurová Bretislav Koudela Jaroslav Krízek David Modrý Jan Slapeta

Cryptosporidium fragile sp. n. (Apicomplexa) is described from black-spined toads, Duttaphrynus melanostictus (Schneider) (Amphibia, Anura, Bufonidae) from the Malay Peninsula. The parasitized animals were directly imported from Malaysia and harboured C. fragile at the time of arrival. Oocysts were subspherical to elliptical with irregular contour in optical section, measuring 6.2 (5.5-7.0) x 5...

2009
Xi Zhao Steve Schneider

......................................................................................................................... 2 Acknowledgements ........................................................................................................ 3 1.0 Introduction .............................................................................................................. 4 1.1 Aims and Object...

Journal: :The Journal of clinical psychiatry 2009
James A Bourgeois Sarah M Coffey Susan M Rivera David Hessl Louise W Gane Flora Tassone Claudia Greco Brenda Finucane Lawrence Nelson Elizabeth Berry-Kravis Jim Grigsby Paul J Hagerman Randi J Hagerman

CONTEXT Fragile X premutation conditions are associated with a significant degree of psychopathology and thus are of interest to the psychiatrist. Remarkable advances at the molecular level have enhanced our understanding of fragile X premutation disorders. OBJECTIVE The authors review the genetic, molecular, neuroimaging, and clinical (systemic, neurologic, and psychiatric) manifestations of...

Journal: :Developmental Medicine & Child Neurology 2018

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