Zobrazeno 1 - 10
of 25
pro vyhledávání: '"R. L. Margolis"'
Publikováno v:
Cytogenetic and Genome Research. 100:189-197
Spinocerebellar ataxia type 12 (SCA12), now described in European-American and Asian (Indian) pedigrees, is unique among the SCAs from clinical, pathological, and molecular perspectives. Clinically, the distinguishing feature is early and prominent a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3fcc18602f11185c95661958b1bac117
https://doi.org/10.1159/000072854
https://doi.org/10.1159/000072854
Autor:
John J. Kleiderlein, Paul E. Nisson, Joel Jessee, W.-B. Li, K. G. Becker, Michael L. Derby, Christopher A. Ross, R. L. Margolis
Publikováno v:
Human Genetics. 103:666-673
Expansion mutations of trinucleotide repeats and other units of unstable DNA have been proposed to account for at least some of the genetic susceptibility to a number of neuropsychiatric disorders, including bipolar affective disorder, schizophrenia,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::911c7dda719d7309f3fb905e262a6cad
https://doi.org/10.1007/s004390050889
https://doi.org/10.1007/s004390050889
Autor:
R. L. Margolis, Dobrila D. Rudnicki
Publikováno v:
Neuroacanthocytosis Syndromes II ISBN: 9783540716921
Clinical characteristics Huntington disease-like 2 (HDL2) typically presents in midlife with a relentless progressive triad of movement, emotional, and cognitive abnormalities which lead to death within ten to 20 years. HDL2 cannot be differentiated
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2dfd45e04a7e3587c3986acf8bf89e37
https://doi.org/10.1007/978-3-540-71693-8_5
https://doi.org/10.1007/978-3-540-71693-8_5
Publikováno v:
Cancer research. 61(20)
p21WAF1 and 14-3-3sigma, which are both transcriptional products of p53, have been reported to play a role in the G2 DNA damage checkpoint in mammalian cells. Human colon carcinoma cells, isogenic except for the presence or absence of either p21WAF1
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::40e8d17f82b4421e0f0a1b52023dae20
https://pubmed.ncbi.nlm.nih.gov/11606409
https://pubmed.ncbi.nlm.nih.gov/11606409
Autor:
A, Rosenblatt, R R, Brinkman, K Y, Liang, E W, Almqvist, R L, Margolis, C Y, Huang, M, Sherr, M L, Franz, M H, Abbott, M R, Hayden, C A, Ross
Publikováno v:
American journal of medical genetics. 105(5)
In order to provide data relevant to a search for modifying genes for age of onset in Huntington disease, we examined the relationship between CAG number and age of onset in a total of 370 individuals from 165 siblingships, in two cohorts of siblings
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::2b3143b17de3d2a0de9fac75a194e251
https://pubmed.ncbi.nlm.nih.gov/11449389
https://pubmed.ncbi.nlm.nih.gov/11449389
Publikováno v:
Molecular cell. 6(1)
Survivin is a mitotic spindle-associated protein involved in linking mitotic spindle function to activation of apoptosis in mammalian cells. The structure of the full-length human survivin has been determined by X-ray crystallography to 2.7 A. Striki
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::becbeb78dddfa11dbea5c50cc1f934ad
https://pubmed.ncbi.nlm.nih.gov/10949039
https://pubmed.ncbi.nlm.nih.gov/10949039
Publikováno v:
Pathologie-biologie. 47(10)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::7cba744e7089691a1a245e45e365fa65
https://pubmed.ncbi.nlm.nih.gov/10674256
https://pubmed.ncbi.nlm.nih.gov/10674256
Publikováno v:
Progress in brain research. 117
Eight diseases are now known to be caused by an expansion mutation of the trinucleotide repeat CAG encoding glutamine. Each disease is caused by a CAG expansion in a different gene, and the genes bear no similarity to each other except for the presen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::a6278dbc5e104cd526847d6a771397c6
https://pubmed.ncbi.nlm.nih.gov/9932422
https://pubmed.ncbi.nlm.nih.gov/9932422
Autor:
R L, Margolis, L, Wilson
Publikováno v:
BioEssays : news and reviews in molecular, cellular and developmental biology. 20(10)
"I'll see it when I believe it" Daniel Mazia Microtubules are centrally involved in many essential cell functions, including mitosis, vesicle motility, and the control of morphogenesis. Further, they appear to be involved in the control of cell cycle
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::da63e9c19511ba1590f46653b73dbd83
https://pubmed.ncbi.nlm.nih.gov/9819570
https://pubmed.ncbi.nlm.nih.gov/9819570
Autor:
S, Jain, J, Leggo, L E, DeLisi, T J, Crow, R L, Margolis, S H, Li, S, Goodburn, C, Walsh, E S, Paykel, M A, Ferguson-Smith, C A, Ross, D C, Rubinsztein
Publikováno v:
American journal of medical genetics. 67(2)
A group of diseases are due to abnormal expansions of trinucleotide repeats. These diseases all affect the nervous system. In addition, they manifest the phenomenon of anticipation, in which the disease tends to present at an earlier age or with grea
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::9d55e041e4a8af459703dd774210ee87
https://pubmed.ncbi.nlm.nih.gov/8723040
https://pubmed.ncbi.nlm.nih.gov/8723040