Zobrazeno 1 - 10
of 90
pro vyhledávání: '"D.A.P. Evans"'
Autor:
Fred W. van Leeuwen, Rob W. H. Hermanussen, M. A. F. Sonnemans, D.A.P. Evans, Kum-Fai Chooi, Ewoud Moraal, David Murphy, David F. Fischer, Elly M. Hol, J. Peter H. Burbach
Publikováno v:
The FASEB Journal. 14:1595-1602
+1 Frame-shifted proteins such as amyloid precursor protein+1 and ubiquitin-B+1 have been identified in the neuropathological hallmarks of Alzheimer’s disease. These frameshifts are caused by dinucleotide deletions in GAGAG motifs of messenger RNA
Publikováno v:
Neuroscience. 72:225-231
A single base deletion (ΔG) in the vasopressin gene is the cause of diabetes insipidus in the homozygous Brattleboro rat (di/di). The resulting frameshift leads to the expression of an aberrant vasopressin precursor which is unable to enter the secr
Publikováno v:
Mutation Research/DNAging. 338:173-182
Genetic instability is generally thought to underlie the process of aging and is predominantly associated with meiosis and mitosis. This review will discuss DNA damage and repair, somatic mutations and somatic recombination events in non-dividing neu
For decades the magnocellular neurons of the hypothalamo-neurophypophyseal system (HNS), in which either vaso-pressin or oxytocin are produced and released into the bloodstream, have been playing a pivotal role in fundamental discoveries in the nervo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0b30a8094c779b4e1306e069b2bf4df5
https://doi.org/10.1016/s0079-6123(08)61565-4
https://doi.org/10.1016/s0079-6123(08)61565-4
Publikováno v:
Neuroscience, 71, 1025-1030. Elsevier B.V.
We report here the expression of mutant proteins displaying the +1 reading frame of the vasopressin and oxytocin precursors in magnocellular neurons of the human hypothalamus. Our data demonstrate a high frequency of frameshift mutations in these neu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::de97573ed7806800eccab10393f17542
https://pure.knaw.nl/portal/en/publications/d53eb7a6-5717-4bf0-ac9e-5670c7976bdc
https://pure.knaw.nl/portal/en/publications/d53eb7a6-5717-4bf0-ac9e-5670c7976bdc
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America. 91(13)
Mutations in DNA underlie carcinogenesis, inherited pathology, and aging and are generally thought to be introduced during meiosis and mitosis. Here we report that in post-mitotic neurons specific frameshift mutations occur at high frequency. These m
Publikováno v:
Brain research. 635(1-2)
In the homozygous Brattleboro rat (di/di) a single base deletion in the vasopressin (VP) gene causes diabetes insipidus, resulting in the synthesis of a VP precursor with a different C-terminus. We reported previously that a small number of post-mito
Autor:
Freddy M. De Bree, Sofia Lopes da Silva, Fred W. van Leeuwen, J. Peter H. Burbach, D.A.P. Evans
Publikováno v:
Annals of the New York Academy of Sciences. 689
Publikováno v:
Vox Sanguinis. 43:177-187
Publikováno v:
The Lancet. 290:186-188
A series of mongols and their relatives, together with a series of matched control propositi and their relatives, have been investigated. There seems to be rather more thyroid disease clinically in mothers of mongols as compared with mothers of contr