Temat: regulatory element - Katalog OPAC zbiorów

Skocz do pozycji: 1.

Tytuł:: Regulation of alternative splicing by RNA secondary structure
Autorzy:: Lisowiec, J.
Dominiak, G.
Kierzek, R.
Powiązania:: https://bibliotekanauki.pl/articles/79823.pdf
Data publikacji:: 2014
Wydawca:: Polska Akademia Nauk. Czytelnia Czasopism PAN
Tematy:: alternative splicing
cis-acting element
trans-acting factor
RNA secondary structure
regulatory element
splicing factor
Źródło:: BioTechnologia. Journal of Biotechnology Computational Biology and Bionanotechnology; 2014, 95, 3
0860-7796
Pojawia się w:: BioTechnologia. Journal of Biotechnology Computational Biology and Bionanotechnology
Dostawca treści:: Biblioteka Nauki

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Skocz do pozycji: 2.

Tytuł:: The role of iron regulatory proteins in the control of iron metabolism in mammals
Autorzy:: Stys, A.
Starzynski, R.R.
Lipinski, P.
Powiązania:: https://bibliotekanauki.pl/articles/80193.pdf
Data publikacji:: 2011
Wydawca:: Polska Akademia Nauk. Czytelnia Czasopism PAN
Tematy:: duodenal enterocyte
ferritin
hepatocyte
hydrogen peroxide
inflammation
iron homeostasis
iron metabolism
iron regulated protein
iron regulatory element
mammal
mRNA
nitric oxide
reticuloendothelial macrophage
Źródło:: BioTechnologia. Journal of Biotechnology Computational Biology and Bionanotechnology; 2011, 92, 1
0860-7796
Pojawia się w:: BioTechnologia. Journal of Biotechnology Computational Biology and Bionanotechnology
Dostawca treści:: Biblioteka Nauki

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Skocz do pozycji: 3.

Tytuł:: Two pathogenic mutations located within the 5-regulatory sequence of the GJB1 gene affecting initiation of transcription and translation
Autorzy:: Kabzińska, Dagmara
Kotruchow, Katarzyna
Ryniewicz, Barbara
Kochański, Andrzej
Powiązania:: https://bibliotekanauki.pl/articles/1039887.pdf
Data publikacji:: 2011
Wydawca:: Polskie Towarzystwo Biochemiczne
Tematy:: IRES element
transcription
GJB1 gene
translation
mutations in regulatory elements
Opis:: In contrast to mutations in the coding sequences of a genes involved in the pathogenesis of Charcot-Marie-Tooth disease (CMT), little is known about CMT phenotypes resulting from a DNA variants located in regulatory sequences of a given " CMT gene". Charcot-Marie-Tooth type X1 disease (CMTX1) is caused by mutations in the GJB1 gene coding for an ion channel known as connexin, with a molecular mass of 32 kDa (Cx32). Only 0.01% of the GJB1 gene mutations have been reported in its 5' regulatory sequence. Pathogenic mutations occured in the internal ribosome entry site (IRES) are extremely rarely reported in human genetic disorders. To the best of our knowledge, in this study we report for the first time in an Eastern European population, two CMTX1 families in which two pathogenic mutations in the 5' regulatory sequence of the GJB1 gene (c.-529T>C and -459C>T) have been found. The two mutations identified in our study disturb the 5' UTR sequence in two different ways, by affecting the transcription factor SOX10 binding site (c.-529T>C) and by the disrupting IRES element of GJB1 gene (c.-459C>T). These regions are responsible for transcription (SOX10) and initiation of translation (IRES), respectively. On the basis of our findings that, in contrast to the most DNA sequence variants reported in untranslated regulatory regions of genes, the c.-459C>T and c.-529T>C mutations remain pathogenic in the context of different ethnic background.
Źródło:: Acta Biochimica Polonica; 2011, 58, 3; 359-363
0001-527X
Pojawia się w:: Acta Biochimica Polonica
Dostawca treści:: Biblioteka Nauki

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