Search results for "Exon"
showing 10 items of 437 documents
Compromised nuclear envelope integrity drives TREX1-dependent DNA damage and tumor cell invasion
2021
Although mutations leading to a compromised nuclear envelope cause diseases such as muscular dystrophies or accelerated aging, the consequences of mechanically induced nuclear envelope ruptures are less known. Here, we show that nuclear envelope ruptures induce DNA damage that promotes senescence in non-transformed cells and induces an invasive phenotype in human breast cancer cells. We find that the endoplasmic reticulum (ER)-associated exonuclease TREX1 translocates into the nucleus after nuclear envelope rupture and is required to induce DNA damage. Inside the mammary duct, cellular crowding leads to nuclear envelope ruptures that generate TREX1-dependent DNA damage, thereby driving the …
Sequestration of (CH3)Hg+ by amino‐polycarboxylic chelating agents
2012
Abstract The speciation of mono-methylmercury(II) cation (MeHg+) in the presence of Nitrilotriacetate (NTA), Ethylenediamine-N,N,N′,N′-tetraacetate (EDTA), diethylenetriamine-N,N,N′,N″,N″-pentaacetate (DTPA) and (S,S)- Ethylenediamine-N,N′-disuccinic acid (S,S-EDDS) was investigated at I = 0.1 mol L− 1 (NaCl) with the aim to assess a trend of sequestering capacity of the amino‐polycarboxylic (APCs) ligand class towards this cation in aqueous solution. The results obtained gave evidence for the formation of a mononuclear [MeHg(APC)] complex species, differently protonated MeHg(HiL) species (i = 1 to 3, depending on the APC considered), a mixed hydroxo species [MeHg(APC)(OH)] and a binuclear …
Lipid and apoprotein composition of HDL in partial or complete CETP deficiency
2012
Hyperalphalipoproteinemia, as observed in patients who are either homozygous or heterozygous for cholesteryl ester transfer protein (CETP) deficiency, has been shown to be associated with striking changes in apolipoprotein size distribution, namely, of high-density lipoprotein (HDL) and HDL-like particles. We compared the effect of varying degrees of CETP activity on the HDL apolipoprotein profile in Caucasian CETP-deficient subjects and following pharmacological decrease in CETP activity, using Size Exclusion Chromatography followed by Reverse Phase Protein Array (SEC RPA). The main HDL-associated apolipoproteins (Apo), i.e. ApoA-I, ApoA-II, ApoC-I, and ApoC-III, co-eluted with the HDL pea…
dfh is a Drosophila homolog of the Friedreich's ataxia disease gene
2000
Abstract A putative Drosophila homolog of the Friedreich's ataxia disease gene (FRDA) has been cloned and characterized; it has been named Drosophila frataxin homolog (dfh). It is located at 8C/D position on X chromosome and is spread over 1 kb, a much smaller genomic region than the human gene. Its genomic organization is simple, with a single intron dividing the coding region into two exons. The predicted encoded product has 190 amino acids, being considered a frataxin-like protein on the basis of the sequence and secondary structure conservation when compared with human frataxin and related proteins from other eukaryotes. The closest match between the Drosophila and the human proteins in…
Systematic screening for mutations in the human serotonin-2A (5-HT2A) receptor gene: Identification of two naturally occurring receptor variants and …
1996
A statistically significant association between a silent mutation (102T/C) in the serotonin-2A (5-HT2A) receptor gene and schizophrenia has recently been reported in a sample of Japanese patients and healthy controls. This finding suggests that genetic predisposition to schizophrenia may be affected by a functional 5-HT2A receptor variant that is in linkage disequilibrium with 102T/C. In the present study, we have sought to identify genetic variation in the 5-HT2A receptor gene by screening genomic DNA samples from 91 unrelated subjects comprising 45 patients with schizophrenia and 46 healthy controls by using single-strand conformation analysis. We have identified four nucleotide sequence …
CCDC 1569570: Experimental Crystal Structure Determination
2019
Related Article: Elena Prigorchenko, Sandra Kaabel, Triin Narva, Anastassia Baškir, Maria Fomitšenko, Jasper Adamson, Ivar Järving, Kari Rissanen, Toomas Tamm, Riina Aav|2019|Chem.Commun.|55|9307|doi:10.1039/C9CC04990H
CCDC 705737: Experimental Crystal Structure Determination
2009
Related Article: D.Meshcheryakov, V.Bohmer, M.Bolte, V.Hubscher-Bruder, F.Arnaud-Neu|2009|Chem.-Eur.J.|15|4811|doi:10.1002/chem.200802573
CCDC 705736: Experimental Crystal Structure Determination
2009
Related Article: D.Meshcheryakov, V.Bohmer, M.Bolte, V.Hubscher-Bruder, F.Arnaud-Neu|2009|Chem.-Eur.J.|15|4811|doi:10.1002/chem.200802573
CCDC 1400636: Experimental Crystal Structure Determination
2017
Related Article: Stefania Tomyn, Sergii I. Shylin, Dmytro Bykov, Vadim Ksenofontov, Elzbieta Gumienna-Kontecka, Volodymyr Bon, Igor O. Fritsky|2017|Nat.Commun.|8|14099|doi:10.1038/ncomms14099
CCDC 1400635: Experimental Crystal Structure Determination
2017
Related Article: Stefania Tomyn, Sergii I. Shylin, Dmytro Bykov, Vadim Ksenofontov, Elzbieta Gumienna-Kontecka, Volodymyr Bon, Igor O. Fritsky|2017|Nat.Commun.|8|14099|doi:10.1038/ncomms14099