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Human Polyclonal DKC1 Primary Antibody for ICC, IF - ABIN4305309
Montanaro, Calienni, Ceccarelli, Santini, Taffurelli, Pileri, Treré, Derenzini: Relationship between dyskerin expression and telomerase activity in human breast cancer. in Cellular oncology : the official journal of the International Society for Cellular Oncology 2008
Show all 4 Pubmed References
Human Polyclonal DKC1 Primary Antibody for IHC (p), IHC - ABIN252945
Yoon, Peng, Brandenburger, Brandenburg, Zollo, Xu, Rego, Ruggero: Impaired control of IRES-mediated translation in X-linked dyskeratosis congenita. in Science (New York, N.Y.) 2006
Human Polyclonal DKC1 Primary Antibody for ICC, IF - ABIN4305308
von Stedingk, Koster, Piqueras, Noguera, Navarro, Påhlman, Versteeg, Ora, Gisselsson, Lindgren, Axelson: snoRNPs Regulate Telomerase Activity in Neuroblastoma and Are Associated with Poor Prognosis. in Translational oncology 2013
The expression of DKC1 was upregulated in ccRCC.
Dyskerin isoform 3 boosts energy metabolism.
dyskerin suppression caused p53 (show TP53 Antibodies)-dependent G1 cell-cycle arrest in p53 (show TP53 Antibodies) wild-type cells, and a p53 (show TP53 Antibodies)-independent pathway impaired proliferation in cells with p53 (show TP53 Antibodies) dysfunction.
observed dyskerin expression, telomerase RNA accumulation, and pseudouridylation present in all DKC1 mutation carriers at levels comparable to healthy wild-type controls
A mutation in the DC gene 1 (DKC1) at Xq28 results in dysfunction of dyskerin, a protein that is involved in telomere maintenance and ribosomal biogenesis.
Loss of dyskerin binding leads to telomerase RNA component degradation.
Expression of GSE4 increased telomerase activity and reduced DNA damage, oxidative stress and cell senescence in dyskerin-mutated cells.
influence of dyskerin expression on tumor clinical outcome is linked to its role on the maintenance of high levels of TERC
a significant increase in DKC1, RAD50, MRE11 and RPA1 expression in MM cases with high bone marrow infiltration (p=0.03) and a tendency towards cases with advanced ISS stage
Performed a comprehensive study of human dyskerin through structural, phylogenetic and bioinformatic analysis.
Deficiency in dkc1 and nola1 (show GAR1 Antibodies) in the H/ACA RNP (show RNPC3 Antibodies) complex likely contributes to the hematopoietic phenotype through p53 (show TP53 Antibodies) activation associated with rRNA processing defects during the initial stage of Dyskeratosis congenita pathogenesis.
Mouse embryonic fibroblasts cells with no pseudouridylation activity in H/ACA snoRNPs due to lack of Dkc1, can produce mature ribosomes, however, the ribosomes are very unstable and cell growth and division is very slow.
mTR (show MTR Antibodies) stability and telomerase activity produced by the Dkc1 A353V mutation in dyskeratosis congenita are rescued by a peptide from the dyskerin TruB domain.
A mouse small nucleolar snoRNA microarray was used to monitor changes in abundance of snoRNAs after ablation of dyskerin, an H/ACA snoRNA protein component, from mouse liver, which causes a decrease in ribosome production.
hepatocytes can survive without dyskerin but the role of dyskerin in RNA modification is essential for cellular proliferation.
Female mice carrying the deletion in the paternally derived Dkc1 show extreme skewing of X-inactivation with the wild type X-chromosome active in all cells.
results establish a role of dyskerin for deregulated rRNA modification in tumor formation and disease pathogenesis in dyskeratosis congenita
Data show that point mutations in dyskerin may affect both the telomerase and pseudouridylation pathways and the extent to which these functions are altered can vary for different mutations.
specific defect in IRES (internal ribosome entry site)-dependent translation in Dkc1 mutant mice; defect results in impaired translation of mRNAs containing IRES elements, including those encoding p27Kip1 (show CDKN1B Antibodies)), Bcl-xL (show BCL2L1 Antibodies) and XIAP (show XIAP Antibodies)
dyskerin mutations cause slow growth independently of telomere shortening and this slow growth is the result of the induction of DNA damage. Thus, dyskerin interacts with telomerase and affects telomere maintenance independently of telomere length.
[CBF5] Arabidopsis CBF5 interacts with NAF1 (show TNIP1 Antibodies) in planta.
T66A NAP57 behaves as a dominant-negative inhibitor of telomerase. dyskerin is a conserved component of the telomerase RNP (show RNPC3 Antibodies) complex in higher eukaryotes that is required for maximal enzyme activity in vivo.
This gene is a member of the H/ACA snoRNPs (small nucleolar ribonucleoproteins) gene family. snoRNPs are involved in various aspects of rRNA processing and modification and have been classified into two families: C/D and H/ACA. The H/ACA snoRNPs also include the NOLA1, 2 and 3 proteins. The protein encoded by this gene and the three NOLA proteins localize to the dense fibrillar components of nucleoli and to coiled (Cajal) bodies in the nucleus. Both 18S rRNA production and rRNA pseudouridylation are impaired if any one of the four proteins is depleted. These four H/ACA snoRNP proteins are also components of the telomerase complex. The protein encoded by this gene is related to the Saccharomyces cerevisiae Cbf5p and Drosophila melanogaster Nop60B proteins. The gene lies in a tail-to-tail orientation with the palmitoylated erythrocyte membrane protein gene and is transcribed in a telomere to centromere direction. Both nucleotide substitutions and single trinucleotide repeat polymorphisms have been found in this gene. Mutations in this gene cause X-linked dyskeratosis congenita, a disease resulting in reticulate skin pigmentation, mucosal leukoplakia, nail dystrophy, and progressive bone marrow failure in most cases. Mutations in this gene also cause Hoyeraal-Hreidarsson syndrome, which is a more severe form of dyskeratosis congenita. Two transcript variants encoding different isoforms have been found for this gene.
, H/ACA ribonucleoprotein complex subunit 4
, cbf5p homolog
, nopp140-associated protein of 57 kDa
, nucleolar protein NAP57
, nucleolar protein family A member 4
, snoRNP protein DKC1
, dyskeratosis congenita 1, dyskerin
, H/ACA ribonucleoprotein complex subunit 4-like
, h/ACA ribonucleoprotein complex subunit 4-like
, dyskeratosis congenita 1, dyskerin homolog