DKC1 Gene

Aliases
for DKC1 gene

Previous GC identifers: GC0XP148054 GC0XP150371 GC0XP151576 GC0XP152458 GC0XP153554

Summaries
for DKC1 gene

Genomic Views
for DKC1 gene

RefSeq DNA sequence:

NC_000023.10  NC_018934.1  NT_167198.1  

SwitchGear Promoter luciferase reporter plasmids (see all 3): DKC1 promoter sequence

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DKC1

DKC1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)


GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP153984:  view genomic region     (about GC identifiers)

Proteins
for DKC1 gene

Explore the universe of human proteins at neXtProt for DKC1: NX_O60832

Post-translational modifications:

	Browse Purified and Recombinant Proteins at EMD Millipore
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Browse OriGene full length recombinant human proteins expressed in human HEK293 cells OriGene Protein Over-expression Lysate (see all 2): DKC1 OriGene Custom Protein Services for DKC1
	GenScript Custom Purified and Recombinant Proteins Services for DKC1
	Novus Biologicals DKC1 Proteins Novus Biologicals DKC1 Lysates
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for DKC1

Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

	Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	Browse R&D Systems for Antibodies
	OriGene Antibodies: DKC1 OriGene Custom Antibody Services for DKC1
	GenScript Custom Superior Antibodies Services for DKC1
	Novus Biologicals DKC1 Antibodies
	Abcam antibodies for DKC1
	Uscn Antibodies for DKC1
	ThermoFisher Antibody for DKC1

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for DKC1
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for DKC1

Protein Domains /
Families
for DKC1 gene

ProtoNet protein and cluster: O60832

Function
for DKC1 gene

miRNA Products:		OriGene 3'-UTR Clone (see all 2): DKC1 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat DKC1
		8 QIAGEN miScript miRNA Assays for microRNAs that regulate DKC1:
		hsa-miR-3671 hsa-miR-548am hsa-miR-501-5p hsa-miR-4279 hsa-miR-548x hsa-miR-362-5p hsa-miR-548c-3p hsa-miR-646
		SwitchGear 3'UTR luciferase reporter plasmid: DKC1 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for DKC1 (see all 7) OriGene shRNA RFP: DKC1 OriGene siRNA: DKC1
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat DKC1

Gene Editing Products:

DNA2.0 Custom Protein Engineering Service for DKC1

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for DKC1 (see all 4) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DKC1 (see all 3) OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 2): DKC1 (NM_001363)
		Browse Sino Biological Human cDNA Clones
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for DKC1
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DKC1

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for DKC1
		Search LifeMap BioReagents cell lines for DKC1

In Situ Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DKC1

Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

(inferred from 9 alleles) (MGI details for Dkc1)

Pathways & Interactions
for DKC1 gene

	Super-pathway	contained gene-specific pathways
1	Meiotic Synapsis	Chromosome Maintenance 0.56 Telomere Maintenance 0.38
2	Telomere Extension By Telomerase	Telomere Extension By Telomerase 1.00
3	Cell Cycle	Cell Cycle 1.00
4	Ribosome biogenesis in eukaryotes	Ribosome biogenesis in eukaryotes 1.00
5	Regulation of Telomerase	Regulation of Telomerase 1.00

1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for DKC1

Telomerase Components in Cell Signaling

1 BioSystems Pathway for DKC1

Regulation of Telomerase

5        Reactome Pathways for DKC1

	Extension of Telomeres
	Telomere Maintenance
	Cell Cycle
	Chromosome Maintenance
	Telomere Extension By Telomerase

1         Kegg Pathway  (Kegg details for DKC1)

Ribosome biogenesis in eukaryotes

Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

Drugs & Compounds
for DKC1 gene

Transcripts
for DKC1 gene

Expression
for DKC1 gene

DKC1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --

1 LifeMap In Vivo Development Anatomical Compartment/Cell
	Tissue Anatomical Compartment Cell			Category (developmental path)
	OvaryPrimary FolliclePrimary Oocyte			Female Gametocytes, Germ Cells
Expression: Positive    Negative     Selective marker Experimental details: Curated     Microarrays     In-situ hybridization

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for DKC1 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT2 qPCR Primer Assay in human, mouse, rat DKC1
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DKC1
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DKC1

In Situ Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DKC1

Orthologs
for DKC1 gene

Paralogs
for DKC1 gene

Genomic Variants
for DKC1 gene

10/235 NCBI SNPs in DKC1 are shown (see all 235)     About this table

Genomic Data					Transcription Related Data				Allele Frequencies
SNP ID	Valid	Clinical significance	Chr X pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
-1st2nd3rd	-1st2nd3rd	-1st2nd3rd	-1st2nd3rd	--	--	--	-1st2nd3rd	--	--	-1st2nd3rd	-1st2nd3rd	-1st2nd3rd
rs1219123031,2	C	pathogenic	153991245(+)	CATGGC/TGGATG	4	A V	mis1		0	--	--	--	--
rs1378544911,2	C	pathogenic	153993725(+)	AAATAA/C/GAACAC	6	K Q E	mis1		0	--	--	--	--
rs1219122931,2	C	pathogenic	153993740(+)	AAGAAG/TTTCTT	4	V F	mis1		0	--	--	--	--
rs1378544891,2	C	pathogenic	153993743(+)	AATTT-/CTTATCAA	2	--	cds1		0	--	--	--	--
rs289360721,2	C	pathogenic	153993747(+)	TCTTAT/CCAAAC	4	/T /I	mis1 ese3		1		NA	2
rs1219122961,2	C	pathogenic	153993749(+)	TTATCA/GAACCT	4	K E	mis1		0	--	--	--	--
rs1219122921,2	C	pathogenic	153993753(+)	CAAACC/GTGAAT	4	P R	mis1		0	--	--	--	--
rs1219123021,2	C	pathogenic	153993755(+)	AACCTA/GAATCC	4	K E	mis1		0	--	--	--	--
rs1219123041,2	C	pathogenic	153993780(+)	GGACAC/TGTCTC	4	T M	mis1		0	--	--	--	--
rs1219123011,2	C	pathogenic	153994204(+)	TGTAAC/GGACAA	4	T R	mis1		0	--	--	--	--

HapMap Linkage Disequilibrium report for DKC1 (153991031 - 154005964 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
      Database of Genomic Variants (DGV) variations for DKC1: --
Human Gene Mutation Database (HGMD): DKC1

Locus Specific Mutation Databases (LSDB): DKC1

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing DKC1

DNA2.0 Custom Variant and Variant Library Synthesis for DKC1

Disorders / Diseases
for DKC1 gene

20/32 diseases for DKC1

10/13 Novoseek disease relationships for DKC1 gene (see all 13)    About this table

Publications
for DKC1 gene

PubMed articles for DKC1 gene, integrated from 9 sources (see all 179) (see top 10): (articles sorted by number of sources associating them with DKC1)

Utopia: connect your pdf to the dynamic world of online information

1. Mapping and characterization of the X-linked dyskeratosis congenita (DKC) gene. (PubMed id 9888995)^{1, 2, 3, 9} Hassock S.... Giannelli F. (1999)
2. X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions. (PubMed id 9590285)^{1, 2, 3, 9} Heiss N.S.... Dokal I. (1998)
3. Gene structure and expression of the mouse dyskeratosis congenita gene, dkc1. (PubMed id 10903840)^{1, 2, 9} Heiss N.S....Poustka A. (2000)
4. X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene. (PubMed id 10364516)^{1, 2, 9} Knight S.W.... Poustka A. (1999)
5. Dyskerin localizes to the nucleolus and its mislocalization is unlikely to play a role in the pathogenesis of dyskeratosis congenita. (PubMed id 10556300)^{1, 2, 9} Heiss N.S....Poustka A. (1999)
6. Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1. (PubMed id 10583221)^{1, 2, 9} Knight S.W....Dokal I. (1999)
7. Identification of a novel mutation in DKC1 in dyskeratosis congenita. (PubMed id 18802941)^{1, 2, 9} Kurnikova M....Shagin D. (2009)
8. hNaf1 is required for accumulation of human box H/ACA snoRNPs, scaRNPs, and telomerase. (PubMed id 16601202)^{1, 2, 9} Hoareau-Aveilla C....Henry Y. (2006)
9. Stepwise RNP assembly at the site of H/ACA RNA transcription in human cells. (PubMed id 16618814)^{1, 2, 9} Darzacq X.... Meier U.T. (2006)
10. A telomerase component is defective in the human disease dyskeratosis congenita. (PubMed id 10591218)^{1, 2, 9} Mitchell J.R.... Collins K. (1999)
11. Novel mutations of the DKC1 gene in individuals affec ted with dyskeratosis congenita. (PubMed id 19879169)^{1, 2, 9} Rostamiani K....Metzenberg A.B. (2010)
12. Mutations in TERT, the gene for telomerase reverse transcriptase, in aplastic anemia. (PubMed id 15814878)^{1, 4, 9} Yamaguchi H.... Young N.S. (2005)
13. A new human dyskerin isoform with cytoplasmic localiz ation. (PubMed id 21820037)^{1, 2} Angrisani A....Furia M. (2011)
14. X-linked dyskeratosis congenita in Malaysia. (PubMed id 17417794)^{1, 2} Hamidah A....Kanegane H. (2008)
15. A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PubMed id 16964243)^{1, 2} Beausoleil S.A.... Gygi S.P. (2006)
16. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)^{1, 2} Olsen J.V....Mann M. (2006)
17. Architecture and assembly of mammalian H/ACA small nucleolar and telomerase ribonucleoproteins. (PubMed id 15044956)^{1, 2} Wang C. and Meier U.T. (2004)
18. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
19. Functional proteomic analysis of human nucleolus. (PubMed id 12429849)^{1, 2} Scherl A.... Diaz J.-J. (2002)
20. A novel DKC1 mutation, severe combined immunodeficiency (T+B-NK-SCID) and bone marrow transplantation in an infant with Hoyeraal-Hreidarsson syndrome. (PubMed id 12437656)^{1, 2} Cossu F.... Dokal I. (2002)
21. Human H/ACA small nucleolar RNPs and telomerase share evolutionarily conserved proteins NHP2 and NOP10. (PubMed id 11074001)^{1, 2} Pogacic V.... Filipowicz W. (2000)
22. DKC1 overexpression associated with prostate cancer p rogression. (PubMed id 19755982)^{1, 9} Sieron P....Schulz W.A. (2009)
23. Identification of novel DKC1 mutations in patients with dyskeratosis congenita: implications for pathophysiology and diagnosis. (PubMed id 11379875)^{1, 9} Knight S.W....Dokal I. (2001)
24. Single-molecule analysis of the human telomerase RNA. dyskerin interaction and the effect of dyskeratosis congenita mutations. (PubMed id 19835419)^{1, 9} Ashbridge B....Balasubramanian S. (2009)
25. Novel dyskerin-mediated mechanism of p53 inactivation through defective mRNA translation. (PubMed id 20501855)^{1, 9} Montanaro L....Derenzini M. (2010)
26. Relationship between dyskerin expression and telomerase activity in human breast cancer. (PubMed id 18936525)^{1, 9} Montanaro L....Derenzini M. (2008)
27. Pathogenic NAP57 mutations decrease ribonucleoprotein assembly in dyskeratosis congenita. (PubMed id 19734544)^{1, 9} Grozdanov P.N....Meier U.T. (2009)
28. Identification of a novel mutation and a de novo mutation in DKC1 in two Chinese pedigrees with Dyskeratosis congenita. (PubMed id 15304085)^{2, 9} Ding Y.G....Wang B.X. (2004)
29. Dyskeratosis congenita: molecular insights into telomerase function, ageing and cancer. (PubMed id 15613268)^{1, 9} Marrone A. and Dokal I. (2004)
30. A dyskerin motif reactivates telomerase activity in X-linked dyskeratosis congenita and in telomerase-deficient human cells. (PubMed id 18057229)^{1, 9} Machado-Pinilla R....Perona R. (2008)
31. Dyskeratosis congenita: a genetic disorder of many faces. (PubMed id 18005359)^{1, 9} Kirwan M. and Dokal I. (2008)
32. Effects of dyskeratosis congenita mutations in dysker in, NHP2 and NOP10 on assembly of H/ACA pre-RNPs. (PubMed id 20008900)^{1, 9} Trahan C....Dragon F. (2010)
33. The human TruB family of pseudouridine synthase genes, including the Dyskeratosis Congenita 1 gene and the novel member TRUB1. (PubMed id 12736709)^{1, 9} Zucchini C.... Valvassori L. (2003)
34. Inactivation of the tumor suppressor genes causing th e hereditary syndromes predisposing to head and neck cancer via promoter hyperm ethylation in sporadic head and neck cancers. (PubMed id 20332657)^{1, 9} Smith I.M....Califano J.A. (2010)
35. SHQ1 is required prior to NAF1 for assembly of H/ACA small nucleolar and telomerase RNPs. (PubMed id 19383767)^{2, 9} Grozdanov P.N....Meier U.T. (2009)
36. Real-time PCR quantification of human DKC1 expression in colorectal cancer. (PubMed id 18607840)^{1, 9} Turano M....Furia M. (2008)
37. An intronic mutation in DKC1 in an infant with Hoyeraal-Hreidarsson syndrome. (PubMed id 18627054)^{1, 9} Pearson T....Der Kaloustian V.M. (2008)
38. Telomerase RNA level limits telomere maintenance in X-linked dyskeratosis congenita. (PubMed id 17015423)^{1, 9} Wong J.M. and Collins K. (2006)
39. Impaired control of IRES-mediated translation in X-linked dyskeratosis congenita. (PubMed id 16690864)^{1, 9} Yoon A....Ruggero D. (2006)
40. Dyskeratosis congenita mutations in the H/ACA domain of human telomerase RNA affect its assembly into a pre-RNP. (PubMed id 19095616)^{1, 9} Trahan C. and Dragon F. (2009)
41. A human telomerase holoenzyme protein required for Cajal body localization and telomere synthesis. (PubMed id 19179534)^{2, 9} Venteicher A.S.... Artandi S.E. (2009)
42. Identification of ATPases pontin and reptin as telomerase components essential for holoenzyme assembly. (PubMed id 18358808)^{1, 9} Venteicher A.S....Artandi S.E. (2008)
43. Protein composition of catalytically active human telomerase from immortal cells. (PubMed id 17395830)^{1, 9} Cohen S.B....Reddel R.R. (2007)
44. Mutations of telomerase complex genes linked to bone marrow failures. (PubMed id 17625368)^{1, 9} Yamaguchi H. (2007)
45. Regulation of telomerase by telomeric proteins. (PubMed id 15189140)^{1, 9} Smogorzewska A. and de Lange T. (2004)
46. A census of human soluble protein complexes. (PubMed id 22939629)¹ Havugimana P.C....Emili A. (2012)
47. Charting the landscape of tandem BRCT domain-mediated protein interactions. (PubMed id 22990118)¹ Woods N.T....Monteiro A.N. (2012)
48. The accumulation and not the specific activity of telo merase ribonucleoprotein determines telomere maintenance deficiency in X-linked dyskeratosis congenita. (PubMed id 22058290)¹ Zeng X.L....Wong J.M. (2012)
49. Initial characterization of the human central proteome. (PubMed id 21269460)² Burkard T.R.... Colinge J. (2011)
50. Proliferating cell nuclear antigen (PCNA)-associated KIAA0101/PAF15 protein is a cell cycle-regulated anaphase-promoting complex/cyc losome substrate. (PubMed id 21628590)¹ Emanuele M.J....Elledge S.J. (2011)
51. The H/ACA RNP assembly factor SHQ1 functions as an RN A mimic. (PubMed id 22085966)¹ Walbott H....Leulliot N. (2011)
52. Correlation of dyskerin expression with active prolif eration independent of telomerase. (PubMed id 21674675)¹ Alawi F....Patel R. (2011)
53. Ubiquitin ligase substrate identification through qua ntitative proteomics at both the protein and peptide levels. (PubMed id 21987572)¹ Lee K.A....Doedens J.R. (2011)
54. Dyskeratosis congenita--two siblings with a new misse nse mutation in the DKC1 gene. (PubMed id 21736606)¹ Coelho J.D....Apetato M. (2011)
55. Decreased dyskerin levels as a mechanism of telomere shortening in X-linked dyskeratosis congenita. (PubMed id 21415081)¹ Parry E.M....Armanios M. (2011)
56. Dyskerin is required for tumor cell growth through me chanisms that are independent of its role in telomerase and only partially rela ted to its function in precursor rRNA processing. (PubMed id 21480387)¹ Alawi F. and Lin P. (2011)
57. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)¹ Wagner S.A....Choudhary C. (2011)
58. A directed protein interaction network for investigat ing intracellular signal transduction. (PubMed id 21900206)¹ Vinayagam A....Wanker E.E. (2011)
59. Identification of proteins associated with ligand-acti vated estrogen receptor a in human breast cancer cell nuclei by tandem affinity purification and nano LC-MS/MS. (PubMed id 21182205)¹ Tarallo R....Weisz A. (2011)
60. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)¹ Kim W....Gygi S.P. (2011)
61. A recurrent p. A353V mutation in DKC1 responsible for different phenotypes of dyskeratosis congenita in a Chinese family. (PubMed id 21601430)¹ Lai W....Dai S.h.X. (2011)
62. Global identification of modular cullin-RING ligase su bstrates. (PubMed id 21963094)¹ Emanuele M.J....Elledge S.J. (2011)
63. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)¹ Danielsen J.M....Nielsen M.L. (2011)
64. rRNA pseudouridylation defects affect ribosomal ligan d binding and translational fidelity from yeast to human cells. (PubMed id 22099312)¹ Jack K....Dinman J.D. (2011)
65. System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)² Rigbolt K.T....Blagoev B. (2011)
66. Systematic analysis of human protein complexes identi fies chromosome segregation proteins. (PubMed id 20360068)¹ Hutchins J.R....Peters J.M. (2010)
67. Dynamics of cullin-RING ubiquitin ligase network revea led by systematic quantitative proteomics. (PubMed id 21145461)¹ Bennett E.J....Harper J.W. (2010)
68. Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PubMed id 20068231)² Olsen J.V....Mann M. (2010)
69. The protein network surrounding the human telomere re peat binding factors TRF1, TRF2, and POT1. (PubMed id 20811636)¹ Giannone R.J....Liu Y. (2010)
70. Defining the human deubiquitinating enzyme interactio n landscape. (PubMed id 19615732)¹ Sowa M.E....Harper J.W. (2009)
71. Large-scale proteomics analysis of the human kinome. (PubMed id 19369195)² Oppermann F.S.... Daub H. (2009)
72. Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions. (PubMed id 19690332)² Mayya V.... Han D.K. (2009)
73. Quantitative analysis of global ubiquitination in HeLa cells by mass spectrometry. (PubMed id 18781797)¹ Meierhofer D.... Kaiser P. (2008)
74. Large-scale phosphoproteome analysis of human liver tissue by enrichment and fractionation of phosphopeptides with strong anion exchange chromatography. (PubMed id 18318008)² Han G.... Gu J. (2008)
75. Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)¹ Barbe L....Andersson-Svahn H. (2008)
76. Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle. (PubMed id 18691976)² Daub H.... Mann M. (2008)
77. A quantitative atlas of mitotic phosphorylation. (PubMed id 18669648)² Dephoure N.... Gygi S.P. (2008)
78. DKC1 is a direct and conserved transcriptional target of c-MYC. (PubMed id 17822678)¹ Alawi F. and Lee M.N. (2007)
79. Purification of human telomerase complexes identifies factors involved in telomerase biogenesis and telomere length regulation. (PubMed id 18082603)¹ Fu D. and Collins K. (2007)
80. Toward a global characterization of the phosphoproteome in prostate cancer cells: identification of phosphoproteins in the LNCaP cell line. (PubMed id 17487921)² Giorgianni F.... Beranova-Giorgianni S. (2007)
81. Functional specialization of beta-arrestin interactions revealed by proteomic analysis. (PubMed id 17620599)¹ Xiao K....Lefkowitz R.J. (2007)
82. 14-3-3sigma controls mitotic translation to facilitate cytokinesis. (PubMed id 17361185)¹ Wilker E.W....Yaffe M.B. (2007)
83. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)¹ Kimura K.... Sugano S. (2006)
84. Phosphoproteome analysis of the human mitotic spindle. (PubMed id 16565220)¹ Nousiainen M.... Koerner R. (2006)
85. The LIFEdb database in 2006. (PubMed id 16381901)¹ Mehrle A....Wiemann S. (2006)
86. The DNA sequence of the human X chromosome. (PubMed id 15772651)² Ross M.T.... Bentley D.R. (2005)
87. Nucleolar proteome dynamics. (PubMed id 15635413)¹ Andersen J.S....Mann M. (2005)
88. Global phosphoproteome of HT-29 human colon adenocarcinoma cells. (PubMed id 16083285)¹ Kim J.-E.... White F.M. (2005)
89. A human protein-protein interaction network: a resource for annotating the proteome. (PubMed id 16169070)¹ Stelzl U.... Wanker E.E. (2005)
90. Rescue of an hTERT mutant defective in telomere elongation by fusion with hPot1. (PubMed id 15060173)¹ Armbruster B.N....Counter C.M. (2004)
91. Large-scale characterization of HeLa cell nuclear phosphoproteins. (PubMed id 15302935)¹ Beausoleil S.A....Gygi S.P. (2004)
92. From ORFeome to biology: a functional genomics pipeline. (PubMed id 15489336)¹ Wiemann S....Poustka A. (2004)
93. Differential regulation of telomerase activity by six telomerase subunits. (PubMed id 12135483)¹ Chang J.T....Cheng A.J. (2002)
94. Directed proteomic analysis of the human nucleolus. (PubMed id 11790298)¹ Andersen J.S.... Lamond A.I. (2002)
95. Basal transcription activity of the dyskeratosis congenita gene is mediated by Sp1 and Sp3 and a patient mutation in a Sp1 binding site is associated with decreased promoter activity. (PubMed id 12137939)¹ Salowsky R....Poustka A. (2002)
96. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)¹ Strausberg R.L....Marra M.A. (2002)
97. Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing. (PubMed id 11256614)¹ Simpson J.C.... Wiemann S. (2000)
98. Overlap of dyskeratosis congenita with the Hoyeraal-Hreidarsson syndrome. (PubMed id 10700698)¹ Yaghmai R....Metzenberg A. (2000)
99. DNA cloning using in vitro site-specific recombination. (PubMed id 11076863)¹ Hartley J.L....Brasch M.A. (2000)
100. Dyskeratosis congenita caused by a 3' deletion: germline and somatic mosaicism in a female carrier. (PubMed id 10438713)¹ Vulliamy T.J....Mason P.J. (1999)
101. Dyskeratosis congenita: new clinical and molecular insights into ribosome function. (PubMed id 10217077)¹ McGrath J.A. (1999)
102. Skewed X-chromosome inactivation in female carriers of dyskeratosis congenita. (PubMed id 9042917)¹ Devriendt K....Fryns J.P. (1997)
103. Normalization and subtraction: two approaches to facilitate gene discovery. (PubMed id 8889548)¹ Bonaldo M.F.... Soares M.B. (1996)
104. The Hoyeraal-Hreidarsson syndrome: the fourth case of a separate entity with prenatal growth retardation, progressive pancytopenia and cerebellar hypoplasia. (PubMed id 7607282)¹ Aalfs C.M....Hennekam R.C. (1995)
105. Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides. (PubMed id 8125298)¹ Maruyama K. and Sugano S. (1994)
106. Dyskeratosis Congenita (PubMed id 20301779)¹ Savage S.A. (1993)
107. Dyskerin expression influences the level of ribosomal RNA pseudo-uridylation and telomerase RNA component in human breast cancer. (PubMed id 16841302)⁹ Montanaro L....Derenzini M. (2006)
108. Dyskerin is a component of the Arabidopsis telomerase RNP required for telomere maintenance. (PubMed id 18212040)⁹ Kannan K....Shippen D.E. (2008)
109. Mouse dyskerin mutations affect accumulation of telomerase RNA and small nucleolar RNA, telomerase activity, and ribosomal RNA processing. (PubMed id 15240872)⁹ Mochizuki Y....Mason P.J. (2004)
110. Dyskerin, telomerase and the DNA damage response. (PubMed id 19106610)⁹ Gu B....Mason P.J. (2009)
111. Analysis of epitope-tagged forms of the dyskeratosis congenital protein (dyskerin): identification of a nuclear localization signal. (PubMed id 10744426)⁹ Youssoufian H....Qatanani M. (1999)
112. Anomalous electrophoretic migration of newly synthesi zed ribosomal RNAs and their precursors from cells with DKC1 mutations. (PubMed id 19729012)⁹ Gu B.W....Mason P.J. (2009)
113. Mutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenita. (PubMed id 18523010)⁹ Vulliamy T....Dokal I. (2008)
114. Dyskeratosis congenita: advances in the understanding of the telomerase defect and the role of stem cell transplantation. (PubMed id 17663679)⁹ de la Fuente J. and Dokal I. (2007)
115. DKC1 gene mutation in a Taiwanese kindred with X-linked dyskeratosis congenita. (PubMed id 12513020)⁹ Lin J.H....Chao S.C. (2002)
116. Identification of DKC1 gene mutations in Japanese patients with X-linked dyskeratosis congenita. (PubMed id 15842668)⁹ Kanegane H....Miyawaki T. (2005)
117. A novel missense mutation in the DKC1 gene in a Japanese family with X-linked dyskeratosis congenita. (PubMed id 12186364)⁹ Hiramatsu H....Okuno T. (2002)
118. One novel and two recurrent missense DKC1 mutations in patients with dyskeratosis congenita (DKC). (PubMed id 11491307)⁹ Heiss N.S....Poustka A. (2001)
119. Identification of DKC1 gene mutation in an Indian pat ient. (PubMed id 20091372)⁹ Tamhankar P.M....Phadke S.R. (2010)
120. Atypical X-chromosome inactivation in an X;1 translocation patient demonstrating Xq28 functional disomy. (PubMed id 19215059)⁹ Cottrell C.E....Gastier-Foster J.M. (2009)
121. [Clinical and genetic characteristics of a patient wi th dyskeratosis congenita] (PubMed id 20079002)⁹ Li J.G....Wang T.Y. (2009)
122. [Dyskeratosis congenita, a disease caused by defective telomere maintenance] (PubMed id 18405638)⁹ Hoareau-Aveilla C....Leblanc T. (2008)
123. Dynamic association and localization of human H/ACA RNP proteins. (PubMed id 17135485)⁹ Kittur N....Meier U.T. (2006)
124. Telomerase RNA mutated in autosomal dyskeratosis congenita reconstitutes a weakly active telomerase enzyme defective in telomere elongation. (PubMed id 15753647)⁹ Cerone M.A....Autexier C. (2005)
125. Dyskeratosis congenita. (PubMed id 12737310)⁹ Marrone A. and Mason P.J. (2003)
126. Dyskeratosis congenita: its link to telomerase and aplastic anaemia. (PubMed id 14556776)⁹ Dokal I. and Vulliamy T. (2003)
127. The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita. (PubMed id 11574891)⁹ Vulliamy T....Dokal I. (2001)
128. [Genetic analysis of a patient with dyskeratosis congenita] (PubMed id 10921354)⁹ Yoshimoto T....Nunoi H. (2000)
129. Specificity and stoichiometry of subunit interactions in the human telomerase holoenzyme assembled in vivo. (PubMed id 20351177)⁹ Egan E.D. and Collins K. (2010)
130. Deregulation of oncogene-induced senescence and p53 t ranslational control in X-linked dyskeratosis congenita. (PubMed id 20453831)⁹ Bellodi C....Ruggero D. (2010)
131. Dyskeratosis congenita, stem cells and telomeres. (PubMed id 19419704)⁹ Kirwan M. and Dokal I. (2009)
132. Exogenous TERC alone can enhance proliferative potential, telomerase activity and telomere length in lymphocytes from dyskeratosis congenita patients. (PubMed id 19036115)⁹ Kirwan M....Dokal I. (2009)
133. An atypical form of dyskeratosis congenita with renal agenesis and no mutation in DKC1, TERC and TERT genes. (PubMed id 19415813)⁹ Balci S....Vulliamy T. (2009)
134. Changes in the expression of telomere maintenance genes suggest global telomere dysfunction in B-chronic lymphocytic leukemia. (PubMed id 18077792)⁹ Poncet D....Gilson E. (2008)
135. TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita. (PubMed id 18252230)⁹ Savage S.A....Alter B.P. (2008)
136. [Abnormality of telomere maintenance linked to bone marrow failures] (PubMed id 18326318)⁹ Yamaguchi H. (2008)
137. Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase-associated protein NOP10. (PubMed id 17507419)⁹ Walne A.J....Dokal I. (2007)
138. Telomerase reverse-transcriptase homozygous mutations in autosomal recessive dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome. (PubMed id 17785587)⁹ Marrone A....Dokal I. (2007)
139. Crystal structure of a Cbf5-Nop10-Gar1 complex and implications in RNA-guided pseudouridylation and dyskeratosis congenita. (PubMed id 16427014)⁹ Rashid R....Li H. (2006)
140. Dyskeratosis congenita. (PubMed id 16140563)⁹ Handley T.P....Ogden G.R. (2006)
141. Dyskeratosis congenita: telomerase, telomeres and anticipation. (PubMed id 15917199)⁹ Marrone A....Dokal I. (2005)
142. Dyskeratosis congenita -- a disease of dysfunctional telomere maintenance. (PubMed id 15974869)⁹ Mason P.J....Bessler M. (2005)
143. Dyskeratosis congenita: a disorder of defective telomere maintenance? (PubMed id 16207588)⁹ Walne A.J....Dokal I. (2005)
144. Telomerase dysfunction and dyskeratosis congenita. (PubMed id 19003239)⁹ Walne A.J. and Dokal I. (2004)
145. Dyskeratosis congenita and telomerase. (PubMed id 14758110)⁹ Bessler M....Mason P.J. (2004)
146. Enhanced telomere shortening in transformed lymphoblasts from patients with X linked dyskeratosis. (PubMed id 12890806)⁹ Montanaro L....Derenzini M. (2003)
147. Missense mutation in a patient with X-linked dyskeratosis congenita. (PubMed id 12681984)⁹ Kraemer D.M. and Goebeler M. (2003)
148. Increased mortality rate and not impaired ribosomal biogenesis is responsible for proliferative defect in dyskeratosis congenita cell lines. (PubMed id 11851894)⁹ Montanaro L....Derenzini M. (2002)
149. Immunopurified small nucleolar ribonucleoprotein particles pseudouridylate rRNA independently of their association with phosphorylated Nopp140. (PubMed id 12446766)⁹ Wang C....Meier U.T. (2002)
150. Very short telomeres in the peripheral blood of patients with X-linked and autosomal dyskeratosis congenita. (PubMed id 11259155)⁹ Vulliamy T.J....Dokal I. (2001)
151. Stable expression in yeast of the mature form of human telomerase RNA depends on its association with the box H/ACA small nucleolar RNP proteins Cbf5p, Nhp2p and Nop10p. (PubMed id 11160879)⁹ Dez C....Henry Y. (2001)
152. X-linked dyskeratosis congenita: restrictive pulmonary disease and a novel mutation. (PubMed id 11641517)⁹ Safa W.F....Frossard P.M. (2001)
153. Mutation analysis of the DKC1 gene in incontinentia p igmenti. (PubMed id 10636732)⁹ Heiss N.S....Kenwrick S. (1999)
154. Mutant dyskerin ends relationship with telomerase. (PubMed id 10636790)⁹ Shay J.W. and Wright W.E. (1999)
155. Dyskeratosis Congenita (DC) Registry: identification of new features of DC. (PubMed id 9886310)⁹ Knight S....Dokal I. (1998)
156. Expression profile of significant immortalization gen es in colon cancer. (PubMed id 20127035)⁹ Witkowska A....Mazurek U. (2010)
157. [Molecular diagnosis and therapeutic measures in pati ents with dyskeratosis congenita] (PubMed id 20153999)⁹ Reiger Z....Erdos M. (2010)
158. Dyskeratosis congenita: a case report. (PubMed id 19615640)⁹ Abdel-Karim A....Yeoman C.M. (2009)
159. Human miRNA precursors with box H/ACA snoRNA features . (PubMed id 19763159)⁹ Scott M.S....Barton G.J. (2009)
160. Telomerase deficiency and cancer susceptibility syndr omes. (PubMed id 19917533)⁹ Perona R....Carrillo J. (2009)
161. Variable expression of Dkc1 mutations in mice. (PubMed id 19391112)⁹ He J....Mason P.J. (2009)
162. The loss of the snoRNP chaperone Nopp140 from Cajal bodies of patient fibroblasts correlates with the severity of spinal muscular atrophy. (PubMed id 19129172)⁹ RenvoisAc B....Lefebvre S. (2009)
163. Advances in the understanding of dyskeratosis congeni ta. (PubMed id 19208095)⁹ Walne A.J. and Dokal I. (2009)
164. NOLA1 gene mutations in acquired aplastic anemia. (PubMed id 18989882)⁹ Pigullo S....Dufour C. (2008)
165. TINF2 mutations result in very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes. (PubMed id 18669893)⁹ Walne A.J....Dokal I. (2008)
166. Telomere maintenance and human bone marrow failure. (PubMed id 18239083)⁹ Calado R.T. and Young N.S. (2008)
167. Dyskeratosis congenita: the diverse clinical presenta tion of mutations in the telomerase complex. (PubMed id 17825470)⁹ Vulliamy T.J. and Dokal I. (2008)
168. Telomerase subunits expression variation between biopsy samples and cell lines derived from malignant glioma. (PubMed id 17196947)⁹ Shervington A....Shervington L. (2007)
169. Very short telomere length by flow fluorescence in situ hybridization identifies patients with dyskeratosis congenita. (PubMed id 17468339)⁹ Alter B.P....Lansdorp P.M. (2007)
170. Biogenesis and intranuclear trafficking of human box C/D and H/ACA RNPs. (PubMed id 17381323)⁹ Kiss T....Weber M. (2006)
171. Advances in understanding the genetic basis for bone-marrow failure. (PubMed id 16470156)⁹ Lieberman L. and Dror Y. (2006)
172. [Dyskeratosis congenita in a 40-year-old patient] (PubMed id 15789197)⁹ Benoit S....Goebeler M. (2006)
173. Mutations in dyskeratosis congenita: their impact on telomere length and the diversity of clinical presentation. (PubMed id 16332973)⁹ Vulliamy T.J....Dokal I. (2006)
174. The many facets of H/ACA ribonucleoproteins. (PubMed id 15770508)⁹ Meier U.T. (2005)
175. Gene expression dose-response changes in microarrays after exposure of human peripheral lung epithelial cells to nickel(II). (PubMed id 12915101)⁹ Cheng R.Y....Kasprzak K.S. (2003)
176. Two brothers with findings resembling congenital intrauterine infection-like syndrome (pseudo-TORCH syndrome). (PubMed id 12833411)⁹ Knoblauch H....Tinschert S. (2003)
177. Further delineation of the congenital form of X-linked dyskeratosis congenita (Hoyeraal-Hreidarsson syndrome). (PubMed id 14648217)⁹ Sznajer Y....Verloes A. (2003)
178. Cloning and characterization of Arabidopsis thaliana AtNAP57--a homologue of yeast pseudouridine synthase Cbf5p. (PubMed id 11833778)⁹ Maceluch J....Jarmol/owski A. (2001)

External Searches for DKC1 gene

Genome Databases showing DKC1 gene

Other Databases showing DKC1 gene

Specialized Databases showing DKC1 gene

Products
for DKC1 gene