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NOTO Gene

protein-coding   GIFtS: 31
GCID: GC02P073429

Notochord Homeobox

(Previous name: notochord homolog (Xenopus laevis))
  See NOTO-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Notochord Homeobox1 2
Notochord Homolog (Xenopus Laevis)1
Homeobox Protein Notochord2
Notochord Homolog2

External Ids:    HGNC: 318391   Entrez Gene: 3440222   Ensembl: ENSG000002145137   UniProtKB: A8MTQ03   

Export aliases for NOTO gene to outside databases

Previous GC identifers: GC02P073341 GC02P073283 GC02P073165


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for NOTO Gene:
NOTO (notochord homeobox) is a protein-coding gene. Diseases associated with NOTO include diphyllobothriasis, and central sleep apnea. GO annotations related to this gene include sequence-specific DNA binding and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is EN1.

UniProtKB/Swiss-Prot: NOTO_HUMAN, A8MTQ0
Function: Transcription regulator acting downstream of both FOXA2 and T during notochord development. Required for
node morphogenesis. Is essential for cilia formation in the posterior notochord (PNC) and for left-right
patterning; acts upstream of FOXJ1 and RFX3 in this process and is required for the expression of various
components important for axonemal assembly and function. Plays a role in regulating axial versus paraxial cell
fate (By similarity)




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:
   Regulatory transcription factor binding sites in the NOTO gene promoter:
         HFH-3   NF-1/L   NF-1   GR-beta   Nkx2-5   HNF-3beta   GATA-2   FOXI1   HEN1   GR-alpha   
         Other transcription factors

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Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat NOTO


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2p13.2   Ensembl cytogenetic band:  2p13.2   HGNC cytogenetic band: 2p13.2

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

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P073429:  view genomic region     (about GC identifiers)

Start:
73,429,386 bp from pter      End:
73,439,641 bp from pter
Size:
10,256 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: NOTO_HUMAN, A8MTQ0 (See protein sequence)
Recommended Name: Homeobox protein notochord  
Size: 251 amino acids; 27003 Da
Secondary accessions: B4DJ59 B7ZAU5

Explore the universe of human proteins at neXtProt for NOTO: NX_A8MTQ0

Explore proteomics data for NOTO at MOPED


See NOTO Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_001127934.1  
ENSEMBL proteins: 
 ENSP00000381486  

NOTO Human Recombinant Protein Products:

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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HGNC Gene Families:
NKL: Homeoboxes / ANTP class : NKL subclass

2 InterPro protein domains:
 IPR001356 Homeobox_dom
 IPR009057 Homeodomain-like

Graphical View of Domain Structure for InterPro Entry A8MTQ0

ProtoNet protein and cluster: A8MTQ0

UniProtKB/Swiss-Prot: NOTO_HUMAN, A8MTQ0
Similarity: Contains 1 homeobox DNA-binding domain


Find genes that share domains with NOTO           About GenesLikeMe


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

     UniProtKB/Swiss-Prot Summary: NOTO_HUMAN, A8MTQ0
Function: Transcription regulator acting downstream of both FOXA2 and T during notochord development. Required for
node morphogenesis. Is essential for cilia formation in the posterior notochord (PNC) and for left-right
patterning; acts upstream of FOXJ1 and RFX3 in this process and is required for the expression of various
components important for axonemal assembly and function. Plays a role in regulating axial versus paraxial cell
fate (By similarity)

     Gene Ontology (GO): 3 molecular function terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0003677DNA binding ----
GO:0003700sequence-specific DNA binding transcription factor activity IEA--
GO:0043565sequence-specific DNA binding IEA--
     
Find genes that share ontologies with NOTO           About GenesLikeMe


Phenotypes:
     1 GenomeRNAi human phenotype for NOTO:
 Increased HPV18 LCR reporter a 

     7 MGI mutant phenotypes (inferred from 5 alleles(MGI details for Noto):
 behavior/neurological  cardiovascular system  embryogenesis  limbs/digits/tail  mortality/aging 
 nervous system  skeleton 

Find genes that share phenotypes with NOTO           About GenesLikeMe

Animal Models:
   genOway: Develop your customized and physiologically relevant rodent model for NOTO

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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot
NOTO_HUMAN, A8MTQ0: Nucleus (By similarity)
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
nucleus3
cytosol2
golgi apparatus1
mitochondrion1
peroxisome1

Gene Ontology (GO): 1 cellular component term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005634nucleus IEA--

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(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for NOTO
Interactions:

    Search GeneGlobe Interaction Network for NOTO

Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0006351transcription, DNA-templated IEA--
GO:0006355regulation of transcription, DNA-templated ----
GO:0007368determination of left/right symmetry IEA--
GO:0009880embryonic pattern specification IEA--
GO:0009953dorsal/ventral pattern formation IEA--

Find genes that share ontologies with NOTO           About GenesLikeMe



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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  Browse compounds at ApexBio 

Browse Tocris compounds for NOTO



(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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REFSEQ mRNAs for NOTO gene: 
NM_001134462.1  

1 Ensembl transcript including schematic representation, and UCSC links where relevant:
ENST00000398468(uc010yrd.2)
miRNA
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  QuantiFast Probe-based Assays in human, mouse, rat NOTO

GeneLoc Exon Structure


(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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NOTO expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: --
NOTO Expression
About this image


NOTO expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database
 selected tissues (see all 2) fully expand
 
 Primitive Streak (Early Embryonic Tissues)    fully expand to see all 3 entries
         Notochord Cells Notochord
         Primitive Streak
 
 Cartilage (Muscoskeletal System)
         Notochord Cells Notochord
NOTO Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

NOTO Protein Expression
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In Situ
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(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of animals.

Orthologs for NOTO gene from Selected species (see all 11)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Noto1 , 5 notochord homolog (Xenopus laevis)1, 5 68.9(n)1
59.37(a)1
  6 (37.44 cM)5
3844521  NM_001007472.21  NP_001007473.11 
 854238865 
chicken
(Gallus gallus)
Aves GNOT16
Gallus gallus Gnot1 homeodomain protein (GNOT1), m...
35(a)
many ↔ many
4(89237871-89241342)
lizard
(Anolis carolinensis)
Reptilia --
--
45(a)
many ↔ many
GL343574.1(240952-244196)
African clawed frog
(Xenopus laevis)
Amphibia LOC3979612 Xnot protein 73.37(n)    Z19577.1 
zebrafish
(Danio rerio)
Actinopterygii flh6
floating head
24(a)
many ↔ many
13(14837121-14839117) ENSDARG00000021201
fruit fly
(Drosophila melanogaster)
Insecta CG185996
--
14(a)
1 → many
3R(14093510-14096895)


ENSEMBL Gene Tree for NOTO (if available)
TreeFam Gene Tree for NOTO (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for NOTO gene
EN12  EMX22  VAX12  EMX12  VAX22  EN22  
4 SIMAP similar genes for NOTO using alignment to 1 protein entry:     NOTO_HUMAN:
HOXC13    NKX2-5    HOXA4    HOXB1

Find genes that share paralogs with NOTO           About GenesLikeMe



(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for NOTO (see all 204)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 2 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1509257081,2
--73163055(+) AGGCTC/GAAGCG 1 -- us2k10--------
rs1838498161,2
--73427393(+) GTGTGC/TACCAC 1 -- us2k10--------
rs118947201,2
C,F,H--73427403(+) ccacaC/Actggc 1 -- us2k11Minor allele frequency- A:0.50CSA 2
rs728099231,2
C,F--73427591(+) GGTGCG/ATGTAT 1 -- us2k11Minor allele frequency- A:0.10NA 120
rs1496904971,2
--73427624(+) ATTTGC/TATTTC 1 -- us2k10--------
rs1881190711,2
--73427698(+) CTTTCA/GCCCAG 1 -- us2k10--------
rs118948771,2
C,F,A,H--73427744(+) acctcC/Tgcctc 1 -- us2k11Minor allele frequency- T:0.50CSA 2
rs1930984661,2
--73427947(+) GCCACC/TGCGCC 1 -- us2k10--------
rs1137783021,2
C,F--73427948(+) CCACCA/GCGCCC 1 -- us2k14Minor allele frequency- G:0.43WA CSA 7
rs1128320711,2
C,F--73428127(+) TCAGGG/AGTTCA 1 -- us2k11Minor allele frequency- A:0.50WA 2

HapMap Linkage Disequilibrium report for NOTO (73429386 - 73439641 bp)

Structural Variations
     Database of Genomic Variants (DGV) 4 variations for NOTO:    About this table    
Variant IDTypeSubtypePubMed ID
esv2720204CNV Deletion23290073
esv2668838CNV Deletion23128226
esv2388236CNV Deletion18987734
nsv2776CNV Loss18451855

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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2 diseases for NOTO:    
About MalaCards
diphyllobothriasis    central sleep apnea

2 diseases from the University of Copenhagen DISEASES database for NOTO:
Diphyllobothriasis     Central sleep apnea

Find genes that share disorders with NOTO           About GenesLikeMe


Export disorders for NOTO gene to outside databases

(in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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PubMed articles for NOTO gene integrated from 10 sources:
(articles sorted by number of sources associating them with NOTO)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)1, 2 Hillier L.W.... Wilson R.K. (Nature 2005)
  2. The mouse homeobox gene Not is required for caudal notochord development and affected by the truncate mutation. (PubMed id 15231714)1, 3 Abdelkhalek H.B....Gossler A. (amp 2004)
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (Nat. Genet. 2004)

(in PubMed, OMIM, and NCBI Bookshelf)
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 ANDOR
Aliases
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 344022 HGNC: 31839 Ensembl:ENSG00000214513 euGenes: HUgn344022 ECgene: NOTO
H-InvDB: NOTO

(According to HUGE)
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  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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NameDescription
PharmGKB entry for NOTO Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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Patent Information for NOTO gene:
Search GeneIP for patents involving NOTO

GeneCards and IP:
Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from genOway)
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 Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

 Novus Tissue Slides
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 Search for Antibodies for NOTO at Abcam
 See all of Abcam's Antibodies, Kits and Proteins for NOTO
 Custom Antibody / Protein Production Service
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 Browse ProSpec Recombinant Proteins
 Proteins for NOTO
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 Browse ESI BIO Cell Lines and PureStem Progenitors for NOTO
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 Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NOTO
 Browse SwitchGear 3'UTR luciferase reporter plasmids for NOTO
 Browse SwitchGear Promoter luciferase reporter plasmids for NOTO
 Search ThermoFisher Antibodies for NOTO
 Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat NOTO
 Browse compounds at ApexBio
 Search Addgene for plasmids for NOTO
  Search eBioscience for proteins for NOTO
  Search eBioscience for elisas for NOTO
  eBioscience FlowRNA Probe Sets
 genOway: Develop your customized and physiologically relevant rodent model for NOTO
 antibodies-online antibodies for NOTO (2 products)
 antibodies-online kits for NOTO (4 products)
 antibodies-online peptides for NOTO
 antibodies-online proteins for NOTO
       
GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014 , 7 Oct 2014

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