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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

COL28A1 Gene

protein-coding   GIFtS: 48
GCID: GC07M007364

collagen, type XXVIII, alpha 1

  Search for COL28A1
in our new
 Human Malady Compendium 
Biological research products
for COL28A1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Collagen, Type XXVIII, Alpha 11 2
COL282 3
Collagen Alpha-1(XXVIII) Chain2

External Ids:    HGNC: 224421   Entrez Gene: 3402672   Ensembl: ENSG000002150187   OMIM: 6099965   UniProtKB: Q2UY093   

Export aliases for COL28A1 gene to outside databases

Previous GC identifer: GC07M007246


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for COL28A1:
COL28A1 belongs to a class of collagens containing von Willebrand factor (VWF; MIM 613160) type A (VWFA) domains (Veit
et al., 2006 (PubMed 16330543)).(supplied by OMIM, Nov 2010)

UniProtKB/Swiss-Prot: COSA1_HUMAN, Q2UY09
Function: May act as a cell-binding protein

Gene Wiki entry for COL28A1


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000007.13  NC_018918.1  NT_007819.17  NT_079592.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the COL28A1 gene promoter:
         POU2F1   HNF-1   POU2F1b   POU2F1a   POU2F1c   CUTL1   HNF-1A   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): COL28A1 promoter sequence
   Search SABiosciences Chromatin IP Primers for COL28A1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat COL28A1


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

Entrez Gene cytogenetic band: 7p21.3   Ensembl cytogenetic band:  7p21.3   HGNC cytogenetic band: 7p21.3

COL28A1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
COL28A1 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07M007364:  view genomic region     (about GC identifiers)

Start:
7,395,834 bp from pter      End:
7,575,484 bp from pter
Size:
179,651 bases      Orientation:
minus strand

1 alternative location:
Chr7-,CRA_TCAG 7,445,378-7,622,650     

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: COSA1_HUMAN, Q2UY09 (See protein sequence)
Recommended Name: Collagen alpha-1(XXVIII) chain precursor  
Size: 1125 amino acids; 116657 Da
Subunit: Trimer or homomer. Secreted into as a 135 kDa monomer under reducing conditions and as a homotrimer under
non-reducing conditions (By similarity)
Subcellular location: Secreted, extracellular space, extracellular matrix, basement membrane (By similarity)
Sequence caution: Sequence=EAL24305.1; Type=Erroneous gene model prediction; Sequence=EAL24306.1; Type=Erroneous gene
model prediction; Sequence=EAL24307.1; Type=Erroneous gene model prediction;
Secondary accessions: A4D101 A4D106 A4D107 A8MVR2 B9EGX9 Q2UY07 Q2UY08
Alternative splicing: 3 isoforms:  Q2UY09-1   Q2UY09-2   Q2UY09-3   

Explore the universe of human proteins at neXtProt for COL28A1: NX_Q2UY09

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q2UY09

  • COL28A1 Protein expression data from MOPED and PaxDb:    About this image 
    COL28A1 Protein Expression
    REFSEQ proteins: NP_001032852.2  
    ENSEMBL proteins: 
     ENSP00000413093   ENSP00000391380   ENSP00000382356   ENSP00000408401   ENSP00000410557  
    Reactome Protein details: Q2UY09
    Human Recombinant Protein Products for COL28A1: 
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    Uscn Proteins for COL28A1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005581collagen IEA--
    GO:0005604basement membrane IEA--
    GO:0005788endoplasmic reticulum lumen TAS--

    COL28A1 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for COL28A1


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    COL28A1 for domains           About GeneDecksing

    4 InterPro domains/families:
     IPR002223 Prot_inh_Kunz-m
     IPR020901 Prtase_inh_Kunz-CS
     IPR008160 Collagen
     IPR002035 VWF_A

    Graphical View of Domain Structure for InterPro Entry Q2UY09

    ProtoNet protein and cluster: Q2UY09

    2 Blocks protein families:
    IPB008160 Collagen triple helix repeat
    IPB008161 Collagen helix repeat


    UniProtKB/Swiss-Prot: COSA1_HUMAN, Q2UY09
    Similarity: Belongs to the VWA-containing collagen family
    Similarity: Contains 1 BPTI/Kunitz inhibitor domain
    Similarity: Contains 6 collagen-like domains
    Similarity: Contains 2 VWFA domains


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: COSA1_HUMAN, Q2UY09
    Function: May act as a cell-binding protein

         Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004867serine-type endopeptidase inhibitor activity IEA--
         
    COL28A1 for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for COL28A1 

    miRNA
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COL28A1


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Collagen formation
    Collagen formation1.00
    Extracellular matrix organization0.54
    Collagen biosynthesis and modifying enzymes0.74
    Secretion of collagens0.49

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    4        Reactome Pathways for COL28A1
        Extracellular matrix organization
    Secretion of collagens
    Collagen biosynthesis and modifying enzymes
    Collagen formation



    COL28A1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for COL28A1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/41 Interacting proteins for COL28A1 (ENSP000003823564) via UniProtKB, MINT, STRING, and/or I2D (see all 41)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    COL10A1ENSP000002432224STRING: ENSP00000243222
    COL11A1ENSP000003511634STRING: ENSP00000351163
    COL13A1ENSP000003486954STRING: ENSP00000348695
    COL15A1ENSP000003641404STRING: ENSP00000364140
    COL16A1ENSP000003627764STRING: ENSP00000362776
    About this table

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007155cell adhesion IEA--
    GO:0030198extracellular matrix organization TAS--

    COL28A1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for COL28A1
    Search CenterWatch for drugs/clinical trials and news about COL28A1 / COSA1 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for COL28A1 gene: 
    NM_001037763.2  

    Unigene Cluster for COL28A1:

    Collagen, type XXVIII, alpha 1
    Hs.491104  [show with all ESTs]
    Unigene Representative Sequence: BC144431
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000430711 ENST00000453441 ENST00000399429(uc003src.1 uc011jxe.1)
    ENST00000444268(uc003srd.3) ENST00000465339 ENST00000435823(uc003sre.1)


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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat COL28A1

    Additional cDNA sequence: 

    AJ890451.1 AJ890452.1 BC063866.1 BC136892.1 BC144431.1 

    5 DOTS entries:

    DT.40127901  DT.75118966  DT.75140475  DT.97769621  DT.75200318 

    2 AceView cDNA sequences:

    BQ723483 BQ888940 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    COL28A1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TAAAACTCTA
    COL28A1 Expression
    About this image

    COL28A1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table

    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    Pancreatic endoderm/endocrine precursor-like cells (A scalable, suspensi...)
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See COL28A1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for COL28A1

    SOURCE GeneReport for Unigene cluster: Hs.491104
        SABiosciences Custom PCR Arrays for COL28A1
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COL28A1

    (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)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for COL28A1 gene from 3/6 species (see all 6)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves COL28A11 collagen, type XXVIII, alpha 1 63.08(n)
    55.52(a)
      420576  XM_418677.2  XP_418677.2 
    lizard
    (Anolis carolinensis)
    Reptilia COL28A16
    --
    60(a)
    1 ↔ 1
    6(23589408-23655944)
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1003322251 collagen alpha-1(XXVIII) chain-like 56.85(n)
    50.24(a)
      100332225  XM_002665030.2  XP_002665076.2 


    ENSEMBL Gene Tree for COL28A1 (if available)
    TreeFam Gene Tree for COL28A1 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for COL28A1 gene
    COL6A12  COL6A62  COL6A22  COL6A52  COL6A32  
    18/21 SIMAP similar genes for COL28A1 using alignment to 3 protein entries:     COSA1_HUMAN (see all proteins) (see all similar genes):
    PAPLN    ITIL    COL21A1    TFPI2    SPINT3    TFPI
    APLP2    SPINT1    SPINT4    SPINT2    C1QTNF9    C1QTNF9B
    COL25A1    COL10A1    COL3A1    COL9A2    COL1A2    COL5A1

    COL28A1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/3899 NCBI SNPs in COL28A1 are shown (see all 3899    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs776016121,2
    F--7397758(+) CGACTC/GCTATC 1 -- ds50011Minor allele frequency- G:0.08WA 118
    rs1837452371,2
    --7397776(+) TCCTGC/TGTAAA 1 -- ds50010--------
    rs9774321,2
    C,F,H--7397843(+) TACTGT/CGAGGG 1 -- ds500128Minor allele frequency- C:0.06MN NS EA NA WA CSA 2347
    rs1454401211,2
    --7397863(+) GGTTAA/GGGAGG 1 -- ds50010--------
    rs733452081,2
    C--7397921(+) ACATAG/ATACAT 1 -- ds50012Minor allele frequency- A:0.04WA 120
    rs1116357501,2
    --7397925(+) AGTACG/ATACAA 1 -- ds50011Minor allele frequency- A:0.50CSA 2
    rs798879991,2
    F--7397927(+) TACATA/GCAACA 1 -- ds50011Minor allele frequency- G:0.03NA 120
    rs1149245921,2
    F--7398046(+) GGGTGA/GCAGTT 1 -- ds50011Minor allele frequency- G:0.03WA 118
    rs121552911,2
    C,H--7398110(+) AATAAT/GATGTA 1 -- ds50014Minor allele frequency- G:0.00NS EA 420
    rs1159461131,2
    F--7398153(+) TGTATA/CAGTTG 1 -- ds50011Minor allele frequency- C:0.03WA 118

    HapMap Linkage Disequilibrium report for COL28A1 (7395834 - 7575484 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 10 variations for COL28A1
         8 CNVs: 99857 9044 8546 64750 2099 2674 3663 94362
         2 Indels: 47393 12906

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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.)
    About This Section

    COL28A1 for disorders           About MalaCards

    COL28A1 for disorders           About GeneDecksing

    OMIM gene information: 609996    OMIM disorders: --

    Human Genome Epidemiology (HuGE) Navigator: COL28A1 (4 documents)

    Export disorders for COL28A1 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)
    About This Section

    PubMed articles for COL28A1 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with COL28A1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Collagen XXVIII, a novel von Willebrand factor A domain-containing protein with many imperfections in the collagenous domain. (PubMed id 16330543)1, 2, 3, 9 Veit G.... Wagener R. (2006)
    2. Human chromosome 7: DNA sequence and biology. (PubMed id 12690205)1, 2 Scherer S.W.... Tsui L.-C. (2003)
    3. Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients. (PubMed id 22610502)1 Kennedy R.B....Poland G.A. (2012)
    4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
    5. A genome-wide meta-analysis identifies novel loci ass ociated with schizophrenia and bipolar disorder. (PubMed id 20889312)1 Wang K.S....Aragam N. (2010)
    6. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1 Bailey S.D....Anand S. (2010)
    7. Gene-centric association signals for lipids and apoli poproteins identified via the HumanCVD BeadChip. (PubMed id 19913121)1 Talmud P.J.... . (2009)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
    9. The DNA sequence of human chromosome 7. (PubMed id 12853948)2 Hillier L.W.... Wilson R.K. (2003)
    10. 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)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 340267 HGNC: 22442 AceView: LOC340267 Ensembl:ENSG00000215018 euGenes: HUgn340267
    ECgene: COL28A1 H-InvDB: COL28A1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for COL28A1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for COL28A1 gene:
    Search GeneIP for patents involving COL28A1

    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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