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Table 1 Genes regulated in the EBS-DM model keratinocyte cell line KEB7 identified by microarray analysis

From: Whole-transcriptome gene expression profiling in an epidermolysis bullosa simplex Dowling-Meara model keratinocyte cell line uncovered novel, potential therapeutic targets and affected pathways

Microarray candidate genes (accession number)

Regulation microarray

log2 fold-change microarray

Fold-change qRT-PCR

Significance of qRT-PCR (fold-change set −2)

KRT19 (NM_002276)

Significant down-regulated

−5.74

−1633.0

Significant

MIR492 (NR_030171)

Significant down-regulated

−4.46

n.d.

n.d.

KYNU (NM_003937)

Significant down-regulated

−4.20

−276.6

Significant

H19, MIR675 (NR_030533)

Significant down-regulated

−4.12

n.d.

n.d.

EYA4 (NM_004100)

Significant down-regulated

−4.03

n.d.

n.d.

PDZK1 (NM_002614)

Significant down-regulated

−3.86

−8.0

Significant

TMPRSS15 (NM_002772)

Significant down-regulated

−3.85

n.d.

n.d.

OLFM4 (NM_006418)

Significant down-regulated

−3.73

−8.4

Significant

SLC38A4 (NM_018018)

Significant down-regulated

−3.67

−12.3

Significant

BST2 (NM_004335)

Significant down-regulated

−3.53

−137.3

Significant

ITGBL1 (NM_004791)

Significant down-regulated

−2.99

n.d.

n.d.

EDIL3 (NM_005711)

Significant down-regulated

−2.91

n.d.

n.d.

PPARGC1A (NM_013261)

Significant down-regulated

−2.79

−964.3

Significant

GALNT5 (NM_014568)

Significant down-regulated

−2.73

−78.3

Significant

CDR1 (NM_004065)

Significant down-regulated

−2.71

n.d.

n.d.

FKBP10 (NM_021939)

Significant down-regulated

−2.63

−26.8

Significant

GIPC2 (NM_017655)

Significant down-regulated

−2.55

−71.4

Significant

AMOT (NM_001113490)

Significant down-regulated

−2.53

−3015.8

Significant

ZNF114 (NM_153608)

Significant down-regulated

−2.52

−10.2

Significant

CLEC2B (NM_005127)

Significant down-regulated

−2.50

−182.1

Significant

FAM198B (NM_001031700)

Significant down-regulated

−2.50

−14.0

Significant

SLC2A3 (NM_006931)

Significant down-regulated

−2.48

−88.7

Significant

CAPNS2 (NM_032330)

Significant down-regulated

−2.43

−9.0

Significant

TBX18 (NM_001080508)

Significant down-regulated

−2.43

−89.4

Significant

LRCH2 (NM_020871)

Significant down-regulated

−2.36

−44.2

Significant

NEFM (NM_005382)

Significant down-regulated

−2.34

−7.7

Significant

CPT1C (NM_001136052)

Significant down-regulated

−2.32

−13.4

Significant

ZNF43 (NM_001256648)

Significant down-regulated

−2.22

−9.7

Significant

LY75, LY75-CD302 (NM_002349)

Significant down-regulated

−2.17

−8.6

Significant

LOC100129717, NEFL (NM_006158)

Significant down-regulated

−2.16

n.d.

n.d.

GLDC (NM_000170)

Significant down-regulated

−2.14

−307.6

Significant

TMTC1 (NM_001193451)

Significant down-regulated

−2.13

−6.7

Significant

SLCO1B3 (NM_019844)

Significant down-regulated

−2.10

−988.0

Significant

SMOC2 (NM_022138)

Significant down-regulated

−2.09

n.d.

n.d.

SLC6A14 (NM_007231)

Significant down-regulated

−2.02

−4.9

Significant

SLC24A3 (NM_020689)

Significant down-regulated

−1.97

−53.0

Significant

EPSTI1 (NM_001002264)

Significant down-regulated

−1.96

−10.8

Significant

SATB2 (NM_001172509)

Significant down-regulated

−1.94

−224.2

Significant

HSD17B2 (NM_002153)

Significant down-regulated

−1.89

−59.8

Significant

GHR (NM_000163)

Significant down-regulated

−1.87

n.d.

n.d.

TFPI2 (NM_006528)

Significant down-regulated

−1.86

n.d.

n.d.

AKR1B10 (NM_020299)

Significant down-regulated

−1.86

−3.8

Significant

ARHGAP28 (NM_001010000)

Significant down-regulated

−1.81

n.d.

n.d.

LOC100506941, NNMT (NM_006169)

Significant down-regulated

−1.81

n.d.

n.d.

GPC3 (NM_001164617)

Significant down-regulated

−1.81

−427.1

Significant

IFITM3 (JQ610621)

Significant down-regulated

−1.80

−8.7

Significant

HOXD10 (NM_002148)

Significant down-regulated

−1.79

−100.8

Significant

MSX2 (NM_002449)

Significant down-regulated

−1.77

−9.5

Significant

IL17RB (NM_018725)

Significant down-regulated

−1.75

−9.1

Significant

BLMH (NM_000386)

Significant down-regulated

−1.74

−4.8

Significant

SOX2 (NM_003106)

Significant down-regulated

−1.72

n.d.

n.d.

HIST1H

Significant down-regulated

−1.70

n.d.

n.d.

SLC9A2 (NM_003048)

Significant down-regulated

−1.69

−17.0

Significant

CPNE1, RBM12 (NM_006047)

Significant down-regulated

−1.68

−14.9

Significant

WDR17 (NM_170710)

Significant down-regulated

−1.60

−11.2

Significant

RB1 (NM_000321)

Significant down-regulated

−1.58

−4.4

Significant

DPYD (NM_000110)

Significant down-regulated

−1.57

−3.7

Significant

PCCA (NM_000282)

Significant down-regulated

−1.56

n.d.

n.d.

ZNF570 (NM_001300993)

Significant down-regulated

−1.51

n.d.

n.d.

PRTFDC1 (NM_020200)

Significant down-regulated

−1.49

n.d.

n.d.

GLRX (NM_002064)

Significant down-regulated

−1.47

−2.8

Significant

SLC7A2 (NM_003046)

Significant down-regulated

−1.45

−1.5

Non-significant

PPP1R16B (NM_015568)

Significant down-regulated

−1.44

−8.0

Significant

IKZF3 (NM_012481)

Significant down-regulated

−1.41

−1.8

Non-significant

GTF2H2D

Significant down-regulated

−1.40

−4.2

Significant

CDK14 (NM_001287135)

Significant down-regulated

−1.40

n.d.

n.d.

REPS2 (NM_004726)

Significant down-regulated

−1.38

−4.5

Significant

MEST (NM_002402)

Significant down-regulated

−1.38

n.d.

n.d.

CYP4V2 (NM_207352)

Significant down-regulated

−1.35

−4.7

Significant

GPR143 (NM_000273)

Significant down-regulated

−1.35

−2.1

Significant

GTF2H2 (NM_001515)

Significant down-regulated

−1.35

−4.0

Significant

CYP7B1 (NM_004820)

Significant down-regulated

−1.32

n.d.

n.d.

BCL11A (NM_022893)

Significant down-regulated

−1.31

−3.6

Significant

MERTK (NM_006343)

Significant down-regulated

−1.30

−5.0

Significant

PRDM5 (NM_018699)

Significant down-regulated

−1.28

−6.1

Significant

ACOXL (NM_001142807)

Significant down-regulated

−1.28

−11.6

Significant

AHCY (NM_000687)

Significant down-regulated

−1.27

−2.0

Significant

ARMCX2 (NM_177949)

Significant down-regulated

−1.24

−22.5

Significant

PAX6 (NM_000280)

Significant down-regulated

−1.23

−14.2

Significant

HOXD11 (NM_021192)

Significant down-regulated

−1.23

−49.4

Significant

SMARCA1 (NM_003069)

Significant down-regulated

−1.22

−4.1

Significant

IFI44L (NM_006820)

Significant down-regulated

−1.22

−57.0

Significant

GALNTL4

Significant down-regulated

−1.20

n.d.

n.d.

PITRM1 (NM_001242307)

Significant down-regulated

−1.19

−2.3

Significant

CRIP2 (NM_001312)

Significant down-regulated

−1.18

n.d.

n.d.

NAP1L5 (NM_153757)

Significant down-regulated

−1.15

−20.7

Significant

IPO7 (NM_006391)

Significant down-regulated

−1.15

n.d.

n.d.

SAAL1 (NM_138421)

Significant down-regulated

−1.13

n.d.

n.d.

KRTCAP3 (NM_001168364)

Significant down-regulated

−1.12

n.d.

n.d.

FAM159A (NM_001042693)

Significant down-regulated

−1.11

n.d.

n.d.

EYA1 (NM_172060)

Significant down-regulated

−1.09

n.d.

n.d.

PIGU (NM_080476)

Significant down-regulated

−1.09

−3.2

Significant

CDC25B (NM_021873)

Significant down-regulated

−1.09

n.d.

n.d.

NKX2-6 (NM_001136271)

Significant down-regulated

−1.07

n.d.

n.d.

HTATIP2 (NM_001098520)

Significant down-regulated

−1.05

n.d.

n.d.

ILK (NM_004517)

Significant down-regulated

−1.05

n.d.

n.d.

ACSF2 (NM_001288968)

Significant down-regulated

−1.04

n.d.

n.d.

PDZD2 (NM_178140)

Significant down-regulated

−1.03

n.d.

n.d.

CENPH (NM_022909)

Significant down-regulated

−1.03

n.d.

n.d.

TOX (NM_014729)

Significant down-regulated

−1.02

n.d.

n.d.

VSTM2L (NM_080607)

Significant down-regulated

−1.01

n.d.

n.d.

SYT17 (NM_016524)

Significant down-regulated

−1.01

n.d.

n.d.

Microarray candidate genes (accession number)

Regulation microarray

log2 fold-change microarray

Fold-change qRT-PCR

Significance of qRT-PCR (fold-change set +2)

TDRD12 (NM_001110822)

Significant up-regulated

3.98

618.1

Significant

NEFH (NM_021076)

Significant up-regulated

3.45

1174.9

Significant

NLRP2 (NM_017852)

Significant up-regulated

3.39

154.3

Significant

TSPYL5 (NM_033512)

Significant up-regulated

3.20

n.d.

n.d.

KLK5 (NM_012427)

Significant up-regulated

3.18

62.8

Significant

ENPP1 (NM_006208)

Significant up-regulated

3.09

6.1

Significant

GJB6 (NM_001110219)

Significant up-regulated

2.98

24.4

Significant

ZFP42 (NM_174900)

Significant up-regulated

2.84

313.7

Significant

RNF212 (NM_001131034)

Significant up-regulated

2.59

n.d.

n.d.

DDX43 (NM_018665)

Significant up-regulated

2.51

n.d.

n.d.

DKK1 (NM_012242)

Significant up-regulated

2.40

45.3

Significant

CYYR1 (NM_052954)

Significant up-regulated

2.36

19.6

Significant

C10orf99 (NM_207373)

Significant up-regulated

2.33

10.6

Significant

SYCP2 (NM_014258)

Significant up-regulated

2.23

10.2

Significant

ZNF136 (NM_003437)

Significant up-regulated

2.17

n.d.

n.d.

CCDC144A (NM_014695)

Significant up-regulated

2.11

n.d.

n.d.

PRICKLE1 (NM_153026)

Significant up-regulated

2.08

52.4

Significant

SLC44A5 (NM_152697)

Significant up-regulated

2.06

100.5

Significant

PLA2G7 (NM_005084)

Significant up-regulated

2.05

18.6

Significant

CCDC144A, CCDC144B, CCDC144C

Significant up-regulated

2.01

n.d.

n.d.

MOXD1 (NM_015529)

Significant up-regulated

1.97

15.9

Significant

ZNF700 (NM_144566)

Significant up-regulated

1.96

n.d.

n.d.

WNT5A (NM_003392)

Significant up-regulated

1.94

6.9

Significant

WISP3 (CCN6) (NM_003880)

Significant up-regulated

1.92

103.8

Significant

ARHGEF9 (NM_015185)

Significant up-regulated

1.88

25.0

Significant

HSD17B11 (NM_016245)

Significant up-regulated

1.87

3.1

Significant

BGN (NM_001711)

Significant up-regulated

1.87

1.8

Non-significant

ADAMTSL3 (NM_207517)

Significant up-regulated

1.84

26.4

Significant

FAM102B (NM_001010883)

Significant up-regulated

1.78

2.5

Significant

SGMS1 (NM_147156)

Significant up-regulated

1.76

2.9

Significant

ARHGAP29 (NM_004815)

Significant up-regulated

1.75

4.1

Significant

H2AFY2 (NM_018649)

Significant up-regulated

1.74

1.8

Non-significant

SLC15A2 (NM_021082)

Significant up-regulated

1.73

4.6

Significant

ROBO1 (NM_002941)

Significant up-regulated

1.73

5.6

Significant

ERCC6, PGBD3 (NM_000124)

Significant up-regulated

1.68

6.0

Significant

NREP (NM_004772)

Significant up-regulated

1.67

3.0

Significant

KIAA1324L (NM_001142749)

Significant up-regulated

1.62

149.8

Significant

SNORD116-21 (NR_003335)

Significant up-regulated

1.62

n.d.

n.d.

HOXA9 (NM_152739)

Significant up-regulated

1.59

1.3

Non-significant

ROR1 (NM_005012)

Significant up-regulated

1.59

9.5

Significant

RPS23 (NM_001025)

Significant up-regulated

1.58

n.d.

n.d.

MAN1A1 (NM_005907)

Significant up-regulated

1.55

1.0

Non-significant

STOX1 (NM_152709)

Significant up-regulated

1.54

−1.1

Non-significant

RPL10, SNORA70 (NM_006013)

Significant up-regulated

1.53

−1.1

Non-significant

CCDC144C

Significant up-regulated

1.52

n.d.

n.d.

ZFAND4 (NM_174890)

Significant up-regulated

1.50

2.5

Significant

NOX5, SPESP1 (NM_024505)

Significant up-regulated

1.50

n.d.

n.d.

EVC2 (NM_147127)

Significant up-regulated

1.46

n.d.

n.d.

SELENBP1 (NM_003944)

Significant up-regulated

1.45

64.8

Significant

ZNF334 (NM_018102)

Significant up-regulated

1.43

15.6

Significant

PTPN20C (NM_001042357)

Significant up-regulated

1.43

n.d.

n.d.

IRX4 (NM_001278632)

Significant up-regulated

1.41

90.4

Significant

PTPN20A (NM_001042357)

Significant up-regulated

1.41

29.5

Significant

PTPN20B (NM_001042357)

Significant up-regulated

1.40

n.d.

n.d.

PNMAL1 (NM_018215)

Significant up-regulated

1.40

2.9

Significant

NID1 (NM_002508)

Significant up-regulated

1.38

1.8

Non-significant

ZNF32 (NM_006973)

Significant up-regulated

1.37

3.5

Significant

ASAH2 (NM_019893)

Significant up-regulated

1.37

n.d.

n.d.

FLJ20444, LOC554249

Significant up-regulated

1.36

n.d.

n.d.

TP53INP1 (NM_033285)

Significant up-regulated

1.35

1.6

Non-significant

SLC16A4 (NM_004696)

Significant up-regulated

1.34

16.4

Significant

FRG1B (NR_003579)

Significant up-regulated

1.32

n.d.

n.d.

AHI1 (NM_001134831)

Significant up-regulated

1.32

3.7

Significant

MSLN (NM_005823)

Significant up-regulated

1.30

n.d.

n.d.

ELAVL2 (NM_004432)

Significant up-regulated

1.29

4.3

Significant

SLC16A9 (NM_194298)

Significant up-regulated

1.28

2.4

Significant

FAM25A, FAM25B, FAM25C, FAM25G (NM_001146157)

Significant up-regulated

1.28

2.5

Significant

MAPK8 (NM_002750)

Significant up-regulated

1.28

2.2

Significant

CDC14B (NM_003671)

Significant up-regulated

1.26

3.0

Significant

GABPB2 (NM_144618)

Significant up-regulated

1.26

2.3

Significant

DENND1B (NM_144977)

Significant up-regulated

1.25

n.d.

n.d.

TCHH (NM_007113)

Significant up-regulated

1.23

28.0

Significant

LMF1 (NM_022773)

Significant up-regulated

1.22

5.1

Significant

CSTF2T (NM_015235)

Significant up-regulated

1.22

2.2

Significant

IFFO2 (NM_001136265)

Significant up-regulated

1.21

n.d.

n.d.

SGK1 (NM_005627)

Significant up-regulated

1.19

4.2

Significant

HOXC10 (NM_017409)

Significant up-regulated

1.19

2.2

Significant

STRBP (NM_018387)

Significant up-regulated

1.18

n.d.

n.d.

UAP1 (NM_003115)

Significant up-regulated

1.18

2.3

Significant

POPDC2 (NM_022135)

Significant up-regulated

1.18

3.9

Significant

DSEL (NM_032160)

Significant up-regulated

1.17

−1.2

Non-significant

AOX1 (NM_001159)

Significant up-regulated

1.16

1.4

Non-significant

ZNF502 (NM_033210)

Significant up-regulated

1.16

500.9

Significant

LRP12 (NM_013437)

Significant up-regulated

1.15

n.d.

n.d.

ADHFE1 (NM_144650)

Significant up-regulated

1.12

1.8

Non-significant

FAM21D

Significant up-regulated

1.11

n.d.

n.d.

SNORD64 (NR_001294)

Significant up-regulated

1.10

n.d.

n.d.

FAM21A, FAM21B, FAM21C

Significant up-regulated

1.09

n.d.

n.d.

EFEMP1 (NM_001039348)

Significant up-regulated

1.09

n.d.

n.d.

KGFLP1, KGFLP2

Significant up-regulated

1.08

n.d.

n.d.

ANKRD2 (NM_020349)

Significant up-regulated

1.07

−1.4

Non-significant

PIK3R3 (NM_003629)

Significant up-regulated

1.07

n.d.

n.d.

HS3ST3B1 (NM_006041)

Significant up-regulated

1.07

1.2

Non-significant

PTPN20A, PTPN20B (NM_001042357)

Significant up-regulated

1.07

n.d.

n.d.

FAM21A, FAM21B, FAM21C

Significant up-regulated

1.07

n.d.

n.d.

APBB2 (NM_004307)

Significant up-regulated

1.06

n.d.

n.d.

DUOX1 (NM_017434)

Significant up-regulated

1.06

n.d.

n.d.

ZNF627 (NM_145295)

Significant up-regulated

1.06

n.d.

n.d.

MCOLN2 (NM_153259)

Significant up-regulated

1.06

n.d.

n.d.

APOB (NM_000384)

Significant up-regulated

1.04

n.d.

n.d.

AJAP1 (NM_018836)

Significant up-regulated

1.04

n.d.

n.d.

BNC2 (NM_017637)

Significant up-regulated

1.03

n.d.

n.d.

LOC100652860, LOC100653093, TTC6

Significant up-regulated

1.03

n.d.

n.d.

FKTN (NM_001079802)

Significant up-regulated

1.03

n.d.

n.d.

TMEM204 (NM_024600)

Significant up-regulated

1.02

n.d.

n.d.

BMS1P1, BMS1P5 (NR_003611)

Significant up-regulated

1.00

n.d.

n.d.

  1. 106 up-regulated and 101 down-regulated genes with significantly altered expression levels (log2-fold-change >+1 and <−1 and adjusted p-value <0.05) in the mutant cell line KEB7 compared to wild-type control NEB1 keratinocytes. qRT-PCR analysis of the most promising 79 up-regulated and 79 down-regulated genes was also carried out (a fold-change >±2 is statistically significant, p < 0.05)