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. 2019 Feb 4;14(2):e0211647. doi: 10.1371/journal.pone.0211647

Table 1. Selection of DEGs identified in cEDS patients’ skin fibroblasts.

Down-regulated genes
Gene symbol Gene description FDR <0.05 Fold change
EDIL3 EGF-like repeats and discoidin I-like domains 3 0,005 -3,83
RNU5B-1 RNA, U5B small nuclear 1 0,002 -3,61
SNORD80 small nucleolar RNA, C/D box 80 5,80E-05 -3,13
C11orf87 chromosome 11 open reading frame 87 0,001 -2,94
TRIB3 Tribbles pseudokinase 3 9,08E-05 -2,52
SNORD116-6 Small nucleolar RNA, C/D box 116–6 0,002 -2,69
GDF15 Growth differentiation factor 15 0,0003 -2,43
WDR74 WD repeat domain 74 0,00007 -2,53
WNT5A Wingless-type MMTV integration site family, member 5A 0,004 -2,29
HEY1 Hes-related family bHLH transcription factor with YRPW motif 1 0,0006 -2,14
CCPG1 Cell cycle progression 1 0,0001 -1,95
TBC1D19 TBC1 domain family, member 19 2,34E-06 -2,01
HAND2 Heart and neural crest derivatives expressed 2 0,0008 -2,13
CSRP2 Cysteine and glycine-rich protein 2 9,00E-05 -1,95
KRT6B Keratin 6B, type II 2,52E-05 -1,95
PAPPA Pregnancy-associated plasma protein A, pappalysin 1 0,001 -1,74
ATG10 Autophagy related 10 4,42E-07 -1,64
POSTN Periostin, osteoblast specific factor 0,002 -1,60
SVIP Small VCP/p97-interacting protein 9,51E-05 -1,57
RAB33A RAB33A, member RAS oncogene family 0,001 -1,55
VPS29 VPS29 retromer complex component 0,0004 -1,54
SPP1 Secreted phosphoprotein 1 0,008 -1,52
VIPAS39 VPS33B interacting protein 3,35E-06 -1,50
Up-regulated genes
IGFBP2 Insulin like growth factor binding protein 2 0,0001 3,46
GRPR Gastrin-releasing peptide receptor 0,005 3,39
C3 Complement component 3 0,002 3,10
CDC6 Cell division cycle 6 0,0004 2,70
DTL Denticleless E3 ubiquitin protein ligase homolog (Drosophila) 0,0004 2,67
PODXL PODXL podocalyxin-like 0,003 2,63
BRIP1 BRCA1 interacting protein C-terminal helicase 1 5,16E-05 2,55
ADAMTSL1 ADAMTS like 1 0,0002 2,50
CCNE2 Cyclin E2 0,0004 2,48
ND6 NADH dehydrogenase, subunit 6 (complex I) 0,0002 2,44
ZNF730 Zinc finger protein 730 0,001 2,42
PEG10 Paternally expressed 10 0,0007 2,41
GABBR2 Gamma-aminobutyric acid (GABA) B receptor, 2 0,0003 2,38
FAM111B Family with sequence similarity 111, member B 0,0007 2,36
ESCO2 Establishment of sister chromatid cohesion N-acetyltransferase 0,0008 2,27
HIST1H2BM Histone cluster 1, H2bm 6,05E-05 2,26
DCLK1 Doublecortin-like kinase 1 0,003 2,25
RGS4 Regulator of G-protein signaling 4 0,007 2,25
CCBE1 Collagen and calcium binding EGF domains 1 0,002 2,23
RASD2 RASD family, member 2 0,001 2,20
HSD17B6 Hydroxysteroid (17-beta) dehydrogenase 6 0,003 2,20
FAM106A Family with sequence similarity 106, member A 0,008 2,18
EPHA5 EPH receptor A5 0,002 2,15
PTPN3 Protein tyrosine phosphatase, non-receptor type 3 0,005 2,15
MKI67 Marker of proliferation Ki-67 0,0009 2,10