Gene expression profiling of fibroblasts in a family with LMNA-related cardiomyopathy reveals molecular pathways implicated in disease pathogenesis

Background: Intermediate filament proteins that construct the nuclear lamina protein lamin cell including A / C is encoded by the gene LMNA, and is involved in fundamental processes such as nuclear structure, gene expression and signal transduction. LMNA mutations predominantly affect the mesoderm-derived cell lineages in diseases collectively referred to as laminopathies which include dilated cardiomyopathy with conduction defects, various forms of muscular dystrophy and premature aging syndromes as Hutchinson-Gilford Progeria Syndrome. At present, our understanding of the molecular mechanisms that regulate tissue-specific manifestations of laminopathies still limited.


Methods: To gain more insight into the molecular mechanisms of a novel splice-site mutations in LMNA (c.357-2A> G) in a family affected by heart disease, we do deep RNA sequencing and analysis for the nine lines derived fibroblast samples three patients with cardiomyopathy, three unaffected family members, and three unrelated individuals not affected. We validated our findings by the study of quantitative PCR and protein.


Results: We identified eight genes were significantly differentially expressed between fibroblasts mutant and non-mutant, which included downregulated factor insulin growth factor binding protein 5 (IGFBP5) in patient samples. ERK pathway analysis indicates involvement / MAPK signaling pathways consistent with previous studies. We found no significant differences in gene expression of lamin A / C and B-type lamins between groups. In the mutant fibroblasts, RNA-seq confirmed that only LMNA predominantly expressed wild-type allele, and Western blot showed normal levels of the protein lamin A / C


Conclusion: IGFBP5 can contribute in maintaining homeostasis pathway signaling, which may cause the molecular and structural abnormalities is important in the network are not affected as fibroblasts. the mechanism of compensation of other nuclear membrane protein was not found. Our results also showed that only one copy of the wild allele kind enough to normal levels of the protein lamin A / C to maintain physiological functions in the cell type affected.

This indicates that the affected cell types such as heart tissue may be more sensitive to haploinsufficiency of lamin A / C. These results provide insight into the molecular mechanisms of diseases with a possible explanation for tissue specificity LMNA related dilated cardiomyopathy.

Gene expression profiling of fibroblasts in a family with LMNA-related cardiomyopathy reveals molecular pathways implicated in disease pathogenesis
Gene expression profiling of fibroblasts in a family with LMNA-related cardiomyopathy reveals molecular pathways implicated in disease pathogenesis

Genome-wide identification and expression-based transcriptome profiles of Wnt gene family in Ruditapes philippinarum

Wnt genes encode a set of conserved glycoprotein regulate early development, proliferation and differentiation of cells and tissue regeneration in metazoans. In some mollusks, knowledge of the Wnt gene family has been limited because of scarce resources genomic and transcriptomic. Ruditapes philippinarum is economically important shellfish with a variety of shell color patterns and the ability to regenerate its siphon.

To gain a greater understanding of the dynamics of the Wnt gene family evolution, we performed genome-wide identification and phylogenetic analysis of the Wnt gene family in R. philippinarum and four other mollusks. A total of 12 Wnt genes identified in the genome of R. philippinarum and dynamic patterns of gene conservation, loss and duplication of Wnt genes analyzed in mollusks and model organisms.

RWDD3 Antibody

5409-002mg 0.02 mg
EUR 171.82
Description: RWDD3 Antibody: RWDD3 (RSUME), a small RWD-containing protein, has a central role in sumoylation by enhancing SUMO conjugation in the regulatory network of immune-inflammatory signals. RWDD3 increases IκBeta sumoylation and stability. In addition, RWDD3 inhibits TNF-α-induced kappaB-LUC (Luciferase) reporter activity, showing the functional consequence of IκBeta increased stability. RSUME-enhanced sumoylation of IκBeta leads to the inhibition of NF-κBeta activity on two well-known inflammatory genes, IL-8 and cyclooxygenase-2 (Cox-2) and therefore may also favor anti-inflammatory pathways. Expression of RWDD3 was induced under hypoxic conditions and it has a potential role during vascularization. Both BMP-4 and RWDD3 may be interesting targets for inhibiting steps involved in pituitary tumorigenesis.

RWDD3 Antibody

5409-01mg 0.1 mg
EUR 436.42
Description: RWDD3 Antibody: RWDD3 (RSUME), a small RWD-containing protein, has a central role in sumoylation by enhancing SUMO conjugation in the regulatory network of immune-inflammatory signals. RWDD3 increases IκBeta sumoylation and stability. In addition, RWDD3 inhibits TNF-α-induced kappaB-LUC (Luciferase) reporter activity, showing the functional consequence of IκBeta increased stability. RSUME-enhanced sumoylation of IκBeta leads to the inhibition of NF-κBeta activity on two well-known inflammatory genes, IL-8 and cyclooxygenase-2 (Cox-2) and therefore may also favor anti-inflammatory pathways. Expression of RWDD3 was induced under hypoxic conditions and it has a potential role during vascularization. Both BMP-4 and RWDD3 may be interesting targets for inhibiting steps involved in pituitary tumorigenesis.

Polyclonal RWDD3 Antibody (C-Terminus)

APR02713G 0.05mg
EUR 484
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human RWDD3 (C-Terminus). This antibody is tested and proven to work in the following applications:

Polyclonal RWDD3 Antibody (N-Terminus)

APR02714G 0.05mg
EUR 484
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human RWDD3 (N-Terminus). This antibody is tested and proven to work in the following applications:

Rwdd3/ Rat Rwdd3 ELISA Kit

ELI-18417r 96 Tests
EUR 886

anti- RWDD3 antibody

FNab07540 100µg
EUR 585
Description: Antibody raised against RWDD3

Anti-RWDD3 antibody

PAab07540 100 ug
EUR 412

RWDD3 siRNA

20-abx932310
  • EUR 551.00
  • EUR 732.00
  • 15 nmol
  • 30 nmol

RWDD3 siRNA

20-abx932311
  • EUR 551.00
  • EUR 732.00
  • 15 nmol
  • 30 nmol

anti-RWDD3

YF-PA18151 50 ul
EUR 363
Description: Mouse polyclonal to RWDD3

RWDD3 Peptide

5407P 0.05 mg
EUR 164.75
Description: (CT) RWDD3 peptide

RWDD3 Peptide

5409P 0.05 mg
EUR 164.75
Description: (NT) RWDD3 peptide

Rat RWDD3 shRNA Plasmid

20-abx986360
  • EUR 801.00
  • EUR 1121.00
  • 150 µg
  • 300 µg

Human RWDD3 shRNA Plasmid

20-abx958612
  • EUR 801.00
  • EUR 1121.00
  • 150 µg
  • 300 µg

RWDD3 ELISA KIT|Human

EF002685 96 Tests
EUR 689

RWDD3 Recombinant Protein (Mouse)

RP169724 100 ug Ask for price

RWDD3 Recombinant Protein (Mouse)

RP169727 100 ug Ask for price

RWDD3 Recombinant Protein (Rat)

RP227306 100 ug Ask for price

RWDD3 Recombinant Protein (Human)

RP043063 100 ug Ask for price

RWD Domain Containing 3 (RWDD3) Antibody

abx237540-100ug 100 ug
EUR 551

Rwdd3 ORF Vector (Mouse) (pORF)

ORF056576 1.0 ug DNA
EUR 506

Rwdd3 ORF Vector (Mouse) (pORF)

ORF056577 1.0 ug DNA
EUR 506

Rwdd3 ORF Vector (Rat) (pORF)

ORF075770 1.0 ug DNA
EUR 506

RWDD3 ORF Vector (Human) (pORF)

ORF014355 1.0 ug DNA
EUR 354

RWDD3 sgRNA CRISPR Lentivector set (Human)

K2079901 3 x 1.0 ug
EUR 339

Rwdd3 sgRNA CRISPR Lentivector set (Rat)

K6969201 3 x 1.0 ug
EUR 339

Rwdd3 sgRNA CRISPR Lentivector set (Mouse)

K4077201 3 x 1.0 ug
EUR 339

RWDD3 sgRNA CRISPR Lentivector (Human) (Target 1)

K2079902 1.0 ug DNA
EUR 154

RWDD3 sgRNA CRISPR Lentivector (Human) (Target 2)

K2079903 1.0 ug DNA
EUR 154

RWDD3 sgRNA CRISPR Lentivector (Human) (Target 3)

K2079904 1.0 ug DNA
EUR 154

Rwdd3 sgRNA CRISPR Lentivector (Rat) (Target 1)

K6969202 1.0 ug DNA
EUR 154

Rwdd3 sgRNA CRISPR Lentivector (Rat) (Target 2)

K6969203 1.0 ug DNA
EUR 154

Rwdd3 sgRNA CRISPR Lentivector (Rat) (Target 3)

K6969204 1.0 ug DNA
EUR 154

Rwdd3 sgRNA CRISPR Lentivector (Mouse) (Target 1)

K4077202 1.0 ug DNA
EUR 154

Rwdd3 sgRNA CRISPR Lentivector (Mouse) (Target 2)

K4077203 1.0 ug DNA
EUR 154

Rwdd3 sgRNA CRISPR Lentivector (Mouse) (Target 3)

K4077204 1.0 ug DNA
EUR 154

Rwdd3 3'UTR Luciferase Stable Cell Line

TU219855 1.0 ml Ask for price

Rwdd3 3'UTR GFP Stable Cell Line

TU269855 1.0 ml Ask for price

Rwdd3 3'UTR GFP Stable Cell Line

TU168271 1.0 ml Ask for price

Rwdd3 3'UTR Luciferase Stable Cell Line

TU118271 1.0 ml Ask for price

RWDD3 3'UTR Luciferase Stable Cell Line

TU022495 1.0 ml
EUR 1394

RWDD3 3'UTR GFP Stable Cell Line

TU072495 1.0 ml
EUR 1394

RWDD3 Protein Vector (Mouse) (pPB-C-His)

PV226302 500 ng
EUR 603

RWDD3 Protein Vector (Mouse) (pPB-N-His)

PV226303 500 ng
EUR 603

RWDD3 Protein Vector (Mouse) (pPM-C-HA)

PV226304 500 ng
EUR 603

RWDD3 Protein Vector (Mouse) (pPM-C-His)

PV226305 500 ng
EUR 603

RWDD3 Protein Vector (Mouse) (pPB-C-His)

PV226306 500 ng
EUR 603

RWDD3 Protein Vector (Mouse) (pPB-N-His)

PV226307 500 ng
EUR 603

RWDD3 Protein Vector (Mouse) (pPM-C-HA)

PV226308 500 ng
EUR 603

RWDD3 Protein Vector (Mouse) (pPM-C-His)

PV226309 500 ng
EUR 603

RWDD3 Protein Vector (Human) (pPB-C-His)

PV057417 500 ng
EUR 481

RWDD3 Protein Vector (Human) (pPB-N-His)

PV057418 500 ng
EUR 481

RWDD3 Protein Vector (Human) (pPM-C-HA)

PV057419 500 ng
EUR 481

RWDD3 Protein Vector (Human) (pPM-C-His)

PV057420 500 ng
EUR 481

RWDD3 Protein Vector (Rat) (pPB-C-His)

PV303078 500 ng
EUR 603

RWDD3 Protein Vector (Rat) (pPB-N-His)

PV303079 500 ng
EUR 603

RWDD3 Protein Vector (Rat) (pPM-C-HA)

PV303080 500 ng
EUR 603

RWDD3 Protein Vector (Rat) (pPM-C-His)

PV303081 500 ng
EUR 603

Human RWD Domain Containing 3 (RWDD3) ELISA Kit

abx383001-96tests 96 tests
EUR 911

RWDD3 Lentiviral Vector (Rat) (CMV) (pLenti-GIII-CMV)

LV696721 1.0 ug DNA
EUR 514

RWDD3 Lentiviral Vector (Rat) (UbC) (pLenti-GIII-UbC)

LV696725 1.0 ug DNA
EUR 514

RWDD3 Lentiviral Vector (Rat) (EF1a) (pLenti-GIII-EF1a)

LV696726 1.0 ug DNA
EUR 514

VEGF Rabbit Polyclonal Antibody

ES8453-100ul 100ul
EUR 279
Description: A Rabbit Polyclonal antibody against VEGF Rabbit from Human/Mouse/Rat. This antibody is tested and validated for IHC

VEGF Rabbit Polyclonal Antibody

ES8453-50ul 50ul
EUR 207
Description: A Rabbit Polyclonal antibody against VEGF Rabbit from Human/Mouse/Rat. This antibody is tested and validated for IHC

CD10 Rabbit Polyclonal Antibody

ES8454-100ul 100ul
EUR 279
Description: A Rabbit Polyclonal antibody against CD10 Rabbit from Human/Mouse/Rat. This antibody is tested and validated for IHC

CD10 Rabbit Polyclonal Antibody

ES8454-50ul 50ul
EUR 207
Description: A Rabbit Polyclonal antibody against CD10 Rabbit from Human/Mouse/Rat. This antibody is tested and validated for IHC

NM23A Rabbit Polyclonal Antibody

ES8455-100ul 100ul
EUR 279
Description: A Rabbit Polyclonal antibody against NM23A Rabbit from Human/Mouse/Rat. This antibody is tested and validated for IHC

NM23A Rabbit Polyclonal Antibody

ES8455-50ul 50ul
EUR 207
Description: A Rabbit Polyclonal antibody against NM23A Rabbit from Human/Mouse/Rat. This antibody is tested and validated for IHC

ATM Rabbit Polyclonal Antibody

ES8456-100ul 100ul
EUR 279
Description: A Rabbit Polyclonal antibody against ATM Rabbit from Human/Mouse/Rat. This antibody is tested and validated for IHC

ATM Rabbit Polyclonal Antibody

ES8456-50ul 50ul
EUR 207
Description: A Rabbit Polyclonal antibody against ATM Rabbit from Human/Mouse/Rat. This antibody is tested and validated for IHC

ATM Rabbit Polyclonal Antibody

ES8457-100ul 100ul
EUR 279
Description: A Rabbit Polyclonal antibody against ATM Rabbit from Human/Mouse/Rat. This antibody is tested and validated for IHC

ATM Rabbit Polyclonal Antibody

ES8457-50ul 50ul
EUR 207
Description: A Rabbit Polyclonal antibody against ATM Rabbit from Human/Mouse/Rat. This antibody is tested and validated for IHC

HSC70 Rabbit Polyclonal Antibody

ES8558-100ul 100ul
EUR 279
Description: A Rabbit Polyclonal antibody against HSC70 Rabbit from Human/Mouse/Rat. This antibody is tested and validated for WB, ELISA, IHC

HSC70 Rabbit Polyclonal Antibody

ES8558-50ul 50ul
EUR 207
Description: A Rabbit Polyclonal antibody against HSC70 Rabbit from Human/Mouse/Rat. This antibody is tested and validated for WB, ELISA, IHC

HSP40 Rabbit Polyclonal Antibody

ES8559-100ul 100ul
EUR 279
Description: A Rabbit Polyclonal antibody against HSP40 Rabbit from Human/Mouse/Rat. This antibody is tested and validated for WB, ELISA, IHC

HSP40 Rabbit Polyclonal Antibody

ES8559-50ul 50ul
EUR 207
Description: A Rabbit Polyclonal antibody against HSP40 Rabbit from Human/Mouse/Rat. This antibody is tested and validated for WB, ELISA, IHC

HSP90? Rabbit Polyclonal Antibody

ES8560-100ul 100ul
EUR 279
Description: A Rabbit Polyclonal antibody against HSP90? Rabbit from Human/Mouse/Rat. This antibody is tested and validated for IHC

HSP90? Rabbit Polyclonal Antibody

ES8560-50ul 50ul
EUR 207
Description: A Rabbit Polyclonal antibody against HSP90? Rabbit from Human/Mouse/Rat. This antibody is tested and validated for IHC

IkB ? Rabbit Polyclonal Antibody

ES8561-100ul 100ul
EUR 279
Description: A Rabbit Polyclonal antibody against IkB ? Rabbit from Human/Mouse/Rat. This antibody is tested and validated for WB, ELISA, IHC

IkB ? Rabbit Polyclonal Antibody

ES8561-50ul 50ul
EUR 207
Description: A Rabbit Polyclonal antibody against IkB ? Rabbit from Human/Mouse/Rat. This antibody is tested and validated for WB, ELISA, IHC

JAK1 Rabbit Polyclonal Antibody

ES8562-100ul 100ul
EUR 279
Description: A Rabbit Polyclonal antibody against JAK1 Rabbit from Human/Mouse/Rat. This antibody is tested and validated for IHC

JAK1 Rabbit Polyclonal Antibody

ES8562-50ul 50ul
EUR 207
Description: A Rabbit Polyclonal antibody against JAK1 Rabbit from Human/Mouse/Rat. This antibody is tested and validated for IHC

JAK2 Rabbit Polyclonal Antibody

ES8563-100ul 100ul
EUR 279
Description: A Rabbit Polyclonal antibody against JAK2 Rabbit from Human/Mouse/Rat. This antibody is tested and validated for IHC

JAK2 Rabbit Polyclonal Antibody

ES8563-50ul 50ul
EUR 207
Description: A Rabbit Polyclonal antibody against JAK2 Rabbit from Human/Mouse/Rat. This antibody is tested and validated for IHC

JNK2 Rabbit Polyclonal Antibody

ES8564-100ul 100ul
EUR 279
Description: A Rabbit Polyclonal antibody against JNK2 Rabbit from Human/Mouse/Rat. This antibody is tested and validated for WB, ELISA, IHC

JNK2 Rabbit Polyclonal Antibody

ES8564-50ul 50ul
EUR 207
Description: A Rabbit Polyclonal antibody against JNK2 Rabbit from Human/Mouse/Rat. This antibody is tested and validated for WB, ELISA, IHC

JNK3 Rabbit Polyclonal Antibody

ES8565-100ul 100ul
EUR 279
Description: A Rabbit Polyclonal antibody against JNK3 Rabbit from Human/Mouse/Rat. This antibody is tested and validated for IHC

JNK3 Rabbit Polyclonal Antibody

ES8565-50ul 50ul
EUR 207
Description: A Rabbit Polyclonal antibody against JNK3 Rabbit from Human/Mouse/Rat. This antibody is tested and validated for IHC

MEK2 Rabbit Polyclonal Antibody

ES8566-100ul 100ul
EUR 279
Description: A Rabbit Polyclonal antibody against MEK2 Rabbit from Human. This antibody is tested and validated for WB, ELISA, IHC

MEK2 Rabbit Polyclonal Antibody

ES8566-50ul 50ul
EUR 207
Description: A Rabbit Polyclonal antibody against MEK2 Rabbit from Human. This antibody is tested and validated for WB, ELISA, IHC

MEK3 Rabbit Polyclonal Antibody

ES8567-100ul 100ul
EUR 279
Description: A Rabbit Polyclonal antibody against MEK3 Rabbit from Human/Mouse/Rat. This antibody is tested and validated for IHC

MEK3 Rabbit Polyclonal Antibody

ES8567-50ul 50ul
EUR 207
Description: A Rabbit Polyclonal antibody against MEK3 Rabbit from Human/Mouse/Rat. This antibody is tested and validated for IHC

Nrf2 Rabbit Polyclonal Antibody

ES8568-100ul 100ul
EUR 279
Description: A Rabbit Polyclonal antibody against Nrf2 Rabbit from Human/Mouse/Rat. This antibody is tested and validated for IHC

Nrf2 Rabbit Polyclonal Antibody

ES8568-50ul 50ul
EUR 207
Description: A Rabbit Polyclonal antibody against Nrf2 Rabbit from Human/Mouse/Rat. This antibody is tested and validated for IHC

Furthermore, transcriptome analysis showed that Wnt gene expression profiles at different stages of development, in adult tissues during regeneration siphon, in four different colors shell strain, and at this stage of development of colorless and colored in two different strains of shell color.