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

24974-100ul 100ul
EUR 390

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
  • Immunogen: RWD domain containing 3
  • Uniprot ID: Q9Y3V2
  • Gene ID: 25950
  • Research Area: Cell Division and Proliferation
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
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RWDD3 siRNA

20-abx932311
  • EUR 551.00
  • EUR 732.00
  • 15 nmol
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anti-RWDD3

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

RWDD3 ELISA KIT|Human

EF002685 96 Tests
EUR 689

Rat RWDD3 shRNA Plasmid

20-abx986360
  • EUR 801.00
  • EUR 1121.00
  • 150 µg
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Human RWDD3 shRNA Plasmid

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  • 150 µg
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RWDD3 Recombinant Protein (Human)

RP043063 100 ug Ask for price

RWDD3 Recombinant Protein (Rat)

RP227306 100 ug Ask for price

RWDD3 Recombinant Protein (Mouse)

RP169724 100 ug Ask for price

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RP169727 100 ug Ask for price

RWD Domain Containing 3 (RWDD3) Antibody

abx237540-100ug 100 ug
EUR 551
  • Shipped within 5-12 working days.

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 ORF Vector (Mouse) (pORF)

ORF056576 1.0 ug DNA
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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
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RWDD3 sgRNA CRISPR Lentivector set (Human)

K2079901 3 x 1.0 ug
EUR 339

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
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Rwdd3 sgRNA CRISPR Lentivector (Rat) (Target 3)

K6969204 1.0 ug DNA
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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
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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 Protein Vector (Rat) (pPB-C-His)

PV303078 500 ng
EUR 603

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

PV303079 500 ng
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RWDD3 Protein Vector (Rat) (pPM-C-HA)

PV303080 500 ng
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RWDD3 Protein Vector (Rat) (pPM-C-His)

PV303081 500 ng
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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 (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
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Rwdd3 3'UTR Luciferase Stable Cell Line

TU118271 1.0 ml Ask for price

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Rwdd3 3'UTR GFP Stable Cell Line

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RWDD3 3'UTR GFP Stable Cell Line

TU072495 1.0 ml
EUR 1394

RWDD3 3'UTR Luciferase Stable Cell Line

TU022495 1.0 ml
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Human RWD Domain Containing 3 (RWDD3) ELISA Kit

abx383001-96tests 96 tests
EUR 911
  • Shipped within 5-12 working days.

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

LV696726 1.0 ug DNA
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Human RWD domain- containing protein 3, RWDD3 ELISA KIT

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Bovine RWD domain- containing protein 3, RWDD3 ELISA KIT

ELI-29418b 96 Tests
EUR 928

Mouse RWD domain- containing protein 3, Rwdd3 ELISA KIT

ELI-53354m 96 Tests
EUR 865

GAPDH Rabbit Polyclonal Antibody

37985-100ul 100ul
EUR 252

GAPDH Rabbit Polyclonal Antibody

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EUR 187

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mOrange Rabbit Polyclonal Antibody

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mStrawberry Rabbit Polyclonal Antibody

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AmCyan Rabbit Polyclonal Antibody

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Vimentin Rabbit Polyclonal Antibody

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LDHD Rabbit Polyclonal Antibody

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LDHD Rabbit Polyclonal Antibody

38105-50ul 50ul
EUR 187

GAPDH Rabbit Polyclonal Antibody

A01021-005ml 0.05ml
EUR 147
  • Immunogen information: Recombinant Protein
  • Applications tips: Suggested starting dilutions are as follows: WB (1:5000), IHC-P (1:200). Please, note that that to ensure best results sometimes the optimal dilutions for the applications need to be adju
  • Show more
Description: A polyclonal antibody for detection of GAPDH from Human, Mouse, Rat, Rabbit, Chicken, Monkey, Sheep, Xneous. This GAPDH antibody is for WB, IHC-P. It is affinity-purified from rabbit antiserum by affinity-chromatography using the specific immunogenand is unconjugated. The antibody is produced in rabbit by using as an immunogen recombinant protein

GAPDH Rabbit Polyclonal Antibody

A01021-02ml 0.2ml
EUR 332
  • Immunogen information: Recombinant Protein
  • Applications tips: Suggested starting dilutions are as follows: WB (1:5000), IHC-P (1:200). Please, note that that to ensure best results sometimes the optimal dilutions for the applications need to be adju
  • Show more
Description: A polyclonal antibody for detection of GAPDH from Human, Mouse, Rat, Rabbit, Chicken, Monkey, Sheep, Xneous. This GAPDH antibody is for WB, IHC-P. It is affinity-purified from rabbit antiserum by affinity-chromatography using the specific immunogenand is unconjugated. The antibody is produced in rabbit by using as an immunogen recombinant protein

GAPDH Rabbit Polyclonal Antibody

A01021-02ml5 0.2ml×5
EUR 920
  • Immunogen information: Recombinant Protein
  • Applications tips: Suggested starting dilutions are as follows: WB (1:5000), IHC-P (1:200). Please, note that that to ensure best results sometimes the optimal dilutions for the applications need to be adju
  • Show more
Description: A polyclonal antibody for detection of GAPDH from Human, Mouse, Rat, Rabbit, Chicken, Monkey, Sheep, Xneous. This GAPDH antibody is for WB, IHC-P. It is affinity-purified from rabbit antiserum by affinity-chromatography using the specific immunogenand is unconjugated. The antibody is produced in rabbit by using as an immunogen recombinant protein

Rabbit Hemoglobin Polyclonal Antibody

A53073 100 µg
EUR 570.55
Description: The best epigenetics products

Met Rabbit Polyclonal Antibody

ABP57458-003ml 0.03ml
EUR 158
  • Immunogen information: Recombinant Protein of Met of MET
  • Applications tips:
Description: A polyclonal antibody for detection of Met from Human, Mouse, Rat. This Met antibody is for IHC-P. It is affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogenand is unconjugated. The antibody is produced in rabbit by using as an immunogen recombinant protein of Met of MET

Met Rabbit Polyclonal Antibody

ABP57458-01ml 0.1ml
EUR 289
  • Immunogen information: Recombinant Protein of Met of MET
  • Applications tips:
Description: A polyclonal antibody for detection of Met from Human, Mouse, Rat. This Met antibody is for IHC-P. It is affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogenand is unconjugated. The antibody is produced in rabbit by using as an immunogen recombinant protein of Met of MET

Met Rabbit Polyclonal Antibody

ABP57458-02ml 0.2ml
EUR 414
  • Immunogen information: Recombinant Protein of Met of MET
  • Applications tips:
Description: A polyclonal antibody for detection of Met from Human, Mouse, Rat. This Met antibody is for IHC-P. It is affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogenand is unconjugated. The antibody is produced in rabbit by using as an immunogen recombinant protein of Met of MET

VEGF Rabbit Polyclonal Antibody

ABP57460-003ml 0.03ml
EUR 158
  • Immunogen information: Recombinant Protein of VEGF of VEGFA
  • Applications tips:
Description: A polyclonal antibody for detection of VEGF from Human, Mouse, Rat. This VEGF antibody is for IHC-P. It is affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogenand is unconjugated. The antibody is produced in rabbit by using as an immunogen recombinant protein of VEGF of VEGFA

VEGF Rabbit Polyclonal Antibody

ABP57460-01ml 0.1ml
EUR 289
  • Immunogen information: Recombinant Protein of VEGF of VEGFA
  • Applications tips:
Description: A polyclonal antibody for detection of VEGF from Human, Mouse, Rat. This VEGF antibody is for IHC-P. It is affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogenand is unconjugated. The antibody is produced in rabbit by using as an immunogen recombinant protein of VEGF of VEGFA

VEGF Rabbit Polyclonal Antibody

ABP57460-02ml 0.2ml
EUR 414
  • Immunogen information: Recombinant Protein of VEGF of VEGFA
  • Applications tips:
Description: A polyclonal antibody for detection of VEGF from Human, Mouse, Rat. This VEGF antibody is for IHC-P. It is affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogenand is unconjugated. The antibody is produced in rabbit by using as an immunogen recombinant protein of VEGF of VEGFA

CD10 Rabbit Polyclonal Antibody

ABP57461-003ml 0.03ml
EUR 158
  • Immunogen information: Recombinant Protein of CD10 of MME
  • Applications tips:
Description: A polyclonal antibody for detection of CD10 from Human, Mouse, Rat. This CD10 antibody is for IHC-P. It is affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogenand is unconjugated. The antibody is produced in rabbit by using as an immunogen recombinant protein of CD10 of MME

CD10 Rabbit Polyclonal Antibody

ABP57461-01ml 0.1ml
EUR 289
  • Immunogen information: Recombinant Protein of CD10 of MME
  • Applications tips:
Description: A polyclonal antibody for detection of CD10 from Human, Mouse, Rat. This CD10 antibody is for IHC-P. It is affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogenand is unconjugated. The antibody is produced in rabbit by using as an immunogen recombinant protein of CD10 of MME

CD10 Rabbit Polyclonal Antibody

ABP57461-02ml 0.2ml
EUR 414
  • Immunogen information: Recombinant Protein of CD10 of MME
  • Applications tips:
Description: A polyclonal antibody for detection of CD10 from Human, Mouse, Rat. This CD10 antibody is for IHC-P. It is affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogenand is unconjugated. The antibody is produced in rabbit by using as an immunogen recombinant protein of CD10 of MME

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.