The Value of NOTCH2NLC Gene Detection and Skin Biopsy in the Diagnosis of Neuronal Intranuclear Inclusion Disease

stjosephs-hospital

The clinical manifestations of neuronal intranuclear inclusion disease (NIID) are heterogeneous, and the premortem diagnosis is mainly based on skin biopsy findings. Abnormal GGC repeat expansions in NOTCH2NLC was recently identified in familial and sporadic NIID. The comparison of diagnostic value between abnormal GGC repeat expansions of NOTCH2NLC and skin biopsy has not been conducted yet.

In this study, skin biopsy was performed in 10 suspected adult NIID patients with clinical and imaging manifestations, and GGC repeat size in NOTCH2NLC was also screened by repeat primed-PCR and GC-rich PCR. We found that five cases had ubiquitin-immunolabelling intranuclear inclusion bodies by skin biopsy, and all of them were identified with abnormal GGC repeat expansions in NOTCH2NLC, among whom four patients showed typical linear hyperintensity at corticomedullary junction on DWI.

Five (5/10) NIID patients were diagnosed by combination of NOTCH2NLC gene detection, skin biopsy or combination of NOTCH2NLC, and typical MRI findings. The diagnostic performance of NOTCH2NLC gene detection was highly consistent with that of skin biopsy (Kappa = 1). The unexplained headache was firstly reported as a new early phenotype of NIID. These findings indicate that NOTCH2NLC gene detection is needed to be a supplement in the diagnose flow of NIID and also may be used as an alternative method to skin biopsy especially in Asian population.

 

digIS: towards detecting distant and putative novel insertion sequence elements in prokaryotic genomes

Background: The insertion sequence elements (IS elements) represent the smallest and the most abundant mobile elements in prokaryotic genomes. It has been shown that they play a significant role in genome organization and evolution. To better understand their function in the host genome, it is desirable to have an effective detection and annotation tool.

This need becomes even more crucial when considering rapid-growing genomic and metagenomic data. The existing tools for IS elements detection and annotation are usually based on comparing sequence similarity with a database of known IS families. Thus, they have limited ability to discover distant and putative novel IS elements.

Results: In this paper, we present digIS, a software tool based on profile hidden Markov models assembled from catalytic domains of transposases. It shows a very good performance in detecting known IS elements when tested on datasets with manually curated annotation. The main contribution of digIS is in its ability to detect distant and putative novel IS elements while maintaining a moderate level of false positives. In this category it outperforms existing tools, especially when tested on large datasets of archaeal and bacterial genomes.

Conclusion: We provide digIS, a software tool using a novel approach based on manually curated profile hidden Markov models, which is able to detect distant and putative novel IS elements. Although digIS can find known IS elements as well, we expect it to be used primarily by scientists interested in finding novel IS elements.

 

Gene Expression Changes in a Model Neuron Cell Line Exposed to Autoantibodies from Patients with Traumatic Brain Injury and/or Type 2 Diabetes

Traumatic brain injury and adult type 2 diabetes mellitus are each associated with the late occurrence of accelerated cognitive decline and Parkinson’s disease through unknown mechanisms. Previously, we reported increased circulating agonist autoantibodies targeting the 5-hydroxytryptamine 2A receptor in plasma from subsets of Parkinson’s disease, dementia, and diabetic patients suffering with microvascular complications.

Here, we use a model neuron, mouse neuroblastoma (N2A) cell line, to test messenger RNA expression changes following brief exposure to traumatic brain injury and/or type 2 diabetes mellitus plasma harboring agonist 5-hydroxytryptamine 2A receptor autoantibodies.

We now report involvement of the mitochondrial dysfunction pathway and Parkinson’s disease pathways in autoantibody-induced gene expression changes occurring in neuroblastoma cells. Functional gene categories upregulated significantly included cell death, cytoskeleton-microtubule function, actin polymerization or depolymerization, regulation of cell oxidative stress, mitochondrial function, immune function, protein metabolism, and vesicle function.

Gene categories significantly downregulated included microtubule function, cell adhesion, neurotransmitter release, dopamine metabolism synaptic plasticity, maintenance of neuronal differentiation, mitochondrial function, and cell signaling.

Taken together, these results suggest that agonist 5-hydroxytryptamine receptor autoantibodies (which increase in Parkinson’s disease and other forms of neurodegeneration) mediate a coordinating program of gene expression changes in a model neuron which predispose to neuro-apoptosis and are linked to human neurodegenerative diseases pathways.

stjosephs-hospital

stjosephs-hospital

Novel Alzheimer’s disease risk variants identified based on whole-genome sequencing of APOE ε4 carriers

Alzheimer’s disease (AD) is a progressive neurodegenerative disease associated with a complex genetic etiology. Besides the apolipoprotein E ε4 (APOE ε4) allele, a few dozen other genetic loci associated with AD have been identified through genome-wide association studies (GWAS) conducted mainly in individuals of European ancestry.

Recently, several GWAS performed in other ethnic groups have shown the importance of replicating studies that identify previously established risk loci and searching for novel risk loci. APOE-stratified GWAS have yielded novel AD risk loci that might be masked by, or be dependent on, APOE alleles.

We performed whole-genome sequencing (WGS) on DNA from blood samples of 331 AD patients and 169 elderly controls of Korean ethnicity who were APOE ε4 carriers. Based on WGS data, we designed a customized AD chip (cAD chip) for further analysis on an independent set of 543 AD patients and 894 elderly controls of the same ethnicity, regardless of their APOE ε4 allele status.

Combined analysis of WGS and cAD chip data revealed that SNPs rs1890078 (P = 6.64E-07) and rs12594991 (P = 2.03E-07) in SORCS1 and CHD2 genes, respectively, are novel genetic variants among APOE ε4 carriers in the Korean population.

In addition, nine possible novel variants that were rare in individuals of European ancestry but common in East Asia were identified. This study demonstrates that APOE-stratified analysis is important for understanding the genetic background of AD in different populations.

 

Anti-ECT2 antibody

STJ70379 100 µg
EUR 359

ECT2 Conjugated Antibody

C43917 100ul
EUR 397

Mouse Protein ECT2, Ect2 ELISA KIT

ELI-32217m 96 Tests
EUR 865

Human Protein ECT2, ECT2 ELISA KIT

ELI-09348h 96 Tests
EUR 824

ECT2 siRNA

20-abx914934
  • EUR 551.00
  • EUR 732.00
  • 15 nmol
  • 30 nmol

ECT2 siRNA

20-abx914935
  • EUR 551.00
  • EUR 732.00
  • 15 nmol
  • 30 nmol

ECT2 Peptide

45-517P 0.1 mg
EUR 338
Description: ECT2 Peptide

ECT2 Antibody, HRP conjugated

1-CSB-PA888001LB01HU
  • EUR 317.00
  • EUR 335.00
  • 100ug
  • 50ug
Description: A polyclonal antibody against ECT2. Recognizes ECT2 from Human. This antibody is HRP conjugated. Tested in the following application: ELISA

ECT2 Antibody, FITC conjugated

1-CSB-PA888001LC01HU
  • EUR 317.00
  • EUR 335.00
  • 100ug
  • 50ug
Description: A polyclonal antibody against ECT2. Recognizes ECT2 from Human. This antibody is FITC conjugated. Tested in the following application: ELISA

ECT2 Antibody, Biotin conjugated

1-CSB-PA888001LD01HU
  • EUR 317.00
  • EUR 335.00
  • 100ug
  • 50ug
Description: A polyclonal antibody against ECT2. Recognizes ECT2 from Human. This antibody is Biotin conjugated. Tested in the following application: ELISA

pCMV-SPORT6-ECT2

PVT12957 2 ug
EUR 391

ECT2 Blocking Peptide

33R-4471 100 ug
EUR 180
Description: A synthetic peptide for use as a blocking control in assays to test for specificity of ECT2 antibody, catalog no. 70R-5714

ECT2 Blocking Peptide

33R-7035 100 ug
EUR 180
Description: A synthetic peptide for use as a blocking control in assays to test for specificity of ECT2 antibody, catalog no. 70R-5730

Anti-Phospho-ECT2 T790 Antibody

P01862 100ug
EUR 432
Description: Rabbit Polyclonal Phospho-ECT2 T790 Antibody. Validated in WB and tested in Human, Mouse, Rat.

Monoclonal ECT2 Antibody, Clone: 1691CT516.3.3

AMM02569G 0.1ml
EUR 484
Description: A Monoclonal antibody against Human ECT2. The antibodies are raised in Mouse and are from clone 1691CT516.3.3. This antibody is applicable in WB, E

Polyclonal Goat Anti-ECT2 Antibody

APG00096G 0.1mg
EUR 484
Description: A polyclonal antibody raised in Goat that recognizes and binds to Human Goat Anti-ECT2 . This antibody is tested and proven to work in the following applications:

Human ECT2 shRNA Plasmid

20-abx951320
  • EUR 801.00
  • EUR 1121.00
  • 150 µg
  • 300 µg

Mouse ECT2 shRNA Plasmid

20-abx970099
  • EUR 801.00
  • EUR 1121.00
  • 150 µg
  • 300 µg

Epithelial Cell Transforming Sequence 2 (ECT2) Antibody

20-abx104055
  • EUR 425.00
  • EUR 133.00
  • EUR 1205.00
  • EUR 578.00
  • EUR 328.00
  • 100 ug
  • 10 ug
  • 1 mg
  • 200 ug
  • 50 ug

Epithelial Cell Transforming Sequence 2 (ECT2) Antibody

20-abx104056
  • EUR 425.00
  • EUR 133.00
  • EUR 1205.00
  • EUR 578.00
  • EUR 328.00
  • 100 ug
  • 10 ug
  • 1 mg
  • 200 ug
  • 50 ug

Epithelial Cell Transforming Sequence 2 (ECT2) Antibody

abx028279-400ul 400 ul
EUR 523

Epithelial Cell Transforming Sequence 2 (ECT2) Antibody

abx028279-80l 80 µl
EUR 286

Epithelial Cell Transforming Sequence 2 (ECT2) Antibody

abx432637-200ul 200 ul
EUR 384

Epithelial Cell Transforming Sequence 2 (ECT2) Antibody

20-abx334431
  • EUR 411.00
  • EUR 1845.00
  • EUR 599.00
  • EUR 182.00
  • EUR 300.00
  • 100 ug
  • 1 mg
  • 200 ug
  • 20 ug
  • 50 ug

Monoclonal ECT2 monoclonal antibody (M01), Clone: 5D4

AMM04340G 0.1mg
EUR 484
Description: A Monoclonal antibody against Human ECT2 monoclonal (M01). The antibodies are raised in mouse and are from clone 5D4. This antibody is applicable in WB

Ect2 ORF Vector (Mouse) (pORF)

ORF043598 1.0 ug DNA
EUR 506

Ect2 ORF Vector (Mouse) (pORF)

ORF043599 1.0 ug DNA
EUR 506

Ect2 ORF Vector (Mouse) (pORF)

ORF043600 1.0 ug DNA
EUR 506

ECT2 ORF Vector (Human) (pORF)

ORF018676 1.0 ug DNA
EUR 405

Epithelial Cell Transforming Sequence 2 (ECT2) Antibody (Biotin)

20-abx272498
  • EUR 453.00
  • EUR 244.00
  • EUR 1316.00
  • EUR 620.00
  • EUR 342.00
  • 100 ug
  • 10 ug
  • 1 mg
  • 200 ug
  • 50 ug

Epithelial Cell Transforming Sequence 2 (ECT2) Antibody (HRP)

20-abx337249
  • EUR 411.00
  • EUR 1845.00
  • EUR 599.00
  • EUR 182.00
  • EUR 300.00
  • 100 ug
  • 1 mg
  • 200 ug
  • 20 ug
  • 50 ug

Epithelial Cell Transforming Sequence 2 (ECT2) Antibody (FITC)

20-abx337250
  • EUR 411.00
  • EUR 1845.00
  • EUR 599.00
  • EUR 182.00
  • EUR 300.00
  • 100 ug
  • 1 mg
  • 200 ug
  • 20 ug
  • 50 ug

Epithelial Cell Transforming Sequence 2 (ECT2) Antibody (Biotin)

20-abx337251
  • EUR 411.00
  • EUR 1845.00
  • EUR 599.00
  • EUR 182.00
  • EUR 300.00
  • 100 ug
  • 1 mg
  • 200 ug
  • 20 ug
  • 50 ug

ECT2 sgRNA CRISPR Lentivector set (Human)

K0652601 3 x 1.0 ug
EUR 339

Ect2 sgRNA CRISPR Lentivector set (Mouse)

K4451601 3 x 1.0 ug
EUR 339

Epithelial Cell Transforming Sequence 2 (ECT2) Polyclonal Antibody (Human)

4-PAC451Hu01
  • EUR 247.00
  • EUR 2510.00
  • EUR 625.00
  • EUR 310.00
  • EUR 214.00
  • 100ul
  • 10ml
  • 1ml
  • 200ul
  • 20ul
Description: A Rabbit polyclonal antibody against Human Epithelial Cell Transforming Sequence 2 (ECT2)

Epithelial Cell Transforming Sequence 2 (ECT2) Polyclonal Antibody (Human)

4-PAC451Hu02
  • EUR 247.00
  • EUR 2510.00
  • EUR 625.00
  • EUR 310.00
  • EUR 214.00
  • 100ul
  • 10ml
  • 1ml
  • 200ul
  • 20ul
Description: A Rabbit polyclonal antibody against Human Epithelial Cell Transforming Sequence 2 (ECT2)

Recombinant Epithelial Cell Transforming Sequence 2 (ECT2)

4-RPC451Hu01
  • EUR 503.20
  • EUR 238.00
  • EUR 1612.00
  • EUR 604.00
  • EUR 1108.00
  • EUR 400.00
  • EUR 3880.00
  • 100 ug
  • 10ug
  • 1 mg
  • 200 ug
  • 500 ug
  • 50ug
  • 5 mg
Description: Recombinant Human Epithelial Cell Transforming Sequence 2 expressed in: E.coli

Recombinant Epithelial Cell Transforming Sequence 2 (ECT2)

4-RPC451Hu02
  • EUR 503.20
  • EUR 238.00
  • EUR 1612.00
  • EUR 604.00
  • EUR 1108.00
  • EUR 400.00
  • EUR 3880.00
  • 100 ug
  • 10ug
  • 1 mg
  • 200 ug
  • 500 ug
  • 50ug
  • 5 mg
Description: Recombinant Human Epithelial Cell Transforming Sequence 2 expressed in: E.coli

Recombinant Epithelial Cell Transforming Sequence 2 (ECT2)

4-RPC451Mu01
  • EUR 485.28
  • EUR 233.00
  • EUR 1544.80
  • EUR 581.60
  • EUR 1063.20
  • EUR 388.00
  • EUR 3712.00
  • 100 ug
  • 10ug
  • 1 mg
  • 200 ug
  • 500 ug
  • 50ug
  • 5 mg
Description: Recombinant Mouse Epithelial Cell Transforming Sequence 2 expressed in: E.coli

ECT2 sgRNA CRISPR Lentivector (Human) (Target 1)

K0652602 1.0 ug DNA
EUR 154

ECT2 sgRNA CRISPR Lentivector (Human) (Target 2)

K0652603 1.0 ug DNA
EUR 154

ECT2 sgRNA CRISPR Lentivector (Human) (Target 3)

K0652604 1.0 ug DNA
EUR 154

Ect2 sgRNA CRISPR Lentivector (Mouse) (Target 1)

K4451602 1.0 ug DNA
EUR 154

Ect2 sgRNA CRISPR Lentivector (Mouse) (Target 2)

K4451603 1.0 ug DNA
EUR 154

Ect2 sgRNA CRISPR Lentivector (Mouse) (Target 3)

K4451604 1.0 ug DNA
EUR 154

Ect2 3'UTR GFP Stable Cell Line

TU155588 1.0 ml Ask for price

Ect2 3'UTR Luciferase Stable Cell Line

TU105588 1.0 ml Ask for price

ECT2 3'UTR Luciferase Stable Cell Line

TU006547 1.0 ml
EUR 2333

ECT2 3'UTR GFP Stable Cell Line

TU056547 1.0 ml
EUR 2333

ECT2 Protein Vector (Mouse) (pPB-C-His)

PV174390 500 ng
EUR 1065

ECT2 Protein Vector (Mouse) (pPB-N-His)

PV174391 500 ng
EUR 1065

ECT2 Protein Vector (Mouse) (pPM-C-HA)

PV174392 500 ng
EUR 1065

ECT2 Protein Vector (Mouse) (pPM-C-His)

PV174393 500 ng
EUR 1065

ECT2 Protein Vector (Mouse) (pPB-C-His)

PV174394 500 ng
EUR 1065

ECT2 Protein Vector (Mouse) (pPB-N-His)

PV174395 500 ng
EUR 1065

ECT2 Protein Vector (Mouse) (pPM-C-HA)

PV174396 500 ng
EUR 1065

ECT2 Protein Vector (Mouse) (pPM-C-His)

PV174397 500 ng
EUR 1065

ECT2 Protein Vector (Mouse) (pPB-C-His)

PV174398 500 ng
EUR 1065

ECT2 Protein Vector (Mouse) (pPB-N-His)

PV174399 500 ng
EUR 1065

ECT2 Protein Vector (Mouse) (pPM-C-HA)

PV174400 500 ng
EUR 1065

ECT2 Protein Vector (Mouse) (pPM-C-His)

PV174401 500 ng
EUR 1065

ECT2 Protein Vector (Human) (pPB-C-His)

PV074701 500 ng
EUR 552

ECT2 Protein Vector (Human) (pPB-N-His)

PV074702 500 ng
EUR 552

ECT2 Protein Vector (Human) (pPM-C-HA)

PV074703 500 ng
EUR 552

ECT2 Protein Vector (Human) (pPM-C-His)

PV074704 500 ng
EUR 552

Epithelial Cell Transforming Sequence 2 (ECT2) Polyclonal Antibody (Human), APC

4-PAC451Hu01-APC
  • EUR 345.00
  • EUR 3275.00
  • EUR 912.00
  • EUR 440.00
  • EUR 219.00
  • 100ul
  • 10ml
  • 1ml
  • 200ul
  • 20ul
Description: A Rabbit polyclonal antibody against Human Epithelial Cell Transforming Sequence 2 (ECT2). This antibody is labeled with APC.

Epithelial Cell Transforming Sequence 2 (ECT2) Polyclonal Antibody (Human), Biotinylated

4-PAC451Hu01-Biotin
  • EUR 311.00
  • EUR 2460.00
  • EUR 727.00
  • EUR 381.00
  • EUR 219.00
  • 100ul
  • 10ml
  • 1ml
  • 200ul
  • 20ul
Description: A Rabbit polyclonal antibody against Human Epithelial Cell Transforming Sequence 2 (ECT2). This antibody is labeled with Biotin.

Epithelial Cell Transforming Sequence 2 (ECT2) Polyclonal Antibody (Human), Cy3

4-PAC451Hu01-Cy3
  • EUR 419.00
  • EUR 4325.00
  • EUR 1175.00
  • EUR 545.00
  • EUR 251.00
  • 100ul
  • 10ml
  • 1ml
  • 200ul
  • 20ul
Description: A Rabbit polyclonal antibody against Human Epithelial Cell Transforming Sequence 2 (ECT2). This antibody is labeled with Cy3.

Epithelial Cell Transforming Sequence 2 (ECT2) Polyclonal Antibody (Human), FITC

4-PAC451Hu01-FITC
  • EUR 296.00
  • EUR 2640.00
  • EUR 750.00
  • EUR 372.00
  • EUR 195.00
  • 100ul
  • 10ml
  • 1ml
  • 200ul
  • 20ul
Description: A Rabbit polyclonal antibody against Human Epithelial Cell Transforming Sequence 2 (ECT2). This antibody is labeled with FITC.

Epithelial Cell Transforming Sequence 2 (ECT2) Polyclonal Antibody (Human), HRP

4-PAC451Hu01-HRP
  • EUR 316.00
  • EUR 2855.00
  • EUR 807.00
  • EUR 398.00
  • EUR 206.00
  • 100ul
  • 10ml
  • 1ml
  • 200ul
  • 20ul
Description: A Rabbit polyclonal antibody against Human Epithelial Cell Transforming Sequence 2 (ECT2). This antibody is labeled with HRP.

Epithelial Cell Transforming Sequence 2 (ECT2) Polyclonal Antibody (Human), PE

4-PAC451Hu01-PE
  • EUR 296.00
  • EUR 2640.00
  • EUR 750.00
  • EUR 372.00
  • EUR 195.00
  • 100ul
  • 10ml
  • 1ml
  • 200ul
  • 20ul
Description: A Rabbit polyclonal antibody against Human Epithelial Cell Transforming Sequence 2 (ECT2). This antibody is labeled with PE.

Epithelial Cell Transforming Sequence 2 (ECT2) Polyclonal Antibody (Human), APC

4-PAC451Hu02-APC
  • EUR 345.00
  • EUR 3275.00
  • EUR 912.00
  • EUR 440.00
  • EUR 219.00
  • 100ul
  • 10ml
  • 1ml
  • 200ul
  • 20ul
Description: A Rabbit polyclonal antibody against Human Epithelial Cell Transforming Sequence 2 (ECT2). This antibody is labeled with APC.

Epithelial Cell Transforming Sequence 2 (ECT2) Polyclonal Antibody (Human), Biotinylated

4-PAC451Hu02-Biotin
  • EUR 311.00
  • EUR 2460.00
  • EUR 727.00
  • EUR 381.00
  • EUR 219.00
  • 100ul
  • 10ml
  • 1ml
  • 200ul
  • 20ul
Description: A Rabbit polyclonal antibody against Human Epithelial Cell Transforming Sequence 2 (ECT2). This antibody is labeled with Biotin.

Epithelial Cell Transforming Sequence 2 (ECT2) Polyclonal Antibody (Human), Cy3

4-PAC451Hu02-Cy3
  • EUR 419.00
  • EUR 4325.00
  • EUR 1175.00
  • EUR 545.00
  • EUR 251.00
  • 100ul
  • 10ml
  • 1ml
  • 200ul
  • 20ul
Description: A Rabbit polyclonal antibody against Human Epithelial Cell Transforming Sequence 2 (ECT2). This antibody is labeled with Cy3.

Epithelial Cell Transforming Sequence 2 (ECT2) Polyclonal Antibody (Human), FITC

4-PAC451Hu02-FITC
  • EUR 296.00
  • EUR 2640.00
  • EUR 750.00
  • EUR 372.00
  • EUR 195.00
  • 100ul
  • 10ml
  • 1ml
  • 200ul
  • 20ul
Description: A Rabbit polyclonal antibody against Human Epithelial Cell Transforming Sequence 2 (ECT2). This antibody is labeled with FITC.

Epithelial Cell Transforming Sequence 2 (ECT2) Polyclonal Antibody (Human), HRP

4-PAC451Hu02-HRP
  • EUR 316.00
  • EUR 2855.00
  • EUR 807.00
  • EUR 398.00
  • EUR 206.00
  • 100ul
  • 10ml
  • 1ml
  • 200ul
  • 20ul
Description: A Rabbit polyclonal antibody against Human Epithelial Cell Transforming Sequence 2 (ECT2). This antibody is labeled with HRP.

Epithelial Cell Transforming Sequence 2 (ECT2) Polyclonal Antibody (Human), PE

4-PAC451Hu02-PE
  • EUR 296.00
  • EUR 2640.00
  • EUR 750.00
  • EUR 372.00
  • EUR 195.00
  • 100ul
  • 10ml
  • 1ml
  • 200ul
  • 20ul
Description: A Rabbit polyclonal antibody against Human Epithelial Cell Transforming Sequence 2 (ECT2). This antibody is labeled with PE.

Human Epithelial Cell Transforming Sequence 2 (ECT2) Protein

20-abx066450
  • EUR 704.00
  • EUR 286.00
  • EUR 2165.00
  • EUR 829.00
  • EUR 495.00
  • 100 ug
  • 10 ug
  • 1 mg
  • 200 ug
  • 50 ug

Human Epithelial Cell Transforming Sequence 2 (ECT2) Protein

20-abx066451
  • EUR 704.00
  • EUR 286.00
  • EUR 2165.00
  • EUR 829.00
  • EUR 495.00
  • 100 ug
  • 10 ug
  • 1 mg
  • 200 ug
  • 50 ug

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