Improving interpretation of genetic testing for hereditary hemorrhagic, thrombotic, and platelet disorders

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Improving interpretation of genetic testing for hereditary hemorrhagic, thrombotic, and platelet disorders

The final 10 years have seen an explosion within the quantity of knowledge out there by next-generation sequencing. These knowledge are advancing rapidly, and this tempo makes it tough for many practitioners to simply sustain with all the new info. Complicating this understanding is usually conflicting details about variant pathogenicity and even in regards to the function of some genes within the pathogenesis of illness. The extra widespread medical use of sequencing has expanded phenotypes, together with the identification of gentle phenotypes related to beforehand critical illness, akin to with some variants in RUNX1, MYH9, ITG2A, and others.

 

A number of organizations have taken up the duty of cataloging and systematically evaluating genes and variants utilizing a standardized strategy and making the info publicly out there in order that others can profit from their gene/variant curation. The efforts in testing for hereditary hemorrhagic, thrombotic, and platelet problems have been led by the Worldwide Society on Thrombosis and Haemostasis Scientific Standardization Committee on Genomics in Thrombosis and Hemostasis, the American Society of Hematology, and the Nationwide Institutes of Well being Nationwide Human Genome Analysis Institute Scientific Genome Useful resource. This text outlines present efforts to enhance the interpretation of genetic testing and the function of standardizing and disseminating info.

By assessing the energy of gene-disease associations, standardizing variant curation tips, sharing genomic knowledge amongst knowledgeable members, and incorporating knowledge from present illness databases, the variety of variants of unsure significance will lower, thereby bettering the worth of genetic testing as a diagnostic software.

 Improving interpretation of genetic testing for hereditary hemorrhagic, thrombotic, and platelet disorders

Improving interpretation of genetic testing for hereditary hemorrhagic, thrombotic, and platelet disorders

Transcriptomic and proteomic analyses of a brand new cytoplasmic male sterile line with a wild Gossypium bickii genetic background

Background: Cotton is a crucial fiber crop however has critical heterosis results, and cytoplasmic male sterility (CMS) is the most important explanation for heterosis in vegetation. Nevertheless, to the very best of our information, no research have investigated CMS Yamian A in cotton with the genetic background of Australian wild Gossypium bickii. Conjoint transcriptomic and proteomic evaluation was first carried out between Yamian A and its maintainer Yamian B.
Outcomes: We detected 550 differentially expressed transcript-derived fragments (TDFs) and at the very least 1013 proteins in anthers at varied developmental levels. Forty-two TDFs and 11 differentially expressed proteins (DEPs) have been annotated by evaluation within the genomic databases of G. austral, G. arboreum and G. hirsutum. Gene Ontology and Kyoto Encyclopedia of Genes and Genomes pathway analyses have been carried out to raised perceive the features of those TDFs and DEPs. Transcriptomic and proteomic outcomes confirmed that UDP-glucuronosyl/UDP-glucosyltransferase, 60S ribosomal protein L13a-4-like, and glutathione S-transferase have been upregulated; whereas warmth shock protein Hsp20, ATPase, F0 complicated, and subunit D have been downregulated on the microspore abortion stage of Yamian A.
As well as, a number of TDFs from the transcriptome and several other DEPs from the proteome have been detected and confirmed by quantitative real-time PCR as being expressed within the buds of seven completely different durations of growth. We established the databases of differentially expressed genes and proteins between Yamian A and its maintainer Yamian B within the anthers at varied developmental levels and constructed an interplay community primarily based on the databases for a complete understanding of the mechanism underlying CMS with a wild cotton genetic background.
Conclusion: We first analyzed the molecular mechanism of CMS Yamian A from the attitude of omics, thereby offering an experimental foundation and theoretical basis for future analysis trying to investigate the abortion mechanism of recent CMS with a wild Gossypium bickii background and to appreciate three-line matching.

Genome-wide transcriptome variation panorama in Ruta chalepensis organs revealed potential genes chargeable for rutin biosynthesis

Ruta chalepensis L., mostly often known as ‘fringed rue,’ is a wonderful and useful bioactive plant that produces a spread of complicated flavonoids, of which rutin is the most important compound current on this plant of nice pharmaceutical and medicinal significance. The current research is a pioneering try to look at the modifications within the transcriptomic panorama of leaf, stem, and root tissues and correlate this with rutin amount in every tissue with a purpose to establish the candidate genes chargeable for rutin biosynthesis and to extend genomic assets in fringed rue.
Comparative transcriptome sequencing of leaves, stems and roots have been carried out utilizing the NovaSeq 6000 platform. The de novo transcriptome meeting generated 254,685 transcripts representing 154,018 genes with GC content material of 42.60% and N50 of 2280 bp. Looking assembled transcripts in opposition to UniRef90 and SwissProt databases annotated 79.7% of them as protein coding. The leaf tissues had the very best rutin content material adopted by stems and roots. A number of differentially expressed genes and transcripts regarding rutin biosynthesis have been recognized in leaves evaluating with roots or stems evaluating with roots. All of the genes identified to be concerned in rutin biosynthesis confirmed up-regulation in leaves as in contrast with roots.
PPAR-BP Blocking Peptide
AF6446-BP 1mg
EUR 195
Phospho-PPAR-BP (Thr1457) Blocking Peptide
AF3446-BP 1mg
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Syringe Connector
SCEB-1 1/pk
EUR 57
PIPET CONTROLLER CONNECTOR
357478 1/pk
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Description: Falcon Liquid Handling Equipment; Falcon Pipet Controllers and Accessories
Female FPLC Connector
FFC-1 1/pk
EUR 78
Male FPLC Connector
MFC-1 1/pk
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100 bp DNA Ladder (100 bp ~ 1,500 bp, with loading dye)
W0636-100 NULL
EUR 0
Universal DNA Marker (100 bp ~ 10,000 bp)
W2583-100 NULL
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Universal DNA Marker (100 bp ~ 10,000 bp)
W2583-50 NULL
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Universal DNA Marker (100 bp ~ 10,000 bp)
W2583-500 NULL
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50/100 bp DNA Ladder (50 bp ~ 1,500 bp, with loading dye)
W109-100 NULL
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PR antibody
70R-13954 100 ug
EUR 322
Description: Affinity purified Rabbit polyclonal PR antibody
PR antibody
10R-1954 100 ul
EUR 349
Description: Mouse monoclonal PR antibody
PR antibody
70R-36087 100 ug
EUR 327
Description: Rabbit polyclonal PR antibody
PR antibody
70R-36593 100 ug
EUR 327
Description: Rabbit polyclonal PR antibody
PR Antibody
BF0581 200ul
EUR 376
Description: PR antibody detects endogenous levels of total PR.
PR-619
A8212-100 100 mg
EUR 374
Description: (2,6-diamino-5-thiocyanatopyridin-3-yl) thiocyanate, also designated as PR-619, is a broad-range reversible and cell-permeable inhibitor of deubiquitylating enzyme (DUB)[1][2][3], potently suppresses the activity of almost all cysteine protease DUBs[4].
PR-619
A8212-25 25 mg
EUR 166
Description: (2,6-diamino-5-thiocyanatopyridin-3-yl) thiocyanate, also designated as PR-619, is a broad-range reversible and cell-permeable inhibitor of deubiquitylating enzyme (DUB)[1][2][3], potently suppresses the activity of almost all cysteine protease DUBs[4].
PR-619
A8212-5 5 mg
EUR 96
Description: (2,6-diamino-5-thiocyanatopyridin-3-yl) thiocyanate, also designated as PR-619, is a broad-range reversible and cell-permeable inhibitor of deubiquitylating enzyme (DUB)[1][2][3], potently suppresses the activity of almost all cysteine protease DUBs[4].
PR-619
A8212-5.1 10 mM (in 1mL DMSO)
EUR 142
Description: (2,6-diamino-5-thiocyanatopyridin-3-yl) thiocyanate, also designated as PR-619, is a broad-range reversible and cell-permeable inhibitor of deubiquitylating enzyme (DUB)[1][2][3], potently suppresses the activity of almost all cysteine protease DUBs[4].
PR-619
A8212-S Evaluation Sample
EUR 81
Description: (2,6-diamino-5-thiocyanatopyridin-3-yl) thiocyanate, also designated as PR-619, is a broad-range reversible and cell-permeable inhibitor of deubiquitylating enzyme (DUB)[1][2][3], potently suppresses the activity of almost all cysteine protease DUBs[4].
PR-619
HY-13814 50mg
EUR 366
CREB-BP Antibody
33346-100ul 100ul
EUR 252
CREB-BP Antibody
33346-50ul 50ul
EUR 187
BP 554 maleate
B6351-10 10 mg
EUR 268
Description: BP-554 maleate is a selective agonist of 5-HT1A receptor [1]. The 5-HT1A receptor is a G protein-coupled receptor for endogenous neurotransmitter serotonin (5-HT) and mediates inhibitory neurotransmission. BP-554 maleate is a selective 5-HT1A receptor agonist.
BP 554 maleate
B6351-50 50 mg
EUR 973
Description: BP-554 maleate is a selective agonist of 5-HT1A receptor [1]. The 5-HT1A receptor is a G protein-coupled receptor for endogenous neurotransmitter serotonin (5-HT) and mediates inhibitory neurotransmission. BP-554 maleate is a selective 5-HT1A receptor agonist.
epsilon BP Antibody
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  • EUR 537.00
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  • 2 µg
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CREB-BP Antibody
AF0139 200ul
EUR 304
Description: CREB-BP antibody detects endogenous levels of total CREB-BP.
PPAR-BP Antibody
AF6446 200ul
EUR 304
Description: PPAR-BP Antibody detects endogenous levels of total PPAR-BP.
PPAR- BP Antibody
ABF6446 100 ug
EUR 438
CREB- BP Antibody
ABF0139 100 ug
EUR 438
BP-1-102
HY-100493 100mg
EUR 1345
Naproxen, BP grade
GP6640-25G 25 g
EUR 174
PIPET CONTROLLER CONNECTOR GASKET
357477 1/pk
EUR 35
Description: Falcon Liquid Handling Equipment; Falcon Pipet Controllers and Accessories
PR Monoclonal Antibody
40481-100ul 100ul
EUR 252
PR Monoclonal Antibody
40481-50ul 50ul
EUR 187
PR 39 (porcine)
B5241-.5 500 ug
EUR 561
PR antibody (Ser294)
70R-35360 100 ug
EUR 327
Description: Purified Rabbit polyclonal PR antibody (Ser294)
PR antibody (Ser400)
70R-36239 100 ug
EUR 327
Description: Rabbit polyclonal PR antibody (Ser400)
PR-4b Antibody
abx018530-100ul 100 ul
EUR 384
  • Shipped within 5-10 working days.
PR-1 Antibody
abx018531-100ul 100 ul
EUR 384
  • Shipped within 5-10 working days.
PR-pha Antibody
abx018532-100ul 100 ul
EUR 384
  • Shipped within 5-10 working days.
PR-3 Antibody
abx018533-100ul 100 ul
EUR 384
  • Shipped within 5-10 working days.
PR-15 Antibody
abx018534-100ul 100 ul
EUR 384
  • Shipped within 5-10 working days.
PR-10c Antibody
abx018535-100ul 100 ul
EUR 384
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PR-2 Antibody
abx018536-100ul 100 ul
EUR 384
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PR-8 Antibody
abx018537-100ul 100 ul
EUR 384
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PR-16 Antibody
abx018538-100ul 100 ul
EUR 384
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PR-6 Antibody
abx018539-100ul 100 ul
EUR 384
  • Shipped within 5-10 working days.
PR-10d Antibody
abx018540-100ul 100 ul
EUR 384
  • Shipped within 5-10 working days.
PR-1a Antibody
abx018542-100ul 100 ul
EUR 384
  • Shipped within 5-10 working days.
PR-1b Antibody
abx018543-100ul 100 ul
EUR 384
  • Shipped within 5-10 working days.
PR-10e Antibody
abx018544-100ul 100 ul
EUR 384
  • Shipped within 5-10 working days.
Pr-Set7 Antibody
20-abx142078
  • EUR 370.00
  • EUR 606.00
  • EUR 300.00
  • 100 ul
  • 200 ul
  • 50 ul
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PR repeat Antibody
abx236744-100ug 100 ug
EUR 551
  • Shipped within 5-12 working days.
PR Monoclonal Antibody
ABM40184-003ml 0.03ml
EUR 158
  • Immunogen information: Synthetic Peptide
  • Applications tips:
Description: A monoclonal antibody for detection of PR from Human, Mouse, Rat. This PR antibody is for IHC-P, IF. It is affinity-purified from mouse ascites by affinity-chromatography using epitope-specific immunogenand is unconjugated. The antibody is produced in mouse by using as an immunogen synthetic peptide
PR Monoclonal Antibody
ABM40184-01ml 0.1ml
EUR 289
  • Immunogen information: Synthetic Peptide
  • Applications tips:
Description: A monoclonal antibody for detection of PR from Human, Mouse, Rat. This PR antibody is for IHC-P, IF. It is affinity-purified from mouse ascites by affinity-chromatography using epitope-specific immunogenand is unconjugated. The antibody is produced in mouse by using as an immunogen synthetic peptide
PR Monoclonal Antibody
ABM40184-02ml 0.2ml
EUR 414
  • Immunogen information: Synthetic Peptide
  • Applications tips:
Description: A monoclonal antibody for detection of PR from Human, Mouse, Rat. This PR antibody is for IHC-P, IF. It is affinity-purified from mouse ascites by affinity-chromatography using epitope-specific immunogenand is unconjugated. The antibody is produced in mouse by using as an immunogen synthetic peptide
PR Polyclonal Antibody
ABP52256-003ml 0.03ml
EUR 158
  • Immunogen information: Synthesized peptide derived from human PR around the non-phosphorylation site of S400
  • Applications tips:
Description: A polyclonal antibody for detection of PR from Human. This PR antibody is for WB, IHC-P, IF, ELISA. 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 synthesized peptide derived from human PR around the non-phosphorylation site of S400
PR Polyclonal Antibody
ABP52256-01ml 0.1ml
EUR 289
  • Immunogen information: Synthesized peptide derived from human PR around the non-phosphorylation site of S400
  • Applications tips:
Description: A polyclonal antibody for detection of PR from Human. This PR antibody is for WB, IHC-P, IF, ELISA. 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 synthesized peptide derived from human PR around the non-phosphorylation site of S400
PR Polyclonal Antibody
ABP52256-02ml 0.2ml
EUR 414
  • Immunogen information: Synthesized peptide derived from human PR around the non-phosphorylation site of S400
  • Applications tips:
Description: A polyclonal antibody for detection of PR from Human. This PR antibody is for WB, IHC-P, IF, ELISA. 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 synthesized peptide derived from human PR around the non-phosphorylation site of S400
Carfilzomib (PR-171)
A1933-10 10 mg
EUR 258
Description: An epoxomicin derivate with potential antineoplastic activity. It irreversibly binds to and inhibits the chymotrypsin-like activity of the 20S proteasome, an enzyme responsible for degrading a large variety of cellular proteins.
Carfilzomib (PR-171)
A1933-25 25 mg
EUR 398
Description: An epoxomicin derivate with potential antineoplastic activity. It irreversibly binds to and inhibits the chymotrypsin-like activity of the 20S proteasome, an enzyme responsible for degrading a large variety of cellular proteins.
Carfilzomib (PR-171)
A1933-5 5 mg
EUR 189
Description: An epoxomicin derivate with potential antineoplastic activity. It irreversibly binds to and inhibits the chymotrypsin-like activity of the 20S proteasome, an enzyme responsible for degrading a large variety of cellular proteins.
Carfilzomib (PR-171)
A1933-5.1 10 mM (in 1mL DMSO)
EUR 224
Description: An epoxomicin derivate with potential antineoplastic activity. It irreversibly binds to and inhibits the chymotrypsin-like activity of the 20S proteasome, an enzyme responsible for degrading a large variety of cellular proteins.
Carfilzomib (PR-171)
A1933-S Evaluation Sample
EUR 81
Description: An epoxomicin derivate with potential antineoplastic activity. It irreversibly binds to and inhibits the chymotrypsin-like activity of the 20S proteasome, an enzyme responsible for degrading a large variety of cellular proteins.
PR Polyclonal Antibody
ABP55582-003ml 0.03ml
EUR 158
  • Immunogen information: Synthesized peptide derived from human PR around the non-phosphorylation site of S294
  • Applications tips:
Description: A polyclonal antibody for detection of PR from Human, Mouse, Rat. This PR antibody is for IHC-P, IF, ELISA. 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 synthesized peptide derived from human PR around the non-phosphorylation site of S294
PR Polyclonal Antibody
ABP55582-01ml 0.1ml
EUR 289
  • Immunogen information: Synthesized peptide derived from human PR around the non-phosphorylation site of S294
  • Applications tips:
Description: A polyclonal antibody for detection of PR from Human, Mouse, Rat. This PR antibody is for IHC-P, IF, ELISA. 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 synthesized peptide derived from human PR around the non-phosphorylation site of S294
PR Polyclonal Antibody
ABP55582-02ml 0.2ml
EUR 414
  • Immunogen information: Synthesized peptide derived from human PR around the non-phosphorylation site of S294
  • Applications tips:
Description: A polyclonal antibody for detection of PR from Human, Mouse, Rat. This PR antibody is for IHC-P, IF, ELISA. 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 synthesized peptide derived from human PR around the non-phosphorylation site of S294
PR Polyclonal Antibody
ABP55583-003ml 0.03ml
EUR 158
  • Immunogen information: Synthesized peptide derived from human PR around the non-phosphorylation site of S190
  • Applications tips:
Description: A polyclonal antibody for detection of PR from Human, Monkey. This PR antibody is for WB, ELISA. 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 synthesized peptide derived from human PR around the non-phosphorylation site of S190
PR Polyclonal Antibody
ABP55583-01ml 0.1ml
EUR 289
  • Immunogen information: Synthesized peptide derived from human PR around the non-phosphorylation site of S190
  • Applications tips:
Description: A polyclonal antibody for detection of PR from Human, Monkey. This PR antibody is for WB, ELISA. 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 synthesized peptide derived from human PR around the non-phosphorylation site of S190
PR Polyclonal Antibody
ABP55583-02ml 0.2ml
EUR 414
  • Immunogen information: Synthesized peptide derived from human PR around the non-phosphorylation site of S190
  • Applications tips:
Description: A polyclonal antibody for detection of PR from Human, Monkey. This PR antibody is for WB, ELISA. 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 synthesized peptide derived from human PR around the non-phosphorylation site of S190
PR Polyclonal Antibody
ES3255-100ul 100ul
EUR 279
Description: A Rabbit Polyclonal antibody against PR from Human. This antibody is tested and validated for WB, ELISA, IHC, IF, WB, ELISA
PR Polyclonal Antibody
ES3255-50ul 50ul
EUR 207
Description: A Rabbit Polyclonal antibody against PR from Human. This antibody is tested and validated for WB, ELISA, IHC, IF, WB, ELISA
anti- PR antibody
FNab09774 100µg
EUR 548.75
  • Recommended dilution: WB: 1:500 - 1:2000
  • IHC: 1:50 - 1:200
  • Immunogen: progesterone receptor
  • Uniprot ID: P06401
  • Gene ID: 5241
  • Research Area: Signal Transduction, Metabolism, Cancer, Immunology, Neuroscience
Description: Antibody raised against PR
PR Polyclonal Antibody
ES6581-100ul 100ul
EUR 279
Description: A Rabbit Polyclonal antibody against PR from Human/Mouse/Rat. This antibody is tested and validated for IHC, IF, WB, ELISA
PR Polyclonal Antibody
ES6581-50ul 50ul
EUR 207
Description: A Rabbit Polyclonal antibody against PR from Human/Mouse/Rat. This antibody is tested and validated for IHC, IF, WB, ELISA
PR Polyclonal Antibody
ES6582-100ul 100ul
EUR 279
Description: A Rabbit Polyclonal antibody against PR from Human/Monkey. This antibody is tested and validated for WB, ELISA, WB, ELISA
PR Polyclonal Antibody
ES6582-50ul 50ul
EUR 207
Description: A Rabbit Polyclonal antibody against PR from Human/Monkey. This antibody is tested and validated for WB, ELISA, WB, ELISA
anti-PR (2F12B4)
LF-MA30089 100 ul
EUR 445
Description: Mouse Monoclonal to PR
Anti-PR antibody
PAab09774 100 ug
EUR 355
Anti-PR antibody
STJ95208 200 µl
EUR 197
Description: Rabbit polyclonal to PR.
Anti-PR antibody
STJ95209 200 µl
EUR 197
Description: Rabbit polyclonal to PR.
Anti-PR antibody
STJ95210 200 µl
EUR 197
Description: Rabbit polyclonal to PR.
Anti-PR antibody
STJ180227 0.1 ml
EUR 258
Anti-PR antibody
STJ97365 200 µl
EUR 197
Description: PR is a protein encoded by the PGR gene which is approximately 98,9 kDa. PR is localised to the nucleus and cytoplasm. It is involved in the oocyte meiosis, gene expression, nuclear receptor transcription pathway and signalling by ERBB4. This protein falls under the steroid receptor superfamily. It mediates the physiological effects of progesterone, which plays a central role in reproductive events associated with the establishment and maintenance of pregnancy. PR is expressed in the heart, lymph nodes, muscle, blood and nervous system. Mutations in the PGR gene may result in progesterone resistance. STJ97365 was developed from clone Z15 and was affinity-purified from mouse ascites by affinity-chromatography using epitope-specific immunogen. The antibody detects endogenous PR protein.
Anti-PR antibody
STJ98331 100 µl
EUR 234
Description: Mouse monoclonal to PR.
Anti-PR antibody
STJ98332 100 µl
EUR 234
Description: Mouse monoclonal to PR.
Anti-PR antibody
STJ98333 100 µl
EUR 234
Description: Mouse monoclonal to PR.
1-3 mm Tube Connector
1296106 6unit
EUR 264
2-4 mm Tube Connector
1296107 6unit
EUR 264
3-5 mm Tube Connector
1296108 6unit
EUR 264
Ran BP-1 antibody
22886-100ul 100ul
EUR 390
Recombinant Human BP-1
7-04579 2µg Ask for price
Recombinant Human BP-1
7-04580 5µg Ask for price
Recombinant Human BP-1
7-04581 10µg Ask for price
Anti-CREB-BP Antibody
A00205 100ul
EUR 397
Description: Rabbit Polyclonal CREB-BP Antibody. Validated in IF, IHC, WB and tested in Human.
These outcomes have been confirmed by gene ontology (GO) and pathway enrichment analyses. Up-regulated genes in leaves as in contrast with roots enriched GO phrases with relation to rutin biosynthesis e.g. motion of flavonol synthase, biosynthetic mechanism of malonyl-CoA, and motion of monooxygenase. Phylogenetic evaluation of the Rhamnosyltransferase (RT) gene confirmed that it was extremely homologues with RT sequence from Citrus species and all have been positioned in the identical clade. This transcriptomic dataset will function an vital public useful resource for future genomics and transcriptomic research in R. chalepensis and can act as a benchmark for the dentification and genetic modification of genes concerned within the biosynthesis of secondary metabolites.

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