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6221 results for "3-(Trifluoromethyl)quinoxaline-2-carboxylic+acid&pageNo=31&view=easy"

6221 Results for: "3-(Trifluoromethyl)quinoxaline-2-carboxylic+acid&pageNo=31&view=easy"

Purifier® Vertical Clean Benches

Purifier® Vertical Clean Benches

Supplier: LABCONCO

Clean benches provide product protection from environmental contaminants for applications requiring a particulate-free work area, including plant tissue culture, electronic part inspection, syringe filling, medical device assembly, media plate preparation, and PCR.

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Anti-CPLX1 Rabbit Polyclonal Antibody (Alexa Fluor® 750)

Supplier: Bioss

Complexin 1 and Complexin 2, also designated Synaphin 1 and Synaphin 2, contain an a-helical middle domain of approximately 58 amino acids. Complexin 1 and Complexin 2 are expressed in presynaptic terminals of inhibitory and excitatory hippocampal neurons, respectively, and in cytoplasmic pools during early stages of development. Complexins promote SNARE (soluble N-ethylmaleimide-sensitive factor attachment protein receptors) precomplex formation by binding to synaxin with its a-helical domain. Complexins are important regulators of transmitter release at a late step in calcium dependent neurotransmitter release or immediately after the calcium-triggering step of fast synchronous transmitter release and preceding vesicle fusion. Neurons lacking complexins show reduced transmitter release efficiency due to decreased calcium sensitivity of the synaptic secretion process. Complexin 2 may play a role in LTP (long term potentiation) following tetanic stimulation. A progressive loss of Complexin 2 occurs in the brains of mice carrying the Huntington disease mutation, an autosomal dominant neurodegenerative disorder. Changes in the neurotransmitter release might contribute to the motor, emotional and cognitive dysfunctions seen in these mice.

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Anti-C1orf54 Rabbit Polyclonal Antibody (Alexa Fluor® 350)

Supplier: Bioss

Chromosome 1 is the largest human chromosome spanning about 260 million base pairs and making up 8% of the human genome. There are about 3,000 genes on chromosome 1, and considering the great number of genes there are also a large number of diseases associated with chromosome 1. Notably, the rare aging disease Hutchinson-Gilford progeria is associated with the LMNA gene which encodes lamin A. When defective, the LMNA gene product can build up in the nucleus and cause characteristic nuclear blebs. The mechanism of rapidly enhanced aging is unclear and is a topic of continuing exploration. The MUTYH gene is located on chromosome 1 and is partially responsible for familial adenomatous polyposis. Stickler syndrome, Parkinsons, Gaucher disease and Usher syndrome are also associated with chromosome 1. A breakpoint has been identified in 1q which disrupts the DISC1 gene and is linked to schizophrenia. Aberrations in chromosome 1 are found in a variety of cancers including head and neck cancer, malignant melanoma and multiple myeloma. The C1orf54 gene product has been provisionally designated C1orf54 pending further characterization.

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Universal General Purpose Ultra-Low Freezers, TSX

Supplier: REVCO TECHNOLOGIES

The TSX Universal heralds a new era in performance with Universal V-Drive technology, delivering tighter control and faster recovery times. Coupled with an expanded setpoint range, universal voltage, whisper-quiet operation, simplified software updates and much more, TSX Universal seamlessly adapts to your workflow.

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Anti-NEDD8 Rabbit Polyclonal Antibody (Alexa Fluor® 750)

Supplier: Bioss

Ubiquitin like proteins fall into two classes: the first class, ubiquitin-like modifiers (UBLs) function as modifiers in a manner analogous to that of ubiquitin. Examples of UBLs are SUMO, Rub1 (also called Nedd8), Apg12 and Hub1. Proteins of the second class include Parkin, RAD23 and DSK2, are designated ubiquitin domain proteins (UDPs). These proteins contain domains that are related to ubiquitin but are otherwise unrelated to each other. In contrast to UBLs, UDPs are not proteolytically processed or conjugated to other proteins. Rub1 and the corresponding human homolog NEDD8 are activated by the E1 ubiquitin activating enzyme UBA2, that forms isopeptide linkages between thio esters. NEDD8 shows 80% homology to ubiquitin. The best known targets of Rub1 modification are members of the cullin family. Cullins are subunits of an E3 ubiquitin ligase complex called the Skp1 /Cul1/Cdc53 F box (SCF). The SCF promotes transfer of ubiquitin from a ubiquitin conjugating enzyme (E2) to the target protein. Rub1 modification may regulate SCF function or localization.

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Industrial jacket, Fristads® PR54-420, design A, dark grey

Industrial jacket, Fristads® PR54-420, design A, dark grey

Supplier: FRISTADS KANSAS

Thanks to its durability and high degree of comfort, the PR54 jacket is perfectly suited to workshops and industrial and service enterprises. The material is made from 65% polyester and 35% cotton. The inside is brushed and as a result conveys a pleasantly comfortably cotton feeling. The outside is also resistant to the roughest demands and will not fade even after countless washes.

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Zarate Trousers with ARC Protection

Supplier: SIOEN

Multifunctional and anti-static ARC trousers that provide excellent protection against arcs, heat, and metal splashes.

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Trousers, KX3 Cargo T801

Trousers, KX3 Cargo T801

Supplier: Portwest

Slim fitting cargo trouser made from durable cotton stretch fabric that delivers long lasting comfort and freedom of movement. Packed full of features to offer enhanced performance including pre-bent knees, a high rise back waistband and an adjustable leg length for added convenience.

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Anti-MMP2 Rabbit Polyclonal Antibody (Alexa Fluor® 680)

Supplier: Bioss

Ubiquitinous metalloproteinase that is involved in diverse functions such as remodelling of the vasculature, angiogenesis, tissue repair, tumor invasion, inflammation, and atherosclerotic plaque rupture. As well as degrading extracellular matrix proteins, can also act on several nonmatrix proteins such as big endothelial 1 and beta-type CGRP promoting vasoconstriction. Also cleaves KISS at a Gly-|-Leu bond. Appears to have a role in myocardial cell death pathways. Contributes to myocardial oxidative stress by regulating the activity of GSK3beta. Cleaves GSK3beta in vitro. Involved in the formation of the fibrovascular tissues in association with MMP14. PEX, the C-terminal non-catalytic fragment of MMP2, posseses anti-angiogenic and anti-tumor properties and inhibits cell migration and cell adhesion to FGF2 and vitronectin. Ligand for integrinv/beta3 on the surface of blood vessels. Isoform 2: Mediates the proteolysis of CHUK/IKKA and initiates a primary innate immune response by inducing mitochondrial-nuclear stress signaling with activation of the pro-inflammatory NF-kappaB, NFAT and IRF transcriptional pathways.

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Anti-LRRTM3 Rabbit Polyclonal Antibody (Alexa Fluor® 750)

Supplier: Bioss

The leucine-rich (LRR) repeat is a 20 to 30 amino acid motif that forms a hydrophobic Alpha/Beta horseshoe fold, allowing it to accommodate several leucine residues within a tightly packed core. All LRR repeats contain a variable segment and a highly conserved segment, the latter of which accounts for 11 or 12 residues of the entire LRR motif. The LRRTM protein family plays a role in the regulation of various cellular events during nervous system development. Localizing predominantly to the nervous system, LRRTM family members are known to exhibit synaptogenic activity. LRRTM3 (leucine rich repeat transmembrane neuronal 3) is a 581 amino acid single-pass type I membrane protein belonging to the LRRTM family. LRRTM3 is involved in the development and maintenance of the vertebrate nervous system, and contains ten LRR repeats. Expressed in neuronal tissues, LRRTM3 is encoded by a gene that maps to a region of chromosome 10 that has been linked to late-onset Alzheimer disease and elevated plasma Beta-Amyloid. As a result of alternative splicing events, two LRRTM3 isoforms exist.

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Anti-LRRTM3 Rabbit Polyclonal Antibody (Alexa Fluor® 680)

Supplier: Bioss

The leucine-rich (LRR) repeat is a 20 to 30 amino acid motif that forms a hydrophobic Alpha/Beta horseshoe fold, allowing it to accommodate several leucine residues within a tightly packed core. All LRR repeats contain a variable segment and a highly conserved segment, the latter of which accounts for 11 or 12 residues of the entire LRR motif. The LRRTM protein family plays a role in the regulation of various cellular events during nervous system development. Localizing predominantly to the nervous system, LRRTM family members are known to exhibit synaptogenic activity. LRRTM3 (leucine rich repeat transmembrane neuronal 3) is a 581 amino acid single-pass type I membrane protein belonging to the LRRTM family. LRRTM3 is involved in the development and maintenance of the vertebrate nervous system, and contains ten LRR repeats. Expressed in neuronal tissues, LRRTM3 is encoded by a gene that maps to a region of chromosome 10 that has been linked to late-onset Alzheimer disease and elevated plasma Beta-Amyloid. As a result of alternative splicing events, two LRRTM3 isoforms exist.

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Anti-C1ORF111 Rabbit Polyclonal Antibody (Alexa Fluor® 647)

Supplier: Bioss

Chromosome 1 is the largest human chromosome spanning about 260 million base pairs and making up 8% of the human genome. There are about 3,000 genes on chromosome 1, and considering the great number of genes there are also a large number of diseases associated with chromosome 1. Notably, the rare aging disease Hutchinson-Gilford progeria is associated with the LMNA gene which encodes lamin A. When defective, the LMNA gene product can build up in the nucleus and cause characteristic nuclear blebs. The mechanism of rapidly enhanced aging is unclear and is a topic of continuing exploration. The MUTYH gene is located on chromosome 1 and is partially responsible for familial adenomatous polyposis. Stickler syndrome, Parkinsons, Gaucher disease and Usher syndrome are also associated with chromosome 1. A breakpoint has been identified in 1q which disrupts the DISC1 gene and is linked to schizophrenia. Aberrations in chromosome 1 are found in a variety of cancers including head and neck cancer, malignant melanoma and multiple myeloma. The C1orf111 gene product has been provisionally designated C1orf111 pending further characterization.

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Anti-CPLX1 Rabbit Polyclonal Antibody (Alexa Fluor® 680)

Supplier: Bioss

Complexin 1 and Complexin 2, also designated Synaphin 1 and Synaphin 2, contain an a-helical middle domain of approximately 58 amino acids. Complexin 1 and Complexin 2 are expressed in presynaptic terminals of inhibitory and excitatory hippocampal neurons, respectively, and in cytoplasmic pools during early stages of development. Complexins promote SNARE (soluble N-ethylmaleimide-sensitive factor attachment protein receptors) precomplex formation by binding to synaxin with its a-helical domain. Complexins are important regulators of transmitter release at a late step in calcium dependent neurotransmitter release or immediately after the calcium-triggering step of fast synchronous transmitter release and preceding vesicle fusion. Neurons lacking complexins show reduced transmitter release efficiency due to decreased calcium sensitivity of the synaptic secretion process. Complexin 2 may play a role in LTP (long term potentiation) following tetanic stimulation. A progressive loss of Complexin 2 occurs in the brains of mice carrying the Huntington disease mutation, an autosomal dominant neurodegenerative disorder. Changes in the neurotransmitter release might contribute to the motor, emotional and cognitive dysfunctions seen in these mice.

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Anti-ELAVL2 + ELAVL4 Rabbit Polyclonal Antibody (Alexa Fluor® 750)

Supplier: Bioss

The Elav-like genes encode for a family of RNA-binding proteins. Elav, a Drosophila protein and the first described member, is expressed immediately after neuroblastic differentiation into neurons and is necessary for neuronal differentiation and maintenance. Several mammalian Elav-like proteins, designated HuC, HuD and Hel-N1, are also expressed in postmitotic neurons. An additional mammalian homolog, HuR, which is also designated HuA, is ubiquitously expressed and is also overexpressed in a wide variety of tumours. Characteristically, these homologs all contain three RNA recognition motifs (RRM) and they specifically bind to AU-rich elements (ARE) in the 3'-untranslated region of mRNAs transcripts. ARE sites target mRNA for rapid degradation and thereby regulate the expression levels of genes involved in cell growth and differentiation. When Elav-like proteins associate with these ARE sites this degradation is inhibited, leading to an increased stability of the corresponding transcript. Elav proteins function within the nucleus, and they are shuttled between the nucleus and cytoplasm by a nuclear export signal, which is a regulatory feature of the Elav-like proteins as it limits their accessibility to ARE sites.

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Anti-C1orf54 Rabbit Polyclonal Antibody (FITC (Fluorescein Isothiocyanate))

Supplier: Bioss

Chromosome 1 is the largest human chromosome spanning about 260 million base pairs and making up 8% of the human genome. There are about 3,000 genes on chromosome 1, and considering the great number of genes there are also a large number of diseases associated with chromosome 1. Notably, the rare aging disease Hutchinson-Gilford progeria is associated with the LMNA gene which encodes lamin A. When defective, the LMNA gene product can build up in the nucleus and cause characteristic nuclear blebs. The mechanism of rapidly enhanced aging is unclear and is a topic of continuing exploration. The MUTYH gene is located on chromosome 1 and is partially responsible for familial adenomatous polyposis. Stickler syndrome, Parkinsons, Gaucher disease and Usher syndrome are also associated with chromosome 1. A breakpoint has been identified in 1q which disrupts the DISC1 gene and is linked to schizophrenia. Aberrations in chromosome 1 are found in a variety of cancers including head and neck cancer, malignant melanoma and multiple myeloma. The C1orf54 gene product has been provisionally designated C1orf54 pending further characterization.

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Anti-C1ORF111 Rabbit Polyclonal Antibody (Alexa Fluor® 488)

Supplier: Bioss

Chromosome 1 is the largest human chromosome spanning about 260 million base pairs and making up 8% of the human genome. There are about 3,000 genes on chromosome 1, and considering the great number of genes there are also a large number of diseases associated with chromosome 1. Notably, the rare aging disease Hutchinson-Gilford progeria is associated with the LMNA gene which encodes lamin A. When defective, the LMNA gene product can build up in the nucleus and cause characteristic nuclear blebs. The mechanism of rapidly enhanced aging is unclear and is a topic of continuing exploration. The MUTYH gene is located on chromosome 1 and is partially responsible for familial adenomatous polyposis. Stickler syndrome, Parkinsons, Gaucher disease and Usher syndrome are also associated with chromosome 1. A breakpoint has been identified in 1q which disrupts the DISC1 gene and is linked to schizophrenia. Aberrations in chromosome 1 are found in a variety of cancers including head and neck cancer, malignant melanoma and multiple myeloma. The C1orf111 gene product has been provisionally designated C1orf111 pending further characterization.

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Anti-C1ORF111 Rabbit Polyclonal Antibody (Alexa Fluor® 555)

Supplier: Bioss

Chromosome 1 is the largest human chromosome spanning about 260 million base pairs and making up 8% of the human genome. There are about 3,000 genes on chromosome 1, and considering the great number of genes there are also a large number of diseases associated with chromosome 1. Notably, the rare aging disease Hutchinson-Gilford progeria is associated with the LMNA gene which encodes lamin A. When defective, the LMNA gene product can build up in the nucleus and cause characteristic nuclear blebs. The mechanism of rapidly enhanced aging is unclear and is a topic of continuing exploration. The MUTYH gene is located on chromosome 1 and is partially responsible for familial adenomatous polyposis. Stickler syndrome, Parkinsons, Gaucher disease and Usher syndrome are also associated with chromosome 1. A breakpoint has been identified in 1q which disrupts the DISC1 gene and is linked to schizophrenia. Aberrations in chromosome 1 are found in a variety of cancers including head and neck cancer, malignant melanoma and multiple myeloma. The C1orf111 gene product has been provisionally designated C1orf111 pending further characterization.

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Anti-C1orf54 Rabbit Polyclonal Antibody (Alexa Fluor® 488)

Supplier: Bioss

Chromosome 1 is the largest human chromosome spanning about 260 million base pairs and making up 8% of the human genome. There are about 3,000 genes on chromosome 1, and considering the great number of genes there are also a large number of diseases associated with chromosome 1. Notably, the rare aging disease Hutchinson-Gilford progeria is associated with the LMNA gene which encodes lamin A. When defective, the LMNA gene product can build up in the nucleus and cause characteristic nuclear blebs. The mechanism of rapidly enhanced aging is unclear and is a topic of continuing exploration. The MUTYH gene is located on chromosome 1 and is partially responsible for familial adenomatous polyposis. Stickler syndrome, Parkinsons, Gaucher disease and Usher syndrome are also associated with chromosome 1. A breakpoint has been identified in 1q which disrupts the DISC1 gene and is linked to schizophrenia. Aberrations in chromosome 1 are found in a variety of cancers including head and neck cancer, malignant melanoma and multiple myeloma. The C1orf54 gene product has been provisionally designated C1orf54 pending further characterization.

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Anti-MMP2 Rabbit Polyclonal Antibody (Alexa Fluor® 750)

Supplier: Bioss

Ubiquitinous metalloproteinase that is involved in diverse functions such as remodelling of the vasculature, angiogenesis, tissue repair, tumor invasion, inflammation, and atherosclerotic plaque rupture. As well as degrading extracellular matrix proteins, can also act on several nonmatrix proteins such as big endothelial 1 and beta-type CGRP promoting vasoconstriction. Also cleaves KISS at a Gly-|-Leu bond. Appears to have a role in myocardial cell death pathways. Contributes to myocardial oxidative stress by regulating the activity of GSK3beta. Cleaves GSK3beta in vitro. Involved in the formation of the fibrovascular tissues in association with MMP14. PEX, the C-terminal non-catalytic fragment of MMP2, posseses anti-angiogenic and anti-tumor properties and inhibits cell migration and cell adhesion to FGF2 and vitronectin. Ligand for integrinv/beta3 on the surface of blood vessels. Isoform 2: Mediates the proteolysis of CHUK/IKKA and initiates a primary innate immune response by inducing mitochondrial-nuclear stress signaling with activation of the pro-inflammatory NF-kappaB, NFAT and IRF transcriptional pathways.

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VWR®, Bottle-Top Vacuum Filtration Systems, High Performance

VWR®, Bottle-Top Vacuum Filtration Systems, High Performance

Supplier: VWR Collection

Designed for the preparation of buffers, tissue culture media, microbiological media and other biological fluids. These vacuum filtration systems feature large diameter high performance PES membranes for guaranteed performance and maximum throughput. The full assembly includes a filtration unit and a receiver bottle with an ergonomic shape, moulded finger grips and a patented bottle cap. The centrifuge tube and funnel system allows the user to filter fluids directly into a 15 or 50 ml tube.

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Industrial jacket, Fristads® PR54-420, design A, navy blue

Industrial jacket, Fristads® PR54-420, design A, navy blue

Supplier: FRISTADS KANSAS

Thanks to its durability and high degree of comfort, the PR54 jacket is perfectly suited to workshops and industrial and service enterprises. The material is made from 65% polyester and 35% cotton. The inside is brushed and as a result conveys a pleasantly comfortably cotton feeling. The outside is also resistant to the roughest demands and will not fade even after countless washes.

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Anti-BAP31 Rabbit Polyclonal Antibody

Anti-BAP31 Rabbit Polyclonal Antibody

Supplier: ProSci Inc.

BAP31 Antibody: Bap31 and the related protein Bap29 are endoplasmic reticulum (ER) and ER-vesicle membrane proteins and members of the B-cell receptor-associated protein family. These two proteins are highly homologous and can form homo- and heterodimers. Bap31 is thought to be involved in the intracellular trafficking of several molecules such as MHC Class I molecules and CD11b/CD18. Bap31 may also play a role in the initiation of ER stress-induced apoptosis through its association with caspase-8 via a death effector domain in its cytoplasmic tail, possibly through the promotion of membrane fragmentation and the release of cytochrome c from mitochondria. Bap31 itself contains two caspase cleavage sites and is cleaved during apoptosis. The p20 fragment of Bap31, when expressed ectopically, is also a potent inducer cell death.

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Multi-channel pipettes, mechanical, variable volume, PIPETMAN® L

Multi-channel pipettes, mechanical, variable volume, PIPETMAN® L

Supplier: GILSON

Designed for performance and comfort, PIPETMAN® L comes in a comprehensive range of models, adapted to your needs in the lab. PIPETMAN L air-displacement pipettes cover a full volume range. Comfortable, precise, accurate, and reliable, use PIPETMAN L pipettes confidently in your applications.

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Filtered balance systems, XPert™

Filtered balance systems, XPert™

Supplier: LABCONCO

These portable systems provide user protection by keeping powders and particulates contained during weighing procedures. The built-in blower and HEPA filter are mounted in the upper plenum to save space, and the enclosures have low installation costs and require no outside ducting. Systems also provide quiet operation as low as 45 dBA, depending on face velocity.

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Plate Reader Advanced, Neogen® Petrifilm®

Plate Reader Advanced, Neogen® Petrifilm®

Supplier: 3M Food Safety

The Neogen® Petrifilm® Plate Reader Advanced enumerates 11 different Neogen® Petrifilm Plates: Rapid Aerobic Count Plate, Rapid Coliform Count Plate, Rapid E. coli/Coliform Count Plate, Rapid Yeast and Mold Count Plate, Aerobic Count Plate, Coliform Count Plate, Enterobacteriaceae Count Plate, E. coli/Coliform Count Plate, Select E. coli Count Plate, Staph Express Count Plate, Staph Express Disk, and Lactic Acid Bacteria Count Plate.

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Ductless filtering chemical storage cabinets, Captair® Smart

Ductless filtering chemical storage cabinets, Captair® Smart

Supplier: ERLAB CAPTAIRE

The Captair® Smart filtering chemical storage cabinets are designed with a simple and innovative way of communication. Smart Technology uses simple light to show that the unit is operating safely so the user can focus his attention on what is most important: his work. Smart Technology enables visual light to indicate the hood status. A simple light pattern indicates if the air flow is compromised, if there is a fan failure, a filter breakthrough or if the doors are open.
Please complete the quote request to enable us to assist you in finding the right unit for your application.
https://uk.cmd2.vwr.com/bin/public/fc/main?f=Y5&pimid=17028583

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System for parasitological examination of stool, ParasiTrap® AF

System for parasitological examination of stool, ParasiTrap® AF

Supplier: Biosepar

ParasiTrap® enables detection of worm eggs, protozoa and larvae. The ParasiTrap® is a transport and testing system for the parasitological examination of stools in human and veterinary medicine. It is a completely closed system with 4 simple steps to make the diagnosis: 1. load tube with sample; 2. add solvent and stain; 3. filter and concentrate; 4. examine under microscope. It was developed to facilitate the unpleasant task of processing infectious stools in laboratory environments, reduce risk of infection and ensure the best possible yield of parasites. The closed system also allows macroscopic diagnostic procedures to be performed where necessary. This diagnostics concept fully complies with the modern quality management criteria of national and international guidelines (EU, CDC, WHO, BGA, DPG). All systems are free of merthiolate and ether. The ParasiTrap® AF-System contains a filled processing and transport tube I (with Medium AF) and the processing tube II with integrated stainless steel filter system. Accessories: separation medium B, staining solution medium C, Pasteur pipettes (disposable), spoons and cotton wool sticks. Additional screw caps for processing tube II.

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Autoclaves, large capacity, Priorclave

Autoclaves, large capacity, Priorclave

Supplier: Priorclave

These autoclaves combine a huge internal capacity with a small floor area and are ideally suited for use in a wide range of sterilising applications such as media preparation, liquids and diluent, waste, glassware, instruments and apparatus. They are extensively used within many industries, including food, drink, dairy, pharmaceutical, agricultural, education, healthcare, research establishments and industry. All Priorclaves come complete with Biomaster antimicrobial coating, helping improved laboratory hygiene; it is effective against all bacteria and fungi including MRSA and therefore helps minimise the risk of cross contamination.

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Anti-C1ORF111 Rabbit Polyclonal Antibody (HRP (Horseradish Peroxidase))

Supplier: Bioss

Chromosome 1 is the largest human chromosome spanning about 260 million base pairs and making up 8% of the human genome. There are about 3,000 genes on chromosome 1, and considering the great number of genes there are also a large number of diseases associated with chromosome 1. Notably, the rare aging disease Hutchinson-Gilford progeria is associated with the LMNA gene which encodes lamin A. When defective, the LMNA gene product can build up in the nucleus and cause characteristic nuclear blebs. The mechanism of rapidly enhanced aging is unclear and is a topic of continuing exploration. The MUTYH gene is located on chromosome 1 and is partially responsible for familial adenomatous polyposis. Stickler syndrome, Parkinsons, Gaucher disease and Usher syndrome are also associated with chromosome 1. A breakpoint has been identified in 1q which disrupts the DISC1 gene and is linked to schizophrenia. Aberrations in chromosome 1 are found in a variety of cancers including head and neck cancer, malignant melanoma and multiple myeloma. The C1orf111 gene product has been provisionally designated C1orf111 pending further characterization.

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Anti-C1ORF111 Rabbit Polyclonal Antibody (Alexa Fluor® 750)

Supplier: Bioss

Chromosome 1 is the largest human chromosome spanning about 260 million base pairs and making up 8% of the human genome. There are about 3,000 genes on chromosome 1, and considering the great number of genes there are also a large number of diseases associated with chromosome 1. Notably, the rare aging disease Hutchinson-Gilford progeria is associated with the LMNA gene which encodes lamin A. When defective, the LMNA gene product can build up in the nucleus and cause characteristic nuclear blebs. The mechanism of rapidly enhanced aging is unclear and is a topic of continuing exploration. The MUTYH gene is located on chromosome 1 and is partially responsible for familial adenomatous polyposis. Stickler syndrome, Parkinsons, Gaucher disease and Usher syndrome are also associated with chromosome 1. A breakpoint has been identified in 1q which disrupts the DISC1 gene and is linked to schizophrenia. Aberrations in chromosome 1 are found in a variety of cancers including head and neck cancer, malignant melanoma and multiple myeloma. The C1orf111 gene product has been provisionally designated C1orf111 pending further characterization.

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