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Numéro de catalogue: (BOSSBS-9551R-CY5.5)

Fournisseur:  Bioss
Description:   BEND2 is a 799 amino acid protein that contains two BEN domains. BEND2 exists as two alternatively spliced isoforms and is considered a complete proteome. BEN domain mediates protein–DNA and protein–protein interactions during chromatin organization and transcription. BEN domain may play a role in organization of viral DNA during replication or transcription. The BEND2 gene maps to human chromosome Xp22.13. Chromosome X consists of about 153 million base pairs and nearly 1,000 genes. The X and Y chromosomes are the human sex chromosomes. The combination of an X and Y chromosome lead to normal male development while two copies of X lead to normal female development. Color blindness, hemophilia, and Duchenne muscular dystrophy are well known X chromosome-linked conditions which affect males more frequently as males carry a single X chromosome.
UOM:  1 * 100 µl
Numéro de catalogue: (BOSSBS-13322R-CY5)

Fournisseur:  Bioss
Description:   Glycosylation of asparagine residues in Asn-X-Ser/Thr motifs in proteins commonly occur in the lumen of the endoplasmic reticulum (ER). Glucosidase I catalyzes the first step in the N-linked oligosaccharide processing pathway. It specifically removes the distal alpha 1,2-linked glucose residue from the Glc3-Man9-GlcNAc2 oligosaccharide precursor. Glucosidase I contains a short cytosolic tail, a single pass transmembrane domain and a large C-terminal catalytic domain located on the luminal side of the ER. Mutations in the gene encoding Glucosidase I result in the congenital disorder glycosylation (CDG-IIb), which is characterized by generalized hypotonia, dysmorphic features, hepatomegaly, hypoventilation, feeding problems, seizures and death. Two point mutations in the Glucosidase I gene have been identified and result in amino acid substitutions, namely Arg486Thr and Phe652Leu, that affect polypeptide folding and active site formation.
UOM:  1 * 100 µl
Numéro de catalogue: (BOSSBS-13322R-CY3)

Fournisseur:  Bioss
Description:   Glycosylation of asparagine residues in Asn-X-Ser/Thr motifs in proteins commonly occur in the lumen of the endoplasmic reticulum (ER). Glucosidase I catalyzes the first step in the N-linked oligosaccharide processing pathway. It specifically removes the distal alpha 1,2-linked glucose residue from the Glc3-Man9-GlcNAc2 oligosaccharide precursor. Glucosidase I contains a short cytosolic tail, a single pass transmembrane domain and a large C-terminal catalytic domain located on the luminal side of the ER. Mutations in the gene encoding Glucosidase I result in the congenital disorder glycosylation (CDG-IIb), which is characterized by generalized hypotonia, dysmorphic features, hepatomegaly, hypoventilation, feeding problems, seizures and death. Two point mutations in the Glucosidase I gene have been identified and result in amino acid substitutions, namely Arg486Thr and Phe652Leu, that affect polypeptide folding and active site formation.
UOM:  1 * 100 µl
Numéro de catalogue: (BOSSBS-15343R-CY5)

Fournisseur:  Bioss
Description:   C9orf79 is a 1445 amino acid single-pass membrane protein that belongs to the FAM75 family. The gene encoding C9orf79 maps to human chromosome 9, which consists of about 145 million bases and 4% of the human genome and encodes nearly 900 genes. Considered to play a role in gender determination, deletion of the distal portion of 9p can lead to development of male to female sex reversal, the phenotype of a female with a male X,Y genotype. Hereditary hemorrhagic telangiectasia, which is characterised by harmful vascular defects, is associated with the chromosome 9 gene encoding endoglin protein, ENG. Familial dysautonomia is also associated with chromosome 9 though through the gene IKBKAP. Notably, chromosome 9 encompasses the largest interferon family gene cluster. Chromosome 9 is partnered with chromosome 22 in the translocation leading to the aberrant production of BCR-ABL fusion protein often found in leukemias.
UOM:  1 * 100 µl
Numéro de catalogue: (BOSSBS-12361R)

Fournisseur:  Bioss
Description:   The leucine-rich (LRR) repeat is a 20-30 amino acid motif that forms a hydrophobic å/∫ 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. FLRT1 (fibronectin leucine rich transmembrane protein 1) is a 646 amino acid single-pass type I membrane protein that contains one fibronectin type-III domain and ten LRR repeats. Expressed in kidney and brain, FLRT1 is thought to play a role in cell adhesion and receptor signaling. FLRT1 shares similarity with FLRT2 and FLRT3 and is subject to post-translational N-glycosylation. The gene encoding FLRT1 maps to human chromosome 11, which houses over 1,400 genes and comprises nearly 4% of the human genome.
UOM:  1 * 100 µl
Numéro de catalogue: (BOSSBS-12333R)

Fournisseur:  Bioss
Description:   ERMAP is a single-pass type one membrane protein that belongs to the immunoglobulin superfamily. Expressed in cord blood, fetal liver and adult bone marrow, ERMAP is thought to function as a cell adhesion molecule in erythroid cells and is responsible for expression of the Scianna/Radin (Sc/Rd) blood group antigen system. The Sc/Rd system is comprised of seven antigens that are present on the surface of red blood cells and have a variety of functions ranging from protein transport to cell adhesion. These seven blood antigens can differ in their expression within a population and may sometimes differ between mother and child. A fetus expressing different blood antigens than its mother may cause the mother to produce against the fetal blood. This condition is known as hemolytic disease of the newborn (HDN) and is characterized by jaundice, anemia and in some cases, infant death.
UOM:  1 * 100 µl

Fournisseur:  Bioss
Description:   FOXRED1 is a 486 amino acid single-pass membrane protein. Utilizing FAD as a cofactor, FOXRED1 may act as a chaperone protein essential for the function of mitochondrial complex I. Mutations to FOXRED1 may result in mitochondrial complex I deficiency (MT-C1D), which results in a wide range of clinical maladies from lethal neonatal disease to adult onset neurodegenerative disorders. Common phenotypes of MT-C1D include cardiomyopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. FOXRED1 exists as three alternatively spliced isoforms and is encoded by a gene mapping to human chromosome 11q24.2. With approximately 135 million base pairs and 1,400 genes, chromosome 11 makes up around 4% of human genomic DNA and is considered a gene and disease association dense chromosome.
UOM:  1 * 100 µl
Numéro de catalogue: (BOSSBS-12122R-A680)

Fournisseur:  Bioss
Description:   Voltage-gated sodium channels are selective ion channels that regulate the permeability of sodium ions in excitable cells. During the propagation of an action potential, sodium channels allow an influx of sodium ions, which rapidly depolarizes the cell. Na+ CP type II beta(sodium channel, voltage-gated, type II, beta), also known as SCN2B, is a 215 amino acid single-pass type I membrane protein that plays a critical role in the expression and assembly of the heterotrimeric complex of the sodium channel and interacts with Tenascin-R to influence the clustering and regulation of sodium channels at nodes of Ranvier. Expressed specifically in brain, Na+ CP type II beta contains one Ig-like C2-type (immunoglobulin-like) domain and is encoded by a gene that maps to human chromosome 11q23.3 and mouse chromosome 9 A5.2.
UOM:  1 * 100 µl
Numéro de catalogue: (BOSSBS-12122R-A555)

Fournisseur:  Bioss
Description:   Voltage-gated sodium channels are selective ion channels that regulate the permeability of sodium ions in excitable cells. During the propagation of an action potential, sodium channels allow an influx of sodium ions, which rapidly depolarizes the cell. Na+ CP type II beta(sodium channel, voltage-gated, type II, beta), also known as SCN2B, is a 215 amino acid single-pass type I membrane protein that plays a critical role in the expression and assembly of the heterotrimeric complex of the sodium channel and interacts with Tenascin-R to influence the clustering and regulation of sodium channels at nodes of Ranvier. Expressed specifically in brain, Na+ CP type II beta contains one Ig-like C2-type (immunoglobulin-like) domain and is encoded by a gene that maps to human chromosome 11q23.3 and mouse chromosome 9 A5.2.
UOM:  1 * 100 µl
Numéro de catalogue: (BOSSBS-9551R-A350)

Fournisseur:  Bioss
Description:   BEND2 is a 799 amino acid protein that contains two BEN domains. BEND2 exists as two alternatively spliced isoforms and is considered a complete proteome. BEN domain mediates protein–DNA and protein–protein interactions during chromatin organization and transcription. BEN domain may play a role in organization of viral DNA during replication or transcription. The BEND2 gene maps to human chromosome Xp22.13. Chromosome X consists of about 153 million base pairs and nearly 1,000 genes. The X and Y chromosomes are the human sex chromosomes. The combination of an X and Y chromosome lead to normal male development while two copies of X lead to normal female development. Color blindness, hemophilia, and Duchenne muscular dystrophy are well known X chromosome-linked conditions which affect males more frequently as males carry a single X chromosome.
UOM:  1 * 100 µl
Numéro de catalogue: (BOSSBS-15167R-A555)

Fournisseur:  Bioss
Description:   C3orf20 (chromosome 3 open reading frame 20), also known as DKFZp434N1817, is a 904 amino acid single-pass membrane protein that exists as two alternatively spliced isoforms. C3orf20 is encoded by a gene that maps to human chromosome 3p25.1. Chromosome 3 is made up of approximately 214 million bases encoding over 1,100 genes. Notably, there is a chemokine receptor gene cluster and a variety of human cancer related loci on chromosome 3. Particular regions of the chromosome 3 short arm are deleted in many types of cancer cells. Key tumor suppressing genes on chromosome 3 encode apoptosis mediator RASSF1, cell migration regulator HYAL1 and angiogenesis suppressor SEMA3B. Marfan Syndrome, porphyria, von Hippel-Lindau syndrome, osteogenesis imperfecta and Charcot-Marie-Tooth disease are a few of the numerous genetic diseases associated with chromosome 3.
UOM:  1 * 100 µl
Numéro de catalogue: (BOSSBS-8578R-A350)

Fournisseur:  Bioss
Description:   GRAMD2 is a 354 amino acid single-pass membrane protein that contains one GRAM domain and is encoded by a gene that maps to human chromosome 15q23. Encoding more than 700 genes, chromosome 15 is made up of approximately 106 million base pairs and is about 3% of the human genome. Angelman and Prader-Willi syndromes are associated with loss of function or deletion of genes in the 15q11-q13 region. In the case of Angelman syndrome, this loss is due to inactivity of the maternal 15q11-q13 encoded UBE3A gene in the brain by either chromosomal deletion or mutation. In cases of Prader-Willi syndrome, there is a partial or complete deletion of this region from the paternal copy of chromosome 15. Tay-Sachs disease is a lethal disorder associated with mutations of the HEXA gene, which is encoded by chromosome 15. Marfan syndrome is associated with chromosome 15 through the FBN1 gene.
UOM:  1 * 100 µl
Numéro de catalogue: (BOSSBS-8578R-A488)

Fournisseur:  Bioss
Description:   GRAMD2 is a 354 amino acid single-pass membrane protein that contains one GRAM domain and is encoded by a gene that maps to human chromosome 15q23. Encoding more than 700 genes, chromosome 15 is made up of approximately 106 million base pairs and is about 3% of the human genome. Angelman and Prader-Willi syndromes are associated with loss of function or deletion of genes in the 15q11-q13 region. In the case of Angelman syndrome, this loss is due to inactivity of the maternal 15q11-q13 encoded UBE3A gene in the brain by either chromosomal deletion or mutation. In cases of Prader-Willi syndrome, there is a partial or complete deletion of this region from the paternal copy of chromosome 15. Tay-Sachs disease is a lethal disorder associated with mutations of the HEXA gene, which is encoded by chromosome 15. Marfan syndrome is associated with chromosome 15 through the FBN1 gene.
UOM:  1 * 100 µl
Numéro de catalogue: (BOSSBS-11227R-A555)

Fournisseur:  Bioss
Description:   Microcephalin modulates brain size and has been proliferating under strong positive selection for several thousand years, although the nature of the positive selection is poorly understood. Human Microcephalin contains three BRCA1 C-terminal (BRCT) domains and shares 57% identity with its mouse ortholog, the most conserved regions being BRCT domains where there is 80% identity. Predominant expression of human Microcephalin is observed in fetal brain, liver and kidney tissues and is expressed during neurogenesis in mice. Microcephalin displays significantly higher rates of protein evolution in primates than in rodents; this trend is most noticeable for the subset of genes associated with nervous system development. Microcephalin has a very young, single nucleotide, polymorphism haplotype associated with modern humans; this gene is presumably still evolving in Homo sapiens. It functions in DNA damage response and regulation of cell cycle checkpoints.
UOM:  1 * 100 µl
Numéro de catalogue: (BOSSBS-13322R-A647)

Fournisseur:  Bioss
Description:   Glycosylation of asparagine residues in Asn-X-Ser/Thr motifs in proteins commonly occur in the lumen of the endoplasmic reticulum (ER). Glucosidase I catalyzes the first step in the N-linked oligosaccharide processing pathway. It specifically removes the distal alpha 1,2-linked glucose residue from the Glc3-Man9-GlcNAc2 oligosaccharide precursor. Glucosidase I contains a short cytosolic tail, a single pass transmembrane domain and a large C-terminal catalytic domain located on the luminal side of the ER. Mutations in the gene encoding Glucosidase I result in the congenital disorder glycosylation (CDG-IIb), which is characterized by generalized hypotonia, dysmorphic features, hepatomegaly, hypoventilation, feeding problems, seizures and death. Two point mutations in the Glucosidase I gene have been identified and result in amino acid substitutions, namely Arg486Thr and Phe652Leu, that affect polypeptide folding and active site formation.
UOM:  1 * 100 µl
Numéro de catalogue: (BOSSBS-11166R-A680)

Fournisseur:  Bioss
Description:   Sortilin-related receptor, also known as Sorting protein-related receptor containing LDLR class A (SorLA), is a Type I membrane protein that may be involved in cell-cell interaction. SorLA, a single transmembrane receptor, binds LDL (the main cholesterol-carrying lipoprotein of plasma) and transports it into cells by endocytosis. SorLA is synthesised as a proreceptor which is processed to the mature form by a furin-like propeptidase. It can also bind to RAP, receptor-associated protein. SorLa is a multifunctional endocytis receptor important in lipoprotein and protease uptake. The N-terminal propeptide, which is removed, can be cleaved by furin or homologous proteases. Endogenous sorLA binds the neuropeptide head activator (HA) and is important for HA Signalling and function. It is expressed mainly in brain (cerebral cortex, cerebellum and the occipital pole), but can also be found in liver, spinal cord, kidney, testis and pancreas.
UOM:  1 * 100 µl
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