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Fournisseur:  Bioss
Description:   E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. Involved in the pathway leading to the degradation of VEGFR-2/KDFR, independently of its ubiquitin-ligase activity. Monoubiquitinates IGF1R at multiple sites, thus leading to receptor internalization and degradation in lysosomes. Ubiquitinates FGFR1, leading to receptor internalization and degradation in lysosomes. Promotes ubiquitination of RAPGEF2. According to PubMed:18562292 the direct link between NEDD4 and PTEN regulation through polyubiquitination described in PubMed:17218260 is questionable. Involved in ubiquitination of ERBB4 intracellular domain E4ICD. Involved in the budding of many viruses. Part of a signaling complex composed of NEDD4, RAP2A and TNIK which regulates neuronal dendrite extension and arborization during development. Ubiquitinates TNK2 and regulates EGF-induced degradation of EGFR and TNF2. Involved in the ubiquitination of ebola virus VP40 protein and this ubiquitination plays a role in facilitating viral budding.
UOM:  1 * 100 µl

Fournisseur:  Bioss
Description:   BRP44L, also known as HSPC040 or CGI-129, is a 109 amino acid mitochondrial protein belonging to the UPF0041 family. The gene that encodes BRP44L maps to human chromosome 6. Making up nearly 6% of the human genome, chromosome 6 contains around 1,200 genes within 170 million base pairs of sequence. Deletion of a portion of the q arm of chromosome 6 is associated with early onset intestinal cancer suggesting the presence of a cancer susceptibility locus. Porphyria cutanea tarda is associated with chromosome 6 through the HFE gene which, when mutated, predisposes an individual to developing this porphyria. Notably, the PARK2 gene, which is associated with Parkinson's disease, and the genes encoding the major histocompatiblity complex proteins, which are key molecular components of the immune system and determine predisposition to rheumatic diseases, are also located on chromosome 6. Stickler syndrome, 21-hydroxylase deficiency and maple syrup urine disease are also associated with genes on chromosome 6. A bipolar disorder susceptibility locus has been identified on the q arm of chromosome 6.
UOM:  1 * 100 µl

Fournisseur:  Bioss
Description:   The serine proteinase inhibitors (serpins) compose a superfamily of proteins with a diverse set of functions, including the control of blood coagulation, complement activation, programmed cell death and development. Serpins are secreted glycoproteins that contain a stretch of peptide that mimics a true substrate for a corresponding serine protease. SerpinB11 (serpin peptidase inhibitor, clade B (ovalbumin), member 11), also known as EPIPIN or SERPIN11, is a 392 amino acid cytoplasmic protein that belongs to the Ov-serpin subfamily and serpin family. Like other members of the serpin family, SerpinB11 has been identified as a noninhibitory intracellular protein. The gene encoding SerpinB11 maps to human chromosome 18, which houses over 300 protein-coding genes and contains nearly 76 million bases. There are a variety of diseases associated with defects in chromosome 18-localized genes, some of which include Trisomy 18 (also known as Edwards syndrome), Niemann-Pick disease, hereditary hemorrhagic telangiectasia, erythropoietic protoporphyria and follicular lymphomas.
UOM:  1 * 100 µl

Fournisseur:  Bioss
Description:   CARKD is a 347 amino acid protein that belongs to the YjeF family and exists as three alternatively spliced isoforms. Containing one YjeF C-terminal domain, CARKD is encoded by a gene that maps to human chromosome 13q34. Chromosome 13 contains around 114 million base pairs and 400 genes. Key tumor suppressor genes on chromosome 13 include the breast cancer susceptibility gene, BRCA2, and the RB1 (retinoblastoma) gene. RB1 encodes a crucial tumor suppressor protein which, when defective, leads to malignant growth in the retina and has been implicated in a variety of other cancers. The gene SLITRK1, which is associated with Tourette syndrome, is on chromosome 13. As with most chromosomes, polysomy of part or all of chromosome 13 is deleterious to development and decreases the odds of survival. Trisomy 13, also known as Patau syndrome, is quite deadly and the few who survive past one year suffer from permanent neurologic defects, difficulty eating and vulnerability to serious respiratory infections.
UOM:  1 * 100 µl

Fournisseur:  Bioss
Description:   Eukaryotic RNA polymerase II mediates the synthesis of mature and functional messenger RNA. This is a multistep process, called the transcription cycle, that includes five stages: preinitiation, promoter, clearance, elongation and termination. Elongation is thought to be a critical stage for the regulation of gene expression. ELL (11-19 lysine-rich leukemia protein), also designated MEN, functions as an RNA polymerase II elongation factor that increases the rate of transcription by suppressing transient pausing by RNA polymerase II. It is also thought to regulate cellular proliferation. ELL is abundantly expressed in peripheral blood leukocytes, skeletal muscle, placenta and testis, with lower expression in spleen, thymus, heart, brain, lung, kidney, liver and ovary. The gene encoding human ELL, which maps to chromosome 19p13.1, is one of several genes that undergo translocation with the MLL gene on chromosome 11q23 in acute myeloid leukemia. MLL (myeloid/lymphoid leukemia, also designated ALL-1 and HRX) regulates embryonal and hematopoietic development.
UOM:  1 * 100 µl
Numéro de catalogue: (BOSSBS-8515R-A647)

Fournisseur:  Bioss
Description:   Eukaryotic RNA polymerase II mediates the synthesis of mature and functional messenger RNA. This is a multistep process, called the transcription cycle, that includes five stages: preinitiation, promoter, clearance, elongation and termination. Elongation is thought to be a critical stage for the regulation of gene expression. ELL (11-19 lysine-rich leukemia protein), also designated MEN, functions as an RNA polymerase II elongation factor that increases the rate of transcription by suppressing transient pausing by RNA polymerase II. It is also thought to regulate cellular proliferation. ELL is abundantly expressed in peripheral blood leukocytes, skeletal muscle, placenta and testis, with lower expression in spleen, thymus, heart, brain, lung, kidney, liver and ovary. The gene encoding human ELL, which maps to chromosome 19p13.1, is one of several genes that undergo translocation with the MLL gene on chromosome 11q23 in acute myeloid leukemia. MLL (myeloid/lymphoid leukemia, also designated ALL-1 and HRX) regulates embryonal and hematopoietic development.
UOM:  1 * 100 µl

Fournisseur:  Bioss
Description:   Constitutively active protein kinase that acts as a negative regulator in the hormonal control of glucose homeostasis, Wnt signaling and regulation of transcription factors and microtubules, by phosphorylating and inactivating glycogen synthase (GYS1 or GYS2), CTNNB1/beta-catenin, APC and AXIN1. Requires primed phosphorylation of the majority of its substrates. Contributes to insulin regulation of glycogen synthesis by phosphorylating and inhibiting GYS1 activity and hence glycogen synthesis. Regulates glycogen metabolism in liver, but not in muscle. May also mediate the development of insulin resistance by regulating activation of transcription factors. In Wnt signaling, regulates the level and transcriptional activity of nuclear CTNNB1/beta-catenin. Facilitates amyloid precursor protein (APP) processing and the generation of APP-derived amyloid plaques found in Alzheimer disease. May be involved in the regulation of replication in pancreatic beta-cells. Is necessary for the establishment of neuronal polarity and axon outgrowth. Through phosphorylation of the anti-apoptotic protein MCL1, may control cell apoptosis in response to growth factors deprivation.
UOM:  1 * 100 µl
Numéro de catalogue: (BOSSBS-13478R-A488)

Fournisseur:  Bioss
Description:   Human reproduction is controlled by the hypothalaic-pituitary gonadal axis laid down early in fetal development. Gonadotropin releasing hormone (GnRH), also known as GnRH-associated peptide, luteinizing hormone releasing hormone (LHRH), luliberin or gonadorelin, is a decapeptide that is an important molecule in the hypothalamic-pituitary-gonadal axis control circuit. GnRH is produced by hypothalamic neurons and secreted in a pulsatile manner into the capillary plexus of the medianeminence. GnRH affects the release of lutenizing hormone and follicle stimulating hormone from gonadotropic cells in the anterior pituitary. In addition to hypothalamic GnRH (GnRH I), a second GnRH form (GnRH II) functions primarily in the midbrain. GnRH is expressed in the acrosomal region of human sperm and in the anterior pituitary tissue and cancer cells. Unlike GnRH I, GnRH II is highly expressed outside the brain, particularly in the kidney, bone marrow and prostate, suggesting that it may have multiple functions. GnRH binds to a specific G protein-coupled receptor in the pituitary to regulate synthesis and secretion of gonadotropins.
UOM:  1 * 100 µl
Numéro de catalogue: (BOSSBS-11477R-A750)

Fournisseur:  Bioss
Description:   Semaphorins are a family of cell surface and secreted proteins that are conserved from insects to humans. Members of this family of proteins are approximately 750 amino acids in length (including signal sequences) and are defined by a conserved extracellular semaphorin domain of approximately 500 amino acids containing 14-16 cysteines, blocks of conserved sequences and no obvious repeats. The transmembrane semaphorins are characterised by an additional 80 amino acid transmembrane domain and an 80-110 amino acid cytoplasmic domain. Secreted and cell-bound semaphorins chemically attract and repel the growth of neural axons, guiding the development of intricate networks of neural tissue. SEMA4B (semaphorin-4B), also known as SemC or SEMAC, is an 832 amino acid single-pass type I membrane protein that belongs to the semaphorin family and exists as two alternatively spliced isoforms. Containing one Ig-like C2-type (immunoglobulin-like) domain, a PSI domain and a single sema domain, SEMA4B is encoded by a gene located on human chromosome 15.
UOM:  1 * 100 µl
Numéro de catalogue: (BOSSBS-11698R-CY3)

Fournisseur:  Bioss
Description:   Huntingtin yeast partner E is a 458 amino acid single-pass membrane protein. HYPE is thought to interact with Huntingtin, a protein which induces neurodegeneration when mutated. HYPE also contains two tetratricopeptide repeats (TPR), which may be involved in protein-protein interaction. The gene that encodes HYPE is located on chromosome 12, which encodes over 1,100 genes within 132 million bases and makes up about 4.5% of the human genome. A number of skeletal deformities are linked to chromosome 12 including hypochondrogenesis, achondrogenesis and Kniest dysplasia. Chromosome 12 is also home to a homeobox gene cluster which encodes crucial transcription factors for morphogenesis, and the natural killer complex gene cluster encoding C-type lectin proteins which mediate the NK cell response to MHC I interaction. Trisomy 12p leads to facial development defects, seizure disorders and a host of other symptoms varying in severity depending on the extent of mosaicism and is most severe in cases of complete trisomy.
UOM:  1 * 100 µl
Numéro de catalogue: (BOSSBS-3116R-CY5.5)

Fournisseur:  Bioss
Description:   Disabled 1 (Dab1) is an 80 kDa protein that is encoded by the Disabled-1 gene locus which is mutated in scrambler and yotari mutant mice. Phenotypically, the mutation of this gene produces motor defects and ataxia, disruption of neuronal migration, and severe cerebellar hypoplasia. Dab1 is an intracellular adapter protein that functions in downstream signaling events initiated by the secreted protein reelin. Dab1 contains a phosphotyrosine binding (PTB) domain in the amino terminus. Tyrosine phosphorylation of Dab1 is increased by reelin binding to the Very Low Density Lipoprotein Receptor (VLDLR) and Apolipoprotein E Receptor 2 (ApoER2) through stimulation of Src family kinases. Src family kinase and c-Abl activities are themselves then stimulated by binding to tyrosine phosphorylated Dab1. Dab1 also mediates activation of Akt (PKB) by reelin resulting in inhibition of glycogen synthase kinase 3 beta (GSK-3 beta) and decreased phosphorylation of the microtubule-associated protein, Tau. Dab1 serine 491 is phosphorylated in a Cdk5-dependent manner and regulates, likely indirectly, Reelin-induced signaling during neural cortex development.
UOM:  1 * 100 µl
Numéro de catalogue: (BOSSBS-3116R-CY7)

Fournisseur:  Bioss
Description:   Disabled 1 (Dab1) is an 80 kDa protein that is encoded by the Disabled-1 gene locus which is mutated in scrambler and yotari mutant mice. Phenotypically, the mutation of this gene produces motor defects and ataxia, disruption of neuronal migration, and severe cerebellar hypoplasia. Dab1 is an intracellular adapter protein that functions in downstream signaling events initiated by the secreted protein reelin. Dab1 contains a phosphotyrosine binding (PTB) domain in the amino terminus. Tyrosine phosphorylation of Dab1 is increased by reelin binding to the Very Low Density Lipoprotein Receptor (VLDLR) and Apolipoprotein E Receptor 2 (ApoER2) through stimulation of Src family kinases. Src family kinase and c-Abl activities are themselves then stimulated by binding to tyrosine phosphorylated Dab1. Dab1 also mediates activation of Akt (PKB) by reelin resulting in inhibition of glycogen synthase kinase 3 beta (GSK-3 beta) and decreased phosphorylation of the microtubule-associated protein, Tau. Dab1 serine 491 is phosphorylated in a Cdk5-dependent manner and regulates, likely indirectly, Reelin-induced signaling during neural cortex development.
UOM:  1 * 100 µl
Numéro de catalogue: (BOSSBS-11330R-A488)

Fournisseur:  Bioss
Description:   There are three sorCS genes that have diverse, partially overlapping functions in the central nervous system. In the developing and mature central nervous system, the homologous SorCS1 and SorCS2 genes and the SorCS3 gene are expressed in a combinatorial, non-overlapping pattern. SorCS proteins show homology to the mosaic receptor SorLA and the neurotensin receptor sortilin, based on a common VPS10 domain, which is the hallmark of the SorCS receptor family. SorCS1 is a type 1 receptor containing a VPS10P domain and a leucine-rich domain. Alternative splicing of human SorCS1 results in four isoforms with different cytoplasmic tails and differential expression in tissues. Human SorCS1 is detected in fetal and infant brain and in fetal retina. Alternative splicing of murine SorCS1 also results in four isoforms. Murine isoform 1 is highly expressed in brain and at lower levels in heart, liver and kidney. It is detected in newborn mouse brain and in adult olfactory bulb and cerebral cortex. Murine isoform 2 is highly expressed in liver and at lower levels in heart, brain, kidney and testis.
UOM:  1 * 100 µl
Numéro de catalogue: (BOSSBS-11330R-A555)

Fournisseur:  Bioss
Description:   There are three sorCS genes that have diverse, partially overlapping functions in the central nervous system. In the developing and mature central nervous system, the homologous SorCS1 and SorCS2 genes and the SorCS3 gene are expressed in a combinatorial, non-overlapping pattern. SorCS proteins show homology to the mosaic receptor SorLA and the neurotensin receptor sortilin, based on a common VPS10 domain, which is the hallmark of the SorCS receptor family. SorCS1 is a type 1 receptor containing a VPS10P domain and a leucine-rich domain. Alternative splicing of human SorCS1 results in four isoforms with different cytoplasmic tails and differential expression in tissues. Human SorCS1 is detected in fetal and infant brain and in fetal retina. Alternative splicing of murine SorCS1 also results in four isoforms. Murine isoform 1 is highly expressed in brain and at lower levels in heart, liver and kidney. It is detected in newborn mouse brain and in adult olfactory bulb and cerebral cortex. Murine isoform 2 is highly expressed in liver and at lower levels in heart, brain, kidney and testis.
UOM:  1 * 100 µl
Numéro de catalogue: (BOSSBS-11330R-A680)

Fournisseur:  Bioss
Description:   There are three sorCS genes that have diverse, partially overlapping functions in the central nervous system. In the developing and mature central nervous system, the homologous SorCS1 and SorCS2 genes and the SorCS3 gene are expressed in a combinatorial, non-overlapping pattern. SorCS proteins show homology to the mosaic receptor SorLA and the neurotensin receptor sortilin, based on a common VPS10 domain, which is the hallmark of the SorCS receptor family. SorCS1 is a type 1 receptor containing a VPS10P domain and a leucine-rich domain. Alternative splicing of human SorCS1 results in four isoforms with different cytoplasmic tails and differential expression in tissues. Human SorCS1 is detected in fetal and infant brain and in fetal retina. Alternative splicing of murine SorCS1 also results in four isoforms. Murine isoform 1 is highly expressed in brain and at lower levels in heart, liver and kidney. It is detected in newborn mouse brain and in adult olfactory bulb and cerebral cortex. Murine isoform 2 is highly expressed in liver and at lower levels in heart, brain, kidney and testis.
UOM:  1 * 100 µl
Numéro de catalogue: (BOSSBS-2700R-A555)

Fournisseur:  Bioss
Description:   Cytokeratin 10 is a heterotetramer of two type I and two type II keratins. Cytokeratin 10 is generally associated with keratin 1. It is seen in all suprabasal cell layers including stratum corneum. A number of alleles are known that mainly differ in the Gly-rich region (positions 490-560). Defects in cytokeratin 10 are a cause of epidermolytic hyperkeratosis (EHK), also known as bullous congenital ichthyosiform erythroderma (BCIE) or bullous erythroderma ichthyosiformis congenita of Brocq. EHK is an hereditary skin disorder characterized by blistering and a marked thickening of the stratum corneum. At birth, affected individuals usually present with redness, blisters and superficial erosions due to cytolysis. Within a few weeks, the erythroderma and blister formation diminish and hyperkeratoses develop. Transmission is autosomal dominant, but most cases are sporadic. Defects in cytokeratin 10 are also a cause of annular epidermolytic ichthyosis (AEI), also known as cyclic ichthyosis with epidermolytic hyperkeratosis. AEI resembles clinical and histologic features of both epidermolytic hyperkeratosis and ichthyosis bullosa of Siemens.
UOM:  1 * 100 µl
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