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Bioss
Numéro de catalogue:
(BOSSBS-11030R-A350)
Fournisseur:
Bioss
Description:
Retinitis pigmentosa 1 is a novel 2,156 amino acid oxygen-regulated photoreceptor specific to retina. Originally named ORP1 (for 'oxygen-regulated protein-1'), the expression of retinitis pigmentosa 1 has been found to be regulated by oxygen levels in the retina. Mutation of the retinitis pigmentosa 1 gene causes dominant retinitis pigmentosa which leads to degeneration of retinal photoreceptor cells and symptoms such as night vision blindness and deficits in the midperipheral visual field. Retinitis pigmentosa 1 may assist in differentiation of photoreceptor cells and has been identified in the cilia of photoreceptors, possibly aiding in both cilial structure and protein transport between inner and outer segments of photoreceptors. Retinitis pigmentosa 1 contains two doublecortin domains and is encoded by a gene which maps to human chromosome 8q11-q13.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-7013R-CY5.5)
Fournisseur:
Bioss
Description:
The product of this gene belongs to the family of highly homologous synovial sarcoma X (SSX) breakpoint proteins. These proteins may function as transcriptional repressors. They are also capable of eliciting spontaneously humoral and cellular immune responses in cancer patients, and are potentially useful targets in cancer vaccine-based immunotherapy. SSX1, SSX2 and SSX4 genes have been involved in the t(X;18) translocation characteristically found in all synovial sarcomas. This gene appears not to be involved in this type of chromosome translocation. Two transcript variants encoding distinct isoforms have been identified for this gene.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-1102R-CY3)
Fournisseur:
Bioss
Description:
Transcription factor required for normal development of thymus, parathyroid glands, ultimobranchial bodies, teeth, skeletal elements of skull and larynx as well as distal limbs.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-15178R-A350)
Fournisseur:
Bioss
Description:
Chromosome 3 is made up of about 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. The C3orf55 gene product has been provisionally designated C3orf55 pending further characterization.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-11834R-CY3)
Fournisseur:
Bioss
Description:
Dyrk (for dual specificity tyrosine phosphorylation regulated kinase) is the homolog of the Drosophila mnb (minibrain) gene which is required for neurogenesis. Dyrk is a dual-specificity tyrosine kinase and serine/threonine kinase, which is itself regulated by tyrosine phosphorylation. Several mammalian Dyrk related proteins have been identified and are thought to compose a family of dual specificity protein kinases. Dyrk family members, including Dyrk1A (dual specificity tyrosine-phosphorylation-regulated kinase 1A), Dyrk1B, Dyrk1C, Dyrk2, Dyrk3, Dyrk4A and Dyrk4B, are thought to be involved in diverse cellular functions. Localized to the nucleus and highly expressed in testis, muscle and the developing nervous system, Dyrk1A, also known as MNB or MNBH, functions to phosphorylate serine, threonine and tyrosine residues on various substrates involved in signaling pathways that regulate cell proliferation. Dyrk1A is a candidate gene for learning defects that are involved in Downs syndrome (DS), suggesting a possible role for Dyrk1A in the development of DS. Four isoforms of Dyrk1A exist due to alternative splicing events.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-11834R-A555)
Fournisseur:
Bioss
Description:
Dyrk (for dual specificity tyrosine phosphorylation regulated kinase) is the homolog of the Drosophila mnb (minibrain) gene which is required for neurogenesis. Dyrk is a dual-specificity tyrosine kinase and serine/threonine kinase, which is itself regulated by tyrosine phosphorylation. Several mammalian Dyrk related proteins have been identified and are thought to compose a family of dual specificity protein kinases. Dyrk family members, including Dyrk1A (dual specificity tyrosine-phosphorylation-regulated kinase 1A), Dyrk1B, Dyrk1C, Dyrk2, Dyrk3, Dyrk4A and Dyrk4B, are thought to be involved in diverse cellular functions. Localized to the nucleus and highly expressed in testis, muscle and the developing nervous system, Dyrk1A, also known as MNB or MNBH, functions to phosphorylate serine, threonine and tyrosine residues on various substrates involved in signaling pathways that regulate cell proliferation. Dyrk1A is a candidate gene for learning defects that are involved in Downs syndrome (DS), suggesting a possible role for Dyrk1A in the development of DS. Four isoforms of Dyrk1A exist due to alternative splicing events.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-3203R-A350)
Fournisseur:
Bioss
Description:
Insulin receptor substrates (IRS) are responsible for several insulin related activities, such as glucose homeostasis, cell growth, cell transformation, apoptosis and insulin signal transduction. Serine/threonine phosphorylation of IRS1 has been demonstrated to be a negative regulator of insulin signaling and is responsible for its degradation, although IRS1 degradation pathways are not well understood. IRS1 has also been shown to be constitutively activated in cancers such as breast cancer, Wilm's tumors, and adrenal cortical carcinomas, thus making IRS1 phosphorylation and subsequent degradation an attractive therapeutic target. To date there have been four subtypes identified: IRS1, 2, 3 and 4, with IRS1 being widely expressed.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-3202R-CY3)
Fournisseur:
Bioss
Description:
Insulin receptor substrates (IRS) are responsible for several insulin related activities, such as glucose homeostasis, cell growth, cell transformation, apoptosis and insulin signal transduction. Serine/threonine phosphorylation of IRS1 has been demonstrated to be a negative regulator of insulin signaling and is responsible for its degradation, although IRS1 degradation pathways are not well understood. IRS1 has also been shown to be constitutively activated in cancers such as breast cancer, Wilm's tumors, and adrenal cortical carcinomas, thus making IRS1 phosphorylation and subsequent degradation an attractive therapeutic target. To date there have been four subtypes identified: IRS1, 2, 3 and 4, with IRS1 being widely expressed.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-2443R-A750)
Fournisseur:
Bioss
Description:
This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and hydroxylates steroids at the 21 position. Its activity is required for the synthesis of steroid hormones including cortisol and aldosterone. Mutations in this gene cause congenital adrenal hyperplasia. A related pseudogene is located near this gene; gene conversion events involving the functional gene and the pseudogene are thought to account for many cases of steroid 21-hydroxylase deficiency. Two transcript variants encoding different isoforms have been found for this gene.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-7913R-A680)
Fournisseur:
Bioss
Description:
Negative regulator of YAP1 in the Hippo signaling pathway that plays a pivotal role in organ sise control and tumor suppression by restricting proliferation and promoting apoptosis. The core of this pathway is composed of a kinase cascade wherein STK3/MST2 and STK4/MST1, in complex with its regulatory protein SAV1, phosphorylates and activates LATS1/2 in complex with its regulatory protein MOB1, which in turn phosphorylates and inactivates YAP1 oncoprotein and WWTR1/TAZ. Phosphorylation of YAP1 by LATS1 inhibits its translocation into the nucleus to regulate cellular genes important for cell proliferation, cell death, and cell migration. Acts as a tumor suppressor which plays a critical role in maintenance of ploidy through its actions in both mitotic progression and the G1 tetraploidy checkpoint. Negatively regulates G2/M transition by down-regulating CDK1 kinase activity. Involved in the control of p53 expression. Affects cytokinesis by regulating actin polymerisation through negative modulation of LIMK1. May also play a role in endocrine function.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-15436R-HRP)
Fournisseur:
Bioss
Description:
HEAB is a 425 amino acid nuclear protein that belongs to the Clp1 family. Utilising magnesium, manganese or nickel as cofactors, HEAB participates in the phosphorylation of the 5'-hydroxyl groups of double- and single- stranded RNA and DNA. HEAB is a member of the tRNA splicing endonuclease complex, in conjunction with TSEN2, TSEN15, TSEN34 and TSEN54, and is also a member of the pre-mRNA cleavage complex II. The gene encoding HEAB maps to human chromosome 11q12.1 and mouse chromosome 2 D; mutations to this gene may lead to a reduced pre-mRNA cleavage activity. HEAB exists as two isoforms due to alternative splicing events.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-8124R-A647)
Fournisseur:
Bioss
Description:
This gene encodes a protein containing a coiled-coil domain. The mouse orthologous protein has been shown to bind copines, which are calcium-dependent, membrane-binding proteins that may function in calcium signaling. Localization of the orthologous rat protein suggests that it may play a role in neuronal injury response. This human gene has been identified as a novel candidate gene for syndromic X-linked intellectual disability. [provided by RefSeq, Aug 2011].
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-3724R-A750)
Fournisseur:
Bioss
Description:
This gene encodes one of three opioid receptors. The mu opioid receptor is the principal target of endogenous opioid peptides and opioid analgesic agents such a s beta-endorphn and enkephalins. The NM_001008503.1:c.118A>G allele had been associated with opioid and alcohol addiction and variations in pain sensitivity but evidence is conflicting. Multiple transcript variants encoding different isoforms have been found for this gene.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-8124R-CY5)
Fournisseur:
Bioss
Description:
This gene encodes a protein containing a coiled-coil domain. The mouse orthologous protein has been shown to bind copines, which are calcium-dependent, membrane-binding proteins that may function in calcium signaling. Localization of the orthologous rat protein suggests that it may play a role in neuronal injury response. This human gene has been identified as a novel candidate gene for syndromic X-linked intellectual disability. [provided by RefSeq, Aug 2011].
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-6016R-A647)
Fournisseur:
Bioss
Description:
In embryonic stem (ES) cells, plays a crucial role in the differentiation potential, particularly along the neural lineage, regulating gene induction and H3 'Lys-4' methylation at key developmental loci, including that mediated by retinoic acid (By similarity). As part of the MLL1/MLL complex, involved in mono-, di- and trimethylation at 'Lys-4' of histone H3. Histone H3 'Lys-4' methylation represents a specific tag for epigenetic transcriptional activation.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-6018R-CY7)
Fournisseur:
Bioss
Description:
Transmembrane serine/threonine kinase activin type-1 receptor forming an activin receptor complex with activin receptor type-2 (ACVR2A or ACVR2B). Transduces the activin signal from the cell surface to the cytoplasm and is thus regulating a many physiological and pathological processes including neuronal differentiation and neuronal survival, hair follicle development and cycling, FSH production by the pituitary gland, wound healing, extracellular matrix production, immunosuppression and carcinogenesis. Activin is also thought to have a paracrine or autocrine role in follicular development in the ovary. Within the receptor complex, type-2 receptors (ACVR2A and/or ACVR2B) act as a primary activin receptors whereas the type-1 receptors like ACVR1B act as downstream transducers of activin signals. Activin binds to type-2 receptor at the plasma membrane and activates its serine-threonine kinase. The activated receptor type-2 then phosphorylates and activates the type-1 receptor such as ACVR1B. Once activated, the type-1 receptor binds and phosphorylates the SMAD proteins SMAD2 and SMAD3, on serine residues of the C-terminal tail. Soon after their association with the activin receptor and subsequent phosphorylation, SMAD2 and SMAD3 are released into the cytoplasm where they interact with the common partner SMAD4. This SMAD complex translocates into the nucleus where it mediates activin-induced transcription. Inhibitory SMAD7, which is recruited to ACVR1B through FKBP1A, can prevent the association of SMAD2 and SMAD3 with the activin receptor complex, thereby blocking the activin signal. Activin signal transduction is also antagonized by the binding to the receptor of inhibin-B via the IGSF1 inhibin coreceptor. ACVR1B also phosphorylates TDP2.
UOM:
1 * 100 µl
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