2-Fluor-4-methylphenylborons\u00E4ure
Artikel-Nr:
(BOSSBS-7084R-A680)
Lieferant:
Bioss
Hersteller-Artikelnummer::
BS-7084R-A680
Lokale Artikelnummer::
BOSSBS-7084R-A680
Beschreibung:
Defects in NOD2 are the cause of sarcoidosis early-onset (EOS) . EOS is a form of sarcoidosis manifesting in children younger than 4 years of age. Sarcoidosis is an idiopathic, systemic, inflammatory disease characterised by the formation of immune granulomas in involved organs. Granulomas predominantly invade the lungs and the lymphatic system, but also skin, liver, spleen, eyes and other organs may be involved. Early-onset sarcoidosis is quite rare and has a distinct triad of skin, joint and eye disorders, without apparent pulmonary involvement. Compared with an asymptomatic and sometimes naturally disappearing course of the disease in older children, early-onset sarcoidosis is progressive and in many cases causes severe complications, such as blindness, joint destruction and visceral involvement.
VE:
1 * 100 µl
Artikel-Nr:
(BOSSBS-15131R-A555)
Lieferant:
Bioss
Hersteller-Artikelnummer::
BS-15131R-A555
Lokale Artikelnummer::
BOSSBS-15131R-A555
Beschreibung:
Chromosome 22 contains over 500 genes and about 49 million bases. Being the second smallest human chromosome, 22 contains a surprising variety of interesting genes. Phelan-McDermid syndrome, Neurofibromatosis type 2 and autism are associated with chromosome 22. A schizophrenia susceptibility locus has been identified on chromosome 22 and studies show that 22q11 deletion symptoms include a high incidence of schizophrenia. Translocations between chromosomes 9 and 22 may lead to the formation of the Philadelphia Chromosome and the subsequent production of the novel fusion protein, BCR-Abl, a potent cell proliferation activator found in several types of leukemia. The C22orf13 gene product has been provisionally designated C22orf13 pending further characterization.
VE:
1 * 100 µl
Artikel-Nr:
(BOSSBS-9127R-A488)
Lieferant:
Bioss
Hersteller-Artikelnummer::
BS-9127R-A488
Lokale Artikelnummer::
BOSSBS-9127R-A488
Beschreibung:
Component of a probable SCF-like E3 ubiquitin-protein ligase complex, which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Probably plays a role in the degradation of proteins involved in endothelial proliferation and/or differentiation (By similarity). Seems not to promote polyubiquitination and proteasomal degradation of TP53. In vitro, complexes of CUL7 with either CUL9 or FBXW8 or TP53 contain E3 ubiquitin-protein ligase activity.Involvement in disease: Defects in CUL7 are the cause of 3M syndrome type 1 (3M1). An autosomal recessive disorder characterized by severe pre- and postnatal growth retardation, facial dysmorphism, large head circumference, and normal intelligence and endocrine function. Skeletal changes include long slender tubular bones and tall vertebral bodies.
VE:
1 * 100 µl
Artikel-Nr:
(BOSSBS-9705R-A680)
Lieferant:
Bioss
Hersteller-Artikelnummer::
BS-9705R-A680
Lokale Artikelnummer::
BOSSBS-9705R-A680
Beschreibung:
The type II integral membrane (ITM2) protein family consists of three members ITM2A (also designated E25), ITM2B and ITM2C. ITM2A expression is high in osteogenic and lymphoid tissues, while both ITM2B and ITM2C are expressed in brain. Mutations in the ITM2B gene can lead to familial British dementia (fbd), and autosomal dominant disease characterised by progressive dementia, spasticity, and cerebellar ataxia, or familial Danish dementia (fdd), an autosomal dominant disorder characterised by cataracts, deafness, progressive ataxia, and dementia. The ITM2A 263-amino acid protein contains an N-terminal cytosolic domain, an uncleaved signal anchor sequence, and a tyrosine-rich C-terminal domain. Human ITM2A shares 91% homology with mouse ITM2A.
VE:
1 * 100 µl
Artikel-Nr:
(BOSSBS-1763R-A647)
Lieferant:
Bioss
Hersteller-Artikelnummer::
BS-1763R-A647
Lokale Artikelnummer::
BOSSBS-1763R-A647
Beschreibung:
Receptor tyrosine kinase which binds promiscuously membrane-bound ephrin-A family ligands residing on adjacent cells, leading to contact-dependent bidirectional signaling into neighboring cells. The signaling pathway downstream of the receptor is referred to as forward signaling while the signaling pathway downstream of the ephrin ligand is referred to as reverse signaling. Binds with a low affinity EFNA3 and EFNA4 and with a high affinity to EFNA1 which most probably constitutes its cognate/functional ligand. Upon activation by EFNA1 induces cell attachment to the extracellular matrix inhibiting cell spreading and motility through regulation of ILK and downstream RHOA and RAC. Plays also a role in angiogenesis and regulates cell proliferation. May play a role in apoptosis.
VE:
1 * 100 µl
Artikel-Nr:
(BOSSBS-12125R-A647)
Lieferant:
Bioss
Hersteller-Artikelnummer::
BS-12125R-A647
Lokale Artikelnummer::
BOSSBS-12125R-A647
Beschreibung:
The sodium-coupled neutral amino acid transporters (SNAT) of the SLC38 gene family include System A subtypes SNAT1, SNAT2 and SNAT4 and System N subtypes SNAT3 and SNAT5. The SLC38 transporters are essential for the uptake of nutrients, energy production, metabolism, detoxification, and the cycling of neurotransmitters. SNAT2, also designated ATA2, PRO1068 and SAT2 is encoded by the human gene SLC38A2. The functional role of SNAT2 in the nervous system is unclear. Protein expression is notably enriched in the spinal cord and brain stem nuclei of the auditory system. System A transport proteins are also present in placental tissue. These SNAT proteins may play a significant role in fetal development and inhibition of the transport system has been associated with fetal growth retardation.
VE:
1 * 100 µl
Artikel-Nr:
(BOSSBS-9264R-A350)
Lieferant:
Bioss
Hersteller-Artikelnummer::
BS-9264R-A350
Lokale Artikelnummer::
BOSSBS-9264R-A350
Beschreibung:
The RING-type zinc finger motif is present in a number of viral and eukaryotic proteins and is made of a conserved cysteine-rich domain that is able to bind two zinc atoms. Proteins that contain this conserved domain are generally involved in the ubiquitination pathway of protein degradation. RNF215 (ring finger protein 215), is a 377 amino acid multi-pass membrane protein containing one RING-type zinc finger. The gene encoding RNF215 maps to human chromosome 22, which houses over 500 genes and is the second smallest human chromosome. Mutations in several of the genes that map to chromosome 22 are involved in the development of Phelan-McDermid syndrome, Neurofibromatosis type 2, autism and schizophrenia.
VE:
1 * 100 µl
Artikel-Nr:
(BOSSBS-13695R-A488)
Lieferant:
Bioss
Hersteller-Artikelnummer::
BS-13695R-A488
Lokale Artikelnummer::
BOSSBS-13695R-A488
Beschreibung:
The Src family of protein tyrosine kinases (Src-PTKs) is important in the regulation of growth and differentiation of eukaryotic cells. The activity of Src-PTKs in cells of different types is negatively controlled by Csk. Csk binding protein (Cbp), also designated phosphoprotein associated with glycosphingo-lipid-enriched microdomains (GEMs) or PAG, is a ubiquitously expressed transmembrane phosphoprotein that binds specifically to the SH2 domain of Csk. Cbp is involved in the membrane localization of Csk and in Csk-mediated inhibition of c-Src. In the plasma membrane, Cbp is exclusively localized in the GM1 ganglioside-enriched detergent-insoluble membrane domain, which is important in receptor-mediated signaling. Cbp is a component of the regulatory mechanism controlling the activity of membrane-associated Src-PTKs.
VE:
1 * 100 µl
Artikel-Nr:
(BOSSBS-12172R-A488)
Lieferant:
Bioss
Hersteller-Artikelnummer::
BS-12172R-A488
Lokale Artikelnummer::
BOSSBS-12172R-A488
Beschreibung:
Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, isk-related subfamily. This member is a type I membrane protein, and a beta subunit that assembles with a potassium channel alpha-subunit to modulate the gating kinetics and enhance stability of the multimeric complex. This gene is prominently expressed in the embryo and in adult uterus. [provided by RefSeq, Jul 2008].
VE:
1 * 100 µl
Artikel-Nr:
(BOSSBS-2389R-A647)
Lieferant:
Bioss
Hersteller-Artikelnummer::
BS-2389R-A647
Lokale Artikelnummer::
BOSSBS-2389R-A647
Beschreibung:
Component of the epithelial apical junction complex that may function as an homophilic cell adhesion molecule and is essential for tight junction integrity. Also involved in transepithelial migration of leukocytes through adhesive interactions with AMICA1/JAML a transmembrane protein of the plasma membrane of leukocytes. The interaction between both receptors also mediates the activation of gamma-delta T-cells, a subpopulation of T-cells residing in epithelia and involved in tissue homeostasis and repair. Upon epithelial CXADR-binding, AMICA1 induces downstream cell signaling events in gamma-delta T-cells through PI3-kinase and MAP kinases. It results in proliferation and production of cytokines and growth factors by T-cells that in turn stimulate epithelial tissues repair.
VE:
1 * 100 µl
Artikel-Nr:
(BOSSBS-13482R-A647)
Lieferant:
Bioss
Hersteller-Artikelnummer::
BS-13482R-A647
Lokale Artikelnummer::
BOSSBS-13482R-A647
Beschreibung:
The Golgi apparatus, which participates in glycosylation and transport of proteins and lipids in the secretory pathway, consists of a series of stacked cisternae (flattened membrane sacs). Interactions between the Golgi and microtubules are thought to be important for the reorganization of the Golgi after it fragments during mitosis. The protein encoded by this gene is a member of the golgin family of proteins, whose members localize to the Golgi. This gene is found in a large, low copy repeat sequence or duplicon that is found in multiple copies, that are greather than 90% similar, on chromosome 15. Duplicons are associated with deletions, inversions and other chromosome rearrangements that underlie genomic disease. The protein encoded by this gene is thought to be a functional golgin protein while the majority of the related copies of this gene are thought to be transcribed pseudogenes.
VE:
1 * 100 µl
Artikel-Nr:
(BOSSBS-12415R-A680)
Lieferant:
Bioss
Hersteller-Artikelnummer::
BS-12415R-A680
Lokale Artikelnummer::
BOSSBS-12415R-A680
Beschreibung:
Members of the transforming growth factor b superfamily bind to a pair of transmembrane proteins, known as receptor types I and II, which contain serine/threonine kinases and associate to form a Signalling complex. Activin has been shown to bind a heteromeric noncovalent complex, which consists of a type I receptor, ACTR-IA (also designated ACVRI and ALK-2) or ACTR-IB (also designated ALK-4 and SKR2), and a type II receptor, ACTR-IIA (also designated ACVR2A) or ACTR-IIB (also designated ACVR2B). Both receptor types are highly expressed in brain. The activin receptor family members are thought to mediate distinct effects on gene expression, cell differentiation, and morpho- genesis in a dose dependent fashion.
VE:
1 * 100 µl
Artikel-Nr:
(BOSSBS-12172R-A647)
Lieferant:
Bioss
Hersteller-Artikelnummer::
BS-12172R-A647
Lokale Artikelnummer::
BOSSBS-12172R-A647
Beschreibung:
Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, isk-related subfamily. This member is a type I membrane protein, and a beta subunit that assembles with a potassium channel alpha-subunit to modulate the gating kinetics and enhance stability of the multimeric complex. This gene is prominently expressed in the embryo and in adult uterus. [provided by RefSeq, Jul 2008].
VE:
1 * 100 µl
Artikel-Nr:
(BOSSBS-15106R-A350)
Lieferant:
Bioss
Hersteller-Artikelnummer::
BS-15106R-A350
Lokale Artikelnummer::
BOSSBS-15106R-A350
Beschreibung:
The gene encoding C20orf24 maps to human chromosome 20, which houses over 600 genes, some of which are associated with Creutzfeldt-Jakob disease, amyotrophic lateral sclerosis, spinal muscular atrophy, ring chromosome 20 epilepsy syndrome and Alagille syndrome. Additionally, chromosome 20 contains a region with numerous genes which are thought important for seminal production and may be potential targets for male contraception. The PRNP gene encoding the prion protein associated with spongiform encephalopathies, like Creutzfeldt-Jakob disease, is found on chromosome 20. The C20orf24 gene product, also desginated Rab5-interacting protein (RIP5), may be involved in the induction of both caspase-dependent apoptosis and caspase-independent cell death.
VE:
1 * 100 µl
Artikel-Nr:
(BOSSBS-13390R-A488)
Lieferant:
Bioss
Hersteller-Artikelnummer::
BS-13390R-A488
Lokale Artikelnummer::
BOSSBS-13390R-A488
Beschreibung:
GLUD2 is both mitochondrial matrix enzymes belonging to the Glu/Leu/Phe/Val dehydrogenases family. Exisiting as homohexamers, GLUD1 catalyzes the oxidative deamination of glutamate to ?ketoglutarate and ammonia while GLUD2 is involved in the recycling of glutamate during neurotransmission. GLUD1 is critical for regulating amino acid induced insulin secretion and is allosterically activated by ADP and inhibited by GTP and ATP. Mutations in the gene encoding GLUD1 causes hyperinsulinism-hyperammonemia syndrome (HHS), which is an inherited condition characterized by high insulin and ammonia levels in the blood. GLUD1 may also be involved in learning and memory reactions by increasing the turnover of the excitatory neurotransmitter glutamate. GLUD2 is expressed in testis and retina, with lower levels found in brain.
VE:
1 * 100 µl
Artikel-Nr:
(BOSSBS-8425R-A680)
Lieferant:
Bioss
Hersteller-Artikelnummer::
BS-8425R-A680
Lokale Artikelnummer::
BOSSBS-8425R-A680
Beschreibung:
Members of the bactericidal/permeability-increasing protein family have antimicrobial properties and bind lipophilic substances, therefore targeting gram-negative bacteria. The bactericidal permeability increasing protein (BPI) is an antibacterial and endotoxin-neutralising molecule that is abundant in the granules of polymorphonuclear leukocytes (neutrophil granules). Sharing structural and sequence homologies with BPI, BPIL3 (Bactericidal/permeability-increasing protein-like 3) is a 453 amino acid secreted protein that contains the family?s common conserved feature of two cysteine residues that are critical for protein function. While BPIL3 is primarily expressed at low levels in tonsils, it has been found to be upregulated in hypertrophic tonsil tissue, suggesting that it may play a role in the pathogenesis of inflamed disease tissue.
VE:
1 * 100 µl
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