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Ace+Method+Development+Kits
Numéro de catalogue:
(BOSSBS-11945R-A555)
Fournisseur:
Bioss
Description:
Encoding over 1,100 genes within 132 million bases, chromosome 12 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. Noonan syndrome, which includes heart and facial developmental defects among the primary symptoms, is caused by a mutant form of PTPN11 gene product, SH-PTP2. 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. The C12orf52 gene product has been provisionally designated C12orf52 pending further characterization.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-15297R-HRP)
Fournisseur:
Bioss
Description:
C8orf58 (chromosome 8 open reading frame 58) is a 365 amino acid protein that exists as two alternatively spliced isoforms, which are encoded by a gene that maps to human chromosome 8p21. Consisting of nearly 146 million bases, chromosome 8 encodes about 800 genes. Translocation of portions of chromosome 8 with amplifications of the c-Myc gene are found in some leukemias and lymphomas, and are typically associated with a poor prognosis. Portions of chromosome 8 have been linked to schizophrenia and bipolar disorder. Trisomy 8, also known as Warkany syndrome 2, most often results in early miscarriage but is occasionally seen in a mosaic form in surviving patients who suffer to a varying degree from a number of symptoms including retarded mental and motor development, and certain facial and developmental defects. WRN is a DNA helicase encoded by chromosome 8 and shown defective in those with the early aging disorder Werner syndrome. Chromosome 8 is also associated with Pfeiffer syndrome, congenital hypothyroidism and Waardenburg syndrome.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-11094R-A680)
Fournisseur:
Bioss
Description:
NCAM2 is an 837 amino acid protein encoded by the human gene NCAM2. NCAM2 contains five immunoglobulin-like domains, two Fibronectin type III domains, a transmembrane domain and a cytoplasmic domain. The gene is expressed most strongly in human adult and fetal brain. NCAM2 is a member of the neural cell adhesion molecule (NCAM) family. NCAMs are closely related cell surface glycoproteins involved in cell to cell interactions during growth and are thought to play an important role in embryogenesis and development. NCAM2 is a considered a good candidate for involvement in certain Down syndrome phenotypes because a slight overexpression of NCAMs increases many-fold the homotypic adhesion properties of cells. Stat5 regulates NCAM2 in vivo by binding to the NCAM2 intron in the NKL natural killer cell line; this binding is induced by cytokines that activate Stat5. Neither Stat1 nor Stat3 bind to this region, despite sharing a consensus binding sequence with Stat5.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-3047R-CY5.5)
Fournisseur:
Bioss
Description:
This gene encodes a receptor tyrosine kinase, which belongs to the insulin receptor superfamily. This protein comprises an extracellular domain, an hydrophobic stretch corresponding to a single pass transmembrane region, and an intracellular kinase domain. It plays an important role in the development of the brain and exerts its effects on specific neurons in the nervous system. This gene has been found to be rearranged, mutated, or amplified in a series of tumours including anaplastic large cell lymphomas, neuroblastoma, and non-small cell lung cancer. The chromosomal rearrangements are the most common genetic alterations in this gene, which result in creation of multiple fusion genes in tumourigenesis, including ALK (chromosome 2)/EML4 (chromosome 2), ALK/RANBP2 (chromosome 2), ALK/ATIC (chromosome 2), ALK/TFG (chromosome 3), ALK/NPM1 (chromosome 5), ALK/SQSTM1 (chromosome 5), LK/KIF5B (chromosome 10), ALK/CLTC (chromosome 17), ALK/TPM4 (chromosome 19), and ALK/MSN (chromosome X).[provided by RefSeq, Jan 2011].
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-11213R-A680)
Fournisseur:
Bioss
Description:
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. LRRTM1 (leucine rich repeat transmembrane neuronal 1) is a 522 amino acid single-pass type I membrane protein that localizes to the endoplasmic reticulum and contains ten LRR repeats. Expressed predominately in forebrain tissue, LRRTM1 is thought to be involved in the development of forebrain structures, specifically by influencing axon trafficking, as well as neuronal differentiation and connectivity. Human LRRTM1 shares 96% amino acid identity with its mouse counterpart, suggesting a conserved role between species. Defects in the gene encoding LRRTM1 may be associated with the pathogenesis of several common neurodevelopmental disorders.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-11213R-A750)
Fournisseur:
Bioss
Description:
The leucine-rich (LRR) repeat is a 20-30 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. LRRTM1 (leucine rich repeat transmembrane neuronal 1) is a 522 amino acid single-pass type I membrane protein that localises to the endoplasmic reticulum and contains ten LRR repeats. Expressed predominately in forebrain tissue, LRRTM1 is thought to be involved in the development of forebrain structures, specifically by influencing axon trafficking, as well as neuronal differentiation and connectivity. Human LRRTM1 shares 96% amino acid identity with its mouse counterpart, suggesting a conserved role between species. Defects in the gene encoding LRRTM1 may be associated with the pathogenesis of several common neurodevelopmental disorders.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-9611R-A555)
Fournisseur:
Bioss
Description:
CLLD6, is a 196 amino acid protein that contains one B30.2/SPRY domain. Expression of CLLD6 is found at highest levels in heart, skeletal muscle and testis, with lower levels found in thymus, peripheral blood leukocytes, lymph node and bone marrow. Existing as two alternatively spliced isoforms, CLLD6 maps to human chromosome 13, which comprises nearly 4% of human DNA and contains about 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.
UOM:
1 * 100 µl
Fournisseur:
Biotium
Description:
Recognizes a 47-55 kDa-tumor suppressor protein, identified as Wilm's Tumor (WT1) protein. The antibody reacts with all isoforms of the full-length WT1 and also identifies WT1 lacking exon 2-encoded amino acids, frequently found in subsets of sporadic Wilm s tumors.WT1, a sporadic and familial pediatric kidney tumor, is genetically heterogeneous. Wilm s tumor is associated with mutations of WT1, a zinc-finger transcription factor that is essential for the development of the metanephric kidney and the urogenital system. The WT1 gene is normally expressed in fetal kidney and mesothelium, and its expression has been suggested as a marker for Wilm s tumor and mesothelioma. WT1 protein has been identified in proliferative mesothelial cells, malignant mesothelioma, ovarian carcinoma, gonadoblastoma, nephroblastoma, and desmoplastic small round cell tumor. Lung adenocarcinomas rarely stain positive with this antibody. WT1 protein expression in mesothelial cells has become a reliable marker for the diagnosis of mesotheliomas.
Numéro de catalogue:
(BOSSBS-9611R-A350)
Fournisseur:
Bioss
Description:
CLLD6, is a 196 amino acid protein that contains one B30.2/SPRY domain. Expression of CLLD6 is found at highest levels in heart, skeletal muscle and testis, with lower levels found in thymus, peripheral blood leukocytes, lymph node and bone marrow. Existing as two alternatively spliced isoforms, CLLD6 maps to human chromosome 13, which comprises nearly 4% of human DNA and contains about 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.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-13587R-A647)
Fournisseur:
Bioss
Description:
Nolz 1 is a 646 amino acid nuclear protein that is thought to function as a transcriptional repressor and is highly expressed in developing striatum. Additionally, Nolz-1 has been suggested to play a role in neural differentiation. A member of the Elbow/Noc family, Nolz-1 exists as three alternatively spliced isoforms and contains one C2H2-type zinc finger. The gene encoding Nolz-1 maps to human chromosome 10, which makes up approximately 4.5% of total DNA in cells and encodes nearly 1,200 genes. Several protein-coding genes, including those that encode for chemokines, cadherins, excision repair proteins, early growth response factors (Egrs) and fibroblast growth receptors (FGFRs), are located on chromosome 10. Defects in some of the genes that map to chromosome 10 are associated with Charcot-Marie Tooth disease, Jackson-Weiss syndrome, Usher syndrome, nonsyndromatic deafness, Wolman’s syndrome, Cowden syndrome, multiple endocrine neoplasia type 2 and porphyria.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-13112R-A750)
Fournisseur:
Bioss
Description:
Ethanolamine kinase 2, also known as EKI2, ETNK2 or HMFT1716, is a 386 amino acid protein that belongs to the choline/ethanolamine kinase family. Via the cytidine diphosphate (CDP) ethanolamine pathway, Ethanolamine kinase 2 catalyses the initial step of phosphatidylethanolamine (PtdEtn) biosynthesis. Ethanolamine kinase 2 is expressed in kidney, liver, testis, ovary and prostate, and is highly specific for ethanolamine phosphorylation. Upregulated during testis development, Ethanolamine kinase 2 may play an essential role in regulating placental hemostasis. Existing as three alternatively spliced isoforms, the gene encoding Ethanolamine kinase 2 maps to human and mouse chromosome 1. Human chromosome 1 spans 260 million base pairs, contains over 3,000 genes, comprises nearly 8% of the human genome and houses a large number of disease-associated genes, including those that are involved in familial adenomatous polyposis, Stickler syndrome, Parkinson?s disease, Gaucher disease, schizophrenia and Usher syndrome.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-13053R-A647)
Fournisseur:
Bioss
Description:
The transcriptional repressing Polycomb-group (PcG) and transcriptional activating trithorax-group (trxG) genes of Drosophila are part of a cellular memory system responsible for the stable inheritance of gene activity. PcG proteins assemble into multimeric protein complexes, which are involved in maintaining the transcriptional repressive state of genes over successive cell generations. EED (embryonic ectoderm development) is the human homolog of Eed, a murine PcG gene homologous to the Drosophila homeotic gene, extra sex combs. The human EED protein is 99. 5% identical to the mouse EED protein and contains seven WD repeats, which are involved in protein-protein interactions. There are two human EED transcripts that contain a putative 407-nucleotide-long intron and give rise to two HEED protein isoforms, 535 and 494 amino acids in length. EED interacts in a highly specific manner, both in vitro and in vivo, with histone deacetylase (HDAC) proteins.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-13053R-HRP)
Fournisseur:
Bioss
Description:
The transcriptional repressing Polycomb-group (PcG) and transcriptional activating trithorax-group (trxG) genes of Drosophila are part of a cellular memory system responsible for the stable inheritance of gene activity. PcG proteins assemble into multimeric protein complexes, which are involved in maintaining the transcriptional repressive state of genes over successive cell generations. EED (embryonic ectoderm development) is the human homolog of Eed, a murine PcG gene homologous to the Drosophila homeotic gene, extra sex combs. The human EED protein is 99. 5% identical to the mouse EED protein and contains seven WD repeats, which are involved in protein-protein interactions. There are two human EED transcripts that contain a putative 407-nucleotide-long intron and give rise to two HEED protein isoforms, 535 and 494 amino acids in length. EED interacts in a highly specific manner, both in vitro and in vivo, with histone deacetylase (HDAC) proteins.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-9487R-HRP)
Fournisseur:
Bioss
Description:
LACE1 is a 481 amino acid protein that belongs to the AFG1 ATPase family. LACE1 is encoded by a gene mapping 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
Numéro de catalogue:
(BOSSBS-11816R-A555)
Fournisseur:
Bioss
Description:
Cerebellin (CER), which was originally isolated from rat cerebellum, is a hexadecapeptide derived from a larger precursor called Cerebellin 1, also designated precerebellin 1 or Cbln1. Four propeptides, Cerebellin 1, Cerebellin 2 (Cbln2), Cerebellin 3 (Cbln3) and Cerebellin 4 (Cbln4), comprise the precerebellin subfamily within the C1q protein family. Cerebellin family members act as transneuronal regulators of synapse development and synaptic plasticity in various brain regions. Cerebellin and its metabolite, des-Ser(1)Cer, are also expressed in several extra-cerebellar tissues, including adrenal gland. Cerebellin 1, 2 and 3 assemble into homomeric and heteromeric complexes, thereby influencing each other’s degradation and secretion. Cerebellin 3 is not able to form homomeric complexes, and can only be secreted upon forming a heteromeric complex with Cerebellin 1. Decreased concentrations of Cerebellin have been found in the brain of patients with olivopontocerebellar atrophy (OPCA) and Shy-Drager syndrome, suggesting a role for Cerebellin in the pathology of these diseases.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-11003R-A488)
Fournisseur:
Bioss
Description:
Encoding over 1,100 genes within 132 million bases, chromosome 12 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. Noonan syndrome, which includes heart and facial developmental defects among the primary symptoms, is caused by a mutant form of PTPN11 gene product, SH-PTP2. 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. The FAM62A gene product has been provisionally designated FAM62A pending further characterization.
UOM:
1 * 100 µl
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