Hledali jste: u0029

Katalogové číslo: (BOSSBS-8288R-CY5.5)

Dodavatel: Bioss

Popis: Dihydropyrimidine dehydrogenase (DPYD) catalyzes the first rate-limiting step of the NADPH-dependent catabolism of uracil and thymine to dihydrouracil and dihydrothymine; thus, a deficiency of DPYD leads to an accumulation of uracil and thymine. Abnormal concentrations of these metabolites in bodily fluids may be the cause of neurological disease and a contraindication for treatment of cancer patients with certain pyrimidine analogs. DPYD also catalyzes the anticancer agent 5-fluorouracil (5-FU) pathway and is involved in the efficacy and toxicity of 5-FU. Variations in DPYD concentration may arise from alterations at the transcriptional level of the dihydropyrimidine dehydrogenase gene. Specifically, hypermethylation of the DPYD promoter downregulates dihydropyrimidine dehydrogenase expression. Deficient DPYD alleles may constitute a risk factor for severe toxicity following treatment with 5-FU.Involvement in disease:Defects in DPYD are the cause of dihydropyrimidine dehydrogenase deficiency (DPYD deficiency) ; also known as hereditary thymine-uraciluria or familial pyrimidinemia. DPYD deficiency is a disease characterized by persistent urinary excretion of excessive amounts of uracil, thymine and 5-hydroxymethyluracil. Patients suffering from this disease show a severe reaction to the anticancer drug 5-fluorouracil. This reaction includes stomatitis, Leukopenia, thrombocytopenia, hair loss, diarrhea, fever, marked weight loss, cerebellar ataxia, and neurologic symptoms, progressing to semicoma.

Měrná jednotka: 1 * 100 µl

Akce

Katalogové číslo: (BOSSBS-8288R-A488)

Dodavatel: Bioss

Popis: Dihydropyrimidine dehydrogenase (DPYD) catalyzes the first rate-limiting step of the NADPH-dependent catabolism of uracil and thymine to dihydrouracil and dihydrothymine; thus, a deficiency of DPYD leads to an accumulation of uracil and thymine. Abnormal concentrations of these metabolites in bodily fluids may be the cause of neurological disease and a contraindication for treatment of cancer patients with certain pyrimidine analogs. DPYD also catalyzes the anticancer agent 5-fluorouracil (5-FU) pathway and is involved in the efficacy and toxicity of 5-FU. Variations in DPYD concentration may arise from alterations at the transcriptional level of the dihydropyrimidine dehydrogenase gene. Specifically, hypermethylation of the DPYD promoter downregulates dihydropyrimidine dehydrogenase expression. Deficient DPYD alleles may constitute a risk factor for severe toxicity following treatment with 5-FU.Involvement in disease:Defects in DPYD are the cause of dihydropyrimidine dehydrogenase deficiency (DPYD deficiency) ; also known as hereditary thymine-uraciluria or familial pyrimidinemia. DPYD deficiency is a disease characterized by persistent urinary excretion of excessive amounts of uracil, thymine and 5-hydroxymethyluracil. Patients suffering from this disease show a severe reaction to the anticancer drug 5-fluorouracil. This reaction includes stomatitis, Leukopenia, thrombocytopenia, hair loss, diarrhea, fever, marked weight loss, cerebellar ataxia, and neurologic symptoms, progressing to semicoma.

Měrná jednotka: 1 * 100 µl

Akce

Katalogové číslo: (PRSI29-685)

Dodavatel: ProSci Inc.

Popis: KRT13 is a member of the keratin gene family. The keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into cytokeratins and hair keratins. Most of the type I cytokeratins consist of acidic proteins which are arranged in pairs of heterotypic keratin chains. This type I cytokeratin is paired with keratin 4 and expressed in the suprabasal layers of non-cornified stratified epithelia.The protein encoded by this gene is a member of the keratin gene family. The keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into cytokeratins and hair keratins. Most of the type I cytokeratins consist of acidic proteins which are arranged in pairs of heterotypic keratin chains. This type I cytokeratin is paired with keratin 4 and expressed in the suprabasal layers of non-cornified stratified epithelia. Mutations in this gene and keratin 4 have been associated with the autosomal dominant disorder White Sponge Nevus. The type I cytokeratins are clustered in a region of chromosome 17q21.2. Alternative splicing of this gene results in multiple transcript variants; however, not all variants have been described.

Měrná jednotka: 1 * 100 µG

Akce

Katalogové číslo: (PRSI29-769)

Dodavatel: ProSci Inc.

Popis: KRT20 is a member of the keratin family. The keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into cytokeratins and hair keratins. The type I cytokeratins consist of acidic proteins which are arranged in pairs of heterotypic keratin chains. This cytokeratin is a major cellular protein of mature enterocytes and goblet cells and is specifically expressed in the gastric and intestinal mucosa.The protein encoded by this gene is a member of the keratin family. The keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into cytokeratins and hair keratins. The type I cytokeratins consist of acidic proteins which are arranged in pairs of heterotypic keratin chains. This cytokeratin is a major cellular protein of mature enterocytes and goblet cells and is specifically expressed in the gastric and intestinal mucosa. The type I cytokeratin genes are clustered in a region of chromosome 17q12-q21. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Entrez Gene record to access additional publications.

Měrná jednotka: 1 * 100 µG

Akce

Katalogové číslo: (PRSI56-393)

Dodavatel: ProSci Inc.

Popis: SLC12A7 mediates electroneutral potassium-chloride cotransport when activated by cell swelling. May mediate K(+) uptake into Deiters' cells in the cochlea and contribute to K(+) recycling in the inner ear. Important for the survival of cochlear outer and inner hair cells and the maintenance of the organ of Corti. May be required for basolateral Cl(-) extrusion in the kidney and contribute to renal acidification (By similarity).

Měrná jednotka: 1 * 400 µl

Akce

Katalogové číslo: (PRSI27-776)

Dodavatel: ProSci Inc.

Popis: SOX18 is a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. This protein plays a role in hair, blood vessel, and lymphatic vessel development. Mutations in this gene have been associated with recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia.

Měrná jednotka: 1 * 50 µG

Akce

Katalogové číslo: (PRSI33-668)

Dodavatel: ProSci Inc.

Popis: This mAb recognises a protein of 56 kDa, identified as Cytokeratin 6 (CK6). In humans, multiple isoforms of Cytokeratin 6 (6A-6F), encoded by several highly homologous genes, have distinct tissue expression patterns, and Cytokeratin 6A is the dominant form in epithelial tissue. The gene encoding human Cytokeratin 6A maps to chromosome 12q13, and mutations in this gene are linked to several inheritable hair and skin pathologies. Keratins 6 and 16 are expressed in keratinocytes, which are undergoing rapid turnover in the suprabasal region (also known as hyper-proliferation-related keratins). Keratin 6 is found in hair follicles, suprabasal cells of a variety of internal stratified epithelia, in epidermis, in both normal and hyper-proliferative situations. Epidermal injury results in activation of keratinocytes, which express CK6 and CK16. CK6 is strongly expressed in about 75% of head and neck squamous cell carcinomas. Expression of CK6 is particularly associated with differentiation.

Měrná jednotka: 1 * 100 µG

Akce

Katalogové číslo: (PRSI33-678)

Dodavatel: ProSci Inc.

Popis: Keratins are a family of intermediate filament proteins that assemble into filaments through forming heterodimers of one type I keratin (keratins 9 to 23) and one type II keratin (keratins 1 to 8). Keratins demonstrate tissue and differentiation specific expression profiles. Keratin 15 is a type I keratin which is expressed only in basal keratinocytes in stratified epithelia and does not appear to have a natural type II expression partner. Keratin 15 is down regulated in activated keratinocytes. Cytokeratin 15 is a specific marker of stem cells of the hair-follicle bulge and may be a useful marker for diagnosis between basal cell carcinoma (BCC) and trichoepithelioma. Trichoblastoma are benign neoplasms of follicular differentiation frequently found in nevus sebaceous. Many morphologic features are shared with nodular basal cell carcinoma, sometimes rendering a diagnosis difficult. Trichoblastoma and BCC show variable expression of Cytokeratin 15 and Cytokeratin 19, and absence of hair keratins.

Měrná jednotka: 1 * 100 µG

Akce

Katalogové číslo: (PRSI27-777)

Dodavatel: ProSci Inc.

Popis: SOX18 a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. This protein plays a role in hair, blood vessel, and lymphatic vessel development. Mutations in this gene have been associated with recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia.

Měrná jednotka: 1 * 100 µG

Akce

Katalogové číslo: (BOSSBS-9051R-A555)

Dodavatel: Bioss

Popis: Calcium-activated non selective (CAN) cation channel that mediates membrane depolarization. While it is activated by increase in intracellular Ca(2+), it is impermeable to it. Mediates transport of monovalent cations (Na(+) >K(+) >Cs(+) >Li(+)), leading to depolarize the membrane. It thereby plays a central role in cadiomyocytes, neurons from entorhinal cortex, dorsal root and vomeronasal neurons, endocrine pancreas cells, kidney epithelial cells, cochlea hair cells etc. Participates in T-cell activation by modulating Ca(2+) oscillations after T lymphocyte activation, which is required for NFAT-dependent IL2 production. Involved in myogenic constriction of cerebral arteries. Controls insulin secretion in pancreatic beta-cells. May also be involved in pacemaking or could cause irregular electrical activity under conditions of Ca(2+) overload. Affects T-helper 1 (Th1) and T-helper 2 (Th2) cell motility and cytokine production through differential regulation of calcium signaling and NFATC1 localization. Enhances cell proliferation through up-regulation of the beta-catenin signaling pathway.Involvement in disease:Defects in TRPM4 are the cause of progressive familial heart block type 1B (PFHB1B) [MIM:604559]. It is a cardiac bundle branch disorder characterized by progressive alteration of cardiac conduction through the His-Purkinje system, with a pattern of a right bundle-branch block and/or left anterior hemiblock occurring individually or together. It leads to complete atrio-ventricular block causing syncope and sudden death.

Měrná jednotka: 1 * 100 µl

Akce

Katalogové číslo: (BOSSBS-11264R-A680)

Dodavatel: Bioss

Popis: Myosin VI a molecular motor involved in intracellular vesicle and organelle transport, is the only Myosin motor that binds to the pointed end of Actin. This unique Myosin has only one light chain in the lever-arm domain and has highly irregular stepping with a wide range of step sizes, unlike that of other characterised Myosins. It associates with Clathrin-coated vesicles and disabled 2, indicating a role for Myosin VI in endocytosis. Mouse Myosin VI is expressed within the sensory hair cells of the cochlea. Human Myosin VI is mapped to the centromeric region of chromosome 6, a region that shows syntenic homology with the corresponding mouse chromosome 9 region, where the Snell's Waltzer mutation is located. The behavioural effects of the mouse Snell's Waltzer mutation are lack of responsiveness to sound, hyperactivity, head tossing and circling, due to the disorganization and fusing of stereocilia bundles within the inner ear. Defects of Myosin VI cause autosomal dominant nonsyndromic sensori-neural deafness in humans. Human Myosin VI is expressed in fetal cochlea and brain, as well as in adult brain.

Měrná jednotka: 1 * 100 µl

Akce

Katalogové číslo: (PRSI29-693)

Dodavatel: ProSci Inc.

Popis: S100A3 is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. This protein has the highest content of cysteines of all S100 proteins, has a high affinity for Zinc, and is highly expressed in human hair cuticle. The precise function of this protein is unknown.The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein has the highest content of cysteines of all S100 proteins, has a high affinity for Zinc, and is highly expressed in human hair cuticle. The precise function of this protein is unknown.

Měrná jednotka: 1 * 100 µG

Akce

Katalogové číslo: (BOSSBS-9680R-A647)

Dodavatel: Bioss

Popis: C19orf28, also known as PP3501, is a multi-pass membrane protein that belongs to the major facilitator superfamily. The gene encoding C19orf28 localizes to chromosome 19 and, due to alternative splicing events, C19orf28 exists as two isoforms. Consisting of around 63 million bases with over 1,400 genes, chromosome 19 makes up over 2% of human genomic DNA. Chromosome 19 includes a diversity of interesting genes and is recognized for having the greatest gene density of the human chromosomes. It is the genetic home for a number of immunoglobulin superfamily members including the killer cell and leukocyte Ig-like receptors, a number of ICAMs, the CEACAM and PSG family, and Fc receptors. Key genes for eye color and hair color also map to chromosome 19. Peutz-Jeghers syndrome, spinocerebellar ataxia type 6, the stroke disorder CADASIL, hypercholesterolemia and insulin-dependent diabetes have been linked to chromosome 19. Translocations with chromosome 19 and chromosome 14 can be seen in some lymphoproliferative disorders and typically involve the proto-oncogene BCL3. The C19orf28 gene product has been provisionally designated C19orf28 pending further characterization.

Měrná jednotka: 1 * 100 µl

Akce

Katalogové číslo: (BOSSBS-9051R-CY3)

Dodavatel: Bioss

Popis: Calcium-activated non selective (CAN) cation channel that mediates membrane depolarization. While it is activated by increase in intracellular Ca(2+), it is impermeable to it. Mediates transport of monovalent cations (Na(+) >K(+) >Cs(+) >Li(+)), leading to depolarize the membrane. It thereby plays a central role in cadiomyocytes, neurons from entorhinal cortex, dorsal root and vomeronasal neurons, endocrine pancreas cells, kidney epithelial cells, cochlea hair cells etc. Participates in T-cell activation by modulating Ca(2+) oscillations after T lymphocyte activation, which is required for NFAT-dependent IL2 production. Involved in myogenic constriction of cerebral arteries. Controls insulin secretion in pancreatic beta-cells. May also be involved in pacemaking or could cause irregular electrical activity under conditions of Ca(2+) overload. Affects T-helper 1 (Th1) and T-helper 2 (Th2) cell motility and cytokine production through differential regulation of calcium signaling and NFATC1 localization. Enhances cell proliferation through up-regulation of the beta-catenin signaling pathway.Involvement in disease:Defects in TRPM4 are the cause of progressive familial heart block type 1B (PFHB1B) [MIM:604559]. It is a cardiac bundle branch disorder characterized by progressive alteration of cardiac conduction through the His-Purkinje system, with a pattern of a right bundle-branch block and/or left anterior hemiblock occurring individually or together. It leads to complete atrio-ventricular block causing syncope and sudden death.

Měrná jednotka: 1 * 100 µl

Akce

Katalogové číslo: (BOSSBS-9051R-CY5.5)

Dodavatel: Bioss

Popis: Calcium-activated non selective (CAN) cation channel that mediates membrane depolarization. While it is activated by increase in intracellular Ca(2+), it is impermeable to it. Mediates transport of monovalent cations (Na(+) >K(+) >Cs(+) >Li(+)), leading to depolarize the membrane. It thereby plays a central role in cadiomyocytes, neurons from entorhinal cortex, dorsal root and vomeronasal neurons, endocrine pancreas cells, kidney epithelial cells, cochlea hair cells etc. Participates in T-cell activation by modulating Ca(2+) oscillations after T lymphocyte activation, which is required for NFAT-dependent IL2 production. Involved in myogenic constriction of cerebral arteries. Controls insulin secretion in pancreatic beta-cells. May also be involved in pacemaking or could cause irregular electrical activity under conditions of Ca(2+) overload. Affects T-helper 1 (Th1) and T-helper 2 (Th2) cell motility and cytokine production through differential regulation of calcium signaling and NFATC1 localization. Enhances cell proliferation through up-regulation of the beta-catenin signaling pathway.Involvement in disease:Defects in TRPM4 are the cause of progressive familial heart block type 1B (PFHB1B) [MIM:604559]. It is a cardiac bundle branch disorder characterized by progressive alteration of cardiac conduction through the His-Purkinje system, with a pattern of a right bundle-branch block and/or left anterior hemiblock occurring individually or together. It leads to complete atrio-ventricular block causing syncope and sudden death.

Měrná jednotka: 1 * 100 µl

Akce

Katalogové číslo: (PRSI27-780)

Dodavatel: ProSci Inc.

Popis: POU4F3 is capable of activating both BDNF and NT-3 promoters in inner ear sensory epithelial cell lines. Mutant POU4F3 loses most of its transcriptional activity and most of its ability to bind to DNA. The mutation causes autosomal-dominant nonsyndromic hearing loss and eventually leads to hair cell morbidity in affected family members.

Měrná jednotka: 1 * 100 µG

Akce