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11423 results for "Siarczan(VI)+talu(I)&pageNo=21"

11423 Results for: "Siarczan(VI)+talu(I)&pageNo=21"

Anti-CXORF21 Rabbit Polyclonal Antibody (Alexa Fluor® 647)

Supplier: Bioss

The X and Y chromosomes are the human sex chromosomes. Chromosome X consists of about 153 million base pairs and nearly 1,000 genes. The combination of an X and Y chromosome lead to normal male development while two copies of X lead to normal female development. There are a number of conditions related to an unsual number and combination of sex chromosomes being inherited. More than one copy of the X chromosome with a Y chromosome causes Klinefelter's syndrome. A single copy of X alone leads to Turner's syndrome. More than 2 copies of the X chromosome, in the absence of a Y chromosome, is known as Triple X syndrome. Color blindness, hemophilia, and Duchenne muscular dystrophy are well known X chromosome-linked conditions which affect males more frequently as males carry a single X chromosome. The CXorf21 gene product has been provisionally designated CXorf21 pending further characterization.

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Anti-FBXL21 Rabbit Polyclonal Antibody (Alexa Fluor® 555)

Supplier: Bioss

FBL3B is a 434 amino acid protein encoded by the human gene FBXL21. FBL3B contains one 40 amino acid F-box region, making it a member of the F-box family. FBL3B also contains three LRR (leucine-rich) repeats. F-box proteins are critical components of the SCF (Skp1-CUL-1-F-box protein) type E3 ubiquitin ligase complex and are involved in substrate recognition and recruitment for ubiquitination. F-box proteins are members of a large family that regulates cell cycle, immune response, signaling cascades and developmental programs by targeting proteins, such as cyclins, cyclin-dependent kinase inhibitors, IkB-a and b-catenin, for degradation by the proteasome after ubiquitination. FBL3B is a substrate-recognition component of the SCF complex that interacts with Skp1 p19 and CUL-1. FBL3B is also associated with expression and regulation of circadian and cryptochrome proteins.

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Anti-COX7A2 Rabbit Polyclonal Antibody (Alexa Fluor® 750)

Supplier: Bioss

Cytochrome c oxidase, the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of three catalytic subunits encoded by mitochondrial genes, and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, while the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes polypeptide 2 (liver isoform) of subunit VIIa, with this polypeptide being present in both muscle and non-muscle tissues. In addition to polypeptide 2, subunit VIIa includes polypeptide 1 (muscle isoform), which is present only in muscle tissues, and a related protein, which is present in all tissues. Alternative splicing results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 4 and 14.

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Wagi laboratoryjne o dużej nośności z górnym załadunkiem, Cubis® II MCE

Supplier: Sartorius Balances

Cubis® II MCE high-capacity toploading balances with essential user interface offer a maximum load between 11,2 and 70,2 kg and readability between 0,1 and 1 g provide the ideal model for every application.

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Precyzyjne (miligramowe) wagi laboratoryjne, Cubis® II MCA

Supplier: Sartorius Balances

Cubis® II MCA precision balances with advanced user interface offer a maximum load of between 320 g and 14200 g and a readability of 1 to 100 mg provide, ideal model for every application.

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VWR® Classic LP / LPC / LPW, Precision Balances with LCD

VWR® Classic LP / LPC / LPW, Precision Balances with LCD

Supplier: VWR Collection

Wytrzymałe i ekonomiczne wagi, które idealnie nadają się do placówek edukacyjnych i zastosowań laboratoryjnych. Modele od oferujących proste ważenie do modeli z automatyczną kalibracją wewnętrzną. Wszystkie modele Classic mają prosty podświetlany wyświetlacz LCD z regulowanym kontrastem i ergonomiczną klawiaturą oraz szalkę ze stali nierdzewnej.

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PDF Wielozadaniowe rejestratory temperatury i wilgotności USB EBI 310, EBI 310 TE, EBI 310 DI, EBI 310 TX, EBI 310 TH (Ebro)

PDF Wielozadaniowe rejestratory temperatury i wilgotności USB EBI 310, EBI 310 TE, EBI 310 DI, EBI 310 TX, EBI 310 TH (Ebro)

Supplier: EBRO

These easy to use data loggers, with USB connection, monitor the temperature and/or the humidity during transport and storage of pharmaceutical, medical or other perishable goods, transport of drugs, vaccines and blood products. They don't need any interface for programming or read-out. An automatic PDF report can be generated without any software.

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Anti-NeuroD1 Rabbit Polyclonal Antibody (Alexa Fluor® 647)

Supplier: Bioss

Acts as a transcriptional activator: mediates transcriptional activation by binding to E box-containing promoter consensus core sequences 5'-CANNTG-3'. Associates with the p300/CBP transcription coactivator complex to stimulate transcription of the secretin gene as well as the gene encoding the cyclin-dependent kinase inhibitor CDKN1A. Contributes to the regulation of several cell differentiation pathways, like those that promote the formation of early retinal ganglion cells, inner ear sensory neurons, granule cells forming either the cerebellum or the dentate gyrus cell layer of the hippocampus, endocrine islet cells of the pancreas and enteroendocrine cells of the small intestine. Together with PAX6 or SIX3, is required for the regulation of amacrine cell fate specification. Also required for dendrite morphogenesis and maintenance in the cerebellar cortex. Associates with chromatin to enhancer regulatory elements in genes encoding key transcriptional regulators of neurogenesis (By similarity).

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Anti-p47 Rabbit Polyclonal Antibody (Alexa Fluor® 750)

Supplier: Bioss

Platelet P47, also known as NSFL1C, UBX1, UBXD10 or UBXN2C, is a 370 amino acid protein that localizes to both the nucleus and the golgi apparatus (specifically to golgi stacks) and contains one SEP domain and one UBX domain. Functioning as part of a ternary complex with VCP (a protein involved in the heterotypic fusion of transport vesicles with their target membranes) and Syntaxin 5, p47 interacts with and reduces the ATPase activity of VCP and is required for the fragmentation of golgi stacks during mitosis and for subsequent reassembly of golgi stacks after mitosis. p47 is subject to phosphorylation during mitosis, which inhibits p47-golgi interaction and is, therefore, required for proper golgi stack formation and cisternal regrowth. Human p47 shares 89% sequence identity with its mouse counterpart, suggesting a conserved role between species. Multiple isoforms of p47 exist due to alternative splicing events.

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Anti-C8ORF40 Rabbit Polyclonal Antibody (ALEXA FLUOR® 647)

Supplier: Bioss

Made up 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 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. The C8orf40 gene product has been provisionally designated C8orf40 pending further characterisation.

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Anti-HSP 40-4/HDJ2/DNAJA1 Rabbit Polyclonal Antibody (Alexa Fluor® 750)

Supplier: Bioss

DnaJ-like proteins interact with HSP 70 molecular chaperones and function to facilitate protein folding and mitochondrial protein import. HSP 40-4, also known as HDJ2, is the human DnaJ homolog that functions as a co-chaperone with a cysteine-rich zinc finger domain. The cellular redox enzyme thioredoxin interacts with HSP 40-4, and oxidation and reduction reversibly regulate HSP 40-4 function in response to the changing redox states of the cell. The zinc finger domain of HSP 40-4 may act as a redox sensor of chaperone-mediated protein-folding machinery, since HSP 40-4 inactivation leads to the oxidation of cysteine thiols and a simultaneous release of coordinated zinc. Loss of the HSP 40-4 protein may be linked to severe defects in spermatogenesis that involve aberrant androgen Signalling.

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Anti-C8ORF40 Rabbit Polyclonal Antibody (ALEXA FLUOR® 680)

Supplier: Bioss

Made up 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 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. The C8orf40 gene product has been provisionally designated C8orf40 pending further characterisation.

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Anti-CDK5RAP2 Rabbit Polyclonal Antibody (Alexa Fluor® 680)

Supplier: Bioss

Cyclin dependent kinase 5 (Cdk5) is a key regulator of cell cycle progression in neuronal differentiation that physically associates with and is activated by the neuron-specific protein p35. CDK5RAP1 (CDK5 regulatory subunit-associated protein 1) specifically inhibits Cdk5 activation by p35 through formation of a dimer that inhibits kinase activity. CDK5RAP2, also known as Centrosome-associated protein 215, is a 1893 amino acid centrosomal protein that regulates activity of CDK5 through complex formation with CDK5RAP1. Expressed in placenta, liver, pancreas, heart, skeletal muscle, lung, brain and kidney, CDK5RAP2 associates with centrosomes throughout the cell cycle. Mutations in the gene encoding CDK5RAP2 results in primary microencephaly autosomal recessive type 3, which is characterised by markedly reduced head sise, brain weight and significant neurological deficits. There are four isoforms of CDK5RAP2 that are produced as a result of alternative splicing events.

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Anti-APG7 Rabbit Polyclonal Antibody (Alexa Fluor® 680)

Supplier: Bioss

E1-like activating enzyme involved in the 2 ubiquitin-like systems required for cytoplasm to vacuole transport (Cvt) and autophagy. Activates ATG12 for its conjugation with ATG5 as well as the ATG8 family proteins for their conjugation with phosphatidylethanolamine. Both systems are needed for the ATG8 association to Cvt vesicles and autophagosomes membranes. Required for autophagic death induced by caspase-8 inhibition. Required for mitophagy which contributes to regulate mitochondrial quantity and quality by eliminating the mitochondria to a basal level to fulfill cellular energy requirements and preventing excess ROS production. Modulates p53/TP53 activity to regulate cell cycle and survival during metabolic stress. Plays also a key role in the maintenance of axonal homeostasis, the prevention of axonal degeneration, the maintenance of hematopoietic stem cells, the formation of Paneth cell granules, as well as in adipose differentiation.

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Anti-IGSF21 Rabbit Polyclonal Antibody (HRP (Horseradish Peroxidase))

Supplier: Bioss

IGSF21 is a 467 amino acid secreted protein that contains two Ig-like (immunoglobulin-like) domains and is a member of the immunoglobulin superfamily. Members of this family of proteins usually localize to the cell membrane, and may act as receptors in the immune response pathways. The gene encoding IGSF21 maps to human chromosome 1p36.13 and mouse chromosome 4 D3. Human chromosome 1 spans 260 million base pairs, contains over 3,000 genes and comprises nearly 8% of the human genome. A large number of disease-associated genes are associated with chromosome 1, including those that are involved in familial adenomatous polyposis, Stickler syndrome, Parkinson’s disease, Gaucher disease, schizophrenia and Usher syndrome. Aberrations in chromosome 1 are found in a variety of cancers, including head and neck cancer, malignant melanoma and multiple myeloma.

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Anti-p47 Rabbit Polyclonal Antibody (Alexa Fluor® 680)

Supplier: Bioss

Platelet P47, also known as NSFL1C, UBX1, UBXD10 or UBXN2C, is a 370 amino acid protein that localizes to both the nucleus and the golgi apparatus (specifically to golgi stacks) and contains one SEP domain and one UBX domain. Functioning as part of a ternary complex with VCP (a protein involved in the heterotypic fusion of transport vesicles with their target membranes) and Syntaxin 5, p47 interacts with and reduces the ATPase activity of VCP and is required for the fragmentation of golgi stacks during mitosis and for subsequent reassembly of golgi stacks after mitosis. p47 is subject to phosphorylation during mitosis, which inhibits p47-golgi interaction and is, therefore, required for proper golgi stack formation and cisternal regrowth. Human p47 shares 89% sequence identity with its mouse counterpart, suggesting a conserved role between species. Multiple isoforms of p47 exist due to alternative splicing events.

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Anti-NeuroD1 Rabbit Polyclonal Antibody (Alexa Fluor® 555)

Supplier: Bioss

Acts as a transcriptional activator: mediates transcriptional activation by binding to E box-containing promoter consensus core sequences 5'-CANNTG-3'. Associates with the p300/CBP transcription coactivator complex to stimulate transcription of the secretin gene as well as the gene encoding the cyclin-dependent kinase inhibitor CDKN1A. Contributes to the regulation of several cell differentiation pathways, like those that promote the formation of early retinal ganglion cells, inner ear sensory neurons, granule cells forming either the cerebellum or the dentate gyrus cell layer of the hippocampus, endocrine islet cells of the pancreas and enteroendocrine cells of the small intestine. Together with PAX6 or SIX3, is required for the regulation of amacrine cell fate specification. Also required for dendrite morphogenesis and maintenance in the cerebellar cortex. Associates with chromatin to enhancer regulatory elements in genes encoding key transcriptional regulators of neurogenesis (By similarity).

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Anti-PDI Rabbit Polyclonal Antibody (FITC (Fluorescein Isothiocyanate))

Supplier: Bioss

This multifunctional protein catalyses the formation, breakage and rearrangement of disulfide bonds. At the cell surface, seems to act as a reductase that cleaves disulfide bonds of proteins attached to the cell. May therefore cause structural modifications of exofacial proteins. Inside the cell, seems to form/rearrange disulfide bonds of nascent proteins. At high concentrations, functions as a chaperone that inhibits aggregation of misfolded proteins. At low concentrations, facilitates aggregation (anti-chaperone activity). May be involved with other chaperones in the structural modification of the TG precursor in hormone biogenesis. Also acts a structural subunit of various enzymes such as prolyl 4-hydroxylase and microsomal triacylglycerol transfer protein MTTP. Receptor for LGALS9; the interaction retains P4HB at the cell surface of Th2 T helper cells, increasing disulfide reductase activity at the plasma membrane, altering the plasma membrane redox state and enhancing cell migration (PubMed:21670307).

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Anti-C2orf61 Rabbit Polyclonal Antibody (Alexa Fluor® 555)

Supplier: Bioss

C2orf61 (chromosome 2 open reading frame 61), also known as FLJ40172, is a 177 amino acid protein encoded by a gene that maps to human chromosome 2p21. As the second largest human chromosome, chromosome 2 makes up approximately 8% of the human genome and contains 237 million bases encoding over 1,400 genes. A number of genetic diseases are linked to genes on chromosome 2. Harlequin icthyosis, a rare skin deformity, is associated with mutations in the ABCA12 gene. The lipid metabolic disorder sitosterolemia is associated with ABCG5 and ABCG8. An extremely rare recessive genetic disorder, Alstr syndrome, is related to mutations in the ALMS1 gene. Chromosome 2 contains a probable vestigial second centromere as well as vestigial telomeres, which gives credence to the hypothesis that human chromosome 2 formed as a result of an ancient fusion of two ancestral chromosomes, which are still present in modern day apes.

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Anti-C2orf61 Rabbit Polyclonal Antibody (Alexa Fluor® 350)

Supplier: Bioss

C2orf61 (chromosome 2 open reading frame 61), also known as FLJ40172, is a 177 amino acid protein encoded by a gene that maps to human chromosome 2p21. As the second largest human chromosome, chromosome 2 makes up approximately 8% of the human genome and contains 237 million bases encoding over 1,400 genes. A number of genetic diseases are linked to genes on chromosome 2. Harlequin icthyosis, a rare skin deformity, is associated with mutations in the ABCA12 gene. The lipid metabolic disorder sitosterolemia is associated with ABCG5 and ABCG8. An extremely rare recessive genetic disorder, Alstr syndrome, is related to mutations in the ALMS1 gene. Chromosome 2 contains a probable vestigial second centromere as well as vestigial telomeres, which gives credence to the hypothesis that human chromosome 2 formed as a result of an ancient fusion of two ancestral chromosomes, which are still present in modern day apes.

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Anti-C2orf61 Rabbit Polyclonal Antibody (Cy7®)

Supplier: Bioss

C2orf61 (chromosome 2 open reading frame 61), also known as FLJ40172, is a 177 amino acid protein encoded by a gene that maps to human chromosome 2p21. As the second largest human chromosome, chromosome 2 makes up approximately 8% of the human genome and contains 237 million bases encoding over 1,400 genes. A number of genetic diseases are linked to genes on chromosome 2. Harlequin icthyosis, a rare skin deformity, is associated with mutations in the ABCA12 gene. The lipid metabolic disorder sitosterolemia is associated with ABCG5 and ABCG8. An extremely rare recessive genetic disorder, Alstr syndrome, is related to mutations in the ALMS1 gene. Chromosome 2 contains a probable vestigial second centromere as well as vestigial telomeres, which gives credence to the hypothesis that human chromosome 2 formed as a result of an ancient fusion of two ancestral chromosomes, which are still present in modern day apes.

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Anti-C2orf61 Rabbit Polyclonal Antibody (FITC (Fluorescein Isothiocyanate))

Supplier: Bioss

C2orf61 (chromosome 2 open reading frame 61), also known as FLJ40172, is a 177 amino acid protein encoded by a gene that maps to human chromosome 2p21. As the second largest human chromosome, chromosome 2 makes up approximately 8% of the human genome and contains 237 million bases encoding over 1,400 genes. A number of genetic diseases are linked to genes on chromosome 2. Harlequin icthyosis, a rare skin deformity, is associated with mutations in the ABCA12 gene. The lipid metabolic disorder sitosterolemia is associated with ABCG5 and ABCG8. An extremely rare recessive genetic disorder, Alstr syndrome, is related to mutations in the ALMS1 gene. Chromosome 2 contains a probable vestigial second centromere as well as vestigial telomeres, which gives credence to the hypothesis that human chromosome 2 formed as a result of an ancient fusion of two ancestral chromosomes, which are still present in modern day apes.

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VWR® Mini Shakers, 230 V

VWR® Mini Shakers, 230 V

Supplier: VWR Collection

VWR® mini shakers feature variable-speed, microprocessor control, providing reliable, uniform mixing action. Ideal for cell cultures, solubility studies, extraction procedures, diagnostic tests, general mixing, hybridisation, genetics research, bacterial suspensions, staining/destaining, and washing procedures.

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Rękawice cleanroom  neoprenowe, DermaShield® 73-711 / 73-721

Rękawice cleanroom neoprenowe, DermaShield® 73-711 / 73-721

Supplier: Ansell

Specyficzne dla dłoni, ergonomicznie zaprojektowane rękawiczki z zawiniętym mankietem. Idealny do stosowania w laboratoriach, produkcji farmaceutycznej, biotechnologicznej i urządzeń medycznych.

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Anti-PDI Rabbit Polyclonal Antibody (Alexa Fluor® 488)

Supplier: Bioss

This multifunctional protein catalyses the formation, breakage and rearrangement of disulfide bonds. At the cell surface, seems to act as a reductase that cleaves disulfide bonds of proteins attached to the cell. May therefore cause structural modifications of exofacial proteins. Inside the cell, seems to form/rearrange disulfide bonds of nascent proteins. At high concentrations, functions as a chaperone that inhibits aggregation of misfolded proteins. At low concentrations, facilitates aggregation (anti-chaperone activity). May be involved with other chaperones in the structural modification of the TG precursor in hormone biogenesis. Also acts a structural subunit of various enzymes such as prolyl 4-hydroxylase and microsomal triacylglycerol transfer protein MTTP. Receptor for LGALS9; the interaction retains P4HB at the cell surface of Th2 T helper cells, increasing disulfide reductase activity at the plasma membrane, altering the plasma membrane redox state and enhancing cell migration (PubMed:21670307).

Expand 1 Items
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Anti-NeuroD1 Rabbit Polyclonal Antibody (Cy7®)

Supplier: Bioss

Acts as a transcriptional activator: mediates transcriptional activation by binding to E box-containing promoter consensus core sequences 5'-CANNTG-3'. Associates with the p300/CBP transcription coactivator complex to stimulate transcription of the secretin gene as well as the gene encoding the cyclin-dependent kinase inhibitor CDKN1A. Contributes to the regulation of several cell differentiation pathways, like those that promote the formation of early retinal ganglion cells, inner ear sensory neurons, granule cells forming either the cerebellum or the dentate gyrus cell layer of the hippocampus, endocrine islet cells of the pancreas and enteroendocrine cells of the small intestine. Together with PAX6 or SIX3, is required for the regulation of amacrine cell fate specification. Also required for dendrite morphogenesis and maintenance in the cerebellar cortex. Associates with chromatin to enhancer regulatory elements in genes encoding key transcriptional regulators of neurogenesis (By similarity).

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Anti-NeuroD1 Rabbit Polyclonal Antibody (Alexa Fluor® 680)

Supplier: Bioss

Acts as a transcriptional activator: mediates transcriptional activation by binding to E box-containing promoter consensus core sequences 5'-CANNTG-3'. Associates with the p300/CBP transcription coactivator complex to stimulate transcription of the secretin gene as well as the gene encoding the cyclin-dependent kinase inhibitor CDKN1A. Contributes to the regulation of several cell differentiation pathways, like those that promote the formation of early retinal ganglion cells, inner ear sensory neurons, granule cells forming either the cerebellum or the dentate gyrus cell layer of the hippocampus, endocrine islet cells of the pancreas and enteroendocrine cells of the small intestine. Together with PAX6 or SIX3, is required for the regulation of amacrine cell fate specification. Also required for dendrite morphogenesis and maintenance in the cerebellar cortex. Associates with chromatin to enhancer regulatory elements in genes encoding key transcriptional regulators of neurogenesis (By similarity).

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Anti-NeuroD1 Rabbit Polyclonal Antibody (Alexa Fluor® 750)

Supplier: Bioss

Acts as a transcriptional activator: mediates transcriptional activation by binding to E box-containing promoter consensus core sequences 5'-CANNTG-3'. Associates with the p300/CBP transcription coactivator complex to stimulate transcription of the secretin gene as well as the gene encoding the cyclin-dependent kinase inhibitor CDKN1A. Contributes to the regulation of several cell differentiation pathways, like those that promote the formation of early retinal ganglion cells, inner ear sensory neurons, granule cells forming either the cerebellum or the dentate gyrus cell layer of the hippocampus, endocrine islet cells of the pancreas and enteroendocrine cells of the small intestine. Together with PAX6 or SIX3, is required for the regulation of amacrine cell fate specification. Also required for dendrite morphogenesis and maintenance in the cerebellar cortex. Associates with chromatin to enhancer regulatory elements in genes encoding key transcriptional regulators of neurogenesis (By similarity).

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Anti-NeuroD1 Rabbit Polyclonal Antibody (HRP (Horseradish PE (Phycoerythrin)rOxidase))

Supplier: Bioss

Acts as a transcriptional activator: mediates transcriptional activation by binding to E box-containing promoter consensus core sequences 5'-CANNTG-3'. Associates with the p300/CBP transcription coactivator complex to stimulate transcription of the secretin gene as well as the gene encoding the cyclin-dependent kinase inhibitor CDKN1A. Contributes to the regulation of several cell differentiation pathways, like those that promote the formation of early retinal ganglion cells, inner ear sensory neurons, granule cells forming either the cerebellum or the dentate gyrus cell layer of the hippocampus, endocrine islet cells of the pancreas and enteroendocrine cells of the small intestine. Together with PAX6 or SIX3, is required for the regulation of amacrine cell fate specification. Also required for dendrite morphogenesis and maintenance in the cerebellar cortex. Associates with chromatin to enhancer regulatory elements in genes encoding key transcriptional regulators of neurogenesis (By similarity).

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Anti-C8ORF40 Rabbit Polyclonal Antibody (ALEXA FLUOR® 350)

Supplier: Bioss

Made up 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 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. The C8orf40 gene product has been provisionally designated C8orf40 pending further characterisation.

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