6637 Results for: "Autoradiography+Films&pageNo=51&view=list"

Supplier: Bioss

The second largest human chromosome, 2 consists of 237 million bases encoding over 1,400 genes and making up approximately 8% of the human genome. A number of genetic diseases are linked to genes on chromosome 2. Harlequin icthyosis, a rare and morbid 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 due to mutations in the ALMS1 gene. Interestingly, chromosome 2 contains what appears to be a vestigial second centromere and vestigial telomeres which gives credence to the hypothesis that human chromosome 2 is the result of an ancient fusion of two ancestral chromosomes seen in modern form today in apes. The C2orf27 gene product has been provisionally designated C2orf27 pending further characterization.

Supplier: Bioss

HCCS is a 79 amino acid protein that may act as a tumor suppressor, promoting the apoptosis of cancer cells. Expressed in leukocytes, lung, spleen, liver, heart, kidney, muscle and uterine cervix, HCCS-1 is down-regulated in cervical cancers. The gene encoding HCCS-1 maps to human chromosome 15q25.1. Encoding more than 700 genes, chromosome 15 is made up of approximately 106 million base pairs and comprises about 3% of the human genome. Angelman and Prader-Willi syndromes are associated with loss of function or deletion of genes in the 15q11-q13 region. Tay-Sachs disease is a lethal disorder associated with mutations of the HEXA gene, which is encoded by chromosome 15. Marfan syndrome is associated with chromosome 15 through the FBN1 gene.

Supplier: Bioss

The second largest human chromosome, 2 consists of 237 million bases encoding over 1,400 genes and making up approximately 8% of the human genome. A number of genetic diseases are linked to genes on chromosome 2. Harlequin icthyosis, a rare and morbid 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 due to mutations in the ALMS1 gene. Interestingly, chromosome 2 contains what appears to be a vestigial second centromere and vestigial telomeres which gives credence to the hypothesis that human chromosome 2 is the result of an ancient fusion of two ancestral chromosomes seen in modern form today in apes. The C2orf27 gene product has been provisionally designated C2orf27 pending further characterization.

Supplier: Bioss

Hyperpolarisation-activated, cyclic nucleotide-binding channels (HCN) are voltage-gated cation channels that are activated by direct binding of intracellular cyclic nucleotides. The HCN family consists of four members (HCN1-4), each with a core transmembrane segment domain and a C-terminal 120 amino-acid cyclic nucleotide-binding domain motif. HCN channels are expressed in the brain, heart, thalamus and testis. The pacemaker properties of HCN channels contribute to spontaneous rhythmic activity in the brain and heart. HCN3 contains a segment characterised by a series of positively charged amino acids at every third position. This region designated S4 is likely to be the voltage sensor of the protein. In the brain, HCN3 and HCN4 exhibit subcortical distribution mainly concentrated in the hypothalamus and thalamus, respectively.

Supplier: Bioss

Protocadherins are a large family of cadherin-like cell adhesion proteins that are involved in the establishment and maintenance of neuronal connections in the brain. There are three protocadherin gene clusters, designated alpha, beta and gamma, all of which contain multiple tandemly arranged genes. PCDHB1 (Protocadherin beta 1) is an 818 amino acid protein that is one of 16 proteins in the protocadherin beta cluster. Unlike the alpha and gamma gene clusters whose genes are spliced to downstream constant region exons during transcription, members of the beta cluster (such as PCDHB1) do not use constant-region exons to produce mRNAs. As a result, each protocadherin beta gene encodes the transmembrane, extracellular and short cytoplasmic domains of the protein. PCDHB1 is a single-pass type I membrane protein containing six cadherin domains.

Supplier: Bioss

The second largest human chromosome, 2 consists of 237 million bases encoding over 1,400 genes and making up approximately 8% of the human genome. A number of genetic diseases are linked to genes on chromosome 2. Harlequin icthyosis, a rare and morbid 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 due to mutations in the ALMS1 gene. Interestingly, chromosome 2 contains what appears to be a vestigial second centromere and vestigial telomeres which gives credence to the hypothesis that human chromosome 2 is the result of an ancient fusion of two ancestral chromosomes seen in modern form today in apes. The C2orf27 gene product has been provisionally designated C2orf27 pending further characterization.

Supplier: Bioss

Chromosome 9 consists of about 145 million bases and 4% of the human genome and encodes nearly 900 genes. Considered to play a role in gender determination, deletion of the distal portion of 9p can lead to development of male to female sex reversal, the phenotype of a female with a male X,Y genotype. Hereditary hemorrhagic telangiectasia, which is characterised by harmful vascular defects, is associated with the chromosome 9 gene encoding endoglin protein, ENG. Familial dysautonomia is also associated with chromosome 9 though through the gene IKBKAP. Notably, chromosome 9 encompasses the largest interferon family gene cluster. Chromosome 9 is partnered with chromosome 22 in the translocation leading to the aberrant production of BCR-ABL fusion protein often found in leukemias. The C9orf62 gene product has been provisionally designated C9orf62 pending further characterisation.

Supplier: Bioss

C5orf48 (chromosome 5 open reading frame 48), also known as FLJ27505, MGC163367 or MGC163369, is a 134 amino acid protein. Encoded by a gene that maps to human chromosome 5q23.2, C5orf48 is linked to Autosomal dominant leukodystrophy (ADLD). Chromosome 5 makes up approximately 6% of the human genome and contains 181 million base pairs, which encode 1,000 genes. Chromosome 5 is associated with Cockayne syndrome through the ERCC8 gene and familial adenomatous polyposis through the adenomatous polyposis coli (APC) tumor suppressor gene. Treacher Collins syndrome is caused by insertions or deletions within the TCOF1 gene and is also associated with chromosome 5. Deletion of 5q or chromosome 5 altogether is common in therapy-related acute myelogenous leukemias and myelodysplastic syndrome.

Supplier: Bioss

C3orf32 (chromosome 3 open reading frame 32), also known as fls485, is a 353 amino acid protein encoded by a gene that maps to human chromosome 3p26.1. Chromosome 3 is made up of approximately 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.

Supplier: Bioss

Mammalian protein farnesyl transferases are heterodimeric proteins containing two nonidentical Alpha and beta subunits that attach farnesyl residues to a cysteine at the fourth position from the COOH terminus of several proteins, including nuclear lamins and p21Ras proteins. The natural substrates contain the Cys-A-A-Xaa recognition sequence, where the A residues are aliphatic and Xaa represents methionine, serine, glutamine or cysteine. The purified farnesyl transferase is an a-b heterodimer. The beta subunit, which is known as FT beta, CAAX farnesyltransferase subunit beta, or Ras proteins prenyltransferase subunit beta, is a 437 amino acid protein that contains five PFTB repeats and binds the peptide substrate. The Alpha subunit is suspected to participate in formation of a stable complex with the substrate farnesyl pyrophosphate.

Supplier: Bioss

In budding yeast, the Cdc14a phosphatase activates mitotic exit by dephosphorylation of specific cyclin-dependent kinase (Cdk) substrates and seems to be regulated by sequestration in the nucleolus until its release during mitosis. Human Cdc14a phosphatase is highly similar to Saccharomyces cerevisiae Cdc14 and is a member of the dual specificity protein Tyrosine phosphatase family. It interacts with and dephosphorylates tumor suppressor protein p53 and may regulate the function of p53. In addition, Cdc14a dephosphorylates hCdh1 and activates APCCdh1. Cdc14a phosphatase plays a role in the regulation of the centrosome cycle, mitosis and cytokinesis, thereby influencing chromosome partitioning and genomic stability in human cells. Deregulated human Cdc14a phosphatase disrupts centrosome separation and chromosome segregation.

Supplier: Bioss

The protein encoded by this gene is a membrane glycosylphosphatidylinositol-anchored glycoprotein that tends to aggregate into rod-like structures. The encoded protein contains a highly unstable region of five tandem octapeptide repeats. This gene is found on chromosome 20, approximately 20 kbp upstream of a gene which encodes a biochemically and structurally similar protein to the one encoded by this gene. Mutations in the repeat region as well as elsewhere in this gene have been associated with Creutzfeldt-Jakob disease, fatal familial insomnia, Gerstmann-Straussler disease, Huntington disease-like 1, and kuru. An overlapping open reading frame has been found for this gene that encodes a smaller, structurally unrelated protein, AltPrp. Alternative splicing results in multiple transcript variants.

Supplier: Bioss

Serine/threonine-protein kinase involved in autophagy in response to starvation. Acts upstream of phosphatidylinositol 3-kinase PIK3C3 to regulate the formation of autophagophores, the precursors of autophagosomes. Part of regulatory feedback loops in autophagy: acts both as a downstream effector and negative regulator of mammalian target of rapamycin complex 1 (mTORC1) via interaction with RPTOR. Activated via phosphorylation by AMPK and also acts as a regulator of AMPK by mediating phosphorylation of AMPK subunits PRKAA1, PRKAB2 and PRKAG1, leading to negatively regulate AMPK activity. May phosphorylate ATG13/KIAA652 and RPTOR; however such data need additional evidences. Plays a role early in neuronal differentiation and is required for granule cell axon formation.

Supplier: Bioss

The second largest human chromosome, 2 consists of 237 million bases encoding over 1,400 genes and making up approximately 8% of the human genome. A number of genetic diseases are linked to genes on chromosome 2. Harlequin icthyosis, a rare and morbid 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 due to mutations in the ALMS1 gene. Interestingly, chromosome 2 contains what appears to be a vestigial second centromere and vestigial telomeres which gives credence to the hypothesis that human chromosome 2 is the result of an ancient fusion of two ancestral chromosomes seen in modern form today in apes. The C2orf27 gene product has been provisionally designated C2orf27 pending further characterization.

Supplier: Bioss

Protocadherins are a large family of cadherin-like cell adhesion proteins that are involved in the establishment and maintenance of neuronal connections in the brain. There are three protocadherin gene clusters, designated alpha, beta and gamma, all of which contain multiple tandemly arranged genes. PCDHB1 (Protocadherin beta 1) is an 818 amino acid protein that is one of 16 proteins in the protocadherin beta cluster. Unlike the alpha and gamma gene clusters whose genes are spliced to downstream constant region exons during transcription, members of the beta cluster (such as PCDHB1) do not use constant-region exons to produce mRNAs. As a result, each protocadherin beta gene encodes the transmembrane, extracellular and short cytoplasmic domains of the protein. PCDHB1 is a single-pass type I membrane protein containing six cadherin domains.

Supplier: Bioss

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.

Supplier: Bioss

Chromosome 9 consists of about 145 million bases and 4% of the human genome and encodes nearly 900 genes. Considered to play a role in gender determination, deletion of the distal portion of 9p can lead to development of male to female sex reversal, the phenotype of a female with a male X,Y genotype. Hereditary hemorrhagic telangiectasia, which is characterised by harmful vascular defects, is associated with the chromosome 9 gene encoding endoglin protein, ENG. Familial dysautonomia is also associated with chromosome 9 though through the gene IKBKAP. Notably, chromosome 9 encompasses the largest interferon family gene cluster. Chromosome 9 is partnered with chromosome 22 in the translocation leading to the aberrant production of BCR-ABL fusion protein often found in leukemias. The C9orf62 gene product has been provisionally designated C9orf62 pending further characterisation.

Supplier: Bioss

The GLP2 receptor (GLP2R) is a G protein-coupled receptor superfamily member closely related to the glucagon receptor ans GLP1 receptor. Glucagon-like peptide-2 (GLP2) is a 33-amino acid proglucagon-derived peptide produced by intestinal enteroendocrine cells. Like glucagon-like peptide-1 (GLP1) and glucagon itself, it is derived from the proglucagon peptide encoded by the GCG gene. GLP2 stimulates intestinal growth and upregulates villus height in the small intestine, concomitant with increased crypt cell proliferation and decreased enterocyte apoptosis. Moreover, GLP2 prevents intestinal hypoplasia resulting from total parenteral nutrition. GLP2R, a G protein-coupled receptor superfamily member is expressed in the gut and closely related to the glucagon receptor (GCGR) and the receptor for GLP1 (GLP1R).

Supplier: Bioss

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. Translo-acations 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 C22orf26 gene product has been provisionally designated C22orf26 pending further characterization.

Supplier: Bioss

HCCS is a 79 amino acid protein that may act as a tumor suppressor, promoting the apoptosis of cancer cells. Expressed in leukocytes, lung, spleen, liver, heart, kidney, muscle and uterine cervix, HCCS-1 is down-regulated in cervical cancers. The gene encoding HCCS-1 maps to human chromosome 15q25.1. Encoding more than 700 genes, chromosome 15 is made up of approximately 106 million base pairs and comprises about 3% of the human genome. Angelman and Prader-Willi syndromes are associated with loss of function or deletion of genes in the 15q11-q13 region. Tay-Sachs disease is a lethal disorder associated with mutations of the HEXA gene, which is encoded by chromosome 15. Marfan syndrome is associated with chromosome 15 through the FBN1 gene.

Supplier: Bioss

HCCS is a 79 amino acid protein that may act as a tumor suppressor, promoting the apoptosis of cancer cells. Expressed in leukocytes, lung, spleen, liver, heart, kidney, muscle and uterine cervix, HCCS-1 is down-regulated in cervical cancers. The gene encoding HCCS-1 maps to human chromosome 15q25.1. Encoding more than 700 genes, chromosome 15 is made up of approximately 106 million base pairs and comprises about 3% of the human genome. Angelman and Prader-Willi syndromes are associated with loss of function or deletion of genes in the 15q11-q13 region. Tay-Sachs disease is a lethal disorder associated with mutations of the HEXA gene, which is encoded by chromosome 15. Marfan syndrome is associated with chromosome 15 through the FBN1 gene.

Supplier: Bioss

HCCS is a 79 amino acid protein that may act as a tumor suppressor, promoting the apoptosis of cancer cells. Expressed in leukocytes, lung, spleen, liver, heart, kidney, muscle and uterine cervix, HCCS-1 is down-regulated in cervical cancers. The gene encoding HCCS-1 maps to human chromosome 15q25.1. Encoding more than 700 genes, chromosome 15 is made up of approximately 106 million base pairs and comprises about 3% of the human genome. Angelman and Prader-Willi syndromes are associated with loss of function or deletion of genes in the 15q11-q13 region. Tay-Sachs disease is a lethal disorder associated with mutations of the HEXA gene, which is encoded by chromosome 15. Marfan syndrome is associated with chromosome 15 through the FBN1 gene.

Supplier: Bioss

C3orf70 is a 250 amino acid protein that belongs to the UPF0524 family and is encoded by a gene that maps to human chromosome 3q27.2. Chromosome 3 is made up of approximately 214 million bases encoding over 1100 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 tumour 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.

Supplier: Bioss

Serine/threonine-protein kinase involved in autophagy in response to starvation. Acts upstream of phosphatidylinositol 3-kinase PIK3C3 to regulate the formation of autophagophores, the precursors of autophagosomes. Part of regulatory feedback loops in autophagy: acts both as a downstream effector and negative regulator of mammalian target of rapamycin complex 1 (mTORC1) via interaction with RPTOR. Activated via phosphorylation by AMPK and also acts as a regulator of AMPK by mediating phosphorylation of AMPK subunits PRKAA1, PRKAB2 and PRKAG1, leading to negatively regulate AMPK activity. May phosphorylate ATG13/KIAA0652 and RPTOR; however such data need additional evidences. Plays a role early in neuronal differentiation and is required for granule cell axon formation.

Supplier: Bioss

DEAD box proteins, characterised by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which exhibits RNA-dependent ATPase and ATP-dependent RNA-unwinding activities. This protein is recruited to the cytoplasmic fibrils of the nuclear pore complex, where it participates in the export of mRNA from the nucleus. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene.

Supplier: Bioss

Unknown. Candidate gene encoding tumor antigens.Members of the BAGE gene family encode antigens that are recognised by cytotoxic T lymphocytes and are also known as CT (cancer/testis) antigens. Generated by juxtacentromeric shuffling of the MLL3 gene, the ancestral BAGE gene was expanded by acrocentric exchanges and/or juxtacentromeric movements.Generally, BAGE proteins are silent in all normal tissues with the exception of testis. BAGE2 and BAGE 3 (B melanoma antigen 2 and 3, respectively), also known as Cancer/testis antigen 2.2 and 2.3 (respectively), are 109 amino acid secreted proteins that are expressed in 22% of melanomas, lung and bladder carcinomas, and are also expressed in normal testis tissue. Like the genes encoding MAGE proteins, BAGE genes are most likely silenced by DNA methylation and/or chromatin compaction in normal tissues other than testis.

Supplier: Bioss

FERM domains are roughly 150 amino acids in length and are found in a number of cytoskeletal-associated proteins such as Ezrin, Radixin, Moesin and 4.1 (erythrocyte membrane protein band 4.1), where they provide a link between cytoskeletal signals and membrane dynamics. EPB41L5 (erythrocyte membrane protein band 4.1 like 5), also known as BE37 or YMO1, is a 733 amino acid cytoplasmic protein that contains one FERM domain, which it uses to bind CRB1 (crumbs homolog 1). EPB41L5 is a homolog of zebrafish 'mosaic eyes' (moe), and is widely expressed but found at highest levels in ovary, kidney and brain, and is known to colocalize with _-catenin. EPB41L5 may participate in tight junction positioning during the establishment of epithelial cell polarity, and exists as four alternatively spliced isoforms that are encoded by a gene located on human chromosome 2q14.2.

Supplier: Bioss

The second largest human chromosome, 2 consists of 237 million bases encoding over 1,400 genes and making up approximately 8% of the human genome. A number of genetic diseases are linked to genes on chromosome 2. Harlequin icthyosis, a rare and morbid 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 due to mutations in the ALMS1 gene. Interestingly, chromosome 2 contains what appears to be a vestigial second centromere and vestigial telomeres which gives credence to the hypothesis that human chromosome 2 is the result of an ancient fusion of two ancestral chromosomes seen in modern form today in apes. The C2orf27 gene product has been provisionally designated C2orf27 pending further characterization.

Supplier: Bioss

MYBPC1 is a 1141 amino acid protein that contains three fibronectin type-III domains and seven Ig-like C2-type domains. Existing as a member of the immunoglobulin superfamily, MYBPC1 functions as a thick filament-associated protein that localizes to striated muscle bands in vertebrae and is thought to modify the activity of select ATPases. Additionally, MYBPC1 may play a role in the modulation of muscle contraction and in the overall structural integrity of the cell. The gene encoding MYBPC1 maps to human chromosome 12, which encodes over 1100 genes and comprises approximately 4.5% of the human genome. Chromosome 12 is associated with a variety of diseases and afflictions, including hypochondrogenesis, achondrogenesis, Kniest dysplasia, Noonan syndrome and Trisomy 12p, which causes facial developmental defects and seizure disorders.

Supplier: 3M

Designed with smart and intuitive features, the 3M™ Secure Click™ Half Mask Reusable Respirator is simple, comfortable and reliable. Available in three sizes: Small, medium and large. These respirators all come with an optional speaking diaphragm.