• mutation
  • By IHC, 4 tumors (11.8%) had complete loss of RB protein expression, including 2 with homozygous deletion of RB1 by FISH and 1 with hemizygous deletion of RB1 by FISH combined with a novel nonsense mutation in RB1. (nih.gov)
  • Recently, the first example of a human mutation in a MAGUK protein was reported. (jneurosci.org)
  • some families with the mutation that causes BHD develop only kidney tumors or spontaneous pneumothorax. (wikipedia.org)
  • Individuals with VHL syndrome inherit one mutation in the VHL protein that causes the protein's normal function to be lost or altered. (wikipedia.org)
  • Over time, sporadic mutation in the second copy of the VHL protein can lead to carcinomas, in particular hemangioblastomas affecting the liver and kidneys, renal (and vaginal) clear cell adenocarcinomas. (wikipedia.org)
  • Additionally, the nature of the mutation in the VHL protein leads to phenotypic manifestations in the pattern of cancer that develops. (wikipedia.org)
  • progenitor cells
  • Dr. Zhu's research group is interested in understanding the role of NF1 in developing neural stem and progenitor cells and how its loss causes developmental abnormalities, leading to the structural brain defects associated with severe learning disabilities in humans, and the development of benign peripheral nerve sheath tumor, such as plexiform neurofibroma in the peripheral nervous system (PNS) and optic pathway glioma in the central nervous system (CNS). (childrensnational.org)
  • What is the lineage relationship between neural stem and progenitor cells or differentiated cells and tumors in the nervous system. (childrensnational.org)
  • phosphorylation
  • Phosphorylation of serine 311 by protein kinase C zeta type (PKCζ) serves the same purpose. (wikipedia.org)
  • The fact that RELA can be modified by a collection of kinases via phosphorylation at different sites/regions within the protein under different stimulations might suggest a synergistic effect of these modifications. (wikipedia.org)
  • In vivo studies revealed that RELA is also under acetylation modification in the nucleus, which is just as important as phosphorylation as a post-translational modification of proteins. (wikipedia.org)
  • While not completely understood, MyoD is now thought to function as a major myogenesis controller in an on/off switch association mediated by KAP1 (KRAB [Krüppel-like associated box]-associated protein 1) phosphorylation. (wikipedia.org)
  • Another interesting feature is that the NBPF1 protein contains residues that are predicted to have post-translational modifications, including glycation, N-linked glycosylation, O-GlcNAc attachment, O-linked glycosylation, Phosphorylation, and Sumoylation. (wikipedia.org)
  • Additionally, activation of STAT3 may occur via phosphorylation of serine 727 by Mitogen-activated protein kinases (MAPK) and through c-src non-receptor tyrosine kinase. (wikipedia.org)
  • There are three likely sites of phosphorylation on the protein: S85, S98, and S735, which were predicted using the NetPhos program. (wikipedia.org)
  • xenografts
  • The laboratory led by Yanxin Pei, PhD, is interested in understanding the mechanisms of therapy resistance and finding ways to target the resistant tumor cells, using both mouse MYC-driven MB model and human MYC-driven MB xenografts. (childrensnational.org)
  • stem
  • Protein kinase Akt identified as arbiter of cancer stem. (bio-medicine.org)
  • Human brain List of regions in the human brain Lobes of the brain Brain Basal ganglia Brain stem including Medulla oblongata, midbrain, pons Cerebellum Cerebral cortex Hypothalamus Limbic including amygdala Neuroanatomy Note - in conducting brain research, information "where the other end connects" is critical to understanding neural connections, and ultimately how the brain functions. (wikipedia.org)
  • pathways
  • These in vivo data support the model that specific MAGUK proteins couple the NMDA receptor to distinct downstream signaling pathways. (jneurosci.org)
  • The simplest explanation would be that the NMDA receptor subunits would couple to these distinct pathways using specific adaptor proteins, such as the MAGUKs. (jneurosci.org)
  • Neuron
  • The spinal cord has three major functions: as a conduit for neurons communicating action information from brain outwards to motor muscles via motor neurons, as a conduit for neurons communicating sensory information, from the senses inwards to the brain (see also: Sensory neuron, Sensory receptor, Proprioception, and Category:Sensory receptors), as a center for coordinating certain automatic reflexes. (wikipedia.org)
  • Many neurons connect to the brain on one end, with the other end connected to another neuron, with the outside (the brain) junction located within the spinal column. (wikipedia.org)
  • molecular
  • But that initial injury can set into motion secondary cellular and molecular events that cause more damage to the brain and that ultimately determine the outcome for the patient. (bio-medicine.org)
  • Splicing factor RBM10 and its close homologues RBM5 and RBM6 govern the splicing of oncogenes such as Fas, NUMB, and Bcl-X. The molecular architecture of these proteins includes zinc fingers (ZnFs) and RNA recognition motifs (RRMs). (readbyqxmd.com)
  • Investigation into the molecular mechanisms allowing patterns of neuronal activity to induce plasticity in mammalian neurons and behavior has focused on the role of the NMDA subtype of glutamate receptor receptors and a multitude of signaling proteins. (jneurosci.org)
  • Her lab uses biochemical and molecular biological methods to study the protein machinery within a structure called the postsynaptic density. (wikipedia.org)
  • Her lab later used micro-sequencing, molecular cloning, and immunocytochemistry to identify the central PSD scaffold protein PSD-95 and its three repeated domains later termed PDZ domains. (wikipedia.org)
  • cell
  • The researchers expressed the complementary DNA (cDNA) of the murine MyoD protein in a different cell lines (fibroblast and adipoblast) and found MyoD converted them to myogenic cells. (wikipedia.org)
  • This protein may play a role in cell growth, senescence, and differentiation. (wikipedia.org)
  • PIKE inactivation in mice results in a broad range of defects, including neuronal cell death during brain development and misregulation of mammary gland development. (readbyqxmd.com)
  • Two weeks after transient middle cerebral artery occlusion (MCAO), vehicle-treated rats displayed higher numbers of total ionized calcium-binding adaptor molecule 1 (Iba-1)-positive cells, greater cell body areas of Iba-1-positive cells, and higher numbers of hypertrophic Iba-1-positive cells (with a cell body area over 80 μm2) in the ipsilateral ischemic brain regions including the frontal cortex, striatum, and parietal cortex. (readbyqxmd.com)
  • During the first 24 hours of this cycle, a protein called RESA undertakes the first step of renovation: enhancing the stiffness of the cell membranes. (bio-medicine.org)
  • PHILADELPHIA The protein kinase Akt is a key regulator of cell growth. (bio-medicine.org)
  • The results indicate that blocking cardiolipin oxidation by XJB-5-131 protected the brain from cell death. (bio-medicine.org)
  • Tumor cell nuclei Are generally larger than those of non-neoplastic cells. (nih.gov)
  • There are also some emerging mouse models of the AT/RT cancer as well as experimental cell lines derived from tumors. (wikipedia.org)
  • Two-hybrid screening assays have shown that NBPF1 interacts with the coiled coil domains of CBY1, a repressor for the Beta-catenin, a protein that is involved in Wnt signaling for cell proliferation. (wikipedia.org)
  • GADD45G interacts with several other proteins that are involved in DNA repair, cell cycle control, apoptosis, and senescence. (wikipedia.org)
  • In the normal cell with active VHL protein, HIF alpha is regulated by hydroxylation in the presence of oxygen. (wikipedia.org)
  • bHLH
  • The following year, the same research team performed several tests to determine both the structure and function of the protein, confirming their initial proposal that the active site of the protein consisted of the helix loop helix (now referred to as basic helix loop helix) for dimerization and a basic site upstream of this bHLH region facilitated DNA binding only once it became a protein dimer. (wikipedia.org)
  • neurons
  • These fibrils deposit outside neurons in dense formations known as senile plaques or neuritic plaques, in less dense aggregates as diffuse plaques, and sometimes in the walls of small blood vessels in the brain in a process called amyloid angiopathy or congophilic angiopathy. (wikipedia.org)
  • Plaques are dense, mostly insoluble deposits of protein and cellular material outside and around neurons. (wikipedia.org)
  • It is almost exclusively located in the post synaptic density of neurons, and is involved in anchoring synaptic proteins. (wikipedia.org)
  • The number of DUF1220 domains present in the human genome correlates with both brain size and the amount of neurons present in the brain. (wikipedia.org)
  • Mind concepts (as in mind vs. body), and cognitive and behavioral aspects, are introduced where they have at least a fairly direct connection to physical aspects of the brain, neurons, spinal cord, nerve networks, neurotransmitters, etc. (wikipedia.org)
  • Spinal cord - many neurons originate or terminate in the brain and extend down into the spinal column. (wikipedia.org)
  • The spinal cord itself is a bundle of a vast number of neurons, with a total diameter of about 1/2 inch at the brain, thinning to about 1/4 inch diameter at vertebrae L1. (wikipedia.org)
  • Neurons that both originate and terminate inside the brain itself can measure less than a millimeter. (wikipedia.org)
  • Other neurons bundles which are labeled cranial nerves, connect to the brain on one end, and to locations outside the brain on the other, without having a junction inside the spinal column. (wikipedia.org)
  • neuroblastoma
  • This protein is member of the neuroblastoma breakpoint family proteins, a group of proteins that are thought to be involved in the development of the nervous system. (wikipedia.org)
  • The NBPF1 protein is also found to be disrupted by a chromosomal translocation between chromosomes 1 and 17 with in some cases of human neuroblastoma. (wikipedia.org)
  • kinase
  • Triggered by lipopolysaccharide (LPS), protein kinase A (PKA) specifically phosphorylates serine 276 in the RHD domain in the cytoplasm, controlling NF-κB DNA-binding and oligomerization. (wikipedia.org)
  • Phosphoinositide 3-kinase enhancer (PIKE) is a group of GTP-binding proteins that belong to the subgroup of centaurin GTPase family, encoded by CENTG1 located in CDK4 amplicon. (readbyqxmd.com)
  • Phosphoinositide 3-kinase enhancer (PIKE) is a family of GTP-binding proteins that possess anti-apoptotic functions and play an important role in the central nervous system. (readbyqxmd.com)
  • PHILADELPHIA The protein kinase Akt. (bio-medicine.org)
  • Like all MAGUK-family proteins, its basic structure includes three PDZ domains, an SH3 domain, and a guanylate kinase-like domain (GK) connected by disordered linker regions. (wikipedia.org)
  • Her laboratory purified and characterized the synaptic signaling protein Calcium/calmodulin-dependent protein kinase II (CaMKII) in 1983 and showed that it is 1-2% of forebrain protein, is a major constituent of the postsynaptic density, and is regulated by autophosphorylation following activation by synaptic activity. (wikipedia.org)
  • scaffold
  • and dozens of different enzymes and scaffold and cytoskeletal proteins (E. (jneurosci.org)
  • These two MAGUK proteins may interact at postsynaptic sites to form a multimeric scaffold for the clustering of receptors, ion channels, and associated signaling proteins. (wikipedia.org)
  • PDZ domains are now known to be ubiquitous in scaffold proteins where they immobilize other proteins by binding to their C-terminal ligands. (wikipedia.org)
  • breast cancer
  • NaturalNews) Natural chemicals found in the spices turmeric and black pepper appear to stop the growth of breast tumors, according to a study conducted by researchers from the University of Michigan Comprehensive Cancer Center and published in the journal Breast Cancer Research and Treatment. (btsurvivor.com)
  • interact
  • ID1 has been shown to interact weakly with MyoD but very tightly with ubiquitously expressed E proteins. (wikipedia.org)
  • Human NBPF1 has been shown to interact with Ubiquitin C via both protein complex immunoprecipitation and affinity chromatography. (wikipedia.org)
  • 2000
  • AT/RT was only recognized as an entity in 1996 and added to the World Health Organization Brain Tumor Classification in 2000 (Grade IV). (wikipedia.org)
  • primarily
  • A case of a seven-month-old child with a primarily spinal tumor that presented with progressive paraplegia and abnormal feeling in the legs was reported. (wikipedia.org)
  • blood vessels
  • Tumor blood vessels prevent the spread of ca. (bio-medicine.org)
  • A lack of the protein endoglin in the blood vessels of tumour-bearing mice enables the spread of daughter tumours, according to researchers at Karolinska Institutet and Lund University in Sweden in a study published in the scientific periodical The Journal of Experimental Medicine . (bio-medicine.org)
  • Given that the tumour vasculature constitutes an important barrier to the spread of cancer cells, the team suggests that drugs should be developed to strengthen the blood vessels' protective function. (bio-medicine.org)
  • The study shows that the blood vessels play an important role in preventing the spread of tumour cells through the blood stream," says Kristian Pietras, professor at Lund University and also affiliated to Karolinska Institutet. (bio-medicine.org)
  • kidney
  • Birt-Hogg-Dubé syndrome (BHD), also Hornstein-Birt-Hogg-Dubé syndrome, Hornstein-Knickenberg syndrome, and fibrofolliculomas with trichodiscomas and acrochordons is a human autosomal dominant genetic disorder that can cause susceptibility to kidney cancer, renal and pulmonary cysts, and noncancerous tumors of the hair follicles, called fibrofolliculomas. (wikipedia.org)
  • People over 20 years of age with Birt-Hogg-Dubé syndrome have an increased risk of developing slow-growing kidney tumors (chromophobe renal carcinoma and renal oncocytoma, respectively), kidney cysts, and possibly tumors in other organs and tissues. (wikipedia.org)
  • These tumors often occur in both kidneys and in multiple locations in each kidney. (wikipedia.org)
  • The average number of kidney tumors found in a person with BHD is 5.3, though up to 28 tumors have been found. (wikipedia.org)
  • People over 40 years old and men are more likely to develop kidney tumors, which are diagnosed at a median age of 48. (wikipedia.org)
  • pathway
  • This protein can bind TP53 and EP300/p300, a component of the histone acetyl transferase complex, suggesting its involvement in the TP53-dependent regulatory pathway. (wikipedia.org)
  • For the present study, however, the researchers studied the function of a specific signal pathway consisting of the protein endoglin in the vasculature of tumour-bearing mice. (bio-medicine.org)
  • the activation of the NMDA receptor by different stimulation paradigms, all of which may lead to LTP, does not use a single pathway or set of postsynaptic proteins. (jneurosci.org)
  • membrane
  • Within host cells, L. pneumophila establishes a replicative haven by delivering numerous effector proteins into the host cytosol, many of which target membrane trafficking by manipulating the function of Rab GTPases. (readbyqxmd.com)
  • PITTSBURGH, Aug. 26, 2012 Treatment with an agent that blocks the oxidation of an important component of the mitochondrial membrane prevented the secondary damage of severe traumatic brain injury and preserved function that would otherwise have been impaired, according to a research team from the University of Pittsburgh School of Medicine, Graduate School of Public Health and Department of Chemistry in a report published online today in Nature Neuroscience . (bio-medicine.org)
  • Recent work concerns the role of the multifunctional PSD protein synGAP in regulating AMPA receptor insertion into the membrane and trapping of AMPA receptors in the PSD. (wikipedia.org)
  • The protein contains eleven transmembrane domains and is inserted into the membrane of the lysosome. (wikipedia.org)
  • This domain can be used to determine the orientation of the protein in the membrane, with the N-terminus of the protein being within the lysosome and the C-terminus located in the cytosol. (wikipedia.org)
  • These were predicted using the NetNGlyc program from ExPASy and the TMEM63A amino acid sequence, as well as the inferred orientation of the protein in the membrane. (wikipedia.org)
  • MAGUK
  • A detailed understanding of the biology of MAGUK proteins in vivo , and in particular their differential and specific functions, is lacking. (jneurosci.org)
  • cellular
  • RBM10's cellular functions are beginning to be explored, with initial studies demonstrating a tumour suppressor role. (readbyqxmd.com)
  • Proteins with these domains help hold together and organize signaling complexes at cellular membranes. (wikipedia.org)
  • PDZ domains are found in diverse proteins, but all assist in localization of cellular elements. (wikipedia.org)
  • GADD45G is involved in several different processes, including sexual development, human-specific brain development, tumor suppression, and the cellular stress response. (wikipedia.org)
  • role
  • MyoD is a protein that plays a major role in regulating muscle differentiation. (wikipedia.org)
  • This marks the first time that scientists have identified the specific role of the RESA protein in modulating blood circulation in an environment that mimics physiological conditions, and could help researchers determine new strategies to combat malaria, which infects an estimated 300 to 500 million people worldwide each year. (bio-medicine.org)
  • Very recently, however, contradictory results have emerged, suggesting a tumour promoter role for RBM10. (readbyqxmd.com)
  • It plays a large role in neural and brain development with GADD45A. (wikipedia.org)
  • A tumor suppressor role of STAT3 has also been reported. (wikipedia.org)
  • interacts
  • The encoded protein has no DNA binding activity and therefore can inhibit the DNA binding and transcriptional activation ability of basic HLH proteins with which it interacts. (wikipedia.org)
  • human
  • Previous studies indicated a dysregulation of EFHD2 in human Alzheimer's disease brains. (readbyqxmd.com)
  • They are using the mouse as a model system to develop genetic engineering mouse (GEM) tumor models, which recapitulate human nervous system tumors both genetically and phenotypically. (childrensnational.org)
  • It has been documented that frequent hyperactivation of Akt kinases occurs in many types of human solid tumors and blood malignancies. (bio-medicine.org)
  • RBM10 is an RNA binding motif (RBM) protein expressed in most, if not all, human and animal cells. (readbyqxmd.com)
  • More recently, LGI1 has been shown to be the major target of human autoantibodies which immunoprecipitate voltage-gated potassium channel complexes from mammalian brain tissue. (wikipedia.org)
  • Like other NBPF proteins, the NBPF1 protein product contains a repeated domain called DUF1220, a domain of unknown function that is thought to be related to human brain complexity. (wikipedia.org)
  • The following outline is provided as an overview of and topical guide to the human brain: Human brain - central organ of the nervous system located in the head of a human being, protected by the skull. (wikipedia.org)
  • It has the same general structure as the brains of other mammals, but with a more developed cerebral cortex than any other, leading to the evolutionary success of widespread dominance of the human species across the planet. (wikipedia.org)
  • Peripheral nervous system - consists of nerves outside the brain and spinal cord, where they are not protected by the human vertebral column, skull and the protective blood-brain barrier. (wikipedia.org)
  • The mature human protein is approximately 92.1 kilodaltons (kDa), with a relatively high conservation of mass in orthologs. (wikipedia.org)
  • The mature form of the human TMEM63A protein has 807 amino acid residues with an isoelectric point of 6.925. (wikipedia.org)
  • complex
  • Like other proteins in this complex, RELA contains a N-terminal REL-homology domain (RHD), and also a C-terminal transactivation domain (TAD). (wikipedia.org)
  • Comprising NR1 and NR2 subunits that form a Ca 2+ channel, the NMDA receptor is physically linked to cytoplasmic proteins by C-terminal domains of its subunits forming multiprotein complexes, known as the NMDA receptor complex (NRC). (jneurosci.org)
  • The methylase in question, named SET1 in yeast and MLL in mammals, is part of a protein aggregate called COMPASS, for COMplex of Proteins ASsociated with Set1. (bio-medicine.org)
  • Abnormal
  • Amyloid beta, also written Aβ, is a short peptide that is an abnormal proteolytic byproduct of the transmembrane protein amyloid precursor protein (APP), whose function is unclear but thought to be involved in neuronal development. (wikipedia.org)
  • Although little is known about the process of filament assembly, it has recently been shown that a depletion of a prolyl isomerase protein in the parvulin family accelerates the accumulation of abnormal tau. (wikipedia.org)
  • MyoD
  • MyoD, which was discovered in the laboratory of Harold M. Weintraub, belongs to a family of proteins known as myogenic regulatory factors (MRFs). (wikipedia.org)
  • researchers
  • The researchers then developed an agent, called XJB-5-131, which can cross the blood-brain barrier and prevent the oxidation of cardiolipin. (bio-medicine.org)
  • transmembrane
  • Amyloid-beta, also written Aβ, is a short peptide that is a proteolytic byproduct of the transmembrane protein amyloid precursor protein (APP), whose function is unclear but thought to be involved in neuronal development. (wikipedia.org)
  • cells
  • One important cause of relapse is the small number of tumor cells that are initially resistant to radiation and chemotherapy. (childrensnational.org)
  • They have developed model systems whereby we can conditionally alter the expression of oncogenes in tumor cells. (childrensnational.org)
  • In 2006, Kyoto University researcher and Nobel Prize winner Shinya Yamanaka expressed four proteins Oct 4 was one of the - in mouse somatic cells to rewind their genetic clocks, converting them into embryonic-like iPS cells. (bio-medicine.org)
  • For the study, the research team conducted a global assessment of all the phospholipids in rat brain cells. (bio-medicine.org)
  • Assessment of RB1 protein loss in tumor cells. (nih.gov)
  • Investigators knew that if you lopped off more than half of SET1's front end, levels of DNA-bound trimethylated H3K4 in cells harboring the remaining "stub" were equal to those in cells containing the full-length protein when analyzed in bulk. (bio-medicine.org)
  • For cells to function properly it is important for components-proteins and other molecules- to be in the right place at the right time. (wikipedia.org)
  • humans
  • NBPF1 is a 1214 amino acid long protein in humans that weighs 139 kD and has an isoelectric point of around 5. (wikipedia.org)
  • genetic
  • The first area we study is Neurofibromatosis I (also known as NF1), which is a genetic syndrome that can lead to tumors in children. (ucsf.edu)
  • Through a multidisciplinary team approach that includes the specialties of neuro-oncology, neurology, neurosurgery, neuropathology, neuropsychology, and neuroradiology, Children's National not only provides state-of-the-art clinical care, but also performs cutting-edge research investigating the genetic causes, biology, and new treatments of these tumors. (childrensnational.org)