• gene
  • A new study led by Weill Cornell Medical College scientists shows that Fragile X syndrome occurs because of a mechanism that shuts off the gene associated with the disease. (fraxa.org)
  • This binding appears to gum up the gene, making it inactive and unable to produce a protein crucial to the transmission of signals between brain cells. (fraxa.org)
  • Until 11 weeks of gestation, the fragile X syndrome gene is active - it produces its messenger RNA and protein normally. (fraxa.org)
  • This is new biology - an interaction between the RNA and the DNA of the fragile X syndrome gene causes disease," Dr. Jaffrey says. (fraxa.org)
  • At that point, the messenger RNA produced by the fragile X gene makes what the researchers call an RNA-DNA duplex - a particular arrangement of molecules in which the messenger RNA is stuck onto its DNA complement. (fraxa.org)
  • The RNA-DNA duplex then shuts down production of the fragile X syndrome gene, causing the loss of a protein needed for communication between brain cells. (fraxa.org)
  • A normal fragile X gene - one with fewer than 200 CGG repeats - stays active in a person without the disorder, and produces the necessary protein. (fraxa.org)
  • However, the mutant fragile X gene contains more than 200 CGG repeats, resulting in fragile X syndrome. (fraxa.org)
  • The stem cells were coaxed to become brain neurons, and at about 50 days, they differentiated in the same way that an embryo's brain is developing at 11-plus weeks when the fragile X syndrome gene is switched off. (fraxa.org)
  • Strikingly, the gene never stopped producing its beneficial protein. (fraxa.org)
  • This may delay or prevent the silencing of the fragile X gene, which could potentially significantly improve the outcome of these patients," he says. (fraxa.org)
  • The key exception was the disease-causing gene, which becomes inactivated to cause the disease, and did not get turned back on in the iPS cells. (bio-medicine.org)
  • The mutation that silences the fragile X gene and blocks its protein lies buried just upstream of the gene's coding region in triplet repeats of DNA. (bio-medicine.org)
  • Three years ago, Urbach, Benvenisty and their Israeli collaborators reported the first direct evidence that the fragile X gene was silenced upon differentiation. (bio-medicine.org)
  • The fragile X gene may be one of the first genes to resist the reprogramming process that transforms adult tissue cells into iPS cells, but it's likely not the last, said the researchers. (bio-medicine.org)
  • While only a small portion of autism spectrum disorders (ASDs) can be traced to their genetic roots, those that can are most often part of Fragile X syndrome (FXS), the most commonly known single-gene cause of autism. (stem-cells-news.com)
  • That glow will tell them whether they have successfully turned on a gene that is usually turned off in individuals with fragile X syndrome . (wisc.edu)
  • What's unusual about fragile X is that the mutation that causes the disease doesn't delete or disrupt the gene, it just turns it off. (wisc.edu)
  • Another challenge researchers face is being able to tell when a particular gene is turned on in cells. (wisc.edu)
  • It would take far too long to apply individual drugs, collect the cells being tested and use traditional methods to check whether a specific gene is on or off in those cells. (wisc.edu)
  • Much like the warning light on an induction cooking range that tells users the range is on, reporter cell lines have an easy-to-measure component that tells researchers when a particular gene is turned on. (wisc.edu)
  • You can put a drug on these reporter cells and if the gene is turned on by that drug then you will get a bright luminescence signal," says Bhattacharyya. (wisc.edu)
  • Researchers can also measure the intensity of the glow to get an idea of how much protein is being made from that gene. (wisc.edu)
  • However, the biggest advantage of reporter cell lines is they can be used in high-throughput, automated systems to efficiently test whether any of hundreds of thousands of drugs can turn on the gene of interest without harming the cell. (wisc.edu)
  • Microdeletion of 22q13 region encompassing SHANK3 gene and rare heterozygous mutations in SHANK3 have been associated with neurodevelopmental disorder Phelan-McDermid syndrome (PMDS), autism spectrum disorders (ASDs), non-syndromic intellectual disability, and schizophrenia. (ommbidblog.com)
  • Using genome editing with zinc finger nucleases, the authors inserted an inducible XIST (the X-inactivation gene) on chromosome 21 in Down syndrome pluripotent stem cells. (ommbidblog.com)
  • Filaminopathies A caused by mutations in the X-linked FLNA gene are responsible for a wide spectrum of rare diseases including 2 main phenotypes, the X-linked dominant form of periventricular nodular heterotopia (FLNA-PVNH) and the otopalatodigital syndrome spectrum of disorders. (bloodjournal.org)
  • It is also suggested that the endogenous expression of the Bantam gene in the developing eye imaginal disc contributes to controlling the level of hid-induced apoptosis, which is normally involved in reducing cell number in the pupal eye disc. (wikipedia.org)
  • isolated the lin-4 gene, they found that instead of producing an mRNA encoding a protein, it produced short non-coding RNAs, one of which was a ~22-nucleotide RNA that contained sequences partially complementary to multiple sequences in the 3' UTR of the lin-14 mRNA. (wikipedia.org)
  • mutation
  • While researchers have known for more than two decades that the culprit behind Fragile X is an unusual mutation characterized by the excess repetition of a particular segment of the genetic code, they weren't sure why the presence of a large number of these repetitions - 200 or more - sets the disease process in motion. (fraxa.org)
  • Because the fragile X syndrome mutation is a repeat sequence, it is very easy for just a small portion of this sequence in the messenger RNA to find a matching repeat sequence on the DNA," Dr. Jaffrey says. (fraxa.org)
  • If a pregnant woman is told that her fetus carries the genetic mutation causing fragile X syndrome, we could potentially intervene and give the drug during gestation. (fraxa.org)
  • congenital
  • 9 The otopalatodigital spectrum encompass heterogeneous diseases characterized by skeletal dysplasia, mental retardation in some cases, and congenital malformations. (bloodjournal.org)
  • 10 Familial cardiac valvular dystrophy, 11 congenital intestinal pseudo-obstruction, 12 and terminal osseous dysplasia 13 define other presentations of filaminopathies A. This diversity of phenotypes suggests that interference with the multiple functions of FLNa has as a consequence the appearance of distinct pathophysiologic manifestations without, as yet, clear phenotype-genotype correlations, except for Melnick-Needles syndrome, one of the otopalatodigital spectrum disorders. (bloodjournal.org)
  • RNAs
  • Stress granules are dense aggregations in the cytosol composed of proteins & RNAs that appear when the cell is under stress. (wikipedia.org)
  • Efforts to identify all RNAs within stress granules (the stress granule transcriptome) in an unbiased way by sequencing RNA from biochemically purified stress granule "cores" have shown that mRNAs may be only generically associated with stress granules, since particular mRNAs are not comparatively enriched in stress granules compared to the cytosol and nearly all mRNAs in the cell can be found in stress granules to some extent. (wikipedia.org)
  • mRNA
  • As a result, these mRNA molecules are silenced, by one or more of the following processes: Cleavage of the mRNA strand into two pieces, Destabilization of the mRNA through shortening of its poly(A) tail, and Less efficient translation of the mRNA into proteins by ribosomes. (wikipedia.org)
  • This complementarity was proposed to inhibit the translation of the lin-14 mRNA into the LIN-14 protein. (wikipedia.org)
  • The RNA molecules stored are stalled translation pre-initiation complexes: failed attempts to make protein from mRNA. (wikipedia.org)
  • Furthermore, it was estimated that only about 10% of the total mRNA in the cell is localized to stress granules, suggesting that stress granules only influence a minority of mRNAs in the cell and may not be as important for mRNA processing as previously thought. (wikipedia.org)
  • receptors
  • Indeed, lactoferrin exerts its biological effects by binding to specific lactoferrin receptors on target cells. (stanford.edu)
  • SHANK and Homer scaffolding proteins normally help organize the synapse and support a number of other macromolecules, including neurotransmitter receptors. (acs.org)
  • SHANK3 codes for a scaffolding protein located at the very tip of the postsynapse that helps anchor neurotransmitter receptors at the nerve cell surface. (acs.org)
  • Altered GABAergic transmission through Cl--permeable GABAA receptors (GABAARs) is known to contribute to learning and memory deficits in Down syndrome mouse models. (ommbidblog.com)
  • iPSC
  • To address these limitations, we report on the generation of induced pluripotent stem cell (iPSC) lines from multiple patients with FXS and the characterization of their differentiation into post-mitotic neurons and glia. (nih.gov)
  • Molecular
  • The first section of the text explains the molecular mechanism and biology of lens epithelial cells that lead to the incidence of PCO. (stanford.edu)
  • The stress proteins that are the main component of stress granules in plant cells are molecular chaperones that sequester, protect, and possibly repair proteins that unfold during heat and other types of stress. (wikipedia.org)
  • neurons
  • They are also using brand-new stem cell technology to grow neurons from autistic patients' skin cells and examine their mechanics in a petri dish. (acs.org)
  • In periventricular nodular heterotopia (FLNA-PVNH), there is a neuronal migration defect that gives to the neurons the appearance of nodules lining the margins of the cerebral ventricles, 8 and variable associated features may be observed extending to Ehlers-Danlos syndrome. (bloodjournal.org)
  • receptor
  • In the absence of the protein, nerve cells express too much of an excitatory receptor. (bio-medicine.org)
  • These signaling compounds flow from the presynapse across a small cleft and activate receptor proteins embedded in the cell membrane of the postsynapse. (acs.org)
  • epithelial cells
  • This book is the first to summarize the current knowledge of the cell biology of lens epithelial cells in relation to and in the development of posterior capsular opacification (PCO). (stanford.edu)
  • Opacification of the posterior capsule appears to be linked to lens epithelial cells that are left behind in the eye during cataract removal. (stanford.edu)
  • tissue
  • 4 Although the fundamental principle of stem cell research remains the same (ie, the development of undifferentiated cells into committed cell lineages for the purpose of tissue renewal and repair), the science has evolved to encompass many new applications, including cell-based therapies 5 and drug screening. (aappublications.org)
  • Both models strongly suggest that minocycline acts on the FXS disease state via inhibition of matrix metalloproteinases (MMPs), a class of zinc-dependent extracellular proteases important in tissue remodeling and cell-cell signaling. (hindawi.com)
  • mice
  • In this study, GABAAR signaling was found to be excitatory rather than inhibitory, and the reversal potential for GABAAR-driven Cl- currents (ECl) was shifted toward more positive potentials in the hippocampi of adult Down syndrome mice. (ommbidblog.com)
  • Behavioral and stereological characterization of Hdc KO mice: relation to Tourette syndrome. (mbfbioscience.com)
  • Parvalbumin-expressing ependymal cells in rostral lateral ventricle wall adhesions contribute to aging-related ventricle stenosis in mice. (mbfbioscience.com)
  • regulate
  • Furthermore, lactoferrin can regulate the function of innate and adaptive immune cells and exhibits immuno-modulating properties. (stanford.edu)
  • adult
  • Disorders that begin in childhood such as autism, language disorders or mental retardation as well as adult-onset mental disorders may have origins early in neurodevelopment. (frontiersin.org)
  • While the importance of the growth and structuring of the brain has long been recognized for disorders that begin in childhood such as autism, language disorders or mental retardation, there is consensus building that adult-onset mental disorders also have origins early in neurodevelopment. (frontiersin.org)
  • In the last three years a new technique for reprogramming adult cells. (bio-medicine.org)
  • neurobiology
  • In order to expand our understanding of these origins, the National Institute of Mental Health (NIMH) is investing in studies of developmental neurobiology, choosing one of its strategies to be the support of "research to improve our basic understanding of the development, structure, and function of neural circuits, with a focus on those most relevant to mental disorders" ( NAMHC, 2008 ). (frontiersin.org)
  • Announcer: Recently, Dr. Ricardo Dolmetsch, an associate professor of neurobiology at Stanford, spoke with National Institute of Mental Health Director Dr. Thomas Insel. (stem-cells-news.com)
  • human
  • New Tactics of Human Red Blood Cells Stored at 4 Degrees C-protective Effect of Antioxidant Solution on Red Blood Cells Damage] Zhongguo Shi Yan Xue Ye Xue Za Zhi / Zhongguo Bing Li Sheng Li Xue Hui = Journal of Experimental Hematology / Chinese Association of Pathophysiology. (jove.com)
  • Research reported in this press release was supported by the National Institute of General Medical Sciences and National Institute of Child Health and Human Development of the National Institutes of Health, Empire State Stem Cell Fund, Starr Tri-Institutional Stem Cell Initiative, and Neurogenomics. (newswise.com)
  • The human genome may encode over 1000 miRNAs, which are abundant in many mammalian cell types and appear to target about 60% of the genes of humans and other mammals. (wikipedia.org)
  • Biology
  • The study appears in The Journal of Cell Biology . (newswise.com)
  • About The Journal of Cell Biology The Journal of Cell Biology (JCB) is published by The Rockefeller University Press. (newswise.com)
  • We will discuss here stem cell biology, signaling factors that affect these cells, and the potential contribution of these processes to the etiology of neuropsychiatric disorders. (frontiersin.org)
  • Laboratory methods in cell biology : biochemistry and cell culture. (stanford.edu)
  • Cell biology spans among the widest diversity of methods in the biological sciences. (stanford.edu)
  • This new volume of Methods in Cell Biology covers laboratory methods in cell biology, and includes methods that are among the most important and elucidating in the discipline, such as transfection, cell enrichment and magnetic batch separation. (stanford.edu)
  • Covers the most important laboratory methods in cell biology Chapters written by experts in their fields. (stanford.edu)
  • Laboratory methods in cell biology : imaging. (stanford.edu)
  • commonly known
  • While the majority of miRNAs are located within the cell, some miRNAs, commonly known as circulating miRNAs or extracellular miRNAs, have also been found in extracellular environment, including various biological fluids and cell culture media. (wikipedia.org)
  • typically
  • Although there are usually not significant nonneurological medical impairments associated with the syndrome, FXS patients typically display male macroorchidism, macrocephaly with prominent ears and a long, thin face, joint hypermobility, and flat feet [ 4 , 5 , 15 - 17 ]. (hindawi.com)
  • miRNA
  • miRNA research revealed different sets of miRNAs expressed in different cell types and tissues and multiple roles for miRNAs in plant and animal development and in many other biological processes. (wikipedia.org)
  • Other experiments show that a single miRNA species may repress the production of hundreds of proteins, but that this repression often is relatively mild (much less than 2-fold). (wikipedia.org)
  • enzyme
  • Meng Li, a postdoctoral fellow supervised by Zhao and Bhattacharyya, used a technique called CRISPR-Cas9 to precisely position a reporter in the genomes of stem cells derived from individuals with fragile X. The reporter is a highly sensitive luciferase enzyme engineered from the DNA of a deep-sea shrimp Oplophorus gracilirostris . (wisc.edu)
  • these include the master energy sensor AMP-activated protein kinase (AMPK), the O-GlcNAc transferase enzyme (OGT), and the pro-apoptotic kinase ROCK1. (wikipedia.org)
  • research
  • Despite differences in public opinion on this issue, a large majority of the public supports continued research using embryonic stem cells. (aappublications.org)
  • Bio-Rad Laboratories, Inc. (NYSE: BIO and BIOb), a global leader of life science research and clinical diagnostic products, today announced the launch of two new chromatography media for process protein purification: CHT Ceramic Hydroxyapatite XT Media and Nuvia HP-Q Resin. (the-scientist.com)
  • lines
  • There is some recent evidence that hESC lines can be generated from 1 to 2 cells obtained by a biopsy procedure that does not require destruction of the embryo, but this procedure has not obviated the need to continue to derive stem cells in the traditional manner, which results in the destruction of an embryo. (aappublications.org)
  • Compared to published antibody-based or fluorescent protein-based reporter lines, our reporter line is much more sensitive and quantitative, which makes it more amenable for high throughput drug screens," says Zhao. (wisc.edu)