Research fragile x mental retardation protein and stem cells fragile x syndrome. Medical search. Frequent questions

CGG Repeat Expansion, and Elevated Fmr1 Transcription and Mitochondrial Copy Number in a New Fragile X PM Mouse Embryonic Stem Cell Model. (nih.gov)
Molecular analysis of FMR1 alleles for fragile X syndrome diagnosis and patient stratification. (nih.gov)
Nelson contributed to the human, mouse and fly reference sequences and was a co-discoverer of the mutation that causes Fragile X syndrome as an expansion of a trinucleotide repeat in the FMR1 gene. (wikipedia.org)
Their findings in FMR1 explained the unusual inheritance in Fragile X syndrome and provided the principles for all subsequent unstable repeat disorders such as myotonic dystrophy, Huntington's disease, and amyotrophic lateral sclerosis. (wikipedia.org)
By studying humans, mice, flies and yeast Nelson's research group has characterized the origins of instability in the repeat, the consequences of "premutation" length expansions, and the function of FMR1 and related FXR1 and FXR2. (wikipedia.org)
Nelson and his research group have defined roles for FMR1 and paralogs in circadian rhythm, energy metabolism, neuronal stem cell development, and microRNA function. (wikipedia.org)
Their research results are being used in research to define the role of FMR1 in development and potential treatment for these diseases in adulthood. (wikipedia.org)
Her expertise is in transcriptional and translational gene regulation, particularly of the fragile X ( FMR1 ) gene. (ucdavis.edu)
Specifically, she investigated the clinical manifestations, FMR1 protein and FMR1 mRNA expression in individuals with fragile X syndrome and with FMR1 associated disorders and made the important discovery of gene dysregulation (increased activity) among premutation carriers. (ucdavis.edu)
Fragile X-associated tremor ataxia syndrome (FXTAS) is a neurodegenerative disorder caused by a CGG trinucleotide repeat expansion in the 5′ UTR of the Fragile X gene, FMR1 . (sdbonline.org)
Fragile X syndrome (FXS) is caused by the maternal expansion of an unstable CGG-repeat tract located in the first exon of the FMR1 gene. (frontiersin.org)

In a mouse model of fragile X syndrome, researchers found FMRP plays a key role in regulating adult neurogenesis, the process by which new neurons are generated in the adult brain. (sciencedaily.com)
Geneticists have known for two decades that fragile X syndrome, the most common inherited cause of intellectual disability, is due to the functional loss of fragile X mental retardation protein (FMRP) in the brain. (sciencedaily.com)
FMRP is an RNA-binding protein that regulates the translation of genetic information from specific mRNAs into proteins. (sciencedaily.com)
The researchers found that FMRP regulates the expression of several proteins that are critical for the regulation of adult neural progenitor cells (aNPCs). (sciencedaily.com)
We have determined the solution structure of the complex between an arginine-glycine-rich RGG peptide from the human fragile X mental retardation protein (FMRP) and an in vitro -selected guanine-rich (G-rich) sc1 RNA. (nature.com)
2011. 62:411-29 First published online as a Review in Advance on FMRP, metabotropic glutamate receptor, autism, mental retardation, November 19, 2010 protein synthesis, long-term depression The Annual Review of Medicine is online atmed.annualreviews.org This article's doi: Fragile X syndrome (FXS) is the most common inherited form of men- tal retardation and a leading known cause of autism. (2medicalcare.com)
loss of expression of the fragile X mental retardation protein (FMRP), All rights reserved an RNA-binding protein that negatively regulates protein synthesis. (2medicalcare.com)

In this newly discovered mechanism, only a few dsRNA molecules per cell were needed to silence the targeted gene. (medscape.com)
The discovery of this RNA-based gene-silencing in organisms as diverse as plants, worms and humans suggested that cells must possess evolutionarily conserved machinery that mediates the process. (medscape.com)
With a group of international collaborators, Nelson's research group was able to identify a recurrent, homology-driven deletion in the NEMO gene in Incontinentia pigmenti (IP), an X-linked genetic disease. (wikipedia.org)
To address this important question, we measured gene expression, chromatin accessibility, and transcription factor occupancy in wild-type or DNA methylation-deficient mouse embryonic stem cells following HDAC inhibition. (docslib.org)
The pronounced ad- ditive effect of HDAC inhibition in DNA methylation-deficient cells demonstrates that DNA methylation and histone deacetylation act largely independently to suppress transcription factor binding and gene expression. (docslib.org)
HDAC inhi- Although 60%-80% of CpGs in the genome are methylated, bition, or disruption of the interaction between MBD proteins and DNA methylation is absent or reduced in regions bound by tran- the HDAC-containing complexes, has been shown to alleviate scription factors such as in CpG islands, gene promoters, and distal transcriptional silencing mediated by DNA methylation in report- regulatory elements (Stadler et al. (docslib.org)
In support of this mod- iting HDACs did not recapitulate the effects on gene expression el, in vitro experiments have revealed that 5mC can affect the af- that manifest when DNA methylation is removed (Cameron finity of most DNA-binding proteins that contain CpG et al. (docslib.org)
Today's post is in response to a request from a parent interested in a very rare genetic condition involving the SMC3 ( Structural Maintenance of Chromosomes protein 3) gene , it is cohesinopathy related to Cornelia de Lange syndrome , but really better considered a distinct condition. (epiphanyasd.com)
Kyoto Encyclopedia of Genes and Genomes (KEGG) analyses suggest cotinine was related to methylation of gene pathways controlling neuronal signaling, metabolic regulation, cell signaling and regulation, and cancer. (nih.gov)
fragile X events that result in disease, and suggest ways these mechanisms can be targeted with correc- ing the pathophysiology of several single-gene tive interventions. (2medicalcare.com)
and ( c ) most disorders do not have a single FRAGILE X SYNDROME major genetic cause but are the result of a plethora of individ-ual mutations and gene copy number variations (2). (2medicalcare.com)
Single-gene Fragile X Syndrome disorders such as FXS are therefore particularly valuable as mod- FXS, originally known as Martin-Bell syn- els for more genetically complex disorders such as autism. (2medicalcare.com)
Once a conclusive biological trace has been identified, be it at the gene or protein level, this could be used at any point in development from before birth right through to adulthood. (autismpolicyblog.com)

This discovery provided a molecular basis for the forms of clinical involvement among carriers, including fragile X- associated tremor ataxia syndrome (FXTAS). (ucdavis.edu)
RAN translation at CGG repeats induces ubiquitin proteasome system impairment in models of fragile X-associated tremor ataxia syndrome. (sdbonline.org)

The component technologies being brought together include induced pluripotent stem cells (iPSCs), 3D cell culture (which is beginning to involve vascularization), tissue-chip bioreactors that enable the recreation to tissue-like microenvironments, and the hardware required to operate coupled microphysiological systems in a manner that recapitulates human physiology and its response to drugs and toxins. (selectbiosciences.com)
Looking into the future: Using induced pluripotent stem cells to build two and three dimensional ocular tissue for cell therapy and disease modeling. (nih.gov)
Differentiation of induced pluripotent stem cells (iPSCs) toward hematopoietic progenitor cells (HPCs) raises high hopes for disease modeling, drug screening, and cellular therapy. (biomedcentral.com)

Fragile X syndrome (FXS), the most common monogenic cause of intellectual disability and autism spectrum disorder, has been one of the first neurodevelopmental disorders in which molecular and neuronal mechanisms of disease were identified, leading to the concept of targeting the underlying disease to reverse symptoms. (bvsalud.org)
At 4 months of age, NMR brains reach 90% of adult size with stable neuronal cytostructural protein expression whereas myelin protein expression does not plateau until 9 months of age in NMRs, and synaptic protein expression continues to change throughout the first 3 years of life. (frontiersin.org)
Pathologically, FXTAS is characterized by ubiquitin-positive intranuclear neuronal inclusions, raising the possibility that failure of protein quality control pathways could contribute to disease pathogenesis. (sdbonline.org)
N-terminal variant Asp14Asn of the human p70 S6 Kinase 1 enhances translational signaling causing different effects in developing and mature neuronal cells. (ncbs.res.in)
The nodes and their flanking paranodes were immunolabeled for neuronal cell adhesion molecule (NrCAM, green) and contactin 1 (Cntn1, red), respectively. (sfn.org)

A membrane designed to support the cultivation and differentiation of human nasal epithelial stem cells was inserted into a small chamber on the device and fresh or contaminated air was fed through a tiny channel. (regenerativemedicine.net)

All three mammalian MutL complexes are required for repeat expansion in a mouse cell model of the Fragile X-related disorders. (nih.gov)
A point mutation in the nuclease domain of MLH3 eliminates repeat expansions in a mouse stem cell model of the Fragile X-related disorders. (nih.gov)
Mechanisms of Genome Instability in the Fragile X-Related Disorders. (nih.gov)
Modifiers of Somatic Repeat Instability in Mouse Models of Friedreich Ataxia and the Fragile X-Related Disorders: Implications for the Mechanism of Somatic Expansion in Huntington's Disease. (nih.gov)
During the postdoctoral fellowship, first at the Eleanor Roosevelt Institute in Denver, Colorado, and then at University of Colorado Health Science Center she continued to work on the identification of genes involved in Down Syndrome and started to focus her attention on the molecular basis leading to Fragile X syndrome and autism spectrum disorders. (ucdavis.edu)
In 2000 she moved to the University of California, Davis and focused her research on neurodevelopmental disorders including Fragile X syndrome and associated disorders, autism spectrum disorders and 22q deletion syndrome. (ucdavis.edu)
The main focus of Dr. Tassone's research is to understand the molecular mechanisms and the correlation with clinical involvements of neurodevelopmental and neurodegenerative disorders. (ucdavis.edu)
Her research also focuses on a number of other neurodevelopmental disorders including Autism Spectrum Disorders and 22q11.2 deletion syndrome. (ucdavis.edu)
A larger proportion of cases of mental retardation is related to environmental or social conditions and disorders of unknown etiology. (nih.gov)
4. Studies of genetic/cytogenetic disorders associated with MRDD: research on prenatal diagnosis, particularly non-invasive methods during the early stages of pregnancy on prevalent genetic causes of mental retardation such as Down syndrome or Fragile X syndrome, research on isolation and characterization of fetal cells recovered from maternal circulation, research on rare genetic disorders associated with mental retardation. (nih.gov)
The NICHD is also home to research improving the rehabilitation of individuals when diseases, injuries, or chronic disorders intervene in the developmental process. (nih.gov)
It is the purpose of this RFA to maintain the momentum of discovery and further develop research relevant to Fragile X syndrome and associated disorders. (nih.gov)
Children with severe autism can exhibit mental retardation, and autistic children have an elevated rate of seizure disorders [ 7 ]. (hindawi.com)
Fragile X syndrome (FXS) is a neurodevelopmental disorder characterized by intellectual disability, sensory hypersensitivity, and high incidences of autism spectrum disorders and epilepsy. (karger.com)
The presence of proteinaceous intranuclear inclusions in FXTAS brains at autopsy suggests that it may similarly be subject to age-dependent decrements in protein quality control and thus share aspects of disease pathogenesis with more common neurodegenerative disorders. (sdbonline.org)
Research in medical rehabilitation seeks to develop improved techniques and technologies, with respect to the rehabilitation of individuals with physical disabilities resulting from diseases, disorders, injuries, or birth defects. (nih.gov)
This section welcomes submissions investigating the molecular basis of epigenome regulation in germ cells and prenatal development (e.g., genomic imprinting), genetic and environmental factors contributing to the pathogenesis of epigenetic developmental disorders as well as the clinical consequences are considered if insights are provided in disordered epigenetic regulation in germ cells and/or during early development. (biomedcentral.com)
Understanding the genetic basis of psychiatric and neurological In this review, we describe recent progress in disorders eventually will lead to insights into how the brain func- the study of one of these disorders, fragile X tions differently in these diseases. (2medicalcare.com)
Also, liver abnormalities are associated with this syndrome, Nodular Regenerative Hypoplasia of the liver, although rare, it is one of many manifestations of liver disorders short telomeres can cause. (mdwiki.org)

Nelson's research group has used flies and mice to identify and characterize modifiers that showed that the CGG repeat is necessary and sufficient to affect mammalian neurons. (wikipedia.org)
Research has shown that new neurons generated in the DG are critical for hippocampus-dependent learning and that blocking adult neurogenesis can lead to deficits in learning and memory. (sciencedaily.com)
Inhibitory neurotransmission in the CNS is mediated by populations of neurons that synthesize and release GABA, which exerts its effects through two subtypes of receptor: the ionotropic GABA A receptors and the metabotropic G-protein-coupled GABA B receptors. (karger.com)
Comparative neurotoxicity screening in human iPSC-derived neural stem cells, neurons and astrocytes. (nih.gov)
In neurons, multiple lines of evidence suggest that protein synthesis by Copenhagen University on 06/03/11. (2medicalcare.com)

Reciprocal regulation of spontaneous synaptic vesicle fusion by Fragile X mental retardation protein and group I metabotropic glutamate receptors. (ncbs.res.in)
The left portion of the image represents the rendered volume of fluorescent signals expressed by the cell, gradually blended with its digitized representation of the dendritic arbor's skeleton (blue lines) and synaptic loci (pink spheres). (sfn.org)

Front Cell Dev Biol (2020) 8:482. (nih.gov)

We tracked development from birth to 3 years of age in the slowest maturing organ, the brain, by measuring mass, neural stem cell proliferation, axonal, and dendritic maturation, synaptogenesis and myelination. (frontiersin.org)

Fragile X syndrome (FXS) is the most common monogenic form of inherited intellectual disability and autism spectrum disorder (ASD). (bvsalud.org)
her work has been presented internationally and she has published extensively on the molecular aspect of Fragile X and FXTAS autism and 22q deletion syndrome. (ucdavis.edu)
Fragile X syndrome (FXS) is the most common form of inherited intellectual disability and a leading genetic cause of autism [de Vries et al. (karger.com)
autism logical research with genetic and clinical ﬁnd- spectrum disorder ings can paint a detailed picture of the molecular diseases (1, 2). (2medicalcare.com)
Understanding their patho- syndrome (FXS), and discuss the implications physiology, in turn, will suggest molecular targets for therapeutic of these data for autism and other related neu- interventions. (2medicalcare.com)
However, because it confirms in antivaxers' fragile eggshell minds the central conspiracy theory of the antivaccine movement, namely that there's evidence that vaccines cause autism that is being "covered up" by The Man, the "CDC whistleblower" conspiracy theory had legs. (scienceblogs.com)
A large percentage of parents would almost certainly use a prenatal autism test to make a decision on whether to terminate the pregnancy - if the statistics for Down's syndrome since the introduction of prenatal screening are anything to go by. (autismpolicyblog.com)

From 1984 to 1985, in an intramural National Institutes of Health program at the laboratory of Robert Lazzarini, Nelson studied neuroscience and defined genes encoding neurofilament proteins. (wikipedia.org)
2011). MBD proteins interact with histone deacetylase imprinted genes (Kaneda et al. (docslib.org)
1996), and certain Despite the active recruitment of HDACs to methylated tumor suppressor genes in cancer cells (Toyota et al. (docslib.org)
This then results in over expression of up to a few hundred genes and this then appears to us as a person with Down syndrome. (epiphanyasd.com)
At the 25th ISONG conference in October 2013, Imes presented his work on variants in leptin, leptin receptors, and ghrelin genes and how these variants were associated with protein concentrations and body mass index in weight cyclers (people who undergo repeated losses and regains in body weight). (nih.gov)
Human 15q11-13 is responsible for Prader-Willi syndrome (PWS) and Angelman syndrome (AS) and includes several imprinted genes together with bipartite elements named AS-IC (imprinting center) and PWS-IC. (biomedcentral.com)

The following guideline has combined the relevant research, guidelines and consensus worldwide, and summarized the genetic knowledge and clinical treatment for FXS in order to achieve a standardized diagnosis, treatment and prevention for patients and families affected by this disease. (bvsalud.org)
6107025. Diagnosis of the fragile X syndrome. (wikipedia.org)
Therefore, one of the missions of the MRDD Branch is to support research on the etiology, pathophysiology, epidemiology, diagnosis and evaluation, prevention, and treatment or amelioration of mental retardation. (nih.gov)
The diagnosis of 7q11.23 duplication syndrome is established by detection of a recurrent 1.5- to 1.8-Mb heterozygous duplication of the Williams-Beuren syndrome critical region . (nih.gov)
It is believed that around 90% of pregnancies in England and Wales that receive a diagnosis of Down's syndrome are aborted. (autismpolicyblog.com)

Nelson's contributions have led to the description of Lowe syndrome, and the identification of FMR2 for FRAXE syndrome. (wikipedia.org)
FRAXE-associated mental retardation protein (FMR2) is an RNA-binding protein with high affinity for G-quartet RNA forming structure. (nature.com)

These challenges have prompted the FXS field to organize to build interlocking projects and initiatives to improve consistency of supportive care, make clinical research accessible to families, generate collaborative research on natural history, outcome measures and biomarkers, and create clinical trial consortia and novel trial designs. (bvsalud.org)
Nelson served on the editorial boards of eleven academic journals, including American Journal of Human Genetics, Mammalian Genome, Clinical Genetics (journal), and Genome Research. (wikipedia.org)
UCSD Profiles is managed by the UC San Diego Altman Clinical and Translational Research Institute (ACTRI) . (ucsd.edu)
Research conducted in the MRDDRCs will cover a broad spectrum of scientific approaches ranging from laboratory research on fundamental processes of normal and abnormal development, to clinical and behavioral research in which persons with mental retardation are studied. (nih.gov)
Consequently, applications for MRDDRC Core Grants (P30) should include investigators studying a range of topics in basic and clinical or applied research. (nih.gov)
Institute-supported basic, clinical, and epidemiological research in the reproductive sciences seeks to develop knowledge that enables women and men to overcome problems of infertility, and to regulate their fertility in ways that are safe, effective, and acceptable for various population groups. (nih.gov)
NINR sponsors the tuition-free SGI, which is administered by the Foundation for Advanced Education in the Sciences, to provide nursing graduate students, faculty, and clinicians with a foundation in molecular genetics appropriate for use in research and clinical practice. (nih.gov)

In other words, there must be a collection of cellular proteins that recognize and process dsRNAs, then incorporate these small effector molecules into an enzymatic complex that can bind and cleave complementary (target) mRNAs. (medscape.com)
Much of the institute's research in this area focuses on cellular, molecular, and developmental biology to build understanding of the mechanisms and interactions that guide a single fertilized egg through its development into a multi-cellular, highly organized organism. (nih.gov)
Cytosolic expression of fluorescent protein tdTomato (blue) reveals cellular morphology, while coexpression of YFP-tagged PSD95 (yellow) labels excitatory postsynaptic sites within the same neuron. (sfn.org)
Four new faculty members have recently joined TPCB, bringing world-class research expertise and training opportunities in small-molecule drug discovery and the molecular underpinnings of cellular functions. (triiprograms.org)

The regulation of developmental epigenetic programming is determined by the establishment and maintenance of epigenetic marks in germ cells and in embryonic/foetal life. (biomedcentral.com)

Oct. 10, 2023 Fragile X syndrome, the most common form of inherited intellectual disability, may be unfolding in brain cells even before birth, despite typically going undiagnosed until age 3 or later. (sciencedaily.com)

Cone dystrophies and retinal degeneration from protein structures to biological networks. (irdirc.org)
C3671 Traumatic Injury C99147 Neonatal Research Network Terminology C101036 Retinopathy of Prematurity with Plus Disease Retinopathy of Prematurity with Plus Disease A stage of retinopathy of prematurity characterized by the presence of the following in at least two quadrants around the optic nerve: dilation and tortuosity of major retinal vasculature as a result of increased blood flow. (nih.gov)
This image shows a retinal ganglion cell that was biolistically labeled in an adult mouse. (sfn.org)

Mol Cell (2022 Oct 6) 82:3538-3552.e5. (nih.gov)

Nine NIH Institutes or Centers (ICs) transfer NIH and CDC inventions through licenses to the private sector for further research and development and eventual commercialization. (nih.gov)
The primary objective of the NICHD Mental Retardation and Developmental Disabilities Research Centers (MRDDRC) Program is to provide support and facilities for a cohesive, interdisciplinary program of research and research training in mental retardation and related aspects of human development. (nih.gov)
The original RFA for Fragile X syndrome Research Centers was developed in response to the Children's Health Act of 2000 (H. R. 4365) Section 452E and funded three successful applications. (nih.gov)
The Fragile X Research Centers are intended to stimulate the formation of multidisciplinary, multi-institutional teams with a goal of facilitating the translation of basic research findings related to Fragile X syndrome from "bench-to-bedside-to-community. (nih.gov)
Awards will be made for "Centers-within-Centers" as revisions (formerly called supplements) to existing Mental Retardation and Developmental Disabilities Research Center (MRDDRC) Core Grants (P30). (nih.gov)

Moderate and more severe mental retardation often results from problems that produce profound alterations in brain development and/or function. (nih.gov)

Nelson has served in many advisory boards and committees, including FRAXA Research Foundation Advisory Board (1999-present), National Fragile X Foundation Advisory Board (1999-present), March of Dimes Grants Review Board (2010-2015), Hungtinton Disease Society of America Steering Committee (1999-2010), United States NIH/NICHD Mental Retardation Review Committee (1998-2002), and US DOE Joint Genome Institute Advisory Board (1997-2000). (wikipedia.org)

BACKGROUND: A significant proportion of boys with fragile X syndrome (FXS), the most common known genetic cause of intellectual disability, exhibit challenging behaviors such as aggression and self-injury that can cause significant distress to families. (bvsalud.org)

Given the difficulty of replicating large CGG-repeat tracts, we speculate that very large expanded alleles may be prone to contract in the mitotically proliferating spermatagonial stem cells in men. (frontiersin.org)

This study demonstrates that the CGG repeat expansion responsible for the neurodegenerative disorder FXTAS is capable of interacting genetically with modulators of UPS function in Drosophila and of inducing UPS impairment in human cell lines. (sdbonline.org)

Integrative Analysis Identifies Key Molecular Signatures Underlying Neurodevelopmental Deficits in Fragile X Syndrome. (ucsd.edu)

Microglia, photoreceptor interaction plays an important role in postnatal photoreceptor maturation, with loss of fractalkine-Cx3cr1 signaling leading to an altered distribution of cilium proteins, failure of outer segment elongation, and cone photoreceptor loss. (sfn.org)

C34458 Intracranial Aneurysm C99147 Neonatal Research Network Terminology C101024 Colon Atresia Congenital Atresia of Colon A congenital malformation characterized by the absence of a normal opening in a part of the colon. (nih.gov)
C97171 Congenital Abnormality of the Digestive System C99147 Neonatal Research Network Terminology C101025 Duodenal Atresia Congenital Atresia of Duodenum A congenital malformation characterized by the absence of a normal opening in a part of the duodenum. (nih.gov)
C98828 Atresia of Small Intestine C99147 Neonatal Research Network Terminology C101026 Ileal Atresia Congenital Atresia of Ileum A congenital malformation characterized by the absence of a normal opening in a part of the ileum. (nih.gov)
C98996 Neonatal Disorder C83507 Respiratory Tract Aspiration C99147 Neonatal Research Network Terminology C101029 Atrioventricular Septal Defect Common Atrioventricular Canal A congenital heart malformation characterized by abnormalities in the anatomic structures that relate to the endocardial cushions. (nih.gov)
C101029 Common Atrioventricular Canal C99147 Neonatal Research Network Terminology C101032 Dextrocardia Situs Solitus Dextrocardia, Normal Situs A congenital heart defect in which the heart is located in the right side and the other organs are in their normal position. (nih.gov)
Dyskeratosis congenita ( DKC ),also known as Zinsser-Engman-Cole syndrome, is a rare progressive congenital disorder with a highly variable phenotype . (mdwiki.org)

The degree of impairment associated with mental retardation varies in relation to the cause. (nih.gov)
In Drosophila , ubiquitin proteasome system (UPS) impairment leads to enhancement of CGG-repeat-induced degeneration, whereas overexpression of the chaperone protein HSP70 suppresses this toxicity. (sdbonline.org)
Driving expression of FMRpolyG enhances induction of UPS impairment in cell models, while prevention of RAN translation attenuates UPS impairment in cells and suppresses the genetic interaction with UPS manipulation in Drosophila . (sdbonline.org)
Impairment of protein quality control pathways is a common feature among almost all neurodegenerative conditions, including Alzheimer's disease, Parkinson's disease, polyglutamine diseases and ALS/frontotemporal dementia. (sdbonline.org)
Yet, the exact role that these proteins play in UPS impairment and disease pathogenesis is unclear (Oh, 2015). (sdbonline.org)

Recently, NICHD researchers collaborated with other scientists to discover the mechanism by which viruses gain entry into healthy cells. (nih.gov)
The earlier finding that CGG repeats support RAN translation to produce homopolymeric proteins containing polyglycine and (in cell culture models) polyalanine suggests one possible mechanism by which this might occur. (sdbonline.org)
Downloaded from www.annualreviews.org observations have led to the theory that exaggerated protein synthesisdownstream of Gp1 mGluRs is a core pathogenic mechanism in FXS. (2medicalcare.com)

To determine the timing of expansion during maternal transmission, we examined the effect of maternal age on expansion size and monitored the difference between the repeat size in ova and in two-cell embryos after in vitro fertilization. (frontiersin.org)
In addition to in vivo fertilization there are many new in vitro technologies related to human infertility ( Assisted Reproductive Technology ) and animal production somatic cell nuclear transfer (SCNT) to generate a zygote. (edu.au)
The oligodendrocytes were purified via magnetic activated cell separation and cultured for 10 days in vitro. (sfn.org)

Fragile X syndrome is due to the functional loss of fragile X mental retardation protein in the brain. (sciencedaily.com)
The dysregulation of these proteins, including CDK4 and GSK3β, interferes with an important signaling pathway in the brain called Wnt. (sciencedaily.com)
Selenoenzymes are a family of ~25 genetically unique proteins, several of which have roles in preventing and reversing oxidative damage in brain and endocrine tissues. (hindawi.com)
The integrity of myelin and nodal structures in the cochlea is needed for fast transfer of sound information from the hair cells to the brain. (sfn.org)
A spectrum of brain abnormalities are seen on magnetic resonance imaging, including cerebral atrophy, enlarged ventricles and generous extra-axial cerebral spinal fluid (CSF) spaces, delayed myelination for age, thinning of the corpus callosum, and an abnormally small brain stem. (beds.ac.uk)

Five weeks after seeding the membrane with human nasal epithelial stem cells the researchers could observe the formation of beating cilia. (regenerativemedicine.net)
At even higher formaldehyde concentrations of 3.0 milligrams per cubic meter, however, the researchers observed an unexpected decrease in cilia beating frequency, possibly due to irreversible cell damage caused by the formaldehyde. (regenerativemedicine.net)

David L. Nelson (born 1956) is an American human geneticist, currently an associate director at the Intellectual and Developmental Disabilities Research Center (1995), and professor at the Department of Molecular and Human Genetics at Baylor College of Medicine BCM since 1999. (wikipedia.org)
1965 - States begin mandating the screening of all newborns for phenylketonuria (PKU), a rare disease that if left untreated causes intellectual disability (then called mental retardation), deafness, and seizures. (nih.gov)

This Request for Applications (RFA) seeks applications from institutions that meet the qualifications for a program of mental retardation and developmental disabilities research. (nih.gov)
Center grant applications must include among these topics at least five of the following, focused specifically on mental retardation and developmental disabilities (MRDD): 1. (nih.gov)

Together, these conditions have been referred to as neurodegenerative proteinopathies, implying that failures in protein quality control pathways are a proximal shared event in disease pathogenesis and thus a potentially shared route to effective therapeutics. (sdbonline.org)

Inhibition of translation in living eukaryotic cells by an RNA G-quadruplex motif. (nature.com)

8 Translational Laboratory in Genetic Medicine, Agency for Science, Technology and Research (A*STAR), Singapore. (nih.gov)

Although scientists have shown that adult neurogenesis and learning are altered in conditions such as stress, diabetes, neurological diseases, stroke, and traumatic injury, the link between adult neurogenesis and mental retardation has not been fully explored. (sciencedaily.com)
The most frequent of these diseases is Down syndrome (trisomy 21), which in the majority of cases is caused by missegregation ("nondisjunction") of chromosome 21. (epiphanyasd.com)
They explore the genetic basis for diseases both common, such as cancer and diabetes, and rare, such as fragile X syndrome (the most common cause of inherited mental retardation). (nih.gov)

Institute-sponsored behavioral and social science research in the population field strives to understand the causes and consequences of reproductive behavior and population change. (nih.gov)

It is thought that major solutions to the problems of mental retardation may emerge from multidisciplinary collaboration involving a variety of approaches in the MRDDRCs. (nih.gov)

In her roles as an elected student representative at both Weill Cornell and Rockefeller, she has advocated successfully for increased mental health support services and new diversity, equity, and inclusion programs. (triiprograms.org)

S1-END-seq reveals DNA secondary structures in human cells. (nih.gov)
Common Threads: Aphidicolin-Inducible and Folate-Sensitive Fragile Sites in the Human Genome. (nih.gov)
Both of these factors could lead to the learning and emotional disabilities associated with fragile X syndrome," says Peng Jin, PhD, assistant professor of human genetics in Emory University School of Medicine and one of the paper's senior authors. (sciencedaily.com)
The mission of the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) is to lead research and training to understand human development, improve reproductive health, enhance the lives of children and adolescents, and optimize abilities for all. (nih.gov)
for example a human cell having 45 or 47 chromosomes instead of the usual 46. (epiphanyasd.com)
In people with Down syndrome, the most common human condition due to aneuploidy, there are three copies of all or part of chromosome 21, rather than the usual 2 copies. (epiphanyasd.com)

This image shows mature cochlear heminodes beneath hair cells and nodes of Ranvier within osseous spiral lamina in adult mouse auditory nerve. (sfn.org)

In transfected mammalian cells, CGG repeat expression triggers accumulation of a UPS reporter in a length-dependent fashion. (sdbonline.org)
The mammalian H/ACA ribonucleoprotein contains four protein subunits: dyskerin, Gar1, Nop10, and Nhp2. (mdwiki.org)

For example, DNA methylation is known to regulate transcription factor binding but also to recruit methyl-CpG binding proteins that affect chromatin structure through the activity of histone deacetylase complexes (HDACs). (docslib.org)

Research Scope MRDDRC Core Grants are intended to bring together scientists from a variety of disciplines to work within a Center on the common problems of mental retardation. (nih.gov)
C101029 Common Atrioventricular Canal C99147 Neonatal Research Network Terminology C101031 Complete Atrioventricular Canal Defect Unbalanced Complete Atrioventricular Canal Defect (Unbalanced) Atrioventricular septal defect in which there is usually a single dominant ventricle and a hypoplastic ventricle. (nih.gov)

Bamacan is a component of basement membranes, which are thin, sheet-like structures that separate and support cells in many tissues. (epiphanyasd.com)

Models developed by Nelson's research group have improved the understanding of mechanisms of this disease, including a role for RNA-binding functions such as TDP-43 and alterations in 5-Hydroxymethylcytosine. (wikipedia.org)
By understanding what goes "right," NICHD research provides clues as to what goes "wrong," laying the critical scientific foundation not only for understanding many disease processes, but also for preventing them altogether. (nih.gov)
C2890 Bacterial Disease C99147 Neonatal Research Network Terminology C99000 Orbital Cellulitis Orbital Cellulitis Inflammation of the eye tissues posterior to the orbital septum, and generally secondary to an infection spread from adjacent sinuses. (nih.gov)
[4] [7] This results in the X-linked recessive form of the disease wherein the major protein affected is dyskerin. (mdwiki.org)

Building on this research, this blog offers insights, analysis, and facts about recent events. (autismpolicyblog.com)

Since 2018, he is the director at the Cancer and Cell Biology Ph.D program, and the director of Integrative Molecular and Biomedical Sciences Ph.D since 2015 at BCM. (wikipedia.org)

Anatomy12

Organisms5

Diseases9

Chemicals and Drugs16

Analytical, Diagnostic and Therapeutic Techniques and Equipment3

Psychiatry and Psychology2

Phenomena and Processes14

Information Science2

FMR111

FMRP7

Gene13

Tremor Ataxia Syndrome2

Pluripotent Stem3

Neuronal5

Differentiation1

Disorders19

Neurons5

Synaptic2

20201

Proliferation1

Autism7

Genes6

Diagnosis5

FMR22

Clinical7

Cellular4

Embryonic1

Form of inherited intellectual disability1

Retinal3

20221

Centers5

Severe1

20001

Cause of intellectual disability1

Alleles1

FXTAS1

Deficits1

Cone1

Congenital6

Impairment5

Mechanism3

Vitro3

Brain5

Researchers2

Intellectual2

Developmental2

Pathways1

Inhibition1

Laboratory1

Diseases3

Behavioral1

Multidisciplinary1

Roles1

Human6

Adult1

Mammalian2

Transcription1

Common2

Structures1

Disease4

Insights1

20181