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

Many gene mutations related to the autism spectrum disorders reside in a gene that produces a protein relevant to synapses, or is important for the connections between neurons. (neurosciencenews.com)
This was the first to be identified as the underlying mutations in human genetic disorders. (wikipedia.org)
Effect of mutations in the glucocerebrosidase-1 gene on iPS cell-derived neurons from Parkinson´s disease patients. (fundacionareces.es)
Individuals with FXS have mutations in the X chromosome's FMR1 gene, which encodes the fragile X mental retardation protein, FMRP. (sciencedaily.com)
Most genetic conditions are the result of mutations in the DNA, which alter the instructions for making a given protein. (healthywomen.org)
These mutations can lead to diseases ranging from those we think of as 'genetic diseases,' such as cystic fibrosis or AAT deficiency, to those we think of as degenerative diseases, such as heart disease. (healthywomen.org)
A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP . (nature.com)
While the precise mechanism underlying activation of the ALT pathway is unclear, mutations in the chromatin remodeling protein ATRX, histone chaperone DAXX, and the histone variant H3.3 correlate with ALT status. (oncotarget.com)
Genetic mutations in ATRX, DAXX, and H3.3 have been detected in ALT positive cancers, however, a subset of ALT samples show loss of ATRX or DAXX protein expression or localization without evidence of genetic alterations suggesting additional uncharacterized defects in ATRX/DAXX/H3.3 function. (oncotarget.com)
Germline activating mutations to the PTPN11 gene cause overactivation of the Ras-Mitogen-Activated Protein Kinase pathway. (stanford.edu)
Activating mutations cause Noonan syndrome (NS), a developmental disorder associated with hyperactivity and cognitive weakness in attention, executive function, and memory. (stanford.edu)
Lysosomal function is critical for organismal homeostasis-mutations in genes encoding lysosomal proteins cause severe human disorders known as lysosomal storage diseases, and lysosome dysfunction is implicated in age-associated diseases including cancer, neurodegeneration and metabolic syndrome. (stanford.edu)
The etiology of autism is complex as many genetic syndromes characterized by single-gene mutations (e.g., fragile X syndrome, Rett syndrome, tuberous sclerosis, Timothy syndrome) can result in a phenotype that meets the diagnostic criteria of autism (i.e. 'syndromic autism') [ 1 ]. (biomedcentral.com)

The absence of FMR1 protein (FMRP) causes fragile X syndrome (FXS) and disturbed FMRP function is implicated in several forms of human psychopathology. (neurosciencenews.com)
Early treatment and prevention from having further affected children can be guided by molecular genetic testing of the FMR1 gene. (bvsalud.org)
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)
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)
The RNA-binding protein FMR1 has a key role in the neurodevelopmental disorder fragile X syndrome, but the RNAs targeted by the protein were mostly unknown. (natureasia.com)
Fragile X syndrome is A genetic disorder that is the most common inherited cause of intellectual disability, especially among boys, Fragile X Syndrome is caused by a mutation in the FMR1 gene. (plexusnc.com)
Fragile X syndrome (FXS) is a common hereditary intellectual disability derived from the abnormal duplication of the CGG triplet of the fragile X mental retardation 1 gene ( FMR1 ). (creative-biolabs.com)

Disorders of the autistic spectrum have been associated with hundreds of genetic variations, which have helped in identifying disturbed intracellular signalling pathways and molecular mechanisms typical to autism. (neurosciencenews.com)
cbtabs][cbtab title="MLA"]University of Helsinki"Genetic Background of Autism Connected to Stem Cell Dysfunction. (neurosciencenews.com)
Retrieved December 3, 2018 from https://neurosciencenews.com/asd-stem-cell-120196/[/cbtab][cbtab title="Chicago"]University of Helsinki"Genetic Background of Autism Connected to Stem Cell Dysfunction. (neurosciencenews.com)
Fragile X syndrome (FXS) is the most common monogenic form of inherited intellectual disability and autism spectrum disorder (ASD). (bvsalud.org)
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)
A new study has found that fragile X syndrome, the most common genetic cause of mental retardation and autism, occurs because of a mechanism that shuts off the gene associated with the disease. (editage.co.kr)
Scientists have corrected key symptoms of mental retardation and autism in mice. (sciencedaily.com)
Fragile X syndrome, affecting 100,000 Americans, is the most common inherited cause of mental retardation and autism. (sciencedaily.com)
Researchers at MIT's Picower Institute for Learning and Memory have corrected key symptoms of mental retardation and autism in mice. (sciencedaily.com)
These findings have major therapeutic implications for fragile X syndrome and autism," said study lead author Mark F. Bear, director of the Picower Institute and Picower Professor of Neuroscience at MIT. (sciencedaily.com)
Insights gained by this study suggest novel therapeutic approaches, not only for fragile X but also for autism and mental retardation of unknown origin," Bear said. (sciencedaily.com)
Using neural stem cells as model systems, we are investigating the molecular mechanisms that regulate neuronal development during postnatal period and their implications in human neurodevelopmental disorders such as Rett Syndrome, Autism, and Fragile X syndrome. (wisc.edu)
This research provides further evidence that people with autism and their family members need thorough evaluations for mental health issues. (autismsciencefoundation.org)
Unfortunately, people with autism have a higher rate of unmet mental health needs than other groups 10 . (autismsciencefoundation.org)
These proteins are then what differentiate autism from schizophrenia. (autismsciencefoundation.org)
Another landmark study included genetic information over 1 million people worldwide, including those with 17 different psychiatric (such as autism) and neurological (like Parkinson's Disease) disorders. (autismsciencefoundation.org)
Psychiatric disorders were more similar to each other in genetic profiles than they were to neurological disorders, and while autism showed distinct genetic features, it overlapped with schizophrenia 16 . (autismsciencefoundation.org)
His main projects are focused on the study of the genetic causes of autism, ID, and conditions with segmental or generalized overgrowth. (sc.edu)
He is also characterizing the metabolic profiles of cells from patients with autism, ID, and overgrowth, as well as mental disorders such as schizophrenia, ADD/ADHD, and Tourette syndrome. (sc.edu)
Genetic and environmental influences on structural brain measures in twins with autism spectrum disorder. (stanford.edu)
While models of autism spectrum conditions (ASC) are emerging at the genetic level of analysis, clear models at higher levels of analysis, such as neuroanatomy, are lacking. (biomedcentral.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)
Furthermore, Omics.org indicated that the main focus of omics is on 1) mapping information objects such as genes, proteins and ligands, 2) finding interaction relationships among the objects, 3) engineering the networks and objects to understand and manipulate the regulatory mechanisms and 4) integrating various omes and omics subfields. (scialert.net)
As the name suggests, a genetic test looks at your genes, which consist of DNA (deoxyribonucleic acid). (healthywomen.org)
In addition to studying genes, genetic testing in a broader sense includes biochemical tests for the presence or absence of key proteins that signal aberrant gene function. (healthywomen.org)
The genes on the chromosomes are responsible for making proteins, which direct our biological development and the activity of about 100 trillion cells in our bodies. (healthywomen.org)
Figure 3: Protein locations of private disruptive variants in new candidate NDD risk genes. (nature.com)
We examined: (1) How Ras-MAPK activating variants of PTPN11/SOS1 protein-coding genes affect brain anatomy. (stanford.edu)
The patients were studied genetically for Fragile X syndrome, followed by whole exome sequencing and analysis of intellectual disability-related genes variants. (biomedcentral.com)
ID has a prevalence of about 2-3% of global populations, and males exceed females by 20-30%, likely due to an enrichment of genes on the X-chromosome that are required for the neurodevelopment and the genetic imbalances in X-chromosomes. (biomedcentral.com)

In a study recently published in the Stem Cell Reports journal, researchers from the University of Helsinki examined molecular mechanisms leading to disturbed neuronal network function in autistic spectrum disorders by utilising patient-specific neuronal progenitors differentiated from stem cells induced from blood or fibroblasts of skin. (neurosciencenews.com)
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)
In the fly visual system, for example, photoreceptor axons target the developing optic lobe and secrete the morphogen hedgehog, which induces optic lobe progenitor cells to complete a final cell division and undergo neuronal differentiation (Huang and Kunes, 1996). (wiringthebrain.com)
A study from Drosophila (Eade and Allan, 2009) suggests that retrograde signals, in this case involving bone morphogenetic protein (BMP) signaling, may also be required to maintain expression of neuronal phenotype in connecting cells, demonstrated through an effect on expression of a specific neuropeptide. (wiringthebrain.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)
Until the recent changes in the Diagnostic and Statistical Manual (DSM) (a psychiatric handbook used by doctors, therapists, and others in the U.S. to diagnose mental, behavioral, and developmental disorders), 1 a person could not receive a diagnosis of both ASD and ADHD, so the clinician normally chose one or the other. (autismsciencefoundation.org)
Some genetic tests are used to confirm a preliminary diagnosis based on symptoms. (healthywomen.org)
The data have implications for genetic diagnosis and counseling. (biomedcentral.com)

Identification of a novel inhibitor of mitogen-activated protein kinase kinase. (rndsystems.com)

The RASopathies are genetic syndromes associated with pathogenic variants causing dysregulation of the Ras/mitogen-activated protein kinase (Ras-MAPK) pathway, essential for brain development, and increased risk for neurodevelopmental disorders. (stanford.edu)

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)
Mental retardation, also known as intellectual disability, is a condition characterized by limitations in intellectual functioning and adaptive behavior. (webben.net)
The American Association on Intellectual and Developmental Disabilities (AAIDD) defines mental retardation as "a disability characterized by significant limitations in both intellectual functioning and in adaptive behavior as expressed in conceptual, social, and practical adaptive skills. (webben.net)
The most misunderstood and misrepresented developmental disorder, Intellectual Disability was referred to as mental retardation (MR) in older terminology. (plexusnc.com)
Dr. Boccuto is a clinical geneticist who trained for several years under Professor Neri in Rome with a focus on hereditary cancer, overgrowth syndromes and intellectual disability (ID) syndromes. (sc.edu)
Canavan disease (CD) is a rare neurodegenerative disease with no cure, characterized by progressive damage to nerve cells and loss of white matter in the brain caused by markedly elevated N-acetylaspartic acid (NNA) levels, and ultimately leading to intellectual disability, macrocephaly, spasticity even premature death. (creative-biolabs.com)

They have significantly alleviated a wide range of abnormalities due to fragile X syndrome by altering only a single gene, countering the effects of the fragile X mutation. (sciencedaily.com)
This mutation results in the production of a non-functioning protein that affects brain functioning and development. (plexusnc.com)
A mutation in a ganglioside biosynthetic enzyme, ST3GAL5, results in salt & pepper syndrome, a neurocutaneous disorder with altered glycolipid and glycoprotein glycosylation. (sc.edu)
For your project, Creative Biolabs provides in vitro / in vivo modeling, gene mutation analysis, protein product detection, therapeutic targets, pharmacodynamic and pharmacokinetic assays, and other one-stop solution services. (creative-biolabs.com)
Thanks to our excellent research team, Creative Biolabs provides a series of one-stop solutions including experimental model establishment, gene mutation detection, protein product identification, and drug development and efficacy testing to our clients all over the world. (creative-biolabs.com)
Creative Biolabs offers flexible and robust one-stop MPS IV solutions, including but not limited to gene mutation detection, GAG protein/molecular testing, disease model construction, and drug development. (creative-biolabs.com)

This project aims to develop a revolutionary screening platform that will allow for the rapid isolation of hundreds of high affinity and specificity synthetic ligands for proteins in a highly parallel fashion. (nih.gov)
Receptors and Neurotransmitters of the CNS receptors Receptors Receptors are proteins located either on the surface of or within a cell that can bind to signaling molecules known as ligands (e.g., hormones) and cause some type of response within the cell. (lecturio.com)

The L1CAM gene (MIM No. 308840) encodes a neural cell adhesion molecule involved in cell adhesion dynamics and the generation of transmembrane signals at tyrosine kinase receptors. (biomedcentral.com)

The research in our laboratory focuses on understanding the molecular mechanisms that regulate neural stem cells and neurodevelopment with the goal of applying this knowledge in the treatment of neurological disorders and injuries. (wisc.edu)
Faculty in Medical Genetics are at the forefront of their fields employing cutting edge genetic, epigenetic, genomic and bioinformatic methodologies to gain insight into diseases such as cancer, diabetes, obesity, neurodegenerative and neurological disorders, and other genetic diseases. (ubc.ca)
Genetic testing is used to confirm the presence of genetic diseases, as well as to measure your risk of developing a disease or of passing along a genetic disorder to a child.Today, there are hundreds of genetic tests, some of them for relatively common disorders, such as cystic fibrosis, and others for very rare diseases. (healthywomen.org)
Diagnostic and Statistical Manual of Mental Disorders 5th edn. (nature.com)

Tet proteins regulate gene expression by removing methyl groups from DNA bases. (natureasia.com)
dGLYAT was found to regulate Gadd45 -mediated JNK pathway activation and cell invasion. (sdbonline.org)
A number of studies have shown that incoming axons can regulate the proliferation and differentiation of their synaptic target cells. (wiringthebrain.com)
Moreover, hypoxia or osmotic stress up-regulate BPGM in kidney cells in vitro. (charite.de)

Characterization and reversal of synaptic defects in the amygdala in a mouse model of fragile X syndrome. (colorado.edu)
The research team found that a 50 percent reduction in mGluR5 fixed multiple defects in the fragile X mice. (sciencedaily.com)

Dysregulation of mTOR signaling in fragile X syndrome. (colorado.edu)

Fragile X is a disorder of excess-excess synaptic connectivity, protein synthesis, memory extinction, body growth, excitability-and remarkably, all these excesses can be reduced by reducing mGluR5," said Bear, a Howard Hughes Medical Institute investigator. (sciencedaily.com)
The autosomal recessive disorder Ataxia-Telangiectasia is caused by dysfunction of the stress response protein ATM. (preprints.org)
First, looking at the genetic profile of brain tissue obtained from the cortex of individuals affected by ASD, schizophrenia, bipolar depression and major depressive disorder, scientists revealed overlap in genetic expression. (autismsciencefoundation.org)
Down syndrome or Trisomy 21 is a genetic disorder caused by the presence of an extra chromosome 21 in a person's cells. (plexusnc.com)
Perhaps the most mysterious developmental disorder , Velocardiofacial Syndrome is a genetic disorder caused by the deletion of a small piece of chromosome 22. (plexusnc.com)
But others measure your risk of developing a disease, even if you are healthy now (presymptomatic testing), or determine whether you and your partner are at risk of having a child with a genetic disorder (carrier screening). (healthywomen.org)
Maroteaux-Lamy Syndrome, also known as mucopolysaccharidosis type VI (MPS VI), is an autosomal recessive genetic disorder caused by deficient lysosomal enzyme activity. (creative-biolabs.com)
Morquio syndrome, also known as Mucopolysaccharidosis Type IV (MPS IV), is an autosomal recessive metabolic disorder caused by the accumulation of glycosaminoglycans (GAG), and its main feature is lysosomal storage caused by keratan sulfate. (creative-biolabs.com)

Neural stem cells in the postnatal brain have significant roles in both normal brain functions, such as learning and memory and the brain's response to injuries. (wisc.edu)
My laboratory is investigating the mechanisms governing the behaviors and functions of neural stem cells in both healthy conditions and in neurological diseases. (wisc.edu)

The ZDHHC9 gene (MIM No. 300646) encodes a palmitoyl-transferase that adds palmitate onto various protein substrates. (biomedcentral.com)

Morquio syndrome (mucopolysaccharidosis type IV [MPS IV]) is a rare lysosomal storage disease (LSD) that is inherited in an autosomal-recessive fashion. (medscape.com)
We apply this knowledge to understand how lysosomal dysfunction leads to human diseases including neurodegeneration, cancer and metabolic syndrome. (stanford.edu)

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)

Although most individuals with Morquio syndrome appear normal at birth, skeletal abnormalities often develop within the first year of life. (medscape.com)

2021). However, the results reported here and those reported by others have not shown that endogenous RA is normally required for synaptic plasticity (or any other nongenomic effect) as there are no reports of genetic loss-of-function studies that remove endogenous RA in adult brain. (preprints.org)

Importantly, a recent study suggests that the influence of this interplay also extends to the maintenance of cell fate in the adult nervous system. (wiringthebrain.com)

Morquio syndrome is characterized by a unique skeletal dysplasia with excessive KS and/or C6S accumulation. (medscape.com)
[ 5 ] In 1965, McKusick et al classified Hurler and Hunter syndromes, as well as Morquio syndrome, as hereditary acid mucopolysaccharidoses (MPS I to MPS V). MPS V was referred to as Scheie Syndrome. (medscape.com)
[ 14 ] Morquio syndrome has been differentiated into Morquio A syndrome and Morquio B syndrome. (medscape.com)

Specifically, we will use mice where the Bax pro-apoptotic gene has been deleted specifically from adult-born granule cells, as well as pharmacological strategies to increase neurogenesis in the dentate gyrus of aged mice and test whether such manipulations improve both cognitive discrimination and pattern separation. (neurotree.org)
Anaemia is a chief determinant of global ill health, contributing to cognitive impairment, growth retardation and impaired physical capacity. (natureasia.com)
We collected structural brain MRI and cognitive-behavioral data from 40 pre-pubertal children with Noonan syndrome (NS), caused by PTPN11 (n = 30) or SOS1 (n = 10) variants (age 8.53 ± 2.15, 25 females), and compared them to 40 age- and sex-matched typically developing controls (9.24 ± 1.62, 27 females). (stanford.edu)

There is currently no treatment or therapy for fragile X syndrome, whose symptoms include mental retardation, epilepsy, and abnormal body growth. (sciencedaily.com)
Abnormal spines have long been associated with various forms of human mental retardation. (sciencedaily.com)

We show that intracellular calcium responses to depolarization are augmented in neural progenitors derived from human induced pluripotent stem cells and mouse brain with FXS. (neurosciencenews.com)
Using stem cells from donated human embryos that tested positive for fragile X syndrome, the study's reasearchers found that early on in fetal development, messenger RNA begins sticking itself onto the DNA of the fragile X syndrome gene, thus making it inactive and unable to produce a protein crucial to the transmission of signals between brain cells. (editage.co.kr)
Brains represent information in the patterns of electrical discharge that are distributed across vast networks of brain cells to signal what we are experiencing, planning and thinking. (neurotree.org)
In the effort to understand the fundamental neural code, we will record electrical activity within two networks of brain cells from freely moving rats that are using two streams of information to locate themselves on a rotating carousel-like arena. (neurotree.org)
DESCRIPTION (provided by applicant): In the mammalian adult brain, there are two regions where stem cells continuously give rise to new neurons, a process termed neurogenesis: the subventricular zone and the subgranular zone of the dentate gyrus. (neurotree.org)
Validation experiments with stressors were performed in human neuroblastoma cells, where ATM localized only to cytoplasm, similar to brain. (preprints.org)
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)
Genetic causes include Down syndrome, fragile X syndrome, and phenylketonuria, while non-genetic causes can be prenatal exposure to alcohol and drugs, premature birth, lack of oxygen to the brain, or infections. (webben.net)
The levels of catalase (CAT) and glutathione (GSH) were measured in PC12 cells and Drosophila brain tissue. (sdbonline.org)
GSOs also mitigated the deleterious effects of GLU on the mitochondrial membrane potential and Cyt C release, thus alleviating mitochondrial dysfunction, and increased GSH levels and CAT activity in both cells and Drosophila brain tissue. (sdbonline.org)
They also protect the brain because when estrogen levels decrease, we can experience some mental issues, such as sleep disturbances, mood changes, and other problems related to brain function. (myivfanswers.com)
and other structures in the brain stem. (lecturio.com)

These words are required for proper explanation of the newly gained knowledge, models, conceptions and views associated with the scientific efforts to investigate and understand the mechanisms of various genetic phenomena at the molecular level. (scialert.net)
Based on these numbers, it is not surprising that several psychiatric issues, including ASD, all share common underlying genetic mechanisms. (autismsciencefoundation.org)
Despite extensive genetic and biological research, significant controversy surrounds our understanding of the specific mechanisms of their pathogenesis. (mdpi.com)
A better understanding of how these novel basal cells communicate with adjacent cells will help define disease mechanisms and suggest new diagnostic and therapeutic strategies for male infertility, and diseases of the lung, including asthma, chronic obstructive pulmonary disease (COPD) and cystic fibrosis (CF). (nih.gov)

During development, stem cells and resulting progenitor cells are responsible for generating all the tissues and cells of an organism. (wisc.edu)

In the adult, stem cells exist in many tissues throughout life and may play critical roles in physiological functions and tissue regeneration. (wisc.edu)
The term "oncotarget" encompasses all molecules, pathways, cellular functions, cell types, and even tissues that can be viewed as targets relevant to cancer as well as other diseases. (oncotarget.com)
It must be noted that the 3 cell lines of embryo tissues being used did not come from single fetal tissue culture attempts. (thegiftoflife.info)

We also study how these pathways go awry in human diseases such as cancer, neurodegeneration and metabolic syndrome, in order to engineer new therapeutic modalities. (stanford.edu)

G-quadraplexes play key roles in a number of other diseases like ALS, Fragile X syndrome, Fanconi's anemia and Friedrich's ataxia. (anti-agingfirewalls.com)
In the case of diseases like heart disease, asthma or diabetes, a combination of factors-some genetic, some related to environmental or lifestyle-may work together to trigger the disease. (healthywomen.org)
By developing novel tools and harnessing the power of metabolomics, proteomics and functional genomics, our lab will define 1) how the lysosome communicates with other cellular compartments to fulfill the metabolic demands of the cell under various metabolic states, 2) and how its dysfunction leads to rare and common human diseases. (stanford.edu)

The findings support the theory that many of FXS's psychiatric and neurological symptoms-learning disabilities, autistic behavior, childhood epilepsy- stem from too much activation of one of the brain's chief network managers-the metabotropic glutamate receptor mGluR5. (sciencedaily.com)
Language is a complex communicative behavior unique to humans, and its genetic basis is poorly understood. (comparative-cognition-and-behavior-reviews.org)
For patient education resources, see teh Senior Health Center and Mental Health and Behavior Center. (medscape.com)

It can lead to epilepsy, hyperactivity, and mental retardation. (creative-biolabs.com)

Heart muscle cells die en masse after injury, yet the adult mammalian heart retains little capacity to regenerate them. (natureasia.com)
Skeletal muscle growth and regeneration involves the activity of resident adult stem cells, namely satellite cells (SC). (sdbonline.org)

Open access research for "Increased Calcium Influx through L-type Calcium Channels in Human and Mouse Neural Progenitors Lacking Fragile X Mental Retardation Protein" by Claudia Danesi, Venkat Swaroop Achuta, Padraic Corcoran, Ulla-Kaisa Peteri, Giorgio Turconi, Nobuaki Matsui, Ilyas Albayrak, Veronika Rezov, Anders Isaksson, and Maija L. Castrén in Stem Cell Reports . (neurosciencenews.com)
Helps maintain human pluripotent stem cells in undifferentiated state. (rndsystems.com)
Protein kinase C regulates human pluripotent stem cell self-renewal. (rndsystems.com)
Next, speakers considered how changes to developmental processes might underlie these anatomical differences, with a focus on neural stem and progenitor populations, human-specific developmental processes, and the search for genomic events that may underlie the developmental and morphological differences that distinguish modern humans. (biologists.com)
Here, we review these recent findings that implicate genetic factors in human speech. (comparative-cognition-and-behavior-reviews.org)
We therefore discuss how songbird studies have contributed to the current understanding of genetic factors that impact human speech, and support the continued use of this animal model for such studies in the future. (comparative-cognition-and-behavior-reviews.org)
The regulator of calcineurin (RCAN) was first reported as a novel gene called DSCR1, encoded in a region termed the Down syndrome critical region (DSCR) of human chromosome 21. (molcells.org)

This role explains T-cell dysfunction and tumor risk. (preprints.org)
Cell invasion is a crucial step of tumor metastasis , finding new regulators of which offers potential drug targets for cancer therapy. (sdbonline.org)
We show that in the nephron BPGM is constitutively expressed, and up-regulated under conditions like acute kidney injury, clear cell renal carcinoma, or knock-out of the tumor suppressor von Hippel Lindau protein (VHL). (charite.de)

Most people have 23 pairs of chromosomes in the nucleus of each cell. (healthywomen.org)

This activity may be a facilitating step in turning on the cell-division pathway that produces sperm and egg cells. (natureasia.com)
Firstly, loss of dGLYAT suppressed scrib depletion- or Egr overexpression-induced JNK pathway activation and invasive cell migration. (sdbonline.org)
The majority of cancer cells rely on reactivation of the enzyme telomerase or activation of the Alternative Lengthening of Telomeres pathway (ALT) to promote telomere elongation. (oncotarget.com)

Stem cells have two fundamental properties: self-renewal and multipotency. (wisc.edu)
Regulatory microRNA sequences may stimulate self-renewal of these muscle cells. (natureasia.com)

A paper recently published by eLife on forebrain cortical synaptic plasticity reports that retinoic acid (RA) alters synaptopodin-dependent metaplasticity in mouse dentate granule cells (Lenz et al. (preprints.org)

In this communication, we demonstrate that lack of breastfeeding is highly associated with ASD development in children with genetic susceptibility. (intechopen.com)

Recently, Dr. Breton and colleagues made a paradigm-shifting discovery that these "so called" basal cells actually extend slender body projections that reach the luminal side of the epithelia and control their function via crosstalk with other epithelial cells. (nih.gov)

In Drosophila with depleted RACK1 in all muscle cells or, specifically, in SC lineage resulted in a delayed recovery of skeletal muscle after physical damage as well as the low presence of active SC in the wound area. (sdbonline.org)

RCAN1 is upregulated by stress factors, such as protein aggregates, elevated intracellular calcium, oxidative stress, and glucocorticoid, prevents excess and dangerous over-activation of calcineurin. (molcells.org)

Summary: Researchers report functional alterations in L-type calcium channels were detected in models of Fragile X syndrome. (neurosciencenews.com)
Functional changes in the voltage-dependent L-type calcium channels were detected in fragile X syndrome (FraX), the disease model used in the study. (neurosciencenews.com)
During last two decades, active research works in molecular biology have introduced great achievements in the new basic and applied knowledge of molecular biotechnology in a rationally motivated process for understanding of various structural and functional aspects of genetic materials. (scialert.net)

In the nucleus of proliferating cells, ATM senses DNA double-strand breaks and coordinates their repair. (preprints.org)
Hádinger N, Bősz E, Tóth B, Vantomme G, Lüthi A, Acsády L. Region-selective control of the thalamic reticular nucleus via cortical layer 5 pyramidal cells. (unil.ch)

FraX is the most common cause of genetic mental retardation and a variant of the autistic spectrum. (neurosciencenews.com)

[ 11 ] In 1976, O'Brien et al reported a patient with a mild clinical status similar to Morquio A syndrome. (medscape.com)

Specificity and mechanism of action of some commonly used protein kinase inhibitors. (rndsystems.com)

Those with schizophrenia and bipolar depression express different isoforms, or end products of gene expression, which markedly changes what proteins are made 15 . (autismsciencefoundation.org)

It is increasingly accepted that metabolic changes in cancer cells can drive tumour formation. (natureasia.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)
A current paradigm in biology is that basal cells present in the epithelial lining of some organs never come into contact with the inner (luminal) side of the organ. (nih.gov)

Many physiological and pathophysiological conditions are attributed to the lack of oxygen, forcing cells to switch their energy metabolism and find a new balance between energy production and consumption. (charite.de)

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)
A main focus of my lab research is to understand the epigenetic basis of cell fate specification and neurodevelopment. (wisc.edu)
2 Eli and Edythe Broad Center of Regeneration Medicine and Stem Cell Research, University of California, San Francisco, 35 Medical Center Way, San Francisco, CA 94143, USA. (biologists.com)
Research in the field of mental retardation is ongoing, with promising advances and innovative interventions emerging. (webben.net)
One area of research focuses on the use of gene therapy to treat genetic causes of mental retardation, such as Down syndrome. (webben.net)
Dr. Boccuto is currently an assistant research scientist at the JC Self Research Institute of the Greenwood Genetic Center. (sc.edu)
To accelerate research in this field, new protein capture tools for the detection and identification of specific proteins are needed. (nih.gov)
This proposal presents an innovative approach for screening and selecting a new class of highly stable protein capture reagents and developing a new versatile approach for ligand immobilization that together enable rapid production of cyclotide-based microarrays for proteomics research. (nih.gov)

The maintenance of their "stemness" state and commitment to differentiation are tightly controlled by both intrinsic genetic and epigenetic programs and extrinsic stimuli. (wisc.edu)

Effect confirmation in SH-SY5Y cells occurred after ATM depletion and osmotic stress better than nutrient / oxidative stress, not after ATM kinase inhibition or DNA stressor bleomycin. (preprints.org)

These preadaptations are likely genetically encoded, which suggests that despite the distant relationships between vocal learners, there are some common genetic factors. (comparative-cognition-and-behavior-reviews.org)
Fragile X syndrome is the most common and most studied XLID syndrome. (biomedcentral.com)

Furthermore, GSOs protected cells against GLU-induced apoptosis by reducing the expression of the mitochondrial apoptosis-associated Bcl-2 family effector proteins and protected cells from GLU-induced oxidative damage by increasing the nuclear translocation of Nrf2 and HO-1 expression. (sdbonline.org)

DNA is a chemical message to produce a protein, which has a specific function in the body. (healthywomen.org)

Anatomy12

Organisms5

Diseases9

Chemicals and Drugs16

Analytical, Diagnostic and Therapeutic Techniques and Equipment3

Psychiatry and Psychology2

Phenomena and Processes14

Information Science2

Mutations13

FMR18

Autism21

Genes9

Neuronal4

Diagnosis5

Mitogen-activa1

Pathogenic variants1

Intellectual6

Mutation6

Ligands2

Receptors1

Disorders4

Regulate4

Defects2

Dysregulation1

Disorder8

Neural stem2

Encodes1

Lysosomal2

20001

Abnormalities1

20211

Nervous System1

Morquio Syndrome3

Cognitive3

Abnormal2

Brain12

Mechanisms4

Progenitor cells1

Tissues3

Therapeutic1

Diseases3

Behavior3

Hyperactivity1

Adult2

Human7

Tumor3

Chromosomes1

Pathway3

Self-renewal2

Granule cells1

Susceptibility1

Epithelial Cells1

Skeletal muscle1

Intracellular1

Functional3

Nucleus2

Variant1

Clinical1

Specificity1

Schizophrenia1

Metabolic1

Biology2

Energy metabolism1

Research8

Epigenetic1

Osmotic stress1

Common2

Oxidative1

Produce a protein1