Genes with functions. Medical search. Frequent questions

Dr. Christoph Messner, who was initially responsible for the study at the Francis Crick Institute in London and is now a group leader at the University of Zurich, points out: "To our surprise, the study further revealed that the response of a protein to these mutations depends more on its biophysical properties than its function. (charite.de)
We are investigating the impact of specific classes of gene mutations, such as ATM, BRCA1, and MYBL2 on genome integrity. (birmingham.ac.uk)
Those gene variants, or mutations, also interfered with larger-scale functioning of the brain, interfering with communication among layers and hemispheres, a phenomenon confirmed by previous study of the autistic brain, according to Geschwind. (medicaldaily.com)
Sen said the findings could have particular relevance if future research determines that mutations in exosome genes are linked to skin disorders or other diseases. (scitechdaily.com)
Once mutations in exosome complex genes are identified in either skin diseases or other diseases like pontocerebellar hypoplasia, it may be possible to design drugs targeting these defects. (scitechdaily.com)
Heredity materials Nucleic acids and their structures Mutations and gene functions DNA replication DNA recombination Mutation mechanisms. (slideserve.com)
DNA sequence analyses and reporter gene assays were performed in order to identify candidate gene mutations. (bmj.com)
At least three mutations in the MESP2 gene have been found to cause spondylothoracic dysostosis, a condition characterized by abnormal development of bones in the spine and ribs. (medlineplus.gov)
Mutations in the MESP2 gene prevent the production of any protein or lead to the production of an abnormally short, nonfunctional protein. (medlineplus.gov)
More than 700 mutations in the COL7A1 gene have been identified in people with dystrophic epidermolysis bullosa, a condition that causes the skin to be very fragile and to blister easily. (medlineplus.gov)
The recessive types of dystrophic epidermolysis bullosa (RDEB) result from mutations in both copies of the COL7A1 gene in each cell. (medlineplus.gov)
Most of the COL7A1 gene mutations responsible for RDEB-sev gen result in production of abnormally short pro-α1(VII) chains that cannot form type VII collagen. (medlineplus.gov)
A milder, dominant form of dystrophic epidermolysis bullosa (DDEB) results from mutations in one copy of the COL7A1 gene in each cell. (medlineplus.gov)
It is unclear how COL7A1 gene mutations are associated with an increased risk of a certain cancer called squamous cell carcinoma in people with dystrophic epidermolysis bullosa, particularly RDEB-sev gen. (medlineplus.gov)
Mutations in the COL7A1 gene can also cause a rare condition called epidermolysis bullosa with congenital localized absence of skin (also known as Bart syndrome or aplasia cutis congenita type VI). (medlineplus.gov)
More than 100 mutations in the APOB gene are known to cause familial hypercholesterolemia. (medlineplus.gov)
The presence of two APOB gene mutations results in a more severe form of hypercholesterolemia that usually appears in childhood. (medlineplus.gov)
More than 120 mutations in the APOB gene have been found to cause familial hypobetalipoproteinemia (FHBL), a disorder that impairs the body's ability to absorb and transport fat. (medlineplus.gov)
Most APOB gene mutations that cause FHBL lead to the production of apolipoprotein B that is abnormally short. (medlineplus.gov)
The severity of the condition largely depends on the length of the abnormal apolipoprotein B. Some mutations in the APOB gene lead to the production of a protein that is shorter than apolipoprotein B-100, but longer than apolipoprotein B-48. (medlineplus.gov)

In yeast and other simple organisms, the expression of genes with similar functions tends to be coordinately regulated. (sciencedaily.com)
For this study, researchers at the Wellcome Sanger Institute isolated Tregs from 124 healthy individuals to map how genetic variants regulated the expression of genes and function of the cells. (sanger.ac.uk)
This allowed us to look at the expression of genes in many different ways. (ed.ac.uk)

Their results showed that genes from the same Gene Ontology 'Biological Process' (GO-BP) category - which indicates the physiological function of their encoded protein, such as 'response to temperature' or 'amino acid metabolism' - are transcriptionally co-regulated, independent of the tissue in which they are expressed. (sciencedaily.com)
Catalogs, such as Gene Ontology (GO) and MIPS-FUN, assume that functional classes are organized hierarchically (general functions include more specific functions). (videolectures.net)
In our approach, annotation was provided through Gene Ontology terms by applying multiple Support Vector Machines (SVM) for the classification of correct and false predictions. (biomedcentral.com)
We present a complete automated annotation system that overcomes many of the usual problems by applying a controlled vocabulary of Gene Ontology and an established classification method on large and well-described sequence data sets. (biomedcentral.com)
Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. (nih.gov)
GO Annotations consist of four mandatory components: a gene product, a term from one of the three Gene Ontology (GO) controlled vocabularies (Molecular Function, Biological Process, and Cellular Component), a reference, and an evidence code. (yeastgenome.org)
GO annotations from high-throughput experiments will be assigned only when this type of data is available, and thus may not be assigned to terms from all three controlled vocabularies of the Gene Ontology. (yeastgenome.org)

A European consortium identifies phenotypes for 320 genes, assigning new functions for half. (the-scientist.com)
Researchers have assigned phenotypes to around 150 mouse genes, according to a study published in Nature Genetics this week (July 27). (the-scientist.com)
The combination of the two offers the opportunity to map gene functions and gene networks in vivo at single-cell resolution using cell tracking and quantification of cellular phenotypes. (nih.gov)
Here we present Digital Development (http://www.digital-development.org), a database of cell lineage differentiation with curated phenotypes, cell-specific gene functions and a multiscale model. (nih.gov)
This information includes lineage differentiation phenotypes, cell-specific gene functions, differentiation landscapes and fate choices, and a multiscale model of lineage differentiation. (nih.gov)

The up-regulation of several genes that are known to be responsible for song learning and singing in songbirds suggest a shared evolutionary background of sound perception between vocalizing birds and humans," says Dr. Irma Järvelä, the leader of the study. (sciencedaily.com)
By cross-referencing these data against chromatin activity and gene expression regulation, we were able to narrow down the genes involved in immune disease from thousands to less than a hundred. (sanger.ac.uk)
In addition to regulation of cytoplasmic cytoskeletal dynamics, a little appreciated property of actin signaling is modulation of gene expression so far only reported for non-neuronal cells. (jneurosci.org)
Additionally, this discussion expands its mandate by analyzing the function and regulation of anti-cell death in plant development. (essaywriter.org)
Furthermore, the regulation of expression of the VHb gene in response to changes in environmental conditions has also been investigated. (caltech.edu)
This has provided insights into mechanisms of microaerobic gene regulation, and has enabled the development of oxygen-dependent expression systems for high-level synthesis of recombinant proteins. (caltech.edu)
Furthermore, it was observed that VHb expression is under oxygen-dependent control in E. coli, suggesting that the mechanism of regulation of the gene in Vitreoscilla is also functional in E. coli. (caltech.edu)
Mechanisms responsible for oxygen-dependent regulation act at the level of transcription initiation from two overlapping promoters within the region upstream of the VHb gene. (caltech.edu)
Studies in mouse indicate the 80 aa SMAF1 protein is involved in adipocyte tissue function or regulation. (nih.gov)

The FOXL2 (forkhead box L2) gene is located on chromosome 3 and encodes for forkhead box (FOX) family of transcription factors which play a critical role in various biological processes. (bmj.com)

According to a new study, listening to classical music enhanced the activity of genes involved in dopamine secretion and transport, synaptic neurotransmission, learning and memory, and down-regulated the genes mediating neurodegeneration. (sciencedaily.com)
Listening to music enhanced the activity of genes involved in dopamine secretion and transport, synaptic function, learning and memory. (sciencedaily.com)
The MESP2 protein controls the activity of genes in the Notch pathway, an important pathway in embryonic development. (medlineplus.gov)

In this interview, she talks with Science Communication Intern Maggie Szymanska about how she investigates the genes of farm animals to understand how they control immunity, productivity and adaptation to the environment. (ed.ac.uk)
Their findings shed new light on the animal's complex biology, including insight into the function of genes linked to immunity and meat quality. (ed.ac.uk)

New research data from scientists at USC San Diego suggests that the human exosome maintains progenitor cell function, functioning as a surveillance system in cells to regulate the normal turnover of RNAs as well as to destroy RNAs with errors in them. (scitechdaily.com)
In short," said George L. Sen, PhD, assistant professor of medicine and cellular and molecular medicine, "the exosome functions as a surveillance system in cells to regulate the normal turnover of RNAs as well as to destroy RNAs with errors in them. (scitechdaily.com)
The dominant discovery in these experiments indicates that there is a heterologous expression of certain genes in plants that can regulate cell death. (essaywriter.org)
Introduction regulate choices of expressed genes as part of the macrophage/ neutrophil lineage. (lu.se)

This helps to lay a foundation for researchers working in livestock genetics and genomics and animal breeders to use the genome of sheep and goats to answer important questions about which genes are involved in disease resistance or fertility for example. (ed.ac.uk)
Recently, I started a Fellowship that integrates the sheep and goat gene expression atlas projects with research on small ruminants from African countries, including Ethiopia and Cameroon, working within the Centre for Tropical Livestock Genetics and Health. (ed.ac.uk)
His joint discovery of messenger RNA, and, in more recent years, his development of gene cloning, sequencing and manipulation techniques along with his work for the Human Genome Project have led to his standing as a pioneer in the field of genetics and molecular biology. (webofstories.com)
As a result of the rapid advances in genetics technology and the Human Genome Project, most of the estimated 100,000 genes in humans will be identified by the year 2005 (1). (cdc.gov)

Gene function in mammals can be quickly and reliably predicted using a high-throughput analysis of patterns of RNA expression, according to an article published in Journal of Biology. (sciencedaily.com)
This new, quick, high-throughput method for predicting mammalian gene function merely from the pattern of RNA expression could make tissue specificity based predictions a thing of the past and revolutionize the field of functional genomics. (sciencedaily.com)
However, as high-throughput omic technologies and integrative systems biology efforts have improved our understanding of some biological systems, analyzing and finding meaningful answers within these massive datasets remain extremely challenging, in large part due to the lack of fundamental knowledge of gene function. (energy.gov)
This "bottleneck" in genome understanding could be broken with new, innovative, and transformative experimental tools, datasets, and computation that can define gene function on a massive and high-throughput scale compatible with the pace of DNA sequencing. (energy.gov)
The discussions included the breadth of diverse, high-throughput technologies needed for characterizing genes of unknown function and how the diverse data from these technologies could be integrated with new and existing computational platforms to accurately propagate these annotations to newly sequenced genomes. (energy.gov)

The first in-depth analysis of how genetic variants involved in immune diseases affect the function of regulatory T cells has been conducted by scientists at the Wellcome Sanger Institute and their collaborators. (sanger.ac.uk)
Previous studies have linked genetic variants that affect Treg function to immune diseases such as type-1 diabetes and rheumatoid arthritis. (sanger.ac.uk)
This evidence suggests that identifying how genetic variants modulate Treg function could have important clinical implications. (sanger.ac.uk)
These data were then cross-referenced against variants associated with increased risk of developing immune diseases 1 , in order to hone in on the genes that play pivotal roles in disease pathogenesis. (sanger.ac.uk)
Genetic variants predisposing individuals to immune diseases were linked to a total of 91 genes, 31 of which were specifically impaired in Tregs but not in other immune cell types investigated by the researchers. (sanger.ac.uk)
This study is an important step towards understanding how genetic variants influence the function of Tregs and what role this can play in disease. (sanger.ac.uk)
This research lays a foundation upon which to build our understanding of how the interplay between genetic variants and gene expression causes immune diseases to develop. (sanger.ac.uk)
2022). Immune disease variants modulate gene expression in regulatory CD4+ T cells. (sanger.ac.uk)
Now, investigators from the University of California, Los Angeles, say they've developed a map describing genetic variants - "risk genes" - associated with the development of autism spectrum disorder (ASD), in addition to those implicated in neural disturbances unrelated to the disorder. (medicaldaily.com)
Identifying gene variants that boost risk is only the first step of unraveling a disease," Geschwind said in a statement . (medicaldaily.com)
Investigator Neelroop Parikshak said that the team found gene variants expressing themselves in the developing brain as cells that determined their future roles in the neural circuitry. (medicaldaily.com)
Achromatopsia is caused by disease-causing variants to one of a few genes. (ophthalmologytimes.com)
For example, variants of the ADIPOQ gene (the rs266729 single-nucleotide polymorphism) are associated with obesity and diabetes in various Arab countries. (who.int)

This study aims to understand the function and mechanism of Drosophila Glycine N-acyltransferase (GLYAT) in cell invasion. (sdbonline.org)
Here, we identify and characterize the single Drosophila ortholog of the HB9/MNR2 gene family. (jneurosci.org)
Drosophila genes expressed specifically in all motoneurons have not been described, although a growing number of genes are known to be expressed in subsets of motoneurons. (jneurosci.org)
Although arthropods represent the largest and most diverse animal group, most other Fox genes have not been investigated in detail, not even in the arthropod model species Drosophila melanogaster. (lu.se)

Jan. 13, 2023 When genes are activated and expressed, they show patterns in cells that are similar in type and function across tissues and organs. (sciencedaily.com)
In a presentation on April 23 at the 2023 Association for Research and Vision Ophthalmology Annual Meeting, scientists at regenerative medicine biotech Life Biosciences and Harvard Medical School revealed data showing that the company's gene therapy platform could restore vision loss in primate models of NAION. (fiercebiotech.com)
Genes Dev;37(11-12): 490-504, 2023 06 01. (bvsalud.org)

This section includes genomic Reference Sequences (RefSeqs) from all assemblies on which this gene is annotated, such as RefSeqs for chromosomes and scaffolds (contigs) from both reference and alternate assemblies. (nih.gov)
The Genome Structure Function section of the Institute of Cancer and Genomic Sciences investigates the fundamentals of the active information database that is our genome, in normal and disease states. (birmingham.ac.uk)
The gene encoding the VHb polypeptide was isolated from a Vitreoscilla genomic library. (caltech.edu)

Over the next decade, EUMODIC said it plans to identify roles for 20,000 mouse genes that will be stored in a database of mouse gene functions by the International Mouse Phenotyping Consortium (IMPC). (the-scientist.com)
Sheep have more than 20,000 different genes but not all of these are expressed in each tissue type in the body. (ed.ac.uk)

CUNY established the Center as an institute in 1988 to unite the efforts of CUNY chemists, biologists, and psychologists researching biomolecular structure, interactions and their effects on gene function. (wikipedia.org)
The next step for this research will be to investigate precisely how genes affect Treg function by simulating these interactions in the laboratory, which will provide more context for the development of new therapies. (sanger.ac.uk)
These irregularities in ß cell gene expression may be mediated via SD-contingent interactions with components of chromatin remodelers and the nuclear pore complex . (bvsalud.org)
A widely accepted theory is that human growth, development and disease occurrence depends upon a complicated interaction between inherited genes and interactions with the environment. (cdc.gov)
Dynamical models based upon known interactions between these master genes, such as mutual antagonism and autoregulation, fail to make the system bistable, a desired feature for robust lineage determination. (lu.se)

The study, published in Cell Genomics , identified 91 unique genes that play an important role in immune diseases, such as asthma and Crohn's disease, by influencing how regulatory T cells function. (sanger.ac.uk)
The ultimate goal is to identify genes that drive specific adaptations to a tropical environment, including resistance to tropical diseases or tolerance to drought. (ed.ac.uk)
Now, a new gene therapy has made the first steps on the path to becoming the first-ever treatment for NAION, along with many other aging diseases of the eye. (fiercebiotech.com)
Despite decades of research, the function of many genes remains unknown, limiting our understanding of certain diseases, some of them rare, and hindering the development of new therapies. (charite.de)
The findings provide new insights into the role and importance of exosomes and their targeted gene transcripts, and may help point the way to new drugs or therapies for not just skin diseases, but other disorders in which stem and progenitor cell populations are affected. (scitechdaily.com)

It has been assumed that this strategy couldn't be applied to mammals, but instead that genes expressed in the same tissue are most likely to have a functional relationship, making tissue-specificity the best indicator of function. (sciencedaily.com)
I work on functional genomics in livestock, predominantly looking at how genes are expressed (i.e. switched on and off) in livestock. (ed.ac.uk)
The accompanying academic study used a novel functional magnetic resonance imaging (fMRI, a type of brain scan) mapping approach to separate emerging post-treatment cone signals from existing rod-driven signals in patients, allowing the researchers to pinpoint any changes in visual function, after treatment, directly to the targeted cone photoreceptor system. (ophthalmologytimes.com)
RNA serves as a functional read-out of exactly which genes are expressed in which tissues at any one time. (ed.ac.uk)
Functional assessments demonstrated long-term sustained stabilization of motor function that was clinically meaningful, at ages where functional decline would be expected based on natural history," the investigators note in their abstract. (medscape.com)
DNA Genes are segments of deoxyribonucleic acid (DNA) that contain the code for a specific protein that functions in one or more types of cells in the body or the code for functional ribonucleic. (msdmanuals.com)
Functional investigation of FoxB in Parasteatoda reveals a hitherto unrecognized important function of FoxB upstream of wingless (wg) and decapentaplegic (dpp) in the GRN orchestrating dorsal-ventral limb patterning. (lu.se)

It lays the groundwork for understanding the modulation of gene expression in these cells, providing valuable data on which to build future studies and pursue new treatments. (sanger.ac.uk)

We add 'notes' to the genome sequence to tell us where genes are and what they are doing. (ed.ac.uk)
While each DNA blueprint, or gene, encodes for a different machine or structure, the genome, the collection of DNA wrapped up inside the nucleus, is much more active than a quiet library of neatly stacked blue-prints. (birmingham.ac.uk)
This gene has no protein-coding homolog in any other genome but its presence is supported by evidence from expression and hybridization data. (ubc.ca)
In a case study, the function for Xenopus laevis contig sequences was predicted and the results are publicly available at ftp://genome.dkfz-heidelberg.de/pub/agd/gene_association.agd_Xenopus . (biomedcentral.com)
Genome-wide association studies have found that of the genes identified as being associated with Alzheimer's disease, 60.5% are expressed in microglia," the authors noted. (medscape.com)

In addition to regulating cytoskeletal dynamics in the cytoplasm, actin modulates nuclear gene expression. (jneurosci.org)

Analyzing 5′-upstream non-protein-encoding regions of the human mitochondrial function-associated genes, we speculate that mitochondrial functions could be recovered or improved at a transcriptional level. (intechopen.com)
Genetic studies demonstrated the presence of an oxygen-responsive element (ORE) upstream of the VHb gene. (caltech.edu)
The latter pair inherits the state of its upstream master genes and further reinforces the decision due to several feedback loops, thereby leading to irreversible commitment. (lu.se)

This challenges the conventional view that tissue-specificity is the best predictor of function, and could speed up the quest to understand whole genomes, in humans and other mammals, by decades. (sciencedaily.com)
We examined the extent to which [transcriptional co-expression] is effective for our data, and we show that it yields almost universally superior predictions of gene function in comparison to using information regarding simple tissue specificity or tissue restriction" say the authors. (sciencedaily.com)

The Center for Study of Gene Structure and Function (Gene Center) is a consortium of fifty-three researchers (twelve from minority groups underrepresented in the sciences). (wikipedia.org)
Dr. Markus Ralser, senior author of the study and Director of the Institute of Biochemistry and Einstein Professor of Biochemistry at Charité, explains: "We made use of a collection of yeast strains generated by an international consortium, in which all nonessential genes were missing from at least one strain. (charite.de)

The results of the study also hint at a more complex transcriptional control in mammals, whereby transcription factors may be regulating the transcription of functionally related genes across different tissues. (sciencedaily.com)
Scientists have mapped which genes are turned on and off in the different tissues and organs in a sheep's body. (ed.ac.uk)

Life Biosciences' gene therapy platform works by inducing expression of the transcription factors Oct3/4, Sox2 and Klfr4, or OSK-three of the four Yamanaka factors. (fiercebiotech.com)
They predict that this is because OSK transcription was both protecting the bundles from further degeneration and restoring their function. (fiercebiotech.com)
Sen and colleagues Devendra S. Mistry, PhD, a postdoctoral research fellow, and staff scientist Yifang Chen, MD, PhD, discovered that in the epidermis the exosome functions to target and destroy mRNAs that encode for transcription factors that induce differentiation. (scitechdaily.com)
SRF controls gene transcription of various actin isoforms (e.g. (jneurosci.org)
Thus, herein we provide first evidence that neuronal motility not only depends on cytoplasmic actin dynamics but also on the availability of actin to modulate nuclear functions such as gene transcription. (jneurosci.org)
The MESP2 gene provides instructions for making a transcription factor, which is a protein that attaches (binds) to specific regions of DNA and helps control the activity of particular genes. (medlineplus.gov)
In the vertebrate CNS, HB9/MNR2 transcription factors are specifically expressed in all somatic motoneurons and are necessary to distinguish motoneurons from interneurons, in part by repressing interneuron-specific gene expression. (jneurosci.org)
Forkhead box (Fox) transcription factors evolved early in animal evolution and represent important components of conserved gene regulatory networks (GRNs) during animal development. (lu.se)

The GO terms are organised in structured, controlled vocabularies (ontologies) to describe gene products in terms of their associated biological processes, cellular components and molecular functions. (biomedcentral.com)

The research my group does, by analysing gene expression using our large sheep gene expression atlas and our smaller goat atlas helps to improve the annotation of the genomes of livestock species. (ed.ac.uk)
The proper copying and repair of DNA to maintain the correct sequence and structure of genomes is critical to the proper function of cells, and repair and replication is frequently disrupted in cancers and targeted by cancer treatments. (birmingham.ac.uk)
Indeed, all sequenced genomes, both microbes and plants, contain large numbers of genes of "unknown function" that significantly limit scientists' ability to model, predict, and engineer organisms with enhanced functions relevant to DOE. (energy.gov)
In light of this grand challenge, DOE's Office of Biological and Environmental Research (BER) convened the Breaking the Bottleneck of Genomes: Understanding Gene Function Across Taxa workshop on November 1-2, 2018. (energy.gov)
2019. Breaking the Bottleneck of Genomes: Understanding Gene Function Across Taxa Workshop Report , DOE/SC-0199, U.S. Department of Energy Office of Science. (energy.gov)

Further examination of the annotated orthologs was completed to determine if these were old genes that became inactivated in wookiees. (ubc.ca)

Although such relationships have been identified and extensively studied in the in the area of protein-to-protein interaction (PPI) networks, they have not received much attention in hierarchical protein function prediction. (videolectures.net)
This article demonstrates the benefits (in terms of predictive accuracy) of considering autocorrelation in multi-class gene function prediction. (videolectures.net)
However, the increasing gap between the amount of sequence data available and the time needed for their experimental characterisation demands computational function prediction in complementing manual curation [ 1 - 4 ]. (biomedcentral.com)

In this study, we demonstrate that ß cell -specific functions of NKX2.2 are driven by the highly conserved NK2-specific domain (SD). (bvsalud.org)
In a general gene expression pattern screen for panarthropod Fox genes including the red flour beetle Tribolium castaneum, the pill millipede Glomeris marginata, the common house spider Parasteatoda tepidariorum, and the velvet worm Euperipatoides kanangrensis, we identified a Fox gene with a highly conserved expression pattern along the ventral ectoderm of arthropod and onychophoran limbs. (lu.se)

Repurposing and innovation of genes are further observed within an exodermis regulatory network and illustrate its function. (uu.nl)
The sensitivity and specificity of such testing can now be improved as a result of the recent discovery of the Cystic Fibrosis Transmembrane Conductance Regulatory (CFTR) gene. (cdc.gov)
The discovery of the Cystic Fibrosis Transmembrane Conductance Regulatory (CFTR) gene (5) renewed interest in this possibility, as the sensitivity and specificity of testing could be improved through DNA-based testing. (cdc.gov)

The database stores data from recent systematic studies of cell lineage differentiation in the C. elegans embryo containing ∼ 200 conserved genes, 1400 perturbed cell lineages and 600,000 digitized single cells. (nih.gov)

We present evidence for the de novo origin of the Wookiee wookiee protein-coding gene GLABR since their divergence from humans. (ubc.ca)
Ongoing comparative analysis will provide insights to help us understand gene function across all large animal species, including humans. (ed.ac.uk)
They can change the way that hormones function (called endocrine disruption) in both animals and humans. (cdc.gov)

Studies in fed-batch fermentations demonstrated that under oxygen limitation, the presence of the VHb gene on a multicopy plasmid enhanced the growth and respiratory characteristics of a recombinant E. coli host as compared to equivalent plasmid-carrying and plasmid-free cells. (caltech.edu)
SRP-9001, a single-dose recombinant gene therapy administered as an intravenous infusion, was designed to deliver a trimmed down form of dystrophin to compensate for the deficit. (medscape.com)

Although sharing common risk genes, the disorder and the more generalized "intellectual disability" develop distinctly as genes express themselves, copying data from DNA to RNA, says Daniel Geschwind, a neurologist at UCLA. (medicaldaily.com)
Parikshak emphasized that ASD should be considered distinct on the molecular level from intellectual disability, even though they share common risk genes. (medicaldaily.com)
Genes linked to intellectual disability influence many biological processes in the body," he added. (medicaldaily.com)
Intellectual Disability Intellectual disability is significantly below average intellectual functioning present from birth or early infancy, causing limitations in the ability to conduct normal activities of daily. (msdmanuals.com)

It is funded by the Research Centers in Minority Institutions (RCMI) program of the National Center for Research Resources(NCRR) of the National Institute of Health (NIH) Since its establishment in 1985, the NIH has awarded the Gene Center over $38 million in federal grants. (wikipedia.org)
The Gene Center participates in two primary collaboratory networks: Clinical and Translational Science Center (CTSC) and the RCMI Translational Research Network. (wikipedia.org)
The Gene Center receives RCMI grant funds targeted for "enhancing the research capacity and infrastructure at minority colleges and universities that offer doctorates in health sciences. (wikipedia.org)
These programs give students access to the Gene Center's research laboratories and the resources of their mentors, collaborators and peers. (wikipedia.org)
The primate experiments build upon earlier research that tested Life Biosciences' gene therapy platform in mouse models of glaucoma. (fiercebiotech.com)
The research has the potential to fundamentally improve our understanding of cell biology, providing new insights into gene function in life forms whose cells have a nucleus, which are known as eukaryotes," says Dr. Georg Kustatscher, who contributed to the study by analyzing the large dataset with his research group at the University of Edinburgh. (charite.de)
We discovered gene-related disruption of circuits that connect the autistic brain's layers and hemispheres to each other," explained Geschwind, who leads the university's Center for Autism Research and Treatment. (medicaldaily.com)
At the end of the discussion, significant insights will be developed to paint a picture of the emerging trends in plant development with respect to the topical research on anti-cell death genes. (essaywriter.org)
The workshop was organized around breakout sessions in which participants discussed research challenges associated with gene function discovery and accurate annotation across taxa. (energy.gov)
PHOENIX - Children with Duchenne muscular dystrophy (DMD) treated with the only gene therapy to date to be approved for treatment of disease in the United States show sustained maintenance of motor function after 4 years, compared with untreated patients who showed significant decline over the same time period, new research shows. (medscape.com)
Goal The objective of our research is to understand the molecular and cellular mechanisms that control beta cell maturation and function in the embryonic and adult pancreas. (lu.se)

The team of researchers studied yeast cells to gain a more accurate and detailed picture of the role of genes that were previously not yet associated with specific functions. (charite.de)
Mass spectrometry, and especially specific proteomic techniques developed by Ralser and his team in recent years, helped to determine the amounts of specific proteins present in the individual yeast strains in the absence of all nonessential genes. (charite.de)
But genes tied to autism tend to affect specific functions, such as the connections between brain regions that are essential to many human-specific behaviors, such as speech and language. (medicaldaily.com)
The 2 trials are testing gene therapies targeting specific genes known to be implicated in achromatopsia (the two trials are each targeting a different gene). (ophthalmologytimes.com)
The scale, resolution and richness of biological information presented here facilitate exploration of gene-specific and systems-level mechanisms of lineage differentiation in Metazoans. (nih.gov)
To begin, we hypothesize that distinct morphological features, in other words, hairiness are a result of Wookiee specific protein-coding gene(s). (ubc.ca)
Taking into account specific alpha-helical propensities of Val and Met, this mutation is likely to destabilise the alpha helix of the zinc finger that forms the contact with the DNA duplex, thus affecting the biological function as shown by reporter-gene assays. (bmj.com)
The GO Slim terms listed here are the broader parent terms for the specific terms to which this gene product is annotated, and thus represent the more general processes, functions, and components in which it is involved. (yeastgenome.org)
Major ß cell-specific functions of NKX2.2 are mediated via the NK2-specific domain. (bvsalud.org)

In addition to this shortcoming, the focus of attention is often restricted to a few well-characterized Fox genes such as FoxA (forkhead), FoxC (crocodile) and FoxQ2. (lu.se)

Silencing of Chl1 gene expression has been previously reported to reduce insulin secretion. (lu.se)
Silencing of Chl1 impairs β-cell function by disrupting the activity of key signaling pathways of importance for insulin biosynthesis and secretion. (lu.se)

Conversely, actin signaling regulates neuronal SRF-mediated gene expression. (jneurosci.org)
The CFTR protein also regulates the function of other channels, such as those that transport positively charged particles called sodium ions across cell membranes. (experts123.com)
The MESP2 protein regulates Notch activity by turning on (activating) genes in the Notch pathway, which ultimately block (repress) the activity of the NOTCH1 protein. (medlineplus.gov)

We tested whether this association is modulated by the obesity genes FTO, TMEM18 and NRXN3 . (nature.com)
A common variant in the FTO gene is associated with body mass index and predisposes to childhood and adult obesity. (nature.com)

When I first joined The Roslin Institute, I led the sheep gene expression atlas project, which was a large project that looked at gene expression in all tissues and cell types in sheep. (ed.ac.uk)
Reference: "Progenitor Function in Self-Renewing Human Epidermis is Maintained by the Exosome" by Devendra S. Mistry, Yifang Chen and George L. Sen, 6 July 2012, Cell Stem Cell . (scitechdaily.com)
Therefore, there is need for fundamental distinction between the different types and functions of genes that are involved in anti-cell death in plants. (essaywriter.org)
The main aim of this paper is to review the pathways that lead to cell death in plants with a purpose of identifying the anti-cell death genes. (essaywriter.org)
Using relevant sources of literature, the paper delivers a systematic analysis of fascinating analogies between cell death and plant development with respect to the primary functions of cell death as stipulated in the introductory outline of the discussion. (essaywriter.org)
The expression of key molecules of β-cell function including Insulin, Pdx1, Gck, Glut2, and Insrβ was down-regulated in Chl1 -silenced cells at transcriptional and translational levels. (lu.se)
To selectively analyze the function of innate immune cell-derived IFN-gamma, we generated conditional IFN-gamma(OFF) mice, in which endogenous IFN-gamma expression is disrupted by a loxP flanked gene trap cassette inserted into the first intron of the IFN-gamma gene. (uni-muenchen.de)
This implies that oxygenated VHb influences the activity of a key redox-sensitive cell function, which is affected under hypoxic conditions. (caltech.edu)
On the basis of recent vertebrate studies, the HB9/MNR2 gene family is a prime candidate for a general determinant of somatic motoneuron cell type. (jneurosci.org)
Thus, vertebrate HB9/MNR2 genes are expressed specifically in somatic motoneurons and are essential for distinguishing motoneuron/interneuron cell types. (jneurosci.org)
In addition, the functions of constitutively expressed genes are more conserved than those of cell type/tissue-enriched genes. (uu.nl)
Within the adult ß cell , the SD stimulates ß cell performance through the activation and repression of a subset of NKX2.2-regulated transcripts critical for ß cell function. (bvsalud.org)
However, prior to commitment, it has been cells, it is evident that GATA-1 and PU.1 are able to specify observed that many genes are expressed at intermediate or basal erythroid and myeloid cell fates (see [16] and references therein). (lu.se)
Impact Understanding the mechanisms underlying beta cell development and function will be a prerequisite for cell replacement therapy in diabetes. (lu.se)

Investigators have determined that the genes CD33 and TREM2 are largely responsible for microglia behavior . (medscape.com)
We therefore suggest a new mechanism involving a cofactor that is regulated as well as recruited by one of the master genes to bind to the antagonistic partner that is necessary for bistability and hence switch-like behavior. (lu.se)
From genes to behavior. (bvsalud.org)

The Gene Center also sponsors seminars, colloquia, and annual symposia and funds student researchers at the undergraduate, graduate and postdoctoral levels. (wikipedia.org)
The fifty-three Gene Center researchers are also faculty members at Hunter College in the departments of Biology, Chemistry, Physics, Psychology, Anthropology, Urban Health and Social Work, and Mathematics and Statistics. (wikipedia.org)
The researchers found that visual function was restored nearly back to baseline in the treated primates' eyes, while it remained unchanged in untreated animals. (fiercebiotech.com)
Gene therapy has partly restored the function of the retina's cone receptors in two children who were born completely colorblind, reports a new study led by UCL researchers. (ophthalmologytimes.com)

We investigated the relationship of the microbiome with the neuroanatomy and cognitive function of 281 healthy children in a cross-sectional analysis and demonstrated that differences in gut microbial taxa and gene functions are associated with the size of brain regions and with overall cognitive function. (biorxiv.org)

Most affected individuals have the Glu103Ter mutation in both copies of the MESP2 gene. (medlineplus.gov)
However, a few people with spondylothoracic dysostosis have the Glu103Ter mutation in one copy of the MESP2 gene and either the Leu125Val or the Glu230Ter mutation in the other copy. (medlineplus.gov)
In July, the adeno-associated virus vector (AAV)-based SRP-9001 gene therapy was granted accelerated approval by the US Food and Drug Administration for the treatment of ambulatory pediatric patients aged 4-5 years with DMD with a confirmed mutation in the DMD gene. (medscape.com)

As the nascent brain develops, genes scattered throughout the brain begin to express themselves, to define their future roles, and to interplay with others - not unlike adolescents milling through a locker-lined hallway at school. (medicaldaily.com)
For their study , Geschwind and his colleagues became the first to report mapping groups of autism-risk genes by function, and to identify behavioral roles in early brain development. (medicaldaily.com)

It offers insight into previously unstudied genes and the ways in which proteins are expressed and regulated based on their encoding. (charite.de)
The study revealed general principles governing the expression of proteins, including identifying for thousands of proteins how their function or biophysical properties relate to expression. (charite.de)
Are there any other kinds of gene products except proteins? (slideserve.com)

This report presents the challenges, knowledge gaps, and opportunities for accelerated gene function discovery and accurate gene annotation in four areas: technology, computation, microorganisms, and plants. (energy.gov)

What is the normal function of the CFTR gene? (experts123.com)
The CFTR gene provides instructions for making a protein called the cystic fibrosis transmembrane conductance regulator. (experts123.com)

The nucleotide sequence of the gene and its flanking regions was determined and analyzed. (caltech.edu)

However, the mechanisms by which TFs establish such precise control over gene expression have remained elusive-especially in instances in which a single TF operates in two or more discrete cellular systems. (bvsalud.org)

And what you'd have to do, according to my view, is you'd have to show what is the machine inside the organism that generates intelligence and how do genes affect it? (webofstories.com)

The yeast GO Slim terms are higher level terms that best represent the major S. cerevisiae biological processes, functions, and cellular components. (yeastgenome.org)

The successful generation of beta cells in vitro and regeneration of pancreatic beta cells in vivo will require a thorough understanding of the molecular networks that direct the normal development and function of these cells. (lu.se)

You can't understand how this… how the gene corresponds to the phenotype without understanding the paradigm of construction between them, the construction paradigm. (webofstories.com)
Our results show that the GLABR gene is responsible for robust hair growth in Wookiees, and that inactivation of this gene results in reduced androgenic hair growth or hairless phenotype. (ubc.ca)

Gene abnormalities Chromosomes are structures within cells that contain a person's genes. (msdmanuals.com)

Listening to music represents a complex cognitive function of the human brain, which is known to induce several neuronal and physiological changes. (sciencedaily.com)
Many species, including Eubacterium eligens and Roseburia hominis , were associated with higher cognitive function, while some species such as Ruminococcus gnavus was more commonly found in children with low cognitive scores. (biorxiv.org)
Microbial enzymes involved in the metabolism of neuroactive compounds such as glutamate and GABA, were also associated with structure of the brain, including the first brain regions to develop such as the cerebellum, and with overall cognitive function. (biorxiv.org)

A number of predictions resulting from the SVM analysis were confirmed by results that are already in the literature, and in the case of one gene of unknown function, P1W1, by directed experimentation. (sciencedaily.com)
About half of those genes were previously of unknown function. (the-scientist.com)
The findings also shed light on the function of hundreds of genes whose role was previously unknown. (ed.ac.uk)

Most of the researches concerning Fox genes, however, are on vertebrates and only a relatively low number of studies investigate Fox gene function in invertebrates. (lu.se)

An international group of scientists working with the European Mouse Disease Clinic (EUMODIC) altered 320 genes within individual mouse lines and put the animals through a battery of tests to understand what each gene did. (the-scientist.com)

Even within the time I was working on the sheep atlas project, the cost of the technique we use for measuring gene expression, called RNA-Sequencing, was really decreasing each year, which allowed us to do so much more with the grant we received and meant we could generate a lot more information! (ed.ac.uk)

The way the DNA is structured, wrapped and read is fundamental to how and when the blueprint genes are read. (birmingham.ac.uk)

Mutations20

Expression of ge3

Ontology7

Phenotypes5

Regulation9

Chromosome1

Activity of genes3

Immunity2

Regulate4

Genetics4

High-throughput5

Variants13

Drosophila4

20233

Genomic3

20,0002

Interactions5

Diseases5

Functional7

Modulation of gene ex1

Genome5

Modulates1

Upstream3

Tissue specificity2

Consortium2

Different tissues2

Transcription8

Controlled vocabularies1

Genomes5

Orthologs1

Prediction3

Highly conserved2

Regulatory3

Elegans1

Humans3

Recombinant2

Intellectual disability4

Research11

Specific9

Forkhead1

Secretion2

Regulates3

Obesity2

Cell14

Behavior3

Researchers4

Taxa1

Mutation3

Roles2

Proteins3

Annotation1

CFTR2

Sequence1

Mechanisms1

Organism1

Biological processes1

Vivo1

Phenotype2

Chromosomes1

Cognitive function3

Unknown3

Investigate1

Scientists1

Sheep1

Fundamental1