Function genes. 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)
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)
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 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)
ALL cancers have lots of additional changes, the so-called 'passenger' mutations, that may contribute to the cancer, but are not the main genes. (cancerquest.org)
[ 3 ] Loss of function mutations in this gene are implicated in pediatric retinoblastoma. (medscape.com)
Mutations that disrupt PTEN function define a condition called PTEN hamartoma syndrome, which also includes Cowden syndrome , Bannayan-Riley-Ruvalcaba syndrome, and Proteus/Proteus-like syndrome. (medscape.com)
ABSTRACT A case-control study aimed to determine the prevalence of C282Y, H63D and S65C mutations of the HFE gene in -thalassaemia carriers and investigate their influence on iron absorption. (who.int)
The iron status in these subjects was studied and correlated with the HFE gene mutations. (who.int)
Our study has shown that the HFE gene mutations are common in Egypt among -thalassaemia carriers compared with normal controls. (who.int)
Notre étude a démontré que les mutations du gène HFE sont fréquentes en Égypte chez les porteurs d'une -thalassémie par rapport aux sujets témoins. (who.int)

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)

This is in contrast with tumor suppressor genes which must BOTH be defective to lead to abnormal cell division. (cancerquest.org)
Driver events in pediatric malignancies can occur through loss of function in tumor suppressor genes or gain of function in proto-oncogenes. (medscape.com)
Tumor suppressor genes encode proteins that normally provide negative control of cell proliferation. (medscape.com)

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)
The CFTR gene provides instructions for making a protein called the cystic fibrosis transmembrane conductance regulator. (experts123.com)
This protein functions as a channel across the membrane of cells that produce mucus, sweat, saliva, tears, and digestive enzymes. (experts123.com)
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)
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)
We present evidence for the de novo origin of the Wookiee wookiee protein-coding gene GLABR since their divergence from humans. (ubc.ca)
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)
To begin, we hypothesize that distinct morphological features, in other words, hairiness are a result of Wookiee specific protein-coding gene(s). (ubc.ca)
For example, the current Ensembl version proposes a Chiss ortholog of BLU31 (gene responsible for their characteristic blue skin), but further investigation concluded that the "gene" lacks possible introns and thus cannot produce any resemblance of a protein in wookiee. (ubc.ca)
The COL7A1 gene provides instructions for making a protein called pro-α1(VII) chain that is used to assemble a larger protein called type VII collagen. (medlineplus.gov)
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)
The MESP2 protein controls the activity of genes in the Notch pathway, an important pathway in embryonic development. (medlineplus.gov)
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)
The APOB gene provides instructions for making two versions of the apolipoprotein B protein, a short version called apolipoprotein B-48 and a longer version known as apolipoprotein B-100. (medlineplus.gov)
Protein coding regions are also methylated but its establishment, maintenance, possible function and evolutionary consequences remain unclear. (nature.com)
Studies in mouse indicate the 80 aa SMAF1 protein is involved in adipocyte tissue function or regulation. (nih.gov)
Genes whose protein products stimulate or enhance the division and viability of cells. (cancerquest.org)
Genes whose protein products can directly or indirectly prevent cell division or lead to cell death. (cancerquest.org)
As an example TP 53 refers to the gene and p53 refers to the protein. (cancerquest.org)
RB1 encodes the protein pRB and was the first tumor suppressor gene to be molecularly defined. (medscape.com)
PTEN encodes a protein kinase of the same name and functions as a tumor suppressor through regulation of cell proliferation. (medscape.com)
Genes 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)

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)
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)

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)
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)
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)

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)

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)

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)

These events are dependent on the proper levels of transcription and translation of certain genes. (cancerquest.org)

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)
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 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)
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)
pRB functions as a negative regulatory transcription factor during the G1 to S phase cell cycle transition. (medscape.com)

We add 'notes' to the genome sequence to tell us where genes are and what they are doing. (ed.ac.uk)
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)
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)
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)
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)
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)
Of the 30,000 or so genes that are currently thought to exist in the human genome , there is a small subset that seems to be particularly important in the prevention, development, and progression of cancer. (cancerquest.org)
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)

Conversely, actin signaling regulates neuronal SRF-mediated gene expression. (jneurosci.org)
Although we cannot discern whether gbM regulates gene expression or vice versa, or if other molecular mechanisms play a role in facilitating transcriptome responsiveness, our findings point to the existence of a relationship between gene responsiveness and gbM patterns in marine plants. (nature.com)

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)

Long-Term Gestational Hypoxia Modulates Expression of Key Genes Governing Mitochondrial Function in the Perirenal Adipose of the Late Gestation Sheep Fetus. (bvsalud.org)
Although there is an apparent increase in genes supporting mitochondrial function and adaptive thermogenesis in response to LTH, there does not appear to be an increased mitochondrial biogenesis per se. (bvsalud.org)

The normal versions of genes in the first group are called proto-oncogenes. (cancerquest.org)
Numerous genes have been identified as proto-oncogenes. (cancerquest.org)
The proto-oncogenes that have been identified so far have many different functions in the cell. (cancerquest.org)

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)

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)

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)
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)
Previous studies have linked genetic variants that affect Treg function to immune diseases such as type-1 diabetes and rheumatoid arthritis. (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 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)
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)

HER2/neu (also called ERB B2 ) is the gene that encodes the human epidermal growth factor receptor type 2. (cancerquest.org)

This evidence suggests that identifying how genetic variants modulate Treg function could have important clinical implications. (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)
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)

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

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)
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)

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)
Although the causes and potential functional consequences of gbM for gene expression are not fully understood 22 , genic CG methylation was reported to be associated with gene expression in both plants and animals 17 . (nature.com)
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)
RNA serves as a functional read-out of exactly which genes are expressed in which tissues at any one time. (ed.ac.uk)

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)

KRT14 is therefore considered a candidate gene. (medscape.com)

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)

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)

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)
Despite the differences in their normal roles, these genes all contribute to unregulated cell division if they are present in a mutant (oncogenic) form. (cancerquest.org)

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)

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)
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)
These observations support a mutation in a basal keratin gene as causing both blistering and pigmentary disorders. (medscape.com)

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

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)
In conclusion, nitric oxide may function as a mechanism via which LTH enhances the BAT phenotype in fetal sheep prior to birth . (bvsalud.org)

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)

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)

Gene body DNA methylation (gbM) refers to genes with enriched mCG within the transcribed regions and depletion at the transcriptional start and termination sites 16 , 17 . (nature.com)

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)

A gene regulatory network has been formed with the top ranked coding genes to identify their role in causing diabetes. (researchgate.net)
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)

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)

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)
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)
Are there any other kinds of gene products except proteins? (slideserve.com)
Note that by convention gene names are italicized and the proteins they make are not. (cancerquest.org)
We will discuss three key proteins that function as tumor suppressors implicated in the development of pediatric (and some adult) cancers: pRB, p53, and PTEN. (medscape.com)

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)

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)

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)

Rarely, a person with familial hypercholesterolemia is born with two mutated copies of the APOB gene. (medlineplus.gov)
We have two copies of each gene and for oncogenes, a single defective copy is enough to cause a cell to divide. (cancerquest.org)
He hypothesized that loss of function of both copies of RB1 are required for the development of retinoblastoma. (medscape.com)

A Finnish study group has investigated how listening to classical music affected the gene expression profiles of both musically experienced and inexperienced participants. (sciencedaily.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)
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)
Our study is the first to directly confirm widespread speculation that gene therapy offered to children and adolescents can successfully activate the dormant cone photoreceptor pathways and evoke visual signals never previously experienced by these patients," said lead author Tessa Dekker, PhD, of the UCL Institute of Ophthalmology. (ophthalmologytimes.com)
The study participants also completed a psychophysical test of cone function, which assesses the ability of the eyes to distinguish between different levels of contrast. (ophthalmologytimes.com)
This study demonstrated that the Receptor for Activated C-Kinase 1 (RACK1) is important in SC function. (sdbonline.org)
Here, we study gene body DNA methylation (gbM) and gene expression patterns in ecotypes from contrasting thermal environments of two marine plants with contrasting life history strategies in order to explore the potential role epigenetic mechanisms could play in gene plasticity and responsiveness to heat stress. (nature.com)
To further validate the results pathway study was performed to identify the involvement of the coding genes in type II diabetes. (researchgate.net)
The genes obtained from this study showed a significant involvement in causing the disease, which may be used as a potential drug target. (researchgate.net)
In this study, we examined the GAD1 and GAD2 genes for their association with genetic risk across a range of internalizing disorders. (nature.com)
Subject to confirmation in an independent sample, our study suggests that variations in the GAD1 gene may contribute to individual differences in N and impact susceptibility across a range of anxiety disorders and major depression. (nature.com)
Blood will be collected to study the function of the genes that control sex hormone levels in each person. (cdc.gov)

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)
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)
The primate experiments build upon earlier research that tested Life Biosciences' gene therapy platform in mouse models of glaucoma. (fiercebiotech.com)
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)

We recently discovered new ways the BRCA1 gene functions which could help expand our understanding of the development of ovarian and breast cancers. (birmingham.ac.uk)
A diagram showing the major cancer genes for some cancers. (cancerquest.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)
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)

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)

Scientists have mapped which genes are turned on and off in the different tissues and organs in a sheep's body. (ed.ac.uk)

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)

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 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)
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)

Synthesis of active VHb was shown to occur in E. coli from the natural expression signals of the VHb gene. (caltech.edu)
The explanation for this has to do with chemical changes in inherited genes that occur because of the substances to which we are exposed in the womb. (cdc.gov)

The role of DNA methylation and its interaction with gene expression and transcriptome plasticity is poorly understood, and current insight comes mainly from studies in very few model plant species. (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)
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)
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)
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)
The genes that have been identified to date have been categorized into two broad categories, depending on their normal functions in the cell. (cancerquest.org)
This first category also includes genes that contribute to tumor growth by inhibiting cell death. (cancerquest.org)
Many of these genes are responsible for providing the positive signals that lead to cell division. (cancerquest.org)
As stated in the introduction to this section, the defective versions of these genes, known as oncogenes, can cause a cell to divide in an unregulated manner. (cancerquest.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)

Genes linked to intellectual disability influence many biological processes in the body," he added. (medicaldaily.com)
This has increased the need for acquiring knowledge from sequences as to their biological function. (biomedcentral.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)
Manually curated GO annotations reflect our best understanding of the basic molecular function , biological process , and cellular component for this gene product. (yeastgenome.org)

These associations have been supported by studies that have found that immune disease patients carry Tregs that do not function properly, or are present in abnormal numbers. (sanger.ac.uk)
While abnormal keratin filament structure and function can explain hypohidrosis and epithelial differentiation abnormalities, the absence of dermatoglyphics is not well understood. (medscape.com)

In contrast, listening to music down-regulated genes that are associated with neurodegeneration, referring to a neuroprotective role of music. (sciencedaily.com)
In contrast, a highly significant linkage was detected with a number of markers located in the vicinity of the type I keratin gene cluster on band 17q21, with maximum 2-lod scores of 4.16 and 3.717 for the markers D17S1787 and D17S1886, respectively. (medscape.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)

Mutations27

Expression of ge3

Ontology7

Phenotypes5

Tumor suppr3

Protein22

Modulation of gene ex2

Regulation7

Activity of genes2

Immunity2

Regulate4

High-throughput5

Certain genes1

Transcription9

Genome8

Regulates2

20,0002

Mitochondrial2

Proto-oncogenes3

Harvard Medica1

20231

Diseases10

Encodes1

Variants7

Modulates1

Interactions4

Functional6

Tissue specificity2

Candidate gene1

Drosophila3

Consortium2

Roles3

Controlled vocabularies1

Genomes5

Mutation5

Orthologs1

Phenotype3

Upstream2

Elegans1

Refers1

Organism1

Regulatory3

Humans2

Proteins6

Recombinant2

Prediction2

Secretion2

Copies3

Study12

Research10

Cancers2

Researchers4

Taxa1

Tissues and organs1

Measuring gene expression1

Specific3

Occur2

Interaction1

Cell14

Biological4

Abnormal2

Contrast2

Annotation1