Genes cells use genetic. Medical search. Frequent questions

Mutations are alterations in existing genes,' says evolutionary biologist Dennis O'Neil. (scienceclarified.com)
Estimates of the frequency of mutations in human sex cells generally are about one per 10 to 100,000 for any specific gene. (scienceclarified.com)
More than 10 mutations in the AKR1D1 gene have been found to cause congenital bile acid synthesis defect type 2. (medlineplus.gov)
Most of the AKR1D1 gene mutations replace single protein building blocks (amino acids) in the enzyme. (medlineplus.gov)
Mutations in SRD5B1 (AKR1D1), the gene encoding delta(4)-3-oxosteroid 5beta-reductase, in hepatitis and liver failure in infancy. (medlineplus.gov)
Certain gene mutations are one culprit in this toxic accumulation. (medscape.com)
The study- recently published in G3: Genes, Genomes, Genetics -details the development of this high-resolution reference genome , which the researchers then used to produce the first test for genetic mutations , starting with the mutation responsible for albinism. (phys.org)
The accumulated information on genetic mutations and their mapping led to the development of prognostic genetic tests. (genescells.ru)
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)
With this discovery, investigators at the university plan to expound on the work by sequencing the genomes of several thousand people, studying genetic mutations linked to ASD and intellectual disability. (medicaldaily.com)
Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene. (jax.org)
References 2 and 3 describe the characteristics of cancer cells and the importance of mutations in cancer development. (nature.com)
Several other mutations in the DSC2 gene cause ARVC without palmoplantar keratoderma or woolly hair. (medlineplus.gov)
It is unclear why some mutations in this gene affect the skin and hair, while others do not. (medlineplus.gov)
Arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in the desmosomal gene desmocollin-2. (medlineplus.gov)
X linked Alport syndrome (ATS, OMIM 301050) is a hereditary glomerulonephritis resulting from either point mutations or intragenic deletions of the COL4A5 gene encoding the α5 chain of type IV collagen. (bmj.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)
At least five variants (also known as mutations) in the SMARCE1 gene cause Coffin-Siris syndrome, which is characterized by delayed development, abnormalities of the fifth (pinky) fingers or toes, and characteristic facial features that are described as coarse. (medlineplus.gov)
[ 2 , 3 , 4 ] A full list of the described mutations is available at the TBX5 Gene Mutation Database , an online locus-specific database that contains germline and somatic mutations of the TBX5 gene. (medscape.com)
Mutations of this gene introduce a premature stop codon and result in truncated protein versions. (medscape.com)

Once amyloid begins to clog networks of neurons, it triggers the accumulation of another protein, called tau, inside of these brain cells. (medscape.com)
RESULTS: We report here the surprising observation that treatment of a human bronchial epithelial cell line, BEAS-2B cells, with the inhibitor histone deacetylase, trichostatin A, or the histone acetyltransferase inhibitor, anacardic acid, strongly inhibited induction of both IL-6 and IL-8 protein upon stimulation with organic dust. (cdc.gov)
For the study, Hong-Guo Yu used yeast genetics and a novel scheme to selectively remove a single protein from the cell division process called meiosis. (medindia.net)
An HIV vector containing a gene encoding the green fluorescent protein (GFP) was injected into the subretinal space of rat eyes. (nih.gov)
Sickle cell disease is caused by a genetic defect that produces an abnormal form of the protein hemoglobin, which red blood cells need to carry oxygen through the body. (michiganradio.org)
Red blood cells contain hemoglobin, a protein that carries oxygen. (cdc.gov)
The pituitary tumour transforming gene (PTTG), also known as securin, is a mitotic checkpoint protein which inhibits sister chromatid separation during mitosis. (birmingham.ac.uk)
When the pathways were disrupted, the team observed an increase in splicing factors, meaning better communication between protein and genes. (neurosciencenews.com)
The DSC2 gene provides instructions for making a protein called desmocollin-2. (medlineplus.gov)
The resulting abnormal version of the desmocollin-2 protein alters the structure of desmosomes, preventing cells from attaching to one another effectively. (medlineplus.gov)
For example, in cystic fibrosis, a mutation in the gene that codes for the cystic fibrosis transmembrane conductance regulator (CFTR) protein causes the disease. (sciencedaily.com)
People with SCD have abnormally shaped hemoglobin, the protein in red blood cells that carries oxygen from the lungs to bodily tissues. (medicalnewstoday.com)
They found that the gene that codes for a protein called poliovirus receptor-like 4 (PVRL4) allows attachment-free cell growth and also makes cells cluster together once detached from the matrix. (elifesciences.org)
also showed that interactions between the PVRL4 in one cell and a related protein called PVRL1 in a neighboring cell were responsible for holding the cells together in clusters. (elifesciences.org)
The SMARCE1 gene provides instructions for making a protein that forms one piece (subunit) of several different SWI/SNF protein complexes. (medlineplus.gov)
Most SMARCE1 gene variants involved in Coffin-Siris syndrome change single protein building blocks (amino acids) in the SMARCE1 protein. (medlineplus.gov)
Topics covered will include cell membrane structure and function, metabolism, cell motility and division, genome structure and replication, the regulation of gene expression and protein production, genotype to phenotype relationship, and basic principles of inheritance. (middlebury.edu)
Sickle-cell disease (SCD) is a genetic condition in which the red blood cells contain haemoglobin S (HbS), an abnormal form of the oxygen-carrying protein. (who.int)
A cardiomelic developmental field has also been postulated to relate the genetic heterogeneity of HOS (and other similar syndromes) to a cascade of molecules, including the brachyury, sonic hedgehog, bone morphogenetic protein, retinoic acid receptor, and transforming growth factor beta families. (medscape.com)
Pmca2 may be the first gene with a known mutated protein product that confers increased susceptibility to NIHL. (cdc.gov)

The new effort to link DNA to education, described today in Nature Genetics , is among the first to assess the genes of over one million people simultaneously. (technologyreview.com)
Our evidence suggests that clinicians without specific training in genetic counseling but armed with PD genetics education and clinical experience, can satisfactorily disclose PD genetic test results and provide concomitant counseling to their patients," the researchers write. (genomeweb.com)
Genetic variants were assessed using the American College of Medical Genetics criteria for pathogenicity. (bmj.com)

Defects in genes, or genes that fail to appear altogether, are due to a process called mutation. (scienceclarified.com)
In order for a mutation to be inherited, it must occur in the genetic material of a sex cell,' O'Neil says. (scienceclarified.com)
Since humans have approximately 32,000 genes, it is to be expected that most sex cells contain at least one mutation of some sort. (scienceclarified.com)
If a mutation occurs in a somatic cell, it will affect only that person in whose body the cell resides. (scienceclarified.com)
So far, medical scientists have identified almost ten thousand diseases stemming from genetic mutation. (scienceclarified.com)
Scientists cannot yet identify the specific causes of genetic mutation. (scienceclarified.com)
To prove the utility of the new genome, the team set out to discover which gene mutation was responsible for albinism in bison and to create a genetic test that could be used to identify carriers of that mutation. (phys.org)
The discovery is the first time anyone has successfully determined the gene mutation responsible for an observable trait in bison. (phys.org)
At least one mutation in the DSC2 gene has been found to cause a form of keratoderma with woolly hair classified as type III. (medlineplus.gov)
The known mutation, which is written as 1841delG, deletes one DNA building block (base pair) from the DSC2 gene. (medlineplus.gov)
Replacing it in mucosal cells with a copy that does not carry the mutation could reverse this. (sciencedaily.com)
The disease is caused by a gain-of-function mutation that leads to the expression of higher levels of a genetic element called an expanded microsatellite CUG repeat. (medindia.net)
Mice homozygous for a null mutation in the plasma membrane Ca2+-ATPase isoform 2 (PMCA2) gene are deaf (Kozel et al. (cdc.gov)

DMRs show continuous gain or loss of methylation during differentiation, and the overall change in DNA methylation correlates inversely with gene expression at key loci. (lu.se)
We also found an unexpectedly dynamic pattern of transcript isoform regulation, suggesting a critical regulatory role during HSC differentiation, and a cell cycle/DNA repair signature associated with multipotency in MPP2 cells. (lu.se)
Desmosomes may also be involved in other critical cell functions, including chemical signaling pathways, the process by which cells mature to perform specific functions (differentiation), and the self-destruction of cells (apoptosis). (medlineplus.gov)
and controlling the growth, division, and maturation (differentiation) of cells. (medlineplus.gov)
Also, under/over-expression studies of the master regulator Oct4 have revealed that some self-renewal/pluripotency as well as differentiation genes are expressed in a biphasic manner with respect to the concentration of Oct4. (lu.se)
The model also predicts that reprogramming the network from a differentiated state, in particular the endoderm state, into a stem cell state, is best achieved by over-expressing Nanog, rather than by suppression of differentiation genes such as Gata-6. (lu.se)
TFs being expressed and the downstream differentiation target been established as candidates to regulate both pluripotency and genes being shut off [11]. (lu.se)

NGN-401 is a first ever new gene therapy discovered to cure a rare genetic brain disorder called Rett Syndrome. (medindia.net)
UK has given the green light to the world's inaugural gene therapy for sickle-cell disease and thalassemia. (medindia.net)
The development of methods for efficient gene transfer to terminally differentiated retinal cells is important to study the function of the retina as well as for gene therapy of retinal diseases. (nih.gov)
The efficient gene transfer into photoreceptor cells by HIV vectors will be useful for gene therapy of retinal diseases such as retinitis pigmentosa. (nih.gov)
The Food and Drug Administration appears poised to approve the first medical therapy that uses gene-editing to treat a disease. (michiganradio.org)
Created programs for clustering and analysis of the information received have served the development of pharmacogenetics and gene therapy. (genescells.ru)
Lecture: Stem Cell & Gene Therapy for Ocular Genetic Disease: What Technologies are Already Transforming the Ophthalmic World? (cybersight.org.cn)
I've been asked to talk about stem cell and gene therapy for ocular and genetic disease. (cybersight.org.cn)
I know that many of you are, maybe, signed into this talk hoping that you can get gene therapy for your patients tomorrow. (cybersight.org.cn)
The eye is a perfect organ for gene therapy. (cybersight.org.cn)
Some of you may remember the case of Jesse Gelsinger, a patient at the University of Pennsylvania over a decade ago who got gene therapy for hepatic disease and subsequently died. (cybersight.org.cn)
There's a lot of ethical issues, a lot of concern, but it's unlikely that the eye is going to be a place where we're going to see gene therapy spreading to the rest of the body and giving untoward side effects. (cybersight.org.cn)
That infects the retina and delivers the cargo of that virus into the retinal cells, in effect gene therapy. (cybersight.org.cn)
But there may be even easier ways to give gene therapy. (cybersight.org.cn)
For example, what about eye drops and the idea of using gene therapy in the form of eye drops for corneal dystrophies is something that's being worked on right now. (cybersight.org.cn)
The idea behind gene therapy is very simple: if a disease is caused by a particular version of a single gene, it could be cured by replacing this gene. (sciencedaily.com)
This study provides preliminary answers to at least two questions: How effective should scientists expect gene therapy for this disease will be in actual patients? (medindia.net)
Is Stem Cell Therapy Safe for Relapsing-Remitting Multiple Sclerosis Treatment? (medindia.net)
Relapsing-remitting multiple sclerosis has been successfully treated using autologous hematopoietic stem cell therapy. (medindia.net)
Groundbreaking gene therapy for genetic beta thalassemia is now accessible as a treatment to a patient post-FDA approval. (medindia.net)
Furthermore, growth of orthotopically implanted tumors in vivo is inhibited by blocking PVRL4-driven cell-to-cell attachment with monoclonal antibodies, demonstrating a novel strategy for targeted therapy of cancer. (elifesciences.org)
A novel method of gene therapy is helping children born with a rare genetic disorder called AADC deficiency that causes severe physical and developmental disabilities. (news-medical.net)
This study describes the findings from the targeted delivery of gene therapy to midbrain to treat a rare deadly neurodevelopmental disorder in children with a neurogenetic disease, aromatic L-amino acid decarboxylase (AADC) deficiency characterized by deficient synthesis of dopamine and serotonin. (news-medical.net)
Remarkably, these episodes are the first symptom to disappear after gene therapy surgery, and they never return," said study co-author Dr. Krystof Bankiewicz, professor of neurological surgery at Ohio State College of Medicine who leads the Bankiewicz Lab. (news-medical.net)
The directed gene therapy in seven children ages 4 to 9 who were infused with the viral vector resulted in dramatic improvement of symptoms, motor function and quality of life. (news-medical.net)
During the gene therapy surgery, physicians infuse a benign virus programmed with specific DNA into precisely targeted areas of the brain. (news-medical.net)
Researchers believe this same method of gene therapy can be used to treat other genetic disorders as well as common neurodegenerative diseases, such as Parkinson's and Alzheimer's disease. (news-medical.net)
The directed gene therapy, in these patients, resulted in dramatic improvement of symptoms, motor function and quality of life. (news-medical.net)
It's our hope that this will be first of many ultra-rare and other neurologic disorders that will be treated with gene therapy in a similar manner," Bankiewicz said. (news-medical.net)
2021) Gene therapy for aromatic L-amino acid decarboxylase deficiency by MR-guided direct delivery of AAV2-AADC to midbrain dopaminergic neurons. (news-medical.net)
A second capability of synthetic biology involves the re-design of existing genes, cells or organisms for the purpose of gene therapy. (cdc.gov)
Progress in this branch of synthetic biology has yielded remarkable therapeutic advances in gene therapy well beyond the achievements of conventional drugs and biologic agents. (cdc.gov)

1994. Mesothelial cell proliferation: A nonspecific response to lung injury associated with fibrosis. (cdc.gov)
Cellular senescence is a multifaceted process that arrests the proliferation of cells that are at risk of neoplastic transformation. (nature.com)
Downregulation of CDCA5 Can Inhibit Cell Proliferation, Migration, and Invasion, and Induce Apoptosis of Prostate Cancer Cells. (nih.gov)
A gain of function screen for genes that enable proliferation independently of matrix anchorage identified a cell adhesion molecule PVRL4 (poliovirus-receptor-like 4), also known as Nectin-4. (elifesciences.org)
Processes involved in atherosclerosis include coagulation, inflammation, lipid metabolism, intimal injury, and smooth muscle cell proliferation (see the image below). (medscape.com)

Rather than waiting for diseases to develop and then treating them with drugs or surgery, doctors are now embarked on finding the genetic causes of disease in the hope of fixing the malfunctioning gene before the illness even begins to show its early symptoms. (scienceclarified.com)
Not all ailments are genetic diseases, but it is becoming increasingly apparent that genes play some role in almost everything that can go wrong with a human being. (scienceclarified.com)
Some of these miscues are relatively harmless, but others can lead to the catastrophes we refer to as genetic diseases. (scienceclarified.com)
Genetic variation in over 50 genes contributes to the risk of developing neurodegenerative diseases. (bmj.com)
Our ultimate goal is to help people avoid some of the diseases partially caused by ageing cells, such as dementia and cancer. (neurosciencenews.com)
This live webinar will focus on state-of-the-art development of treatment technologies for genetic eye diseases. (cybersight.org.cn)
Diseases with a genetic cause could be treated by supplying a correct version of the faulty gene. (sciencedaily.com)
There aren't any results yet, but if it works it will be the first step in using CRISPR to cure a variety of genetic diseases. (whyevolutionistrue.com)
The diseases have to be based on changes in the DNA because CRISPR works by replacing one gene with another. (whyevolutionistrue.com)
Multiple sclerosis and T1D have distinct target organs, genetic risk factors, onset ages, and female to male ratios, but target organ-specific T cells as initiators unite these diseases. (frontiersin.org)
The study, led by researchers at The Ohio State University Wexner Medical Center and The Ohio State University College of Medicine, offers new hope to those living with incurable genetic and neurodegenerative diseases. (news-medical.net)
This work provides a framework for the treatment of other human nervous system genetic diseases. (news-medical.net)

The genetic variants he and his colleagues measured can explain only about 11 percent of the variability between people in educational attainment. (technologyreview.com)
Associations between telomere attrition, genetic variants in telomere maintenance genes, and non-small cell lung cancer risk in the Jammu and Kashmir population of North India. (bvsalud.org)
The present study aimed to evaluate the genetic associations of select variants within telomere maintenance genes in a population from Jammu and Kashmir, North India , and to investigate the relationship between telomere length and NSCLC risk . (bvsalud.org)
We employed the cost -effective and high-throughput MassARRAY MALDI -TOF platform to assess the genetic associations of select variants within telomere maintenance genes in a population from Jammu and Kashmir, North India . (bvsalud.org)
Our findings suggest that TERT and POT1 gene variants, along with telomere length, may serve as potential biomarkers and therapeutic targets for NSCLC in this population . (bvsalud.org)
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)
Background Several studies suggest that multiple rare genetic variants in genes causing monogenic forms of neurodegenerative disorders interact synergistically to increase disease risk or reduce the age of onset, but these studies have not been validated in large sporadic case series. (bmj.com)
Conclusions A priori, individuals with AD, PD-DLB and FTD-ALS are more likely to harbour a known genetic risk factor, and it is the burden of these variants in combination with rare benign alleles that is likely to be responsible for some oligogenic associations. (bmj.com)
1-5 Some of the known risk alleles are common in the general population, raising the possibility that multiple interacting genetic variants might enhance the risk of developing disease or modify the disease phenotype. (bmj.com)
Innovative discoveries in male hair loss research uncover uncommon genetic variants tied to it. (medindia.net)

The AKR1D1 gene is found on chromosome 7 . (medlineplus.gov)
To produce a genetically balanced gamete (sperm and egg), the cell must contend with two sets of chromosome pairs, homologs and sisters. (medindia.net)
The Regulator of Chromosome Condensation 1 (RCC1) was identified over 20 years ago as a critical cell cycle regulator. (nih.gov)
The β-hemoglobin gene is on chromosome 11 (we have 46 chromosomes, present in 23 pairs). (whyevolutionistrue.com)
The SMARCE1 gene is found on chromosome 17 . (medlineplus.gov)

This study highlights the crucial interplay between genetic variation in telomere maintenance genes , telomere attrition, and NSCLC risk in the Jammu and Kashmir population of North India . (bvsalud.org)
DNA methylation patterns associate with genetic and gene expression variation in HapMap cell lines. (uchicago.edu)
We found evidence that gene expression is constrained by both univariate and multivariate shared genetic variation between genes, sexes and developmental stages, but may be resolved by differential splicing. (biorxiv.org)

In this study, we have evaluated the ability of HIV vectors to transfer genes into retinal cells. (nih.gov)

In addition to repairing faulty genes, medical researchers now have within their grasp the ability to analyze individual genomes-the total genetic makeup of specific organisms-to see if they have a full complement of genes and to add healthy versions of those that are missing. (scienceclarified.com)
Because reference genomes can help researchers identify and characterize genes that are responsible for a large number of traits, this technology is used to do all kinds of things, including diagnosing health conditions and developing targeted treatments," Davis said. (phys.org)
While the transfer of already existing genes from one cell to another characterized an earlier phase of the field of biotechnology, synthetic biology involves the design, assembly, synthesis, or manufacture of new genomes, biological pathways, devices or organisms not found in nature. (cdc.gov)

During normal meiosis, the process of division that halves the number of chromosomes per cell, my colleagues and I discovered that Pds5 regulates the pairing and synapsis (joining together) of 'mom and dad' homologs. (medindia.net)
Chromosomes are structures within each cell that contain your genes. (msdmanuals.com)
Your body's cells contain 46 chromosomes arranged in 23 pairs. (msdmanuals.com)
Errors in your chromosomes and genes cause a variety of medical conditions. (msdmanuals.com)

Specifically, the big haul of education-linked genes will allow scientists to "begin to ask questions about how individual genes contribute to biological pathways that eventually lead to brains and learning," he says. (technologyreview.com)
Summary: Researchers report certain genes and pathways that regulate slicing factors play a critical role in the aging process. (neurosciencenews.com)
A study led by the University of Exeter Medical School has found that certain genes and pathways that regulate splicing factors - a group of proteins in our body that tell our genes how to behave - play a key role in the ageing process. (neurosciencenews.com)
This new work from the Exeter team found that stopping the activity of the pathways ERK and AKT, which communicate signals from outside the cell to the genes, reduced the number of senescent cells in in cultures grown in the laboratory. (neurosciencenews.com)
Furthermore, they found the same effects from knocking out the activity of just two genes controlled by these pathways - FOX01 and ETV6. (neurosciencenews.com)

As researchers study the information gleaned from the Human Genome Project further, more genetic disease will be discovered. (scienceclarified.com)
Researchers explore genetic "scores" that may predict educational success. (technologyreview.com)
Some researchers say the discoveries will permit assessment of children's learning potential from their DNA in the form of a genetic intelligence test , giving parents or school systems a way to identify those with extra promise or explain why others have trouble. (technologyreview.com)
Researchers say this new type of genetic assessment, termed a polygenic risk score , can also give insight into a person's chance of developing heart disease, mental illness, or other conditions. (technologyreview.com)
Over the past couple decades, researchers have identified numerous genes involved in various immune system functions that may also contribute to Alzheimer's. (medscape.com)
In a Novartis-sponsored study in the New England Journal of Medicine, researchers found that a CRISPR-Cas9-based treatment targeting promoters of genes encoding fetal hemoglobin could reduce disease symptoms. (genomeweb.com)
Researchers at Texas A&M University's School of Veterinary Medicine and Biomedical Sciences recently the discovered the gene responsible for albinism in bison. (phys.org)
Disrupting these genetic processes, researchers say, could reverse signs of aging in human cells. (neurosciencenews.com)
Researchers saw a reversal of many of the features of senescent cells that have been linked to the ageing process, leading to a rejuvenation of cells. (neurosciencenews.com)
Researchers suspect that the impaired connections between cells make the skin, hair, and heart muscle more fragile. (medlineplus.gov)
The researchers used mice genetically engineered to carry the same defect and treated some of them with an antisense oligonucleotide, which is essentially a strand of genetic material that sticks to RNA to repair specific gene defects. (medindia.net)
Researchers achieved a significant milestone in uncovering the genetic basis of dilated cardiomyopathy in Dobermanns. (medindia.net)

Our results demonstrate that expression of the kn1 gene enhances transformation efficiencies from 3 to 15 fold compared to a control vector, 3-11 fold relative to the highest transformation efficiencies reported for these citrus genotypes. (springer.com)
Histone deacetylase and acetyltransferase inhibitors decrease organic dust-mediated activation of proinflammatory gene expression. (cdc.gov)
RATIONALE: Post-translational modification of histone proteins are major mechanisms that modify chromatin structure and regulate gene expression in eukaryotes. (cdc.gov)
This approach affords an efficient and rapid means of re-introducing genetically modified tissue into intact organisms and provides a system whereby the expression and regulation of cloned genes can be followed within the context of a well characterized developmental programme. (nature.com)
Mulligan, R. C. Experimental Manipulation of Gene Expression (ed. (nature.com)
Ptashne begins by presenting the current model of gene expression that he and his colleagues have. (the-scientist.com)
However, the use of the rhodopsin promoter resulted in expression predominantly in photoreceptor cells. (nih.gov)
Using fluorescent intersimple sequence repeat PCR (FISSR-PCR), we investigated the relationship between PTTG expression and the degree of genetic instability in normal and tumorous thyroid samples. (birmingham.ac.uk)
We also demonstrated a strong relationship between PTTG expression and the degree of genetic instability in thyroid cancers (R-2 = 0.80, P = 0.007). (birmingham.ac.uk)
Further, we observed a dose response in genetic instability and PTTG expression ( GI Index low dose (0.5 mu g DNA/ six-well plate) PTTG = 15.3% +/- 1.7 versus high dose (3 mu g DNA) PTTG = 50.8% +/- 3.3, P = 0.006). (birmingham.ac.uk)
Overall, we describe the first use of FISSR-PCR in human cancers, and demonstrate that PTTG expression correlates with genetic instability in vivo, and induces genetic instability in vitro. (birmingham.ac.uk)
GXD's primary emphasis is on endogenous gene expression during development. (jax.org)
Abstract for "FOXO1 and ETV6 genes may represent novel regulators of splicing factor expression in cellular senescence" by Eva Latorre, Elizabeth L. Ostler, Richard G. A. Faragher, and Lorna W. Harries in FASEB Journal . (neurosciencenews.com)
Within a quantitative genetic framework, we sequenced RNA from Drosophila melanogaster at different developmental stages to examine sex-biased gene expression and how selection acts upon it. (biorxiv.org)
SWI/SNF complexes regulate gene activity (expression) by a process known as chromatin remodeling. (medlineplus.gov)
when DNA is tightly packed, gene expression is lower than when DNA is loosely packed. (medlineplus.gov)
Transcriptional silencing of transposons by Piwi and maelstrom and its impact on chromatin state and gene expression. (oeaw.ac.at)

The purpose of this review was to generalize and detail information on legislative norms and legal regulation of the use of genetic information in the territory of the Russian Federation and in other countries of the world. (genescells.ru)
and regulation of cell cycle process. (nih.gov)
Research on vitamin D regulation of thymocyte selection, Th1 and Th17 cells, T-cell programed cell death, and T-regulatory (Treg) cells is summarized and integrated into model mechanisms. (frontiersin.org)
A role for BAF57 in cell cycle-dependent transcriptional regulation by the SWI/SNF chromatin remodeling complex. (medlineplus.gov)

Crit Rev Eukaryot Gene Expr, 2021. (nih.gov)

SCD is a congenital disease that is caused by inheriting certain genes. (medicalnewstoday.com)

Another challenge to using transgenic plant technology in citrus is the long juvenile phase of immature tissues that ranges from 5 to 20 years, which greatly delays analysis of the effects of candidate genes. (springer.com)
Comparison with two other deletions extending beyond COL4A5 in the telomeric direction and generating only ATS allowed us to define the critical region for mental retardation (MR), which contains four candidate genes. (bmj.com)

Am J Respir Cell Mol Biol 10:253-258. (cdc.gov)
Mol Cell Biol, 2014 Apr. (nih.gov)
J Cell Biol, 2010 Mar 22. (nih.gov)
Trends Cell Biol. (nature.com)
Nat Cell Biol. (oeaw.ac.at)

With all six genotypes of citrus tested including Eureka lemon, a cultivar difficult to be transformed, our results demonstrate that the kn1 gene may provide an effective molecular tool to enhance genetic transformation efficiencies of various citrus varieties. (springer.com)
A small, easily digestible new textbook, A Genetic Switch, is destined to become an essential primer for novices in molecular biology and a rewarding recapitulation for old hands. (the-scientist.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)
These lipoplexes are taken up by cells in a structure called an endosome,' explains Bart Bruininks, a PhD student in the group of Siewert-Jan Marrink, Professor of Molecular Dynamics at the University of Groningen. (sciencedaily.com)
A deep understanding of molecular mechanisms relevant to gene-environment interactions is needed to deliver etiology-based autoimmune disease prevention and treatment strategies. (frontiersin.org)
Finally, unanswered questions relating to vitamin D mechanisms in CD4 + T cells are highlighted to promote further research that may lead to a deeper understanding of autoimmune disease molecular etiology. (frontiersin.org)
In this introduction to modern cellular, genetic, and molecular biology we will explore life science concepts with an emphasis on their integral nature and evolutionary relationships. (middlebury.edu)

Hemolysis, vaso-occlusion, and ischemia-reperfusion injury are the clinical hallmarks of sickle cell disease (SCD). (medscape.com)
The underlying mechanisms of renal injury or sickle cell nephropathy (SCN) relate mainly to hypoxia and ischemia. (medscape.com)
The primary management goals in sickle cell nephropathy (SCN) are the prevention of complications and the reduction of morbidity, primarily from progression to end-stage renal disease (ESRD). (medscape.com)
The diagnosis of chronic kidney disease (CKD) in patients with sickle cell disease (SCD) generally occurs between 30 and 40 years of age, with ESRD developing in approximately 11% of patients. (medscape.com)
It's really life-changing," says Victoria Gray, when describing the gene-editing treatment for sickle cell disease that she received as part of a clinical trial in 2019. (michiganradio.org)
During the hearing, Vertex Pharmaceuticals of Boston, which developed the treatment with CRISPR Therapeutics also based in Boston, reported exa-cel appears to be safe and highly effective at preventing episodes of excruciating pain that plague sickle cell disease patients. (michiganradio.org)
In totality, the data support the remarkable clinical benefit of exa-cel in patients with sickle cell disease," Dr. William Hobbs, Vertex's vice president, clinical development, told the committee. (michiganradio.org)
During the public comment portion of the meeting, the committee heard emotional testimony from several sickle cell patients, including Victoria Gray , 38, of Forest, Miss. Gray became the first sickle cell patient to receive the treatment in 2019. (michiganradio.org)
Throughout their lives, sickle cell patients are repeatedly rushed to the hospital for powerful pain drugs and blood transfusions. (michiganradio.org)
What is Sickle Cell Disease? (cdc.gov)
Sickle cell disease (SCD) is a group of inherited red blood cell disorders. (cdc.gov)
In someone who has SCD, the hemoglobin is abnormal, which causes the red blood cells to become hard and sticky and look like a C-shaped farm tool called a "sickle. (cdc.gov)
The sickle cells die early, which causes a constant shortage of red blood cells. (cdc.gov)
People who have this form of SCD inherit two genes, one from each parent, that code for hemoglobin "S." Hemoglobin S is an abnormal form of hemoglobin that causes the red cells to become rigid, and sickle shaped. (cdc.gov)
This is commonly called sickle cell anemia and is usually the most severe form of the disease. (cdc.gov)
People who have sickle cell trait (SCT) inherit a hemoglobin "S" gene from one parent and a normal gene (one that codes for hemoglobin "A") from the other parent. (cdc.gov)
Sickle cell anemia, or sickle cell disease (SCD), is the most common form of inherited blood disorder. (medicalnewstoday.com)
To develop SCD, a newborn must receive two copies of the sickle cell gene or sickle cell trait (SCT) from their parents. (medicalnewstoday.com)
People with one sickle cell gene carry SCT, which typically does not cause severe disease. (medicalnewstoday.com)
SCD affects cells so that they become crescent- or sickle-shaped instead of being rounded, and they become less rigid than those in people without the condition. (medicalnewstoday.com)
Sickle cell disease usually presents in babies at birth. (medicalnewstoday.com)
The latter method is what's being used in an attempt to cure a devastating disease, sickle cell anemia. (whyevolutionistrue.com)
In this case the disease is caused by a lesion in hemoglobin (see below): a replacement of one amino acid (glutamic acid in normal hemoglobin, Hb-A) with another (valine in sickle-cell hemoglobin Hb-S), and this is caused by a change in a single nucleotide in the DNA coding for the β chain of hemoglobin. (whyevolutionistrue.com)
This one nucleotide change out of the 3.2 billion in our genome produces the devastating disease, as the mutant hemoglobin causes the red blood cells containing it to assume a sickle shape, producing a whole syndrome of debilitating and painful traits: joint damage, strokes (the sickled cells clog the circulatory system), spleen damage, anemia, and infections. (whyevolutionistrue.com)
The vast preponderance of African-American sufferers in the U.S. is important because sickle-cell anemia is found almost entirely in people of West African origin. (whyevolutionistrue.com)
This is a famous evolutionary story: the sickle-cell gene, when present in one copy along with a "normal" gene, doesn't cause the disease, as enough normal red blood cells are produced to prevent symptoms. (whyevolutionistrue.com)
Sickle-cell anaemia is a common genetic condition due to a haemoglobin disorder - inheritance of mutant haemoglobin genes from both parents. (who.int)
Such disorders, mainly thalassaemias and sickle-cell anaemia, are globally widespread. (who.int)
About 5% of the world's population carries genes responsible for haemoglobinopathies and each year about 300 000 infants are born with major haemoglobin disorders - in more than 200 000 cases sickle-cell anaemia in Africa. (who.int)
Sickle-cell anaemia is particularly common among people whose ancestors come from sub-Saharan Africa, India, Saudi Arabia and Mediterranean countries, and migration raised the frequency of the gene in the American continent. (who.int)
This distribution reflects the fact that sickle-cell trait confers a survival advantage against malaria and that selection pressure due to malaria has resulted in high frequencies of the mutant gene especially in areas of high malarial transmission. (who.int)
Frequencies of the carrier state determine the prevalence of sickle-cell anaemia at birth, which may thus be estimated and predicted. (who.int)
For example, in Nigeria, by far the most populous country in the subregion with about 120 million inhabitants, 24% of the population are carriers of the mutant gene and the prevalence of sickle-cell anaemia is about 20 per 1000 births. (who.int)
This means that in Nigeria alone, more than 100 000 children are born annually with sickle-cell anaemia. (who.int)
The sickle-cell gene has become common in Africa because the sickle-cell trait confers some resistance to falciparum malaria during a critical period of early childhood, favouring survival of the host and subsequent transmission of the abnormal haemoglobin gene. (who.int)
Although a single abnormal gene may protect against malaria, inheritance of two abnormal genes leads to sickle-cell anaemia and confers no such protection, and malaria is a major cause of ill-health and death in children with sickle-cell anaemia. (who.int)
There is increasing evidence that malaria not only influences outcome but also changes the manifestations of sickle-cell anaemia in Africa. (who.int)
The public health implications of sickle-cell anaemia are obvious as it causes either death or disability. (who.int)
When health impact is measured by under-five mortality, sickle-cell anaemia contributes the equivalent of 5% of under-five deaths on the African continent, more than 9% of such deaths in west Africa, and up to 16% of under-five deaths in individual west African countries. (who.int)
There are, however, no firm data on the survival of patients with sickle-cell anaemia on the African continent. (who.int)
In sub-Saharan Africa mortality will be much higher, and in some areas estimates derived from the age structure of populations attending clinics suggest that half of those with sickle-cell anaemia have died by the age of five years usually from infections including malaria and pneumococcal sepsis, and from the anaemia itself. (who.int)
Sickle-cell anaemia covers a wide spectrum of illness. (who.int)
The main problems arise from the tendency of the red blood cells to become sickle-shaped and block capillaries at low oxygen tension. (who.int)
In children, sickle-shaped red blood cells often become trapped in the spleen, leading to a serious risk of death before the age of seven years from a sudden profound anaemia associated with rapid splenic enlargement or because lack of splenic function permits an overwhelming infection. (who.int)
Sickle-cell disease (SCD) is an inherited disorder of haemoglobin. (who.int)
Individuals who inherit sickle-cell genes from both parents are homozygotes and develop SCD, while those who inherit the gene from only one parent have the sickle-cell trait (SCT). (who.int)
Sickle-cell disease prevalence depends on sickle-cell trait. (who.int)

This scientifically rigorous, model-based challenge to an important tenet of neo-Darwinian theory emphasizes cooperation, elucidates the factors that contribute to evolutionary success in a gene pool or animal social system, and vigorously demonstrates that to identify Darwinism with selfishness and individuality misrepresents the facts of life as we now know them. (ucpress.edu)

Subsequent transplantation of the cells into lethally irradiated mice results in engraftment of the animals with donor haematopoietic tissue containing the bacterial gene. (nature.com)
Mice homozygous for a conditional allele activated in Schwann cells exhibit transient acceleration of postnatal myelination, reduced demyelination in culture, and reduced myelin degradation and increases remyelination following nerve axotomy or sciatic nerve crush. (jax.org)
Mice homozygous for a null allele exhibit incomplete prenatal lethality, decreased osteoclast cell number, decreased angiogenesis, increased long bone epiphyseal plate size, and short long bones. (jax.org)
Mice homozygous for disruptions in this gene display a normal phenotype. (jax.org)
Then they studied the effects of exercise on old mice with the gene defect who received only the oligonucleotide, some that were only compelled to exercise, some that had both the treatment and exercised, and a group that received a placebo (a saline solution). (medindia.net)

Background: Recent studies have associated the transcription factors, Oct4, Sox2 and Nanog as parts of a self-regulating network which is responsible for maintaining embryonic stem cell properties: self renewal and pluripotency. (lu.se)
It provides a framework to explore strategies of reprogramming a cell from a differentiated state to a stem cell state through directed perturbations. (lu.se)
Such an approach is highly relevant to regenerative medicine since it allows for a rapid search over the host of possibilities for reprogramming to a stem cell state. (lu.se)
Citation: Chickarmane V, Peterson C (2008) A Computational Model for Understanding Stem Cell, Trophectoderm and Endoderm Lineage Determination. (lu.se)
At the core of the network reside Oct4, Sox2 and Nanog, into embryonic stem cells [1,2,3,4,5], have made major inroads which form a self-organized core of the TFs maintaining into stem cell biology. (lu.se)
A computational model of master regulators that are required for successful reprogramming the dynamics of this core network has revealed that it functions as of a differentiated cell into a cell exhibiting stem cell like a bistable switch, which in the on state, corresponds to all these properties. (lu.se)

SCD is the most prevalent genetic disease in the African Region.1 There are different subtypes of SCD in which the abnormal S gene (S) coexists with other abnormal haemoglobin genes. (who.int)

1- 3 Contiguous gene syndromes are phenotypically complex disorders associated with the deletion of multiple adjacent genes. (bmj.com)

High transformation efficiency of citrus is of great importance for large scale characterization of gene functions and also cultivar development via transgenic and genome editing technologies. (springer.com)
A research team led by scientists from the Texas A&M School of Veterinary Medicine & Biomedical Sciences (VMBS) has developed the most comprehensive genome yet for the North American bison, bringing the animal's genetic roadmap up to date with the latest genome sequencing technology. (phys.org)

CRISPR, as I described in a 2017 book review in the Washington Post , is a method of precise gene editing that grew out of pure research: the observation of strange repeated sequences in bacterial DNA. (whyevolutionistrue.com)
CRISPR is a remarkable technology which, when it works properly-and that's not always the case-can be used to snip a defective gene-or part of a defective gene-out of an organism's DNA and replace it with a normally functioning gene. (whyevolutionistrue.com)
Modification of existing genes in living animal and human cells is enabled by engineered nucleases such as meganucleases, zinc finger nucleases, transcription activator-like effector-based nucleases, and the CRISPR-Cas system. (cdc.gov)

It is estimated that up to 90% of cancers in humans originate in epithelial tissue, and the cells within such tumors are known to survive and divide even when they are no longer attached to the extracellular matrix. (elifesciences.org)
Normally, the PVRL4 gene is not active in breast epithelial cells, but its activity is detected in many breast, lung, and ovarian tumors. (elifesciences.org)
This behavior is particularly evident in the cells that divide aggressively to form tumors that subsequently migrate and colonize other tissues around the body. (elifesciences.org)
used genetic techniques to silence PVRL4 in cells from breast tumors, they found that it reduced the formation of clusters by the cancer cells and also reduced their ability to grow in the absence of attachment. (elifesciences.org)

Until recently, however, scientists did not have the tools to locate the genes that influence human behaviors. (technologyreview.com)
The gene-editing technology allows scientists to easily make precise changes in DNA. (michiganradio.org)
Scientists have now used advanced simulations to investigate how these lipoplexes deliver DNA fragments into cells. (sciencedaily.com)
That is why scientists are now experimenting with lipid-based complexes, which are similar to cell membranes. (sciencedaily.com)

Loss of cell division cycle‑associated 5 promotes cell apoptosis by activating DNA damage response in clear cell renal cell carcinoma. (nih.gov)
Silencing oncogene cell division cycle associated 5 induces apoptosis and G1 phase arrest of non-small cell lung cancer cells via p53-p21 signaling pathway. (nih.gov)

abstract = "Cancer reflects the progressive accumulation of genetic alterations and subsequent genetic instability of cells. (birmingham.ac.uk)

Proliferating cells can initiate an additional response by adopting a state of permanent cell-cycle arrest that is termed cellular senescence. (nature.com)
Understanding the causes and consequences of cellular senescence has provided novel insights into how cells react to stress, especially genotoxic stress, and how this cellular response can affect complex organismal processes such as the development of cancer and ageing. (nature.com)
Disturbance of this process alters the activity of many genes and disrupts several cellular processes, which could explain the diverse signs and symptoms of Coffin-Siris syndrome. (medlineplus.gov)

Fears over genetic engineering have been heightened by an Oxford scientist's plan to release a virus that carries a gene for scorpion venom. (newscientist.com)

In vitro reporter gene assay showed that the variant allele significantly reduced promoter activity. (elsevierpure.com)

Dysregulation of telomeres has been implicated in the development of various cancers , including non-small cell lung cancer (NSCLC), which is the most common type of lung cancer . (bvsalud.org)
We conclude that PTTG may be an important gene in the mutator phenotype development in thyroid cancer. (birmingham.ac.uk)
We need to figure out where genetic changes appear in the brain, at what stages during development, and which biological processes they disrupt. (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)
Research has shed new light on genetic processes that may one day lead to the development of therapies that can slow, or even reverse, how our cells age. (neurosciencenews.com)
Synthetic biology is playing an increasing role in the commercial bioeconomy as providers of biological designs, optimized biological molecules, laboratory suppliers of customer-specified DNA, RNA, enzymes and cell-cloning services, and in drug development. (cdc.gov)
The T-box gene family is a group of related genes that play a critical role in human embryonic development. (medscape.com)

Diagnostic tests before the baby is born, such as chorionic villus sampling and amniocentesis , can check for chromosomal or genetic abnormalities in the baby. (cdc.gov)

The largest-ever genetic study on human cognition has found more than 1,000 links between people's genes and how far they get in school. (technologyreview.com)
At the same time, the Russian Federation (RF) and the world community are actively discussing the protection of human rights, the inviolability of the person, storage, use of his personal data, including genetic information from unauthorized access. (genescells.ru)
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)
First off, gene splicing or editing like you describe currently isn't possible for human embryos at all, let alone recommended! (thetech.org)
The study, published in the FASEB Journal, was conducted in human cells in laboratories. (neurosciencenews.com)
Professor Lorna Harries, of the University of Exeter Medical School, who led the research, said: "We're really excited by the discovery that disrupting targeted genetic processes can bring about at least a partial reversal of key elements of the ageing process in human cells. (neurosciencenews.com)
cbtabs][cbtab title="MLA"]University of Exeter"Disrupting Genetic Processes Reverses Aging in Human Cells. (neurosciencenews.com)
Retrieved September 13, 2018 from https://neurosciencenews.com/aging-genetic-disruption-9858/[/cbtab][cbtab title="Chicago"]University of Exeter"Disrupting Genetic Processes Reverses Aging in Human Cells. (neurosciencenews.com)
Hayflick, L. The limited in vitro lifetime of human diploid cell strains. (nature.com)
A classic paper that describes the limited replicative lifespan of normal human cells. (nature.com)
However, in practice, delivering new genetic material to human cells is difficult. (sciencedaily.com)
Animal modeling and human mechanistic data are summarized to support the view that vitamin D probably influences thymic negative selection, effector Th1 and Th17 pathogenesis and responsiveness to extrinsic cell death signals, FoxP3 + CD4 + T-regulatory cell and CD4 + T-regulatory cell type 1 (Tr1) cell functions, and a Th1-Tr1 switch. (frontiersin.org)
explored which genes enable epithelial cells from the human mammary gland to grow without being attached to the extracellular matrix. (elifesciences.org)
Synthetic biology promises tremendous societal benefits in treating human genetic disease. (cdc.gov)
The responsible gene has been mapped to band 12q24.1, which encodes the human transcription factor TBX5. (medscape.com)

The best we can do is look at the DNA in embryos and choose ones without genetic predisposition for health problems. (thetech.org)

I think at first a lot of people thought these cells were reacting to Alzheimer's pathology, and not necessarily a cause of the disease," he says. (medscape.com)
So it must be that innate immune cells are important in some way in the pathogenesis of the disease,' " he adds. (medscape.com)
Widespread genetic testing for Parkinson's disease is feasible, according to results from an initial phase of the PD GENEration (PD GENE) clinical trial. (genomeweb.com)
PD GENE was launched in 2019 and provides free genetic counseling and testing for people with Parkinson's disease, with the first phase of the study focusing on the feasibility of testing as well as interest in such testing. (genomeweb.com)
You can imagine that there might be cases where all of the embryos will develop a genetic disease. (thetech.org)
But knowing the patient's gene also helps us understand how the disease happens, how it works. (cybersight.org.cn)
What's important is that if this treatment works, it opens up a whole new panorama on curing genetic disease. (whyevolutionistrue.com)
Evidence for CD4 + T-cell involvement in autoimmune disease pathogenesis and for paracrine calcitriol signaling to CD4 + T lymphocytes is summarized to support the thesis that calcitriol is sunlight's main protective signal transducer in autoimmune disease risk. (frontiersin.org)
Gene-environment interactions, sunlight and vitamin D, and T lymphocytes as autoimmune disease initiators and vitamin D targets are discussed to explain the rationale for reviewing vitamin D mechanisms in T cells. (frontiersin.org)
Adding exercise to genetic treatment for myotonic dystrophy type 1 (DM1) was more effective in reversing fatigue than giving the treatment alone, as per the study in a mouse model of the disease. (medindia.net)
It's encouraging that exercise makes a noticeable difference on its own and in combination with a genetic treatment specifically tailored for the disease," says Thurman M. Wheeler, MD, an investigator in the department of Neurology at MGH and at Harvard Medical School. (medindia.net)
It is the most prevalent genetic disease in the WHO African Region. (who.int)

A cell biologist at The Florida State University has found that the absence of a gene called Pds5, could lead to a number of chromosomal birth defects like Down syndrome. (medindia.net)

Bronchial epithelial cells, BEAS-2B cell line, were pretreated for 30-120 min with trichostatin A (1-10 ug/ml) and anacardic acid (0.1 to 1 uM), then stimulated with organic dust for 4 hours. (cdc.gov)
Differences in the biological effects of crocidolite asbestos and two glass fibres on epithelial lung cells. (cdc.gov)
Epithelial tissue is one of the four major types of tissue found in animals, and is the only type of tissue that is able to form and maintain layers of cells that are just one cell thick. (elifesciences.org)
This mechanism preserves the single-cell layer pattern throughout the body and prevents epithelial cells from growing in inappropriate locations. (elifesciences.org)

Investigators at the University of California, Los Angeles say they've mapped risk genes for autism spectrum disorder across the brain, by function. (medicaldaily.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)

Those with the trait are carriers, have no symptoms, but can pass the gene on to their offspring. (who.int)

The study has been published in the Journal of Cell Biology. (medindia.net)
The biosafety concerns about synthetic biology and its gene-editing tools are similar to the concerns lodged about recombinant DNA technology when it emerged in mid-1970s. (cdc.gov)

Our lifespans at the time were far shorter than they are today, and the majority of people didn't live long enough to develop dementia or the withered brain cells that come with it. (medscape.com)

It then goes on to extrapolate from these mechanisms to possible developmental decisions made in eukaryotic cells. (the-scientist.com)
Sexual dimorphism is predicted to be constrained by the underlying genetic architecture shared between the sexes and through ontogeny, but whole-transcriptome data for both sexes across genotypes and developmental stages are lacking. (biorxiv.org)

We now propose renaming this condition ATS-MR, so that consistent terminology is used to describe the known ATS contiguous gene syndromes. (bmj.com)
Research suggests you may have a higher chance of developing certain types of polyps if you have some genetic changes or a family history of syndromes caused by genetic features. (healthline.com)

There's been a clinical trial using it for the PAX6 gene for anaritic keratopathy. (cybersight.org.cn)
In 1998, we described a new Xq22.3 contiguous gene syndrome which we named AMME (OMIM 300194) because of the distinctive features observed in affected males: Alport syndrome (A), mental retardation (M), midface hypoplasia (M), and elliptocytosis (E). 10 After the original publication, clinical re-evaluation of the family showed alterations of cardiac rhythm and morphology on echocardiography. (bmj.com)

In those cases, a gene is created that does not contain the correct information to produce the proteins that it normally makes. (scienceclarified.com)
One way to conceptualize this process is to think of the gene as a recipe for an amino acid (amino acids are the building blocks of proteins). (scienceclarified.com)
Genes are stretches of DNA that encode for the proteins that literally run our bodies and brains. (medscape.com)
Thymic stem cells actively participate in their environment by generating extracellular matrix proteins, essentially forming their own support system. (medindia.net)

An efficient genetic transformation protocol is a key step for using transgenic technologies to improve citrus quality, productivity, and resistance to abiotic and biotic stresses such as HLB. (springer.com)
On the other hand, transgenic plants produced from mature tissue via genetic transformation can drastically shorten flowering and fruiting time and thus speed up field evaluation studies. (springer.com)

When Pds5 is removed and sister chromatids become synapsed as a result, the segregation and recombination of homologs essential for genetic diversity fails. (medindia.net)

Aged, or senescent, cells are thought to represent a driver of the ageing process and other groups have shown that if such cells are removed in animal models, many features of ageing can be corrected. (neurosciencenews.com)
This, in turn, could lead to a build-up of senescent cells - those which have deteriorated or stopped dividing as they age. (neurosciencenews.com)
They also noted a reduction in the number of senescent cells. (neurosciencenews.com)
Figure 5: Potential deleterious effects of senescent cells. (nature.com)

Anatomy11

Organisms5

Chemicals and Drugs17

Analytical, Diagnostic and Therapeutic Techniques and Equipment3

Phenomena and Processes23

Information Science2

Mutations23

Protein20

Genetics3

Mutation13

Differentiation7

Therapy32

Proliferation5

Diseases12

Variants12

Chromosome5

Variation3

Retinal cells1

Genomes3

Chromosomes4

Pathways5

Researchers12

Expression17

Regulation4

20211

Certain genes1

Candidate genes2

Biol5

Molecular7

Sickle47

Evolutionary1

Mice5

Stem Cell6

Abnormal haemoglobin1

Disorders1

Genome2

CRISPR3

Tumors4

Scientists4

Apoptosis2

Abstract1

Cellular3

Carries1

Allele1

Development7

Abnormalities1

Human15

Predisposition1

Disease12

Chromosomal1

Epithelial4

Disorder2

Symptoms1

Biology2

Dementia1

Developmental2

Syndromes2

Clinical2

Proteins4

Transgenic2

Recombination1

Senescent cells4