Links between genetic genes x linked. Medical search. Frequent questions

The ABCB7 gene provides instructions for making a protein known as an ATP-binding cassette (ABC) transporter. (medlineplus.gov)
Human ABC7 transporter: gene structure and mutation causing X-linked sideroblastic anemia with ataxia with disruption of cytosolic iron-sulfur protein maturation. (medlineplus.gov)
Thus, our work demonstrates that APA links genetic variation to variation in gene expression, protein expression, and disease risk, and reveals uncharted modes of genetic regulation. (elifesciences.org)
The genetic study showed promising results in "silencing" the genes that translate into tau protein, the primary component behind dementia. (medicaldaily.com)
This gene encodes a protein that regulates skeletal and cardiovascular development in humans. (answersingenesis.org)
In this science project, you will explore online genetic databases to identify how a mutation in a gene can result in a dysfunctional protein, and how other mutations may have no effect at all. (sciencebuddies.org)
Many things can happen during this process to prevent a gene from turning into protein or to have a non-functional protein created. (sciencebuddies.org)
The innovative approach combined an analysis of the human genome - the complete set of genes in a person -- with an evaluation of the epigenome -- changes to DNA that helps determine which genes can be 'read' so its protein is made. (news-medical.net)
Many gene mutations related to the autism spectrum disorders reside in a gene that produces a protein relevant to synapses, or is important for the connections between neurons. (neurosciencenews.com)
Genes and Chromosomes 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)
A gene is a segment of deoxyribonucleic acid ( DNA) and contains the code for a specific protein that functions in one. (msdmanuals.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)
Genes also contain the information for normal growth and development, and they help determine each person's physical features, such as height, eye color, and hair color. (cdc.gov)
Within each cell of a person's body, the genetic instructions (DNA) are packaged into larger units called chromosomes. (cdc.gov)
Overview of Chromosome and Gene Disorders Chromosomes are structures within cells that contain a person's genes. (msdmanuals.com)

Genes are made up of a chemical called deoxyribonucleic acid (DNA). (cdc.gov)
Every gene in the human body consists of DNA (deoxyribonucleic acid). (sciencebuddies.org)

Alterations in synaptic genes are most commonly implicated in autism and other cognitive disorders. (genominfo.org)
For example, alterations in one of the new genes, MAP3K1 , appear to give rise to a particularly high risk of breast cancer," said Dr. Jacques Simard, Ph.D. , professor of medicine at Québec-Université Laval Research Center, in a press release. (medicalnewstoday.com)
Our data raise the possibility that the development of AML may require fewer genetic alterations than other cancers and that a very limited number of biological processes may need to be altered in hematopoietic stem cells, multi-potential progenitors or committed myeloid progenitors to convert them from a normal cell to AML," the authors noted, referring to several types of immature and maturing cells that give rise to this cancer. (scienceblog.com)

Until recently, however, scientists did not have the tools to locate the genes that influence human behaviors. (technologyreview.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)
This signaling pathway is regulated by a gene, called neurofibromatosis type 1 (Nf1), which TSRI scientists found is linked with excessive drinking in mice. (scripps.edu)
Having identified genes that differ dramatically in giraffes, scientists believe they've located the genetic blueprint responsible for many of the giraffe's unique features. (answersingenesis.org)
Evolutionary scientists believe these differences, the genetic underpinning of what makes a giraffe a giraffe, are the result of random mutations accumulated over millions of years. (answersingenesis.org)
Scientists have identified new genes linked to breast cancer. (medicalnewstoday.com)
140 regions of scrambled genetic code believed to contain many undiscovered cancer genes identified by a team led by scientists at Dana-Farber Cancer Institute and the Broad Institute. (medindia.net)
The results, published in two new papers appearing simultaneously in the journal Nature Genetics , come from the Global Lipids Genetics Consortium -- a worldwide team of scientists who pooled genetic and clinical information from more than 188,000 people from many countries and heritages. (medindia.net)

Mutation of a putative mitochondrial iron transporter gene (ABC7) in X-linked sideroblastic anemia and ataxia (XLSA/A). Hum Mol Genet. (medlineplus.gov)
Maguire A, Hellier K, Hammans S, May A. X-linked cerebellar ataxia and sideroblastic anaemia associated with a missense mutation in the ABC7 gene predicting V411L. (medlineplus.gov)
Dr Kaitlin Samocha, a first author of the study from the Wellcome Sanger Institute, said: "From previous studies we know that certain genes and types of mutation are more strongly linked to developmental disorders, which has allowed us to narrow our search. (sciencedaily.com)
Around 60 per cent of children born with a disorder do not have a diagnosis and the authors estimate that around 50 per cent of these children will have a mutation in one of these unknown genes. (sciencedaily.com)
Sometimes only a single DNA mutation (change in the DNA sequence) can cause a person to have a devastating genetic disease , and researchers have been able to identify mutations responsible for causing thousands of different genetic diseases and conditions. (sciencebuddies.org)
For example, in cystic fibrosis there is a mutation in a gene, called the CFTR gene, that encodes for a channel that controls the flow of particles in cells. (sciencebuddies.org)
Cystic fibrosis is caused by a mutation in the CFTR gene, which encodes for a chloride channel that is important for regulating water flow into, and out of, the cells. (sciencebuddies.org)
The researchers found slightly more than two CNAs per AML patient, and less than one point mutation per patient in the genes sequenced. (scienceblog.com)
Gene mutation has been linked to occurrences in Ashkenazi Jews. (mindmeister.com)
Even though functional changes are clearly expressed in similar manner in relation to distinct neurodevelopmental disorders, in human neural progenitor cultures there are a lot of individual variations that presumably regulate the effects of each gene mutation on the individual phenotype," Castrén elaborates. (neurosciencenews.com)

Genomic profiling also identifies genes associated with poor outcome in cases without molecular aberrations and specific genes that may be new therapeutic targets in adult ALL. (aacrjournals.org)
Professor Derks said the researchers hoped to expand their study to find even more genomic regions that are yet to be identified as genetic causal risk factors of these two disorders and other psychiatric illnesses. (ndtv.com)

Research into the causes of developmental disorders has identified 285 genes linked to these conditions, including 28 newly-associated genes. (sciencedaily.com)
The authors collated anonymised healthcare and research data to create the largest available genetic resource for developmental disorders. (sciencedaily.com)
They estimate about 1,000 genes linked to developmental disorders remain to be discovered, requiring more open access to healthcare data. (sciencedaily.com)
Analysis of the data estimates that around 1,000 genes linked to developmental disorders remain to be discovered. (sciencedaily.com)
The de novo mutations in genes that create proteins are a well-established cause of developmental disorders, but to date many of the genes linked to these disorders remain unknown. (sciencedaily.com)
Ongoing initiatives, such as the Deciphering Developmental Disorders (DDD) study, have discovered associated genes by looking for patterns in the genomes of people with these disorders. (sciencedaily.com)
Combined with a much larger dataset, this has enabled us to identify 28 novel genes associated with developmental disorders. (sciencedaily.com)
But our findings also estimate that we require ten times as much data to be able to identify all the genes linked to developmental disorders. (sciencedaily.com)
Gene defects linked with developmental disorders are often located in genes involved in brain development. (neurosciencenews.com)

It is unclear how changes in the ABCB7 gene lead to problems with coordination and balance (ataxia) and other movement abnormalities. (medlineplus.gov)
[ 6 ] Therefore, mutations in the PAX3 gene could affect regulation of the MITF gene, leading to abnormalities of melanocyte differentiation. (medscape.com)
To characterize gene expression signatures in acute lymphocytic leukemia (ALL) cells associated with known genotypic abnormalities in adult patients. (aacrjournals.org)
We also identified a set of 83 genes that were highly expressed in leukemia blasts from patients without known molecular abnormalities who subsequently relapsed following therapy. (aacrjournals.org)
Risk factors include older age in the woman, a family history of genetic abnormalities, a previous baby with a birth defect or miscarriage, and a chromosomal abnormality in one of the prospective parents. (msdmanuals.com)
Couples who are thinking of having a baby should speak with their health care practitioner about the risks of genetic abnormalities (prenatal genetic counseling). (msdmanuals.com)
They can discuss precautions that they can take to help prevent some genetic abnormalities. (msdmanuals.com)
Preimplantation Genetic Testing Prenatal diagnostic testing involves testing the fetus before birth (prenatally) to determine whether the fetus has certain abnormalities, including certain hereditary or spontaneous genetic. (msdmanuals.com)

These results suggest that estimates of genetic liability ascertained using prevalent samples are tapping in to an underlying genetic predisposition for developing depression, not just a predisposition to maintain the disorder once it has been established," the authors wrote in their paper. (genomeweb.com)

Basic understanding of what genes, DNA, and proteins are. (sciencebuddies.org)

A number of genetic loci have been linked to risk of developing major depressive disorder and polygenic risk scores based on these loci are associated with disease risk, but researchers from the Psychiatric Genomics Consortium noted that such tools have not been examined deeply in a general population context. (genomeweb.com)

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)
The study also applied statistical modelling to the data to estimate that approximately 1,000 more development disorder-associated genes remain undiscovered. (sciencedaily.com)

Genetic conditions can be described by the chromosome that contains the gene or DNA change. (cdc.gov)
If the gene or DNA change is part of the X chromosome, the condition is called "X-linked" or "sex-linked. (cdc.gov)
Most, if not all, cases of WS1 are caused by mutations in the PAX3 gene located on chromosome band 2q35. (medscape.com)
Mutations in the MITF gene, located on chromosome band 3p14.1-p12.3, cause some cases of WS2. (medscape.com)

Some of the distinctive giraffe genes regulate metabolism, skeletal growth, and cardiovascular function. (answersingenesis.org)

Recently, researchers analyzed genetic data from 244,041 women to identify new gene variants linked to breast cancer. (medicalnewstoday.com)
The results increase by more than a third the total number of genetic variants linked to blood lipids. (medindia.net)

To identify genetic variants underlying such differences and associated disease phenotypes, multinational consortia such as ENIGMA have used large magnetic resonance imaging (MRI) data sets in human GWAS studies. (biomedcentral.com)

This wide range of natural variation raises the possibility that susceptibility to a subset of neurodegenerative and psychiatric disorders linked to defects in the hippocampus may depend, in part, on its initial healthy volume. (biomedcentral.com)
The one significant new breast cancer susceptibility gene MAP3K1 is estimated to explain 0.14% of breast cancer risk, and all other genes combined [accounted for less than 1% of increased risk]. (medicalnewstoday.com)
Despite more than ten years of utilizing next-generation sequencing techniques to investigate breast cancer susceptibility genes, more than 30% of the familial risk for breast cancer is still unidentified," said Dr. Gordon. (medicalnewstoday.com)

Retrieved December 3, 2018 from https://neurosciencenews.com/asd-stem-cell-120196/[/cbtab][cbtab title="Chicago"]University of Helsinki"Genetic Background of Autism Connected to Stem Cell Dysfunction. (neurosciencenews.com)

Downing said the analysis identified focal CNAs adjacent to genes previously linked to chromosomal translocations. (scienceblog.com)

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)
According to a new study, the risk for feeling lonely is partially due to genetics and these genes are also associated with neuroticism and depression. (neurosciencenews.com)

For example, the article overlooks some important genes, such as STK11 and TP53 , because of how rare they are in Europe. (medicalnewstoday.com)

We combine the largest human GWAS of brain structure with the largest mammalian model system, the BXD recombinant inbred mouse population, to identify novel genetic targets influencing brain structure variation that are linked to increased risk for neurological disorders. (biomedcentral.com)
We find that MGST3 is associated with hippocampus size and is linked to a group of neurodegenerative disorders, such as Alzheimer's. (biomedcentral.com)
NEW YORK (GenomeWeb) - Higher genetic risk scores for depression and other psychiatric disorders are associated with an increased risk of a diagnosis of depression within a general population cohort, a new study has found. (genomeweb.com)
Still, the researchers said that as the bipolar disorder and schizophrenia polygenic risk scores were associated with depression - though to a smaller extent than the depression polygenic risk score - this could support the notion that the disorders have a shared genetic etiology . (genomeweb.com)
Disorders of the autistic spectrum have been associated with hundreds of genetic variations, which have helped in identifying disturbed intracellular signalling pathways and molecular mechanisms typical to autism. (neurosciencenews.com)
These kinds of complex disorders are influenced by large numbers of genes, with each having a small individual effect, which is why we needed a very large sample size to get a clear picture of the genetic influences on these disorders," Thorp said. (ndtv.com)
In an extension of the study, the researchers then explored in what regions of the human genome the genes were located to identify regions that had not previously been linked to the disorders. (ndtv.com)
Some genetic disorders are hereditary and others are spontaneous. (msdmanuals.com)
Hereditary genetic disorders are passed down from generation to generation. (msdmanuals.com)
Spontaneous genetic disorders are not passed down from one generation to another, but they occur when genetic material in the father's sperm or mother's egg cells or in the cells of the developing embryo is damaged by chance or by drugs, chemicals, or other damaging substances (such as x-rays). (msdmanuals.com)
Testing for genetic disorders is offered to all women but is particularly important if a couple's risk is higher than normal. (msdmanuals.com)
Hereditary genetic disorders are disorders of chromosomes or. (msdmanuals.com)
Use of a new gene variant test can greatly reduce the incidence of cutaneous adverse reactions to carbamazepine , a drug used in a broad range of neurologic disorders, a new study shows. (medscape.com)

Migraines Linked To Breast Cancer? (medicaldaily.com)
Genes Chromosomes Cancer, 2002 Sep. (nih.gov)
Further research is needed to know how variants on these genes affect breast cancer risk. (medicalnewstoday.com)
How much rare coding variants in other genes account for breast cancer risk remains largely unknown. (medicalnewstoday.com)
Understanding more about different breast cancer genes could improve the accuracy of genetic testing for predicting breast cancer risk. (medicalnewstoday.com)
They found evidence for several new breast cancer risk genes and potential evidence for others. (medicalnewstoday.com)
The study helps to identify additional genes that could be inherited and increase risk or explain family history of breast cancer. (medicalnewstoday.com)
For the study, the researchers analyzed genetic data from 26,368 women with breast cancer and 217,673 without. (medicalnewstoday.com)
After analyzing the data, they identified 30 genes linked to breast cancer, of which six were particularly significant. (medicalnewstoday.com)
When the researchers restricted their analysis to patients ages 50 years and younger, they identified 40 genes linked to breast cancer. (medicalnewstoday.com)
She added that the study did not take into account how lifestyle factors such as obesity or alcohol consumption may impact breast cancer risk or the expression of genes. (medicalnewstoday.com)
She noted that this means current genetic testing cannot account for many cases of breast cancer. (medicalnewstoday.com)
The most comprehensive analysis yet of the genome of childhood acute myeloid leukemia (AML) found only a few mistakes in the genetic blueprint, suggesting the cancer arises from just a handful of missteps, according to new findings from St. Jude Children's Research Hospital. (scienceblog.com)
This study reflects the push to chart the genetic changes that free cells from normal controls and allow the uncontrolled cell division that is a hallmark of cancer. (scienceblog.com)
Despite the low overall number of lesions in the patients studied, novel recurring regions of genetic alteration were identified that harbor known and potential new cancer genes. (scienceblog.com)
Genes encoding DAN mismatch repair enzymes are implicated in hereditary nonpolyposis colon cancer. (mindmeister.com)

These observations suggest genetic variants can decrease mRNA expression levels by increasing usage of intronic PAS. (elifesciences.org)
NCBI Gene Expression Omnibus, GSE138197. (elifesciences.org)
Sanna believes future research should focus on exactly how Nf1 regulates the GABA system and how gene expression may be altered during early development. (scripps.edu)
Two-thirds of these are regulatory genes-genes that govern the expression of other genes. (answersingenesis.org)
Gene expression profiles from 128 adult patients with newly diagnosed ALL were characterized using high-density oligonucleotide microarrays. (aacrjournals.org)
T-lineage ALL was characterized by a homogeneous gene expression pattern, whereas several subgroups of B-lineage ALL were evident. (aacrjournals.org)
BCR/ABL + gene expression pattern was more heterogeneous and was most similar to ALL without known molecular rearrangements. (aacrjournals.org)
Supervised analysis of kinase genes revealed a high-level FLT3 expression in a subset of cases without molecular rearrangements. (aacrjournals.org)
For the purpose of choosing prognostic genes, the expression of oxidative stress-related genes (OXEGs) was found. (hindawi.com)

Couples can also ask their doctor to determine whether their risk of having a baby with a hereditary genetic abnormality is higher than average. (msdmanuals.com)
Genetic Screening Before Pregnancy Genetic screening is used to determine whether a couple is at increased risk of having a baby with a hereditary genetic disorder. (msdmanuals.com)

Little is known about co-transcriptional or post-transcriptional regulatory mechanisms linking noncoding variation to variation in organismal traits. (elifesciences.org)
To begin addressing this gap, we used 3' Seq to study the impact of genetic variation on alternative polyadenylation (APA) in the nuclear and total mRNA fractions of 52 HapMap Yoruba human lymphoblastoid cell lines. (elifesciences.org)
Variation in hippocampal volume has been linked to significant differences in memory, behavior, and cognition among individuals. (biomedcentral.com)
In addition, mapping studies in mouse model systems have identified genetic variants for brain structure variation with great power. (biomedcentral.com)
In the current study, we examined the underlying experiential, genetic, and neuroanatomical basis of mutual eye gaze variation in adult captive chimpanzees. (nature.com)
This study reveals that non-genetic factors, and to a lesser extent, genetic factors appear to influence mutual eye gaze in adult chimpanzees, and is the first to report neuroanatomical correlates of mutual eye gaze variation in chimpanzees. (nature.com)
First, though there is widespread comparative interest in gaze-related behavior, such as mutual eye gaze and gaze following in nonhuman primates, there are few studies that have examined the potential role of genetic factors underlying individual variation in relatively large cohorts of individuals. (nature.com)
People with a variation of the DRD2 gene are more resilient to the effects of sleep deprivation when completing tasks that require cognitive flexibility, a new study reports. (neurosciencenews.com)

Changes in and around genes cause conditions to occur within members of the same family in certain patterns, called autosomal "dominant," autosomal "recessive," and X-linked "recessive. (cdc.gov)

In this study we are specifically looking at a subset of homologous genes, orthologs, which derive from a speciation event, rather than paralogs, which arise because of a gene duplication event. (biomedcentral.com)

APC, a tumor suppression gene altered in familial adenomatous polyposis. (mindmeister.com)

Figure 3 shows how children get their chromosomes and, therefore, their genes and DNA from their parents. (cdc.gov)
If the gene is part of one of the first 22 pairs of chromosomes, called autosomes, the genetic condition is called an "autosomal" condition. (cdc.gov)

This method also ensures the translational relevance, giving confidence to the human results, as the same gene controlling the same phenotype is found in a related species. (biomedcentral.com)
In this experiment, which simulated the transition to excessive drinking that is associated with alcohol dependence in humans, they found that mice with functional Nf1 genes steadily increased their ethanol intake starting after just one episode of withdrawal. (scripps.edu)
Investigating further, the researchers found that in mice with partially deleted Nf1 genes, alcohol consumption did not further increase GABA release in the central amygdala. (scripps.edu)
The researchers found that, compared to other mammals, the giraffe has multiple distinctive differences in 70 of its genes. (answersingenesis.org)
They found several new genes that may be linked to the condition. (medicalnewstoday.com)
In addition, the researchers found that TMEM106B -- a gene whose presence previously had been identified as possibly protecting against age-related frontotemporal lobar degeneration -- also may play a role in brain resilience. (news-medical.net)
As they reported today in JAMA Psychiatry , the researchers found a link between polygenic liability and first depressive episode. (genomeweb.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)
While many genes are shared between anxiety and depression, we also found genes that are specific to each disorder," he added. (ndtv.com)
This analysis found that genetic variations that increase triglyceride or LDL-cholesterol levels are also associated with higher incidence of heart disease. (medindia.net)
A gene variant, HLA-B*15:02 , found in the Han Chinese in China, Taiwan, and Hong Kong, and the Thai, Indian, and Malay populations and linked to these adverse reactions, has previously been identified, and genetic testing in these populations is now recommended before carbamazepine is prescribed. (medscape.com)

The present study investigated the neuroligin 3 gene in the Indian autistic population by sequencing and in silico pathogenicity prediction of molecular changes. (genominfo.org)
Therefore, neuroligin is a candidate gene for future molecular investigations and functional analysis in the Indian autistic population. (genominfo.org)
These genes should be studied further to expand our understanding of molecular mechanisms relevant to cognitive resilience that could be translated into prognostic and therapeutic tools for dementia prevention,' the researchers write in the paper's summary. (news-medical.net)

In addition to showing that Nf1 is key to the regulation of the GABA, the research, which was published recently in the journal Biological Psychiatry , shows that variations in the human version of the Nf1 gene are linked to alcohol-dependence risk and severity in patients. (scripps.edu)
Researchers have long sought a gene or genes that might be responsible for risk and severity of alcohol dependence. (scripps.edu)
Despite a significant genetic contribution to alcohol dependence, few risk genes have been identified to date, and their mechanisms of action are generally poorly understood," said TSRI Staff Scientist Vez Repunte-Canonigo, co-first author of the paper with TSRI Research Associate Melissa Herman. (scripps.edu)
This research showed that Nf1 is one of those rare risk genes, but the TSRI researchers weren't sure exactly how Nf1 affected the brain. (scripps.edu)
The results showed an association between the gene and alcohol-dependence risk and severity. (scripps.edu)
Genetic testing can be used to assess risk for the condition. (medicalnewstoday.com)
Current tests consider risk variants on a small number of genes, including BRCA1 , BRCA2 , and PALB2 . (medicalnewstoday.com)
They also noted that polygenic risk scores for bipolar disorder and schizophrenia were also associated with depression, suggesting a genetic overlap between the conditions. (genomeweb.com)
These links between genetic risk of bipolar disorder or schizophrenia and depression, the researchers said, could reflect that many individuals with bipolar disorder and schizophrenia are diagnosed with depression early in their illnesses. (genomeweb.com)
Sydney- Indulging in moderate-to vigorous-intensity physical activity like gardening, dancing, cycling could lower the risk of Type-2 diabetes, even in people with a high genetic risk of developing the medical condition, new research has revealed. (indianewengland.com)
This was even when other factors, including genetic risk, were accounted for. (indianewengland.com)
We are unable to control our genetic risk and family history, but this finding provides promising and positive news that through an active lifestyle, one can 'fight off' much of the excessive risk for Type-2 diabetes," said Melody Ding, Associate Professor from the varsity's Charles Perkins Centre and the Faculty of Medicine and Health. (indianewengland.com)
People with a high genetic risk score had 2.4 times the risk of developing Type-2 diabetes when compared with those with a low genetic risk score. (indianewengland.com)
Further, the study showed that participants with a high genetic risk, but who were in the most physically active category, actually had a lower risk of developing Type-2 diabetes when compared with those with a low genetic risk but in the least active category. (indianewengland.com)
A global hunt for genes that influence heart disease risk has uncovered 157 changes in human DNA that alter the levels of cholesterol and other blood fats. (medindia.net)
The GLGC is focused on finding, cataloging and analyzing genetic variations that modify blood lipids and heart disease risk. (medindia.net)
Researchers have identified four genes, ESR1, DCC, DRD2, and TRAF3, that are associated with an increased risk of suicidal thoughts and actions. (neurosciencenews.com)
Of these genes, five were overlapped, eight were associated with heavy consumption and five were linked to an increased risk of AUD. (neurosciencenews.com)
Study finds a sex difference in a gene linked to substance abuse risk in adolescents. (neurosciencenews.com)
Researchers report on a link between the dopamine system and initiating joint attention in children at high risk for autism. (neurosciencenews.com)
Before women become pregnant, they and their partner should speak with their health care practitioner about their risk of having a baby with a genetic disorder. (msdmanuals.com)

After more than four decades of intensive research, the cellular origins of acute lymphocytic leukemia (ALL) have been well defined, and several distinct genetic mechanisms that lead to malignant transformation of these cells have been identified ( 1 - 4 ). (aacrjournals.org)

Now researchers have discovered two genes, known as UNC5C and ENC1, that are associated with aging individuals having better memory and brain function than would be expected, given the amount of pathologies that accumulated in their brains. (news-medical.net)
Identifying genes that contribute to resistance to these and other brain pathologies could provide researchers with new targets for developing medications that would enhance the brains of aging adults to resist Alzheimer's disease and other neurological conditions, Bennett says. (news-medical.net)
The researchers drew on a vast trove of data, including genetic analyses, generated by two ongoing long-term studies of aging based at Rush University Medical Center, which includes study participants' donation of their brains for research after their death. (news-medical.net)
Does Our Environment Affect the Genes in Our Brains? (neurosciencenews.com)

The authors then used an improved statistical test to determine whether individuals in the study had more mutations in the same gene than they would expect to occur by chance. (sciencedaily.com)
What kinds of mutations have to occur to cause a genetic disease? (sciencebuddies.org)

There does not seem to be a single genetic pathway to CRC. (mindmeister.com)

The study highlights the link between mental health condition depression and anxiety. (ndtv.com)
It has identified 509 genes that influence both depression and anxiety. (ndtv.com)
New Australian research, led by QIMR Berghofer Medical Research Institute, has identified 509 genes that influence both depression and anxiety - confirming a genetic relationship between the mental health conditions. (ndtv.com)
The study findings have been published overnight in the prestigious journal Nature Human Behaviour, and are the first to identify so many genes that are shared between depression and anxiety. (ndtv.com)
Not a lot has been known, until now, about the genetic causes of why people may suffer from depression and anxiety. (ndtv.com)
We identified 674 genes associated with either depression or anxiety - and importantly about three-quarters of those genes were shared," Professor Derks said. (ndtv.com)
Lead researcher from QIMR Berghofer's Translational Neurogenomics Group Jackson Thorp said that they examined the genetic relationship between 28 individual symptoms related to depression and anxiety to understand how they overlapped. (ndtv.com)
Thorp said that some of the genes that are unique to depression were linked to higher levels of the fat triglyceride in the blood - a condition called hypertriglyceridemia. (ndtv.com)
The link between those depression-specific genes and hypertriglyceridemia suggests there may be a metabolic component of depression that is not as strong in anxiety," Thorp said. (ndtv.com)

Genetic conditions can be further grouped based on who they affect in families. (cdc.gov)

FraX is the most common cause of genetic mental retardation and a variant of the autistic spectrum. (neurosciencenews.com)
More recently, a second variant - HLA-A*31:01 - linked to cutaneous adverse drug reactions with carbamazepine has been identified in these populations. (medscape.com)
The current study is the first to proactively test for this gene variant and use it to guide treatment decisions. (medscape.com)
For the study, neuropsychiatrists were asked to prescribe carbamazepine for patients who tested negative for the HLA-A*31:01 gene variant and alternative drugs for those who tested positive for the variant. (medscape.com)

The aetiology of autism is largely unknown, but many studies have shown that genetic factors play a major role, along with environmental factors. (genominfo.org)
The genetic architecture of autism is complex. (genominfo.org)
cbtabs][cbtab title="MLA"]University of Helsinki"Genetic Background of Autism Connected to Stem Cell Dysfunction. (neurosciencenews.com)

From Genes to Genetic Diseases: What Kinds of Mutations Matter? (sciencebuddies.org)
Determine why some gene mutations cause genetic diseases, but others do not. (sciencebuddies.org)

Finally, heritability analyses revealed mutual eye gaze to be modestly heritable and significant genetic correlations between bout length and two gray matter covariation components. (nature.com)

We first use a novel cross-species, comparative analysis using mouse and human genetic data to identify a candidate gene, MGST3, associated with adult hippocampus size in both systems. (biomedcentral.com)

To identify point mutations, the researchers also performed DNA re-sequencing of 25 genes that are commonly mutated in adult AML. (scienceblog.com)

A novel gene, MDS2, is fused to ETV6/TEL in a t(1;12)(p36.1;p13) in a patient with myelodysplastic syndrome. (nih.gov)

In contrast, in mice with functional Nf1 genes, alcohol consumption resulted in an increase in central amygdala GABA. (scripps.edu)

Prior efforts to identify genetic variants underlying differences in brain structure have used large data sets in human genome-wide association studies (GWAS) or extensive mapping populations in mouse model systems. (biomedcentral.com)
Observational study, meta-analysis, and genome-wide association study of gene-disease association. (nih.gov)
The Human Genome Project has estimated that the human genome contains around 20,000 to 25,000 genes . (sciencebuddies.org)
Then they conducted a complex, multiple step analysis 'to identify segments of the human genome (i.e, genes) that help us to maintain cognitive function in the face of advancing age and disease,' explains study senior investigator Philip De Jager, MD, PhD, professor of neurology at Columbia University Medical Center. (news-medical.net)

Genes are the basic blocks of information that all of the body's cells use to do what they are supposed to do. (cdc.gov)
For example, genes tell heart cells how to beat, stomach cells how to digest food, and muscle cells how to move. (cdc.gov)
When DNA bases are missing, changed, or out of order, instructions for gene are changed so that they can't provide the information that cells need. (cdc.gov)

Conversely, our results showed that some of the genes specific to anxiety were related to blood pressure, which is consistent with previous research that has shown a link between the disorder and hypertension. (ndtv.com)

The complement of genetic lesions varies across the different genetic subtypes of AML, but there are very few lesions in total. (scienceblog.com)

In the second part of the study, a collaboration with a distinguished group of geneticists at various U.S. institutions, the team analyzed data on human variations of the Nf1 gene from about 9,000 people. (scripps.edu)
They used sophisticated computing and statistical techniques to search for genetic variations that modify blood lipid levels. (medindia.net)

We then establish the coregulation and function of this gene in a comprehensive systems-analysis. (biomedcentral.com)
But because many conditions are extremely rare, the statistical analysis used to locate these genes requires large volumes of anonymised patient data that has not always been easily accessible. (sciencedaily.com)

The genetic variants he and his colleagues measured can explain only about 11 percent of the variability between people in educational attainment. (technologyreview.com)
At least three mutations in the ABCB7 gene have been identified in people with X-linked sideroblastic anemia with ataxia. (medlineplus.gov)
This change can alter the way that the gene works so that people with this DNA change will have a particular condition. (cdc.gov)
In people with cystic fibrosis, the mutated CFTR gene creates a channel that does not function, and consequently the flow of water in tissues is abnormal. (sciencebuddies.org)

Homologous genes are genes that share a common evolutionary ancestor. (biomedcentral.com)

Further, this approach illustrates that the homologous mouse gene is relevant to the human phenotype, as well as the significance of experimental research in model systems that would not be possible in humans. (biomedcentral.com)

Each of the changes points to genes that can modify levels of cholesterol and other blood fats and are potential drug targets. (medindia.net)

The specific order, or sequence, of all the As, Cs, Ts, and Gs in DNA determines the exact information carried in each gene, like the way that a specific pattern of letters makes up the words in a sentence. (cdc.gov)
Suppose part of a gene usually has the sequence GTAC. (cdc.gov)

The better our understanding of the genetic basis of these psychiatric conditions, the more likely we are to be able to treat them," he added. (ndtv.com)

These changes can cause various conditions, depending upon the types of changes and the genes involved. (cdc.gov)
What Are the Different Ways Genes Can Cause Conditions in Children? (cdc.gov)

Conversely, mice with a partially deleted Nf1 gene showed no increase in alcohol consumption. (scripps.edu)

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)

Evidence suggests that the MITF gene transactivates the tyrosinase gene, which is involved in melanocyte differentiation. (medscape.com)

Anatomy9

Organisms7

Diseases5

Chemicals and Drugs24

Analytical, Diagnostic and Therapeutic Techniques and Equipment16

Psychiatry and Psychology3

Phenomena and Processes33

Disciplines and Occupations1

Anthropology, Education, Sociology and Social Phenomena2

Information Science7

Named Groups1

Health Care2

Protein11

Person's4

Deoxyribonucleic acid2

Alterations3

Scientists8

Mutation10

Genomic2

Developmental disorders9

Abnormalities8

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Proteins1

Loci1

1,0002

Chromosome4

Regulate1

Variants linked2

Phenotypes1

Susceptibility3

20181

Chromosomal1

Genetics2

STK111

Disorders13

Cancer16

Expression9

Hereditary2

Variation8

Patterns1

Subset1

Familial1

Chromosomes2

Found11

Molecular3

Risk21

Mechanisms1

Brains4

Occur2

Pathway1

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Affect1

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Autism3

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Suggests1