Sentences with phrase «single genes known»

Not exact matches

There is no single mutation that causes Alzheimer's, says Wild, but we know of several gene variations that increase the risk of the disease.

Many are known to be caused by mutations in single genes, yet for the vast majority no treatments are available.

A single miRNA can ramp down expression of multiple genes — but the number of genes affected by known miRNAs hasn't been determined.

This process known as «alternative splicing» and allowing a single gene to generate multiple protein variants is especially prevalent in the mammalian brain.

Their preliminary analysis revealed several mutations known as single nucleotide polymorphisms (SNPs) in the ALR gene, many of which haven't been identified before.

Tadashi Matsunaga at the Tokyo University of Agriculture and Technology in Japan and his colleagues singled out the genes by comparing well - known magnetic bacteria to a distantly related magnetic species.

Using a technique known as single - cell RNA sequencing, the team explored more than 65,000 individual cells that exist under normal or inflammatory conditions, looking for genes that were more active in one state or subpopulation versus another.

Researchers know that cells chop single genes into shorter pieces called exons, which they mix and match into one transcript for creating a protein.

The researchers found that the blond hair commonly seen in Northern Europeans is caused by a single change in the DNA that regulates the expression of a gene that encodes a protein called KITLG, also known as stem cell factor.

«What is so remarkable about dati is that females that are mutant for just this single gene can never decide to accept males, no matter how hard the males try to impress them» says Joseph Schinaman, a PhD student and first author of the publication.

The Werner gene — then known to be a single gene, although what genes were exactly was not known — produced characteristic features, including short stature and a squeaky voice.

Rather than measuring genetic changes directly (such as single nucleotide polymorphisms, otherwise known as SNPs), McKee and her group typically do RNA expression profiles on patients to see what genes are being expressed.

Single - cell differential gene expression analysis revealed a spectrum of known transcripts, including several linked to cytotoxic and costimulatory function that are expressed at higher levels in the TEMRA (effector memory T cells expressing CD45RA) subset, which is highly enriched for CD4 - CTLs, compared with CD4 + T cells in the central memory (TCM) and effector memory (TEM) subsets.

About 10 to 15 percent of people with autism have a disorder linked to a known single - gene mutation, such as fragile X syndrome, or chromosomal alterations.

The researchers, led by Dr Charles Wondji, used a wide range of methods to narrow down how the resistance works, finding a single mutation in the GSTe2 gene, which makes insects break down DDT so it's no longer toxic.

They found that during evolution, a reshuffling of DNA known as translocation brought together separate chunks of sex - determining genes onto a single chromosome, essentially mimicking the human X or Y chromosome.

For more than two decades we've known that a single gene on the Y chromosome, called Sry, is responsible for male sex determination.

It's now known that single gene mutations in other organisms can lengthen life span.

Other medical sequencing projects will use DNA sequencing to: discover new genes that are involved in common diseases; identify the genes responsible for dozens of relatively rare, single - gene (autosomal Mendelian) diseases; sequence all of the genes on the X chromosome from affected individuals to identify those involved in sex - linked diseases; and survey the range of variants in genes known to contribute to certain common diseases.

The researchers discovered a single letter variant located in TP53, a gene known to play a central role in tumor biology and for accumulating so called somatic mutations, during the development of cancer in patients.

Fragile X is the most common known single - gene cause of autism and the most common inherited cause of intellectual disability.

The condition is more common than muscular dystrophy and cystic fibrosis, but the development of new therapeutic concepts is hindered by the fact that unlike muscular dystrophy and cystic fibrosis, where a single mutated gene causing the disease is known, the entire human chromosome 21 (containing around 300 genes) still has to be dissected into individual gene - dose contributions to the DS symptoms.

In each case they checked tiny sites of known DNA - sequence variations — «single nucleotide polymorphisms» — that mark common gene variants.

Human pluripotent stem cells (hPSCs), including human embryonic stem cells (hESCs) and human induced pluripotent stem cells (hiPSCs), are known to be vulnerable to apoptosis upon various technical manipulation, such as single cell dissociation, freezing and thawing, etc., which hinder their use for clonal isolation in gene transfer, differentiation and FACS cell sorting.

The researchers chose to explore its potential in mice with a dominant cataract disorder caused by a single copy of a gene known as Crygc.

To avoid these problems, the team used sequence data to create a list of single DNA letter changes, known as SNPs, which can be reliably identified in the gene - rich areas of the genome.

They did their best to filter out genes known to have random monoallelic expression, single - allele expression due to sequence variants, or RNA patterns that might look like monoallelic expression due to technical issues with the sequencing.

In a new study, Sklar and her colleagues are scanning 500,000 gene variants, known as single nucleotide polymorphisms, obtained from a sampling of patients with bipolar disorder.

Phenotypes that result from changes (i.e., variants) in a single gene (i.e., monogenic) and that can be transmitted from parents to offspring in Mendelian patterns, such as autosomal dominant, autosomal recessive, X-linked, are known as Mendelian phenotypes.

The most common genetic killer of infants, a disease known as spinal muscular atrophy, is caused by mutations in a single gene.

To date, the program has brought three scientists from broad disciplines to the Institute to trigger innovation and collaboration in single - particle cryo - electron microscopy, three - dimensional genomic organization and the gene editing technology known as CRISPR.

Take cystic fibrosis, a genetic disease that creates a life - threatening accumulation of mucus in the lungs and is known to result from a single mutation in a single gene.

The paucity of single nucleotide diversity among breeds is consistent with other studies (29 — 32) and stands in stark contrast to the abundance of coding repeat variation we found in these same genes known to be involved in the developmental processes under selection in the radiation in dog breed morphologies.

We also know that the nucleotides within a gene are lined up in a single continuous chain.

In addition, True Health offers the ability for clinicians to test individual, single - site genes as needed for patients with specific mutations known in the family.

It is well known that purebred dog breeds are associated with differing susceptibility to specific malignancies, suggesting that selected breeds of dog are inheriting «at risk» alleles for very few genes, perhaps even a single gene, with a profound effect.

This led to the eventual identification of a single nucleotide substitution in the second codon of a previously unknown gene that is now known to be the cause of PRCD in at least 18 different breeds [23].

Because the affected dogs did not share common alleles, we excluded single, fully penetrant mutations in six known canine retinal disease genes: BEST1 [8], [9], PDE6B and PDE6A [23]--[26], RPE65 [6], [7], NPHP4 [28], and CNGB3 [29], [30].