Sentences with phrase «cell mutation affects»

Over half a century ago, scientists realized that's because the sickle cell mutation affects only the «adult» version of hemoglobin.

Not exact matches

McCallion's strategy to make sense of all this data looks at the active genes in cells affected by a disease, groups of genes that interact with one another, their vulnerability to mutation and information from past scientific studies to filter more than a thousand gene candidates for disease risk down to just a handful within any one implicated region.

At best, the scientists say, there is a 50 - 50 chance that the gene closest to a mutation will even be active in the cell types affected by a disease.

He identified gene mutations in breast cancer cells that affect their ability to recognize viruses, including some mutations that would be expected to significantly increase the cells» vulnerability to viruses implicated in breast cancer.

It does this by triggering processes that either repair such mutations, or instruct an affected cell to stop dividing or even commit suicide.

The data indicate that the HD mutation directly affects membrane dynamics, cell attachment and cell motility.

(Previously, scientists had used CRISPR / Cas9 to repair mutations that affect smaller numbers of people with Duchenne, and in cell types that weren't necessarily clinically relevant.)

The 1917 virus had infection and mortality rates typical of seasonal flu, but a single mutation in the proteins affecting how the virus binds to a host cell may have led to the deadly 1918 wave, which killed more than 50 million people worldwide.

Most mutations in C. elegans affect both life span and reproduction, which had led scientists to believe that body cells and female reproductive cells aged according to the same clock.

It arises from mutations affecting cells, called melanocytes, that produce the pigment melanin, which gives color to those body parts.

This is important because the proportion in which the de novo mutation is present in a patient, as well as the type of cells in which it occurs, may not only determine the clinical outcome of a disease for the patient, but also affect the risk of the parents having another child with the same disease in future pregnancies.

«One of the major and immediate downstream effects of myc activation is a dramatic increase in the capacity of affected cells to make protein,» Ruggero said «This, in turn, leads to increased cell survival and proliferation, and to unstable genomes that foster additional mutations that turn these abnormal cells into tumor cells.»

In the early 2000s, cell biologists linked cyst formation to gene mutations that affect the primary cilia, hair - like projections from cells that seem to act as sensory antennae.

Moreover, this CRISPR technique may eventually be an important intervention in situations where parents want to have a genetically related child but have a homozygous condition — say both parents have two copies of a disease - causing mutation like that which causes sickle cell — which would result in all embryos being affected by the disorder.

Enamel defects can be caused by genetic mutations affecting either the STIM1 calcium sensor in the endoplasm reticulum or in the ORAI channel in the cell membrane.

Each of the four families had a distinct mutation that affected a different region of the CARD11 protein, but all the mutations had similar effects on T - cell signaling.

Xinde Zheng, a research associate in the Hunter lab, was already studying the properties of cells affected by Leigh syndrome, whose inherited neurodegeneration is caused by a mutation in mitochondrial DNA that reduces ATP production.

The technique picks up somatic mutations that affect just a fraction of the brain's cells, in a «mosaic» pattern.

DNA sequences were once thought to be identical from cell to cell, but it's increasingly understood that mutations can arise during brain development that affect only certain groups of brain cells.

Unlike genetic mutations that affect DNA and the genome, epigenetic markers turn genes on and off to regulate cell processes, which if altered may lead to disease, he explains.

Somatic brain mutations, affecting just pockets of cells, can be harmful, and have been suggested as a possible cause of neurodevelopmental disorders such as autism, epilepsy or intellectual disability (see this review article for further background).

«This tells you that all the different types of stromal cells in breast tissue are affected by the GT198 mutation because they all come from a common progenitor cell.»

The yeast cells, he found, had a mutation affecting a growth pathway similar to the defective one in Laron cases.

«You can see they are very active and affect the DNA in the tumor tremendously, causing lots of mutations that may further the cells» uncontrolled growth, says Alon Keinan, a computational biologist at Cornell University.

Research from other scientists at Johns Hopkins, he says, had suggested that some tumors, particularly those that affect the nervous system, have mutations in the ATRX gene, which produces proteins that appear to maintain the length of telomeres, repetitive segments of DNA on the ends of chromosomes that typically shorten each time a cell divides.

Such mutations often affect proteins in the membranes of immune cells, which help them to get to sites of inflammation.

The team also found that the flightless cormorants have an abnormally high number of genetic mutations affecting cilia — small, hair - like structures that protrude from cells and regulate everything from normal development to reproduction.

Casanova and colleagues also wanted to gauge how the mutations affected cells that are attacked by the virus.

By performing DNA sequencing of more than 4,000 families affected by neurological problems, the two research teams independently discovered that a disease marked by reduced brain size and sensory and motor defects is caused by a mutation in a gene called CLP1, which is known to regulate tRNA metabolism in cells.

Scientists are beginning to understand that genetic mutations are not the sole contributors to disease development and that the way in which genes are arranged in our cells can affect whether they function appropriately — that is, whether they are turned on or off.

«The Vienna team of Dr. Javier Martinez, also a co-corresponding author on the study, could actually show that mutations in CLP1 affect tRNA biogenesis and that CLP1 mutant brain stem cells become more apoptotic (invoking cell death).

The work was performed in collaboration with Arjan Narbad's lab at the Institute of Food Research in Norwich, UK, who tested how engineering mutations in the endolysins affected their ability to tear down the bacterial cell wall.

The mutation, which has been found in people with ADHD, autism and bipolar disorder, affects the function of DAT, a protein that regulates the brain's supply of the neurotransmitter by removing excess dopamine from the synapse, or the space between nerve cells.

From a basic research perspective, we have found the first example of a tumor - initiating mutation that directly affects how cells divide, causing chromosomal instability.

Simon's strategy is to compare the effects of a drug on a normal strain of yeast and a strain with a mutation in one of the many genes that affect normal cell division - a property that is disrupted in cancerous cells.

pigk Mutation underlies macho behavior and affects Rohon - Beard cell excitability.

They inherit a mutation that affects the hemoglobin protein that red blood cells use to ferry oxygen throughout the body.

Their next steps are to characterize how these treatments affected NK cell function as well as determine the reactivity of patients» T cells against tumor mutations.

NMDA receptors are complicated machines: mutations can affect how well they bind their ligands (glutamate and glycine), how they open and shut, or how they are processed onto the cell surface.

In the next decade, molecular research is going to further develop along five lines: predictive medicine, that investigates the genetic conditions predisposing to tumor risk; early molecular diagnosis; the evaluation of each patient's prognosis based on his / her genetic profile, in other words, the analysis of what kind of mutation affects the DNA of altered cells; the investigation of the individual response to drugs, based on our genetic knowledge; «smart drugs», molecules able to hit the target in a selective way, killing only the deprogrammed cells.»

Three leukemias that affect as many as 100,000 people in the United States are all caused by acquired mutations that alter a specific enzyme controlling blood cell proliferation, according to new...

The technical evaluation of projects may require the provision of additional data such as information on the genetic modification of your mutant mouse line if applicable (e.g. affected gene, MGI ID of the gene, type of mutation, ES - cell line used, genetic background (e.g. number of backcross generations), safety level, description of DNA modification, vector, remaining non-recipient DNA, donor organism), mutant phenotype (s), special housing or care requirements, current sanitary status, and intellectual property rights (who generated the mouse line, owner of the mouse line)

While the promoter mutations were not near known pancreatic cancer genes, the team discovered that they affected some of the same biological pathways inside cells.

This is in accordance with previous reports that decitabine and 5 - azacytidine produce a marked synergistic effect in combination with suberoylanilide hydroxamic acid and romidepsin in T - lymphoma cell lines by modulating cell cycle arrest and apoptosis.26, 27 As a mechanism of action, KMT2D mutations of B - lymphoma cells promote malignant outgrowth by perturbing methylation of H3K4 that affect the JAK - STAT, Toll - like receptor, or B - cell receptor pathway.28, 29 Here our study indicated that dual treatment with chidamide and decitabine enhanced the interaction of KMT2D with the transcription factor PU.1, thereby inactivating the H3K4me - associated signaling pathway MAPK, which is constitutively activated in T - cell lymphoma.13, 30,31 The transcription factor PU.1 is involved in the development of all hematopoietic lineages32 and regulates lymphoid cell growth and transformation.33 Aberrant PU.1 expression promotes acute myeloid leukemia and is related to the pathogenesis of multiple myeloma via the MAPK pathway.34, 35 On the other hand, PU.1 is also shown to interact with chromatin remodeler and DNA methyltransferease to control hematopoiesis and suppress leukemia.36 Our data thus suggested that the combined action of chidamide and decitabine may interfere with the differentiation and / or viability of PTCL - NOS through a PU.1 - dependent gene expression program.

Various forms of the disease stem from 24 currently recognized genetic mutations, each of which affects the function of retinal cells.

Over the years the mutations and the cells they affect have led us to study new channel proteins, new transcription factors, neurodegeneration, microtubule function and structure, neuronal outgrowth, insulin signaling, cellular ensheathment, and touch sensitivity to give just a partial list.

a. Mechanism - guided therapeutic strategies for genetic alterations that affect the SWI / SNF chromatin remodeling complex in epithelial ovarian cancer (such as ARID1A mutation in clear cell and endometrioid subtypes of ovarian cancer, and CARM1 amplification / overexpression in high - grade serous ovarian cancer).

Sickle cell disease affects about 100,000 Americans, and it's caused by a single genetic mutation that must be inherited from both a patient's mother and father.

However, the germline - specific requirement excludes that the rum mutation affects a follicle cell function needed for Tor signaling.

The focus of the conference was connecting how epigenetics (cellular and physiological phenotypic trait variations that are caused by external or environmental factors that switch genes on and off and affect how cells read genes instead of being caused by changes in the DNA sequence — in other words nutrition and lifestyle choices) impact whether or not an individual actually develops a specific health issue even though they have a SNP mutation.