Sentences with phrase «mutations in protein»

Scientists from the Gladstone Institutes identified that mutations in a protein commonly linked to frontotemporal dementia (FTD) result in obsessive - like behaviors.

Ya Ha, an associate professor of pharmacology at the Yale University School of Medicine explains that genetic mutations in the protein presenilin are known to cause Alzheimerâ $ ™ s disease.

Mutations in the protein, otoferlin, are linked to severe congenital hearing loss, a common type of deafness in which patients can hear almost nothing.

This healthy mitochondrial «sex» is impaired in this disease because of mutations in a protein called mitofusin2, which governs mitochondrial fusion.

Compared with mutations in protein - coding regions, variants in regulatory regions usually have «smaller but additive effects.

Utpal Banerjee of UCLA is running a research program looking a mutations in proteins in Drosophila eyes.

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.

Grasshopper mice have a mutation in protein Nav1.8 that prevents this signal from reaching the brain.

A rare and improbable mutation in a protein encoded by an influenza virus renders the virus defenseless against the body's immune system.

Meanwhile, The Washington Post also reports a new potential method of forensic analysis using hair that examines precise mutations in proteins instead of DNA.

The genome data uncovered mutations in proteins that are responsible for the circadian rhythm, which might explain why Eastern tiger swallowtails break free of their chrysalises right away instead of sleeping through the winter as their cousins the Canadian tiger swallowtails must do.

More than a decade ago, researchers discovered that individuals with an inherited sleep disorder often carry a particular mutation in a protein called PER2.

Scientists have been especially curious about the role of TTLLs because mutations in these proteins have been linked to a range of neurodegenerative diseases, including retinal dystrophy and the rare Joubert syndrome.

ALS can be caused by a mutation in a protein called SOD1, and the antisense drug effectively silences the gene that codes for this mutant protein — found in the cells of patients with inherited forms of ALS.

Mutations in those proteins can also cause ALS and related disorders.

Gladstone Senior Investigator Nevan Krogan, PhD, is studying how the proteins in neurons interact with each other and how mutations in the proteins lead to autism.

When other researchers studied the virus in patients with PML, they found a mutation in its protein shell, the part that allows it to bind to and infect human cells.

Not exact matches

Then, given your clearly profound understanding of the relevant science, you can explain how humans came to possess a defunct gene for egg - yolk proteins in our placental mammal genomes and why the presence of this dead gene and the mutations rendering it defunct map to the lineages observable in the fossil record?

For example, a few mutations in a critical binding pocket within the gamete receptors (the proteins that allow a male gamete to adhere to a female gamete) of various invertebrate marine organisms (these organisms simply discharge their gametes into the water in a blind shotgun mating strategy) can produce a reproductive isolation event between subpopulations.

Psuedogenes are remnants of genes that once served a purpose in our genome that they no longer fulfil, because of mutations that have rendered the genes nonfunctional, i.e., they no longer lead to the production of proteins (long chains of amino acids) that once contributed to specific characteristics in ancient ancestors.

Because of a naturally occurring genetic mutation in European herds, another milk protein, A1, appeared and spread worldwide due to human migration and modern farming practices.

The observation that loss - of - function mutations in DENND5A causes epileptic encephalopathy suggests that DENND5A protein controls membrane trafficking pathways critical for normal neuronal development and strengthens the argument that protein trafficking processes in cells are critical for normal neuronal development and function.

In nature, advantageous amino acid substitutions may be promoted by positive selection, but the general structural distributions of positively selected mutations and their effects on protein function remain poorly examined.

Then a team of Chinese researchers used that base editor to correct a mutation in human embryos that causes the blood disorder beta - thalassemia, reported September 23 in Protein & Cell (SN: 11/25/17, p. 7).

Other proteins such as histones are involved in the packaging of DNA or repairing the damage to DNA that causes mutations.

Baier looked at the genetic mutations in the «frozen» fish and found one in the glucocorticoid receptor, a protein that is found in almost every cell and that senses cortisol — a hormone involved in the stress response.

We found that the mutations in two amino acids out of more than 300 in one key region of the hemagglutinin protein were enough to lower efficacy to 19 percent against all circulating strains.»

In a 2009 study, Rodriguez found that in people, the mutation in the SCARB1 gene was associated with both higher levels of HDL and diminished amounts of the SRB1 proteiIn a 2009 study, Rodriguez found that in people, the mutation in the SCARB1 gene was associated with both higher levels of HDL and diminished amounts of the SRB1 proteiin people, the mutation in the SCARB1 gene was associated with both higher levels of HDL and diminished amounts of the SRB1 proteiin the SCARB1 gene was associated with both higher levels of HDL and diminished amounts of the SRB1 protein.

The genes responsible for these proteins undergo frequent point mutations, resulting in genetic «drift»; moreover, the genes from different animal and human strains may also interchange, resulting in genetic «shift.»

The SCARB1 mutation affects 43 percent of the population, and within this group the carriers for the rs10846744 variant have a 45 percent increased risk of heart attack — likely due to low LAG3 protein in their plasma.

Although mutations in several proteins can lead to inherited forms of the disease, nobody knows what triggers the overwhelming number of sporadic cases.

About one in 8,000 children is born with some form of SMA in which mutations in both copies of the gene that code for the survival motor neuron (SMN) protein cripples its production.

Friedman's group was able to track down the mutation in the obese mice and found that it blocked production of a particular protein hormone, which they named leptin.

In this special section of Science, expert contributors retrace the long and tortuous path leading to the mapping and identification of the BRCA1 gene; discuss the ways in which BRCA mutation status has been integrated into the clinical management of patients in high - risk families; and highlight the role of the BRCA proteins in preserving the structural and numerical integrity of chromosomes throughout the cell cycle, a function that may explain their tumor suppressor activitIn this special section of Science, expert contributors retrace the long and tortuous path leading to the mapping and identification of the BRCA1 gene; discuss the ways in which BRCA mutation status has been integrated into the clinical management of patients in high - risk families; and highlight the role of the BRCA proteins in preserving the structural and numerical integrity of chromosomes throughout the cell cycle, a function that may explain their tumor suppressor activitin which BRCA mutation status has been integrated into the clinical management of patients in high - risk families; and highlight the role of the BRCA proteins in preserving the structural and numerical integrity of chromosomes throughout the cell cycle, a function that may explain their tumor suppressor activitin high - risk families; and highlight the role of the BRCA proteins in preserving the structural and numerical integrity of chromosomes throughout the cell cycle, a function that may explain their tumor suppressor activitin preserving the structural and numerical integrity of chromosomes throughout the cell cycle, a function that may explain their tumor suppressor activity.

Changes in the normal function of Ras proteins — mutations which are responsible for 30 percent of all cancers — can power cancer cells to grow and spread.

Because of either a genetic mutation or environmental factors that affect how the gene directs the protein's development, some people's oxytocin receptors may be folded up in ways that prevent them from binding well to the hormone.

The disease results from a single mutation in the gene that codes for one of the protein chains that make up the hemoglobin molecule.

The researchers say that the mutation in codon 127 appears to confer protection by preventing prion proteins from becoming misshapen.

«These results further support our clinical findings demonstrating the production of full - length functional protein in nonsense mutation Duchenne muscular dystrophy and cystic fibrosis,» said Stuart W. Peltz, Ph.D., co-founder and chief executive officer of PTC Therapeutics.

In these and other inherited diseases, 10 to 15 percent of the single - base pair mutations that cause the disease create a misplaced, premature «stop» codon in the middle of the gene — causing the machinery of the cell to prematurely halt synthesis of the protein, which destroys its ability to functioIn these and other inherited diseases, 10 to 15 percent of the single - base pair mutations that cause the disease create a misplaced, premature «stop» codon in the middle of the gene — causing the machinery of the cell to prematurely halt synthesis of the protein, which destroys its ability to functioin the middle of the gene — causing the machinery of the cell to prematurely halt synthesis of the protein, which destroys its ability to function.

In an additional group of endometriosis samples biopsied from 15 women at the University of British Columbia, the scientists looked specifically for mutations in the KRAS gene, whose expression signals proteins that spur cell growth and replicatioIn an additional group of endometriosis samples biopsied from 15 women at the University of British Columbia, the scientists looked specifically for mutations in the KRAS gene, whose expression signals proteins that spur cell growth and replicatioin the KRAS gene, whose expression signals proteins that spur cell growth and replication.

When injected into mice engineered with a tau mutation that makes the protein clump abnormally in brain cells, triggering memory and motor problems, the antibodies reduced the clumping and improved the animals» behavior.

Now, new research suggests changes at the epigenetic level — specifically alterations in proteins that affect gene expression, rather than genetic mutations — could be driving childhood ependymomas.

This happens because of a mutation in the FXN gene, which results in reduced expression of frataxin protein.

The identified mutation in the CNGB1 gene prevents the generation of normal protein in the dog's eyes.

For example, RNA - binding proteins are overexpressed in many human cancers, and mutations in some of these proteins have been linked to neurological and neurodegenerative disorders such as amyotrophic lateral sclerosis.

In living people, a rare mutation that causes members of a family to produce half the usual amount of FOXP2 protein also triggers severe speech defects, notes Simon Fisher, director of the Max Planck Institute for Psycholinguistics in Nijmegen, the Netherlands, who discovered the genIn living people, a rare mutation that causes members of a family to produce half the usual amount of FOXP2 protein also triggers severe speech defects, notes Simon Fisher, director of the Max Planck Institute for Psycholinguistics in Nijmegen, the Netherlands, who discovered the genin Nijmegen, the Netherlands, who discovered the gene.

Fanconi anemia (FA) is a genomic instability syndrome caused by mutations inside a cluster of proteins normally responsible for DNA repair in cells.

P53 mutations tend to be clustered in the core of the protein, where it binds to DNA, and they have similar effects on its shape.

It was previously shown by others that a rare disease called generalized pustular psoriasis (in which the skin erupts into pustules) was caused by a genetic mutation that resulted in unrestrained activity of a protein normally produced in our skin, called IL - 36.