Sentences with phrase «explained by a mutation»

A rare condition that causes a person be born without fingerprints can now be explained by a mutation in a single gene, a new analysis suggests

Of this number, 168 have been explained by mutations in 113 X-linked genes, which in many cases were characterized with the aid of the DNA sequence.

Not exact matches

It can not be decided by creatures mutually adapting to one another according to natural selection and mutation, for this assumes a basic physico - chemical order it does not explain.

You see, if evolution is true, science has an even bigger problem than Cain's wife to explain — namely, how could man ever evolve by mutations (mistakes) in the first place, since that process would have made everyone's children deformed?

SCIENCE explains that disease is caused by germs and gene mutations.

Researchers said clinical evidence shows that up to 35 % of children with food allergies have atopic dermatitis, much of which is explained by at least three different gene mutations that reduce the skin barrier.

The authors searched for genetic mutations that might explain the disproportionately high risk of SUDEP in people with poorly controlled focal epilepsy, which, by definition stems from a specific area of the brain.

«Taken together, our results suggest that SCN8A mutations in people with early - infantile epileptic encephalopathy may increase the risk of SUDEP by creating an environment in which the heart has a higher susceptibility to arrhythmias,» explains author Chad Frasier, Ph.D., a postdoctoral researcher at the University of Michigan.

As Saaïd Safieddine, CNRS Director of Research at the Institut Pasteur and co-senior author of the study with Prof. Christine Petit (head of the Genetics & physiology hearing unit at the Institut Pasteur), explains, «we have just shown that it is possible to partially correct a specific form of hereditary hearing loss accompanied by balance problems using local gene therapy performed after the embryogenesis of the ear, which is primarily affected by the mutation responsible for the disorder.

Years after her ordeal, which she survived, scientists led by Jean - Laurent Casanova discovered that it could be explained by a rare mutation she carries that prevented her from producing a protein, interferon, that helps fight off the virus.

New research by Rockefeller University scientists, published March 26 in Science, helps explain why: a rare genetic mutation.

The distinction between these two pathways may help to explain the difference between outcomes for younger and older patients — PA in younger patients is more likely to be caused by K: B fusion and 5 - year survival is generally high; PA in older patients is more likely to be caused by BRAF point mutations and 5 - year survival is generally lower.

Lencz explains: «TAGC advances the goal of bringing personal genomics to the clinic, as it tells the physician whether a mutation in a patient's genome is shared by healthy individuals, and can alleviate concerns that it is causing disease.

But about 2 years ago, a seasonal strain appeared whose fitness is not diminished by the mutation — perhaps because other mutations compensate for it ---- which explains why that strain has spread so fast, even in countries that use little oseltamivir.

«Cancers evade immunotherapy by «discarding the evidence» of tumor - specific mutations: Discovery could explain widespread acquired resistance among patients treated with immune checkpoint blockade drugs.»

Animal studies have also found that a stress to a parent, such as exposing a pregnant mouse to toxic chemicals or mildly shocking a mouse father to make it fear an odor, can result in effects such as infertility or changes in behavior that persist for two generations or more yet can't be explained by genetic mutations.

Although another recent study found that a single gene mutation heightened the risk of obesity by up to 67 percent, genetics can not explain the skyrocketing obesity trend.

«This study gives a glimpse into the mechanism by which different mutations within the same gene can cause distinct defects in the brain, and may help to explain how they may contribute to different disorders,» says Guoping Feng, the James W. and Patricia Poitras Professor of Neuroscience at MIT, a member of MIT's McGovern Institute for Brain Research, a member of the Stanley Center for Psychiatric Research at the Broad Institute, and the senior author of the study.

So the team tested 116 people with early - onset testicular cancer, breast cancers not explained by known mutations, or early - onset colorectal cancer.

In the Belgian population, 37 % of patients with ALS and 25 % of patients with FTD can be explained by the presence of this C9orf72 mutation.

Autism has a strong genetic basis, although the genetics of autism are complex and it is unclear whether ASD is explained more by rare mutations, or by rare combinations of common genetic variants.

In a new study published in PLOS Genetics, led by Leif Andersson, Uppsala University / SciLifeLab, Swedish and French researchers report that two independent mutations are required to explain the development of the sex - linked barring pattern in chicken.

«Historically, we have had trouble modeling human diseases caused by mutation of just one copy of a gene in mice, which impedes research on complex conditions and limits our discovery of therapeutics,» explained Srivastava, director of the Gladstone Institute of Cardiovascular Disease and senior author on the study.

It is well known that HDAC inhibitors are potent anticancer drugs in hematopoietic malignancies, including lymphoma.19 — 21 The aim of using HDAC inhibitors is to restore normal histone modification patterns through inhibition of various components of the epigenetic machinery.22, 23 In B - cell lymphoma, HDAC inhibitors can rescue deficits in histone acetylation induced by EP300 / CREBBP mutations, 24 rendering tumor cells more sensitive to suberoylanilide hydroxamic acid.25 This can explain why chidamide also has favorable efficacy on PTCL - NOS patients bearing EP300 / CREBBP mutations.

We have been searching for a mechanism that can explain the genetic cause of majority of BWS and that can provide better understanding of intragenic mutation of p57KIP2 and disruption of KvLQT1 gene by balanced germline chromosomal rearrangements.

This mutation can occur only by the opening of a new dimension», he explains of his portraiture.