Sentences with phrase «by the mutation responsible»

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.

Not exact matches

And when compared to the genetic contributions of the mother, older fathers are responsible for nearly all of a child's random genetic mutations: a father's age at conception may account for 97 % of the new, or de novo, mutations found in his offspring, according to the new study led by Augustine Kong at deCODE Genetics in Iceland.

Almost immediately such familial genome sequencing proved its value, uncovering mutations responsible for diseases caused by defects in a single gene.

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

A new report by researchers in the Perelman School of Medicine at the University of Pennsylvania found that loss - of - function mutations to Filaggrin - 2 (FLG2), a gene that creates a protein responsible for retaining moisture and protecting the skin from environmental irritants, were associated with atopic dermatitis in African American children.

By studying individuals with syndromic CLP from Amish and Northern Saudi Arabian families, the researchers identified the responsible mutations.

Liu's experiments began by breeding finches with a singular genetic mutation — the introduction of mHTT, the mutant human gene responsible for Huntington's disease.

Scientists at the National Institutes of Health (NIH) have identified a genetic mutation responsible for a rare form of inherited hives induced by vibration, also known as vibratory urticaria.

Now a new study led by scientists at The Scripps Research Institute (TSRI) and the Scripps Translational Science Institute (STSI) suggests that «molecular autopsies» may be valuable in detecting gene mutations responsible for a sudden death.

Defective genes can be caused by mutations in either the maternally - inherited mitochondrial genome (mtDNA) or more frequently, the genes located on the autosomes, the 23 pairs of chromosomes which are responsible for all traits and all other genetic diseases.

Responsible for this ability is a mutation in the DMRT3 gene, which was recently shown by a study with over 4,000 horses from different breeds.

The team identified the gene affected by the mutation code for asparagine synthetase, the enzyme responsible for synthesizing the amino acid asparagine.

The men most likely to benefit could be identified by genetic testing to look for mutations in genes responsible for DNA repair — including the BRCA genes and the gene ATM.

With the complete sequence of the maize genome now available, positional cloning can be used to identify genes responsible for traits caused by mutations as well as by natural genetic variation.

Progressive kidney diseases, whether caused by obesity, hypertension, diabetes, or rare genetic mutations, often have the same outcome: The cells responsible for filtering the blood are destroyed.

The condition is caused by mutations in the genes responsible for muscle structure and functions.

But new research led by University of Pennsylvania scientists suggests that mutations in an X chromosome gene called TEX11 are responsible for a significant number of cases of infertility — an estimated 1 percent of cases of non-obstructive azoospermia.

CRI presents the Coley Award to Thierry Boon, for the isolation of genes responsible for mutation - induced production of cancer antigens by T cells, and to Rolf M. Zinkernagel, for landmark discoveries about MHC restriction of T cell recognition.

By using model comparisons in an approximate Bayesian framework, we have shown that the speciation event and the major mutation responsible of for heavy metal accumulation both occurred in a very narrow time - scale [1].

The treatment, which has now received regulatory approval and which is being offered by the biotech company CRISPR Therapeutics, is aimed at curing a blood disorder known as β - Thalassaemia by correcting the genetic mutation responsible for the condition.

For instance, imagine if the genetic variants mentioned earlier, responsible for encouraging the development of larger brains, were identified by geneticists as potentially harmful mutations and promptly eliminated from the gene pool.

Any suggestion from the last film that we're at least responsible for our enemy's mutation is jettisoned along with anything like the cinematic sheen professional misanthrope Alexandre Aja brought to that project, replaced here by childish line - drawing and comparatively juvenile notions of what's gross and what's scary.

This mutation also affects enzymes responsible for the pigment production in the fur but their amount is directly affected by the temperature.

Drugs that may be pumped out by the protein that the MDR1 is responsible for producing, but appear to be safely tolerated by dogs with the MDR1 mutation: <

A gene mutation responsible for a devastating heart disease in cats - also a leading cause of sudden death in young athletes - was identified by a research team that included veterinary heart specialists at the School of Veterinary Medicine; this was the first report of a spontaneous genetic mutation causing any type of heart disease in a cat or dog.

Thanks to years of dedicated work by researchers in the laboratories of Dr. Greg Acland and Dr. Gus Aguirre, and aided by early support from Morris Animal Foundation and the Collie Health Foundation, the mutation responsible for the collie PRA called rod cone dysplasia type 2 (rcd2) has been identified.

Dr. Johnson's proposal, entitled «Identification of Mutations Responsible for Progressive Retinal Atrophy in TTs by Whole Genome Sequencing» can be seen on the TTWHF website.

The mutations responsible for these alleles were identified and described primarily by Sophie Candille in the laboratory of Dr. Greg Barsh at Stanford University.

The mutation responsible for this disease in the Eurasier was recently identified by researchers at the University of Bern in Switzerland.

Investigators at the Broad Institute are attempting to identify the mutation (s) responsible for JRD in Golden Retrievers by comparing the genomes of affected dogs to the genomes of healthy dogs.

The talk by the US - based artist responsible for the Harun Farocki - inspired Workers Leaving the Googleplex (2009 - 2011) video essay, will follow current work around «organisms, mutation, and consciousness».