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».