Sickle cell anemia is
caused by a genetic mutation that leads to «sickling» of the red blood cells.
«Too much of this building block due to SAMHD1 deficiency
caused by genetic mutations can lead to autoimmune diseases and help cancerous tumors grow.
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.
The disease is
caused by a genetic mutation that leads to abnormal clumps of protein in the brain, eventually resulting in the atrophy and death of nerve cells.
Their work, published online July 8 by the journal Science Translational Medicine, could pave the way for gene therapy in people with hearing loss
caused by genetic mutations.
Muscular dystrophy, a disease
caused by a genetic mutation on the X chromosome, primarily affects boys and comes in several varieties.
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.
«This study is exciting because it shows that changes within the body can affect the progression of a disorder
caused by a genetic mutation,» said Jim I. Koenig, Ph.D., program director at NINDS.
Diseases
caused by genetic mutations can be challenging to diagnose.
The disease is
caused by a genetic mutation that prevents a protein required to keep muscle cells intact from being produced.
«We know that the majority of cancers are
caused by genetic mutations.
Spinal muscular atrophy is
caused by a genetic mutation that triggers the loss of spinal cord motor neurons — neurons that help control the body's movements.
Transplanted hearts lasted in four groups of mice as follows: • 21 days: mice with hyperlipidemia
caused by a genetic mutation of apolipoprotein E (ApoE) placed on a high - fat diet • 51 days: healthy mice placed on a high - fat diet leading to hyperlipidemia • 61 days: mice with hyperlipidemia
caused by a genetic mutation of ApoE on a lower - fat diet • More than 100 days: healthy mice placed on a lower - fat diet
It is
caused by a genetic mutation, which Dr. Baraban's group was able to introduce into the zebrafish to cause epilepsy.
«These findings suggest that it may be possible to treat neurological disorders
caused by genetic mutations through an efficient and precision medicine - style approach.»
Tuberous sclerosis is
caused by a genetic mutation that either is inherited from a parent or acquired during development before a children is born.
Scientists, including speaker Petter Stromme of the University of Oslo, have found that the disorder is
caused by a genetic mutation in the SLC9A6 gene on the X chromosome.
By contrast, the congenital sideroblastic anemias (CSAs) are inherited diseases
caused by genetic mutations that are present at birth in all the cells.
CJD can be
caused by genetic mutations, by exposure to contaminated foods (as with so - called mad cow disease) or even, in rare cases, from accidental exposures during medical procedures, such as surgery or other invasive treatments.
Breast cancer is
caused by a genetic mutation in the DNA of breast cancer cells.
Only about 5 to 10 percent of all cancers are thought to be
caused by genetic mutations, according -LSB-...]
Only about 5 to 10 percent of all cancers are thought to be
caused by genetic mutations, according to the American Cancer Society.
And since cancer is
caused by genetic mutations, it's no surprise that green tea may have anti-cancer properties.
«It can be caused by structural defects in the brain and spinal cord that occur during fetal development», when the mesenchymal tissue is forming, «possibly
caused by genetic mutations or lack of proper vitamins or nutrients in the maternal diet.»
Von Willebrand disease is
caused by genetic mutations that impair the synthesis, release, function or stability of von Willebrand factor.
Von Willebrand Disease is
caused by genetic mutations that interfere with the production or function of the von Willebrand factor protein.
Not exact matches
Greaves» hypothesis, 7 the Infective Agent Theory, outlines a 2 - stage oncogenic process for childhood leukemia — an in - utero
genetic mutation causing a
genetic predisposition to cancer followed
by a delayed exposure (known also as the Hygiene Hypothesis) to an infective agent that brings into effect the
genetic tendency.7
Classic galactosemia is an autosomal recessive
genetic disorder
caused by mutations in the GALT gene.
These are subjected to so - called next generation sequencing, a technique that sifts the vast
genetic composite, ferreting out sequence variants (or alleles)
caused by mutations in genes.
Genetic mutations could occur at which could elevate their potential for
causing widespread harm, thus close observation
by contagious disease specialists is merited.
Some prion diseases are
caused by an inherited
genetic mutation, while others are
caused by exposure to infectious prions in food.
«Given this mechanism, ataluren offers the potential for a new therapeutic approach for multiple nonsense
mutation genetic disorders
by targeting the underlying
cause of the disease.»
Huntington's disease is an inherited
genetic disorder
caused by mutations in the gene that encodes huntingtin protein.
Ma said this type of
mutation appears to be unique to soybeans as semideterminancy in other plants such as tomatoes and chickpeas is
caused by a different
genetic mechanism.
Unlike many
genetic syndromes that are
caused by a
mutation in a gene, people with Prader Willi often have the right gene available — it's simply that it's been silenced.
We intend to follow up this work
by trying to get yet more detail on the prevalence of such
mutations as well as
by testing for these events in other tissues; most
genetic investigations are performed only in blood, so we may have missed some disease -
causing mutations by not testing elsewhere,» Dr Gilissen will conclude.
Concerns have been stirred
by reports of research in China to correct disease -
causing genetic mutations in non-viable embryos in 2015 and the granting,
by the Human Fertilisation and Embryology Authority (HFEA), of a licence to allow genome editing of embryos in the UK February 2016.
Sickle cell disease is a recessive
genetic disorder
caused by a single
mutation in both copies of a gene coding for beta - globin, a protein that forms part of the oxygen - carrying molecule hemoglobin.
The researchers studied a form of the condition called Charcot - Marie - Tooth disease type 2A, which is
caused by specific
genetic mutations.
FSHD is an unusual
genetic disorder because, unlike most
genetic diseases, it is not
caused by the loss of a functional gene, but rather
by the modification of an existing gene, through a
genetic mutation.
A team of scientists led
by Virginia Commonwealth University physicist Jason Reed, Ph.D., have developed new nanomapping technology that could transform the way disease -
causing genetic mutations are diagnosed and discovered.
While
genetic mutations cause some abnormalities in humans, many, including diprosopia, are
caused by obstacles faced during development.
The team first created embryos with
genetic mutations that
caused two different diseases: β - thalassemia and favism (an anemia
caused by eating fava beans).
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.
Rather than artificially triggering cancer
by engineering
genetic mutations, this model more closely mimics human liver cancer in that tumors develop as a natural consequence of non-alcoholic steatohepatitis (NASH), a chronic metabolic disorder that
causes liver damage, fibrosis and numerous cell
mutations.
Most cancers are
caused by the accumulation of somatic (versus inherited)
genetic mutations, or variants.
Over the next few years, similar maternal blood tests could detect hundreds of diseases
caused by chromosome abnormalities or
mutations, including cystic fibrosis, sickle cell anemia, Tay - Sachs disease, and
genetic deafness and blindness.
Field reports suggest that not all K13
mutations are capable of
causing resistance, and the
genetic system developed
by Dr. Fidock to study K13, based on DNA repair approaches that are being used in human gene therapy studies, will be critical in identifying real hot spots of resistance.
Thalassaemia is the world's most common
genetic disease and is
caused by mutations in one or both of the genes that code for haemoglobin.
Although the disease appears to be
caused by a
genetic defect, it doesn't run in families, suggesting that the
mutation occurs randomly in egg or sperm cells or at some point after fertilization.