These alterations in non-coding DNA sequence can affect
normal gene function, in addition to how much, when and where in the organism a melanocyte cell decides a gene product should be produced.
«Once we identify that disruption, we can begin exploring ways to restore
normal gene function during early heart formation — and reduce the number of babies born with debilitating, and sometimes fatal, congenital heart defects.»
Targeted gene therapies, however, had to wait for (1) the identification of the genes to target, (2) the cloning and / or sequencing of the relevant genes and in some cases, the specific disease - causing variant, (3) a full understanding of
the normal gene function and regulation, and (4) the development of efficient ways to deliver genes to the relevant tissues at therapeutic levels.
Not exact matches
Carlo Croce, a cancer researcher at Ohio State University in Columbus, and his colleagues created a diagram of interacting miRNAs for
normal body cells by connecting them according to which
genes they target and the
function of those
genes, in a way similar to analyses of human social networks.
Studies have shown that more than 50 % of all human cancers carry defects in the p53
gene, and almost all other cancers with a
normal p53
function carry other defects which indirectly impair the cancer - fighting
function of p53.
We all have ras
genes, which make proteins that are vital to
normal cellular
function.
genes, the team has shown that B. theta helps guide the
normal development and
functioning of the intestines — including the growth of blood vessels, the proper turnover of epithelial cells, and the marshaling of components of the immune system needed to keep less well behaved bacteria at bay.
This question has been challenging to address experimentally because attempts to restore
function to lost or mutated
genes in cancer cells often trigger excess
gene activity, causing other problems in
normal cells.
Monsanto's newest drought - tolerant product, Drought Guard, relies on a
gene that creates a chaperone protein to coat a plant's RNA during stressful conditions and maintain the plant's
normal cell
functions, while Syngenta's hybrid contains novel drought - tolerant
gene combinations.
However, cancer cells may instead be coaxed to turn back into
normal tissue simply by reactivating a single
gene, according to a study that found that restoring
normal levels of a human colorectal cancer
gene in mice stopped tumor growth and re-established
normal intestinal
function within only 4 days.
Cartilage formation (chondrogenesis) requires the
normal function of Sox9, a protein that regulates the expression of chondrogenesis - related
genes.
These
genes are believed to be essential for the
normal function of nerve cells, and previous studies have linked these mutations to problems with synaptic
function — how neurons communicate with each other.
The best example of this occurs in what's called
gene imprinting, where for example, females have two X chromosomes and one of those two X chromosomes must be inactivated in a cell in order for the cell's
normal function.
To understand how DIXDC1 mutations put
normal brain
function at risk, Cheyette's team turned to mutant mice that lacked a
functioning copy of the
gene.
The specific mutations that the researchers observed are «dominant negative» mutations, meaning, when present on even one copy of P53, they are able to compromise the
function of the
normal protein, whose components are made from both
gene copies.
Cereblon's
normal function is unknown, but mutations in the
gene encoding it are implicated in mild mental retardation.
The study supports the importance of the serotonin which is specified and maintained by a specific
gene, the Pet - 1
gene — for
normal functioning of the neurons, synapses and networks in the cortex, as well as proper development of brain circuitry.
The goal of the NIH program, as described on its website, is «to understand the principles behind the three - dimensional organization of the nucleus in space and time (the fourth dimension), the role nuclear organization plays in
gene expression and cellular
function, and how changes in the nuclear organization affect
normal development as well as various diseases.»
The alteration is predicted to result in the production of a shortened ETV6 protein that can not fulfill its
normal function of binding to DNA and regulating the expression of other
genes.
Several years later, Turek's team noticed that mice that lacked a
functioning Clock
gene were heavier than
normal mice.
If a mutated
gene causes damage to or spurs the disappearance of a necessary protein, for example,
gene therapy may be able to introduce a
normal copy of the
gene to restore the
function of that protein.
12 guide RNAs developed to find mutation «hotspots» along the dystrophin
gene helped rescue cardiac
function to near -
normal levels in human heart muscle tissue.
«We hope that in the future, by fully understanding how this
gene affects signaling in the brain, we may be able to identify drugs to restore the
normal signaling balance in neurons and improve cognitive and social
function in patients,» says lead author Dr. M. Chiara Manzini.
In April 2000, pediatric immunologist Alain Fischer at Necker Hospital in Paris announced that he and his team had successfully installed a
gene that restores
normal immune
function in three baby boys with a rare genetic illness.
Knowing the origin of each cell and which
genes control their
normal function are the foundations for scientists to decipher the disease process and eventually to find out how to guide the cells to self - repair or even to build up a brand new organ using amended cells from the patients.»
Kicking the habit lets most
genes return to
normal function over time, but some are damaged forever.
A-T is caused by lost
function in a
gene, ATM, which normally repairs damaged DNA in the cells and preserves
normal function.
Many of the insertion sites were located within
genes that play key roles in
normal brain
function.
In the new study, the researchers said the converted motor neurons compared favorably to
normal mouse motor neurons, in terms of the
genes that are turned on and off and how they
function.
An improved understanding of the biological background of musical aptitude can contribute new insights into, for instance,
genes that affect
normal brain
functions, the interactions between
genes and the environment and the significance of music as a form of therapy.
This shuttling mechanism is crucial to maintain
normal function of our
genes and prevent disease.
When the «healthy» HD
gene functions as it should, one of its many jobs is in the development of
normal embryos.
However, this cellular intervention alters the
normal expression of hypophosphorylated retinoblastoma (RB) protein needed for the expression of
genes involved in cell
functions [3] and, therefore, results in an abnormal cell.
«The challenge is to pick these individual
gene variations and to really drill down and try and understand their
function both in the
normal operation of the immune system and in the disease state.»
p53 is therefore well - studied as an oncogene, or a
gene that when not
functioning normally can contribute to a
normal cell becoming cancerous.
The cystic fibrosis fix was elegantly simple: Deliver
normal genes into the lung, and they would
function in place of the faulty ones.
The next step based on these novel head and neck cancer discoveries, the scientists agree, is to tease out how the
genes function in
normal cells, whether they form the lining of the larynx, pharynx, or another anatomical site affected by head and neck cancer.
BDNF, a target
gene of CREB, is reduced with age and in the AD brain [112] and is required for
normal cognitive
function [113].
We study learning and memory at the genetic level to understand the structure, regulation, evolution and biological
function of
genes that are required for
normal learning and memory.
We use various approaches including genetics, genomics and cell biology to study
gene functions in
normal development and disease such as cancer.
The researchers not only had to figure out how SLC16A11 performed in
normal circumstances, but also then determine how mutations in the
gene disrupted that
function.
This is where at the microscopic level the
genes should
function normal but something in the...
CRISPR has allowed scientists to tag and light up endogenous
genes of interest to better understand
normal protein
function.
PABPN1â $ ™ s
normal function appears to be making sure messenger RNAs from a variety of
genes have a protective â $ œpoly Aâ $ tail that allows them to leave the nucleus.
It is dedicated to the development of KO / KI mice and their extensive and standardised analysis to understand the
function of
genes involved in immune response in
normal and infectious conditions.
Cancer Center invesigators find that abnormal methylation disables tumor suppressor
genes, leading to the loss of
normal cell
function.
Her current research is focused on discovering how
normal and disease melanocyte cell states establish distinct regulatory DNA landscapes, and also determining how the combination of both genetic variation within these regulatory regions and environmental cell signals alter
gene expression and
normal cell
function.
Several
gene rearrangements have been engineered and their protein products have been expressed in both
normal cells and cancer cells to understand the effects of each rearrangement on cell
function and targeted drug effectiveness.
Every
normal tissue or organ comprises multiple resident cell types that are heterogeneous with respect to their morphologies,
functions, and
gene and protein expression patterns.
We use the zebrafish model to identify
genes and mechanisms that regulate
normal heart development,
function and regeneration, and that can contribute to cardiac diseases in humans.