Not exact matches
This team also discovered 3,200
genes that had fewer loss - of -
function or missense mutations than would be expected suggesting that these are likely disease - causing variants that are rare or absent
in the population because of their detrimental effect on
human health.
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.
Astoundingly, Venter says that his team could not identify the
function of 149 of the
genes in syn3.0's genome, many of which are found
in other life forms, including
humans.
In humans, stuttering has long been linked to a mutation in the «housekeeping» gene Gnptab, which maintains basic levels of cellular functio
In humans, stuttering has long been linked to a mutation
in the «housekeeping» gene Gnptab, which maintains basic levels of cellular functio
in the «housekeeping»
gene Gnptab, which maintains basic levels of cellular
function.
Since the publication of the
human genome sequence
in 2001, scientists have found that the so - called junk DNA that lies between
genes actually carries out many important
functions.
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.
In the case of CHD2, scientists collaborating with the EuroEPINOMICS RES consortium used antisense technology to rapidly generate zebrafish larvae with a partial loss of function of this gene, and were then able to detect epileptic seizures in these animals using electrographic analysis (this method is very similar to electroencephalography, or EEG, which is used to analyze seizures in humans
In the case of CHD2, scientists collaborating with the EuroEPINOMICS RES consortium used antisense technology to rapidly generate zebrafish larvae with a partial loss of
function of this
gene, and were then able to detect epileptic seizures
in these animals using electrographic analysis (this method is very similar to electroencephalography, or EEG, which is used to analyze seizures in humans
in these animals using electrographic analysis (this method is very similar to electroencephalography, or EEG, which is used to analyze seizures
in humans
in humans).
In a report that appears in PLOS BIOLOGY, Dr. Hugo Bellen and his colleagues at Baylor College of Medicine and the Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital and BCM, and Dr. Chao Tong, at the Life Sciences Institute and Innovation Center for Cell Biology, Zhejiang University in Hangzhou, China, find that mutations of human homologs (genes that carry out similar functions) of cacophony and its partner straightjacket (Cacna1a and Cacna2d2 respectively) cause defects in autophagy in neuron
In a report that appears
in PLOS BIOLOGY, Dr. Hugo Bellen and his colleagues at Baylor College of Medicine and the Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital and BCM, and Dr. Chao Tong, at the Life Sciences Institute and Innovation Center for Cell Biology, Zhejiang University in Hangzhou, China, find that mutations of human homologs (genes that carry out similar functions) of cacophony and its partner straightjacket (Cacna1a and Cacna2d2 respectively) cause defects in autophagy in neuron
in PLOS BIOLOGY, Dr. Hugo Bellen and his colleagues at Baylor College of Medicine and the Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital and BCM, and Dr. Chao Tong, at the Life Sciences Institute and Innovation Center for Cell Biology, Zhejiang University
in Hangzhou, China, find that mutations of human homologs (genes that carry out similar functions) of cacophony and its partner straightjacket (Cacna1a and Cacna2d2 respectively) cause defects in autophagy in neuron
in Hangzhou, China, find that mutations of
human homologs (
genes that carry out similar
functions) of cacophony and its partner straightjacket (Cacna1a and Cacna2d2 respectively) cause defects
in autophagy in neuron
in autophagy
in neuron
in neurons.
The three Ras
genes found
in humans — H - Ras, K - Ras and N - Ras — were among the first to be linked to cancer development, and a new study led by VCU Massey Cancer Center researcher Paul Dent, Ph.D., has shown the recently approved breast cancer drug neratinib can block the
function of Ras as well as several other oncogenes through an unexpected process.
To try to determine how those changes influenced the
gene's
function, that group put the
human version of the
gene in mice.
«Gaining a better understanding of the
functions genes perform
in cells, whether plant or animal, is going to help us understand how to diagnose and treat diseases
in humans,» says Richard K. Wilson of Washington University.
«C. elegans is a powerful tool for biological research because it shares many of the same anatomic and cell
functions as
humans, and their short lifespan (average 17 days) enables us to study
genes and measure cell traits
in just two to three weeks.»
The light - activated genetic switch could be used to turn
genes on and off
in gene therapies; to turn off
gene expression
in future cancer therapies; and to help track and understand
gene function in specific locations
in the
human body.
Because these
genes have the same
function in zebrafish,
humans, and other tetrapods, it should help researchers further understand how our ancestors left the water and evolved limbs from fins.
The roadmap outlines future research directions toward the goal of enhancing
human radioresistance, including upregulation of endogenous repair and radioprotective mechanisms, possible leeways into
gene therapy
in order to enhance radioresistance via the translation of exogenous and engineered DNA repair and radioprotective mechanisms, the substitution of organic molecules with fortified isoforms, the coordination of regenerative and ablative technologies, and methods of slowing metabolic activity while preserving cognitive
function.
This
in turn should help geneticists work out the
functions of
human genes, many of which are likely to have sequences similar to those found
in the nematode.
Before this study, scientists debated how these immune
genes can evolve rapidly (which is necessary to keep up with the fast - evolving parasites), whilst also showing little or no evolutionary change
in their
function over millions of years, as observed between
humans and chimpanzees.
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.
In its complaint, the ACLU states, «An «isolated and purified» human gene performs the exact same function as a nonisolated and purified human gene in a person's body.&raqu
In its complaint, the ACLU states, «An «isolated and purified»
human gene performs the exact same
function as a nonisolated and purified
human gene in a person's body.&raqu
in a person's body.»
In this case, as in a recent case of gene borrowing between weeds (ScienceNOW, 13 November 2008), «humans were indirect agents in promoting these events,» says Enrico Coen, a geneticist at the John Innes Centre in Norwich, U.K. Geneticist Sheila Schmutz of the University of Saskatchewan in Canada wonders what else the dogs might have contributed to wolves, say, to metabolism or immune system functio
In this case, as
in a recent case of gene borrowing between weeds (ScienceNOW, 13 November 2008), «humans were indirect agents in promoting these events,» says Enrico Coen, a geneticist at the John Innes Centre in Norwich, U.K. Geneticist Sheila Schmutz of the University of Saskatchewan in Canada wonders what else the dogs might have contributed to wolves, say, to metabolism or immune system functio
in a recent case of
gene borrowing between weeds (ScienceNOW, 13 November 2008), «
humans were indirect agents
in promoting these events,» says Enrico Coen, a geneticist at the John Innes Centre in Norwich, U.K. Geneticist Sheila Schmutz of the University of Saskatchewan in Canada wonders what else the dogs might have contributed to wolves, say, to metabolism or immune system functio
in promoting these events,» says Enrico Coen, a geneticist at the John Innes Centre
in Norwich, U.K. Geneticist Sheila Schmutz of the University of Saskatchewan in Canada wonders what else the dogs might have contributed to wolves, say, to metabolism or immune system functio
in Norwich, U.K. Geneticist Sheila Schmutz of the University of Saskatchewan
in Canada wonders what else the dogs might have contributed to wolves, say, to metabolism or immune system functio
in Canada wonders what else the dogs might have contributed to wolves, say, to metabolism or immune system
function.
Cebrià highlights that «as there are
genes which are similar to egr - 4
in other lineages — for instance the
human species — , this
function may be particularly interesting to understand the process of regeneration
in metazoans.»
Such dramatic effects on brain size and
function are unlikely
in human carriers of BRCA1 mutations, the authors of the study note, but they propose the findings could shed light on the
gene's role
in brain evolution.
To find out whether Rh proteins perform a similar
function, the team knocked out ammonium transporter
genes in yeast and replaced them with
human Rh protein
genes.
So far, scientists have found that different populations of living
humans have inherited the Neandertal version of
genes that cause diabetes, lupus, and Crohn's disease; alter immune
function; and affect the
function of the protein keratin
in skin, nails, and hair.
With molecular biologist Gregory Hannon of Cold Spring Harbor Laboratory
in New York state, Elledge developed genetic tools that examine how
genes function in human cancer cells.
They also found that these culprit
genes are involved
in various key
human neurological
functions within the prefrontal cortex, including the transmission of the neurotransmitter GABA across a synapse from one neuron to another.
Both of these compounds, which are called stilbenoids, worked
in synergy with vitamin D and had a significant impact
in raising the expression of the
human cathelicidin antimicrobial peptide, or CAMP
gene, that is involved
in immune
function.
The
function of myostatin appears to have been conserved across species, as inactivating mutations
in the myostatin
gene have been demonstrated to cause increased muscling
in cattle [8]--[11], sheep [12], dogs [13] and
humans [14].
What is exciting about these findings is that «now we have a handle on the
genes that comprise a universal toolkit for building stomata,» Bergmann explained, «plants apparently use the same common parts, but the ways these parts
function and interact with each other are different, which is both interesting from a discovery science perspective and could be harnessed to improve growth performance
in grasses that
humans use for food or fuel.»
There are crucial differences
in genes underlying brain development and
function, but also an adaptation of the digestive system to more resemble that of
humans.
While the scrawny
gene has so far only been identified
in fruit flies, very similar
genes that may carry out the same
function are known to be present
in all multicellular organisms, including
humans.
«This data allows classification of all
human protein - coding
genes into those coding for house - hold
functions (present
in all cells) and those that are tissue - specific
genes with highly specialized expression
in particular organs and tissues, such as kidney, liver, brain, heart, pancreas.
The
function of the majority of
genes in the mouse and
human genomes remains unknown.
Our technological expertise ranges from the most fundamental approaches to study membrane transport
in lymphocytes and dendritic cells (subcellular compartmentalization, intravital microscopy, phagosomal
functions), the systematic analysis of
gene expression and it regulation (RNAseq, Chip Seq, proteomics) and physiological and pathological immune responses (mouse models for cancer immunity, immunomodulation / vaccination,
human clinical studies
in cancer).
The findings by Dr. Pang and his colleagues indicated that
gene therapy might be able to stop cone degeneration during early Leber congenital amaurosis and restore the
function and morphology of the cones still surviving
in later stages of
human LCA.
Scientists believe that «conserved»
genes — those found
in life forms that range from bacteria to plants, insects and
humans — perform vital biological
functions across species.
INFRAFRONTIER - I3 General Meeting will be hold
in Marseille, on December 9th - 10th INFRAFRONTIER aims to build a world - class research infrastructure that provides the biomedical research community with the tools needed to unravel the role of
gene function in human disease.
We now understand the chain of action: how our
genes shape this
function in our brains and how that,
in turn, leads to
human behaviour.
«It really highlights that just a small difference
in the regulatory regions of
human DNA — even ones that don't really make a
gene, per se, but help to control
genes — can have a big impact on how the brain is built, and ultimately how it
functions,» she said.
The study, published
in Human Molecular Genetics, has shown that the majority of
genes associated with Nephrotic Syndrome (NS)
in humans are also pivotal
in Drosophila renal
function, validating transgenic flies as accurate pre-clinical models.
Previous reports have argued that the
genes that regulate brain development and
function evolved much more rapidly
in humans than
in nonhuman primates and other mammals because of natural selection processes unique to the
human lineage.
Here we aimed to create a catalog of autosomal
genes that are completely knocked out
in humans by rare loss - of -
function mutations.
«85 % of these
genes are required for nephrocyte
function, suggesting that a majority of
human genes known to be associated with NS play conserved roles
in renal
function from flies to
humans,» said Zhe Han, Ph.D., senior author of the paper and Associate Professor at the Centre for Cancer and Immunology Research at Children's National.
Homeostatic control of synaptic
function has been demonstrated
in diverse organisms, including flies, rodents, and
humans, yet the
genes and molecular mechanisms governing these processes remain unclear.
This is the first time that genome editing has been used to study
gene function in human embryos, which could help scientists to better understand the biology of our early development.
With the reference cell census data
in hand, the research team is excited to conduct additional studies, including ones involving models or
human patients with gastrointestinal conditions — Crohn's disease, ulcerative colitis, gastrointestinal cancers, forms of food allergy, etc. — aimed at identifying changes
in gene expression and epithelial structure and
function that could reveal new insights and opportunities for therapeutic development.
«These
genes may
function in a different way between
human and mouse.»
NGF is
in fact viewed as a viable target for AD clinical trials with one group investigating NGF ex vivo
gene delivery
in a Phase 1 trial with
human patients aimed at stimulating cholinergic
function and improving memory [123].
«The
human genome sequence provided a blueprint of all the protein - coding
genes in the
human genome for the first time,» reveals Jan Ellenberg, Head of the Cell Biology and Biophysics Unit at EMBL Heidelberg, «this changed how we go about studying protein
function.»