By searching
for gene deletion patterns in cancer through a concept the investigators call «synthetic essentiality,» the team identified a synthetic essential gene known as chromatin helicase DNA - binding factor (CHD1) as a therapeutic target for prostate and breast cancers lacking a tumor suppressor gene called phosphatase and tensin homolog (PTEN).
Not exact matches
These
deletions also may extend to neighboring
genes, an event known as «collateral lethality,» which may create new options
for development of therapies
for several cancers.
«We showed that the
deletion of the
gene responsible
for this pathway can restore the original therapeutic function of the cells,» said Prof. Leor.
The Salk researchers discovered that
deletion of the WRN
gene leads to heterochromatin disorganization, pointing to an important role
for the WRN protein in maintaining heterochromatin.
Those
deletions tended to involve
genes that affect cilia, cellular structures that are important
for signaling and patterning in embryonic development.
For the first time, Whitehead Institute scientists have documented a direct link between
deletions in two
genes — fam57ba and doc2a — in zebrafish and certain brain and body traits, such as seizures, hyperactivity, enlarged head size, and obesity.
Right now, there is no specific treatment
for cancers harboring LKB1 or DIXDC1 alterations, but those with a
deletion of either
gene would likely see results from cancer drugs that target the focal adhesions, says Shaw.
Researchers checked the genomes of 150 patients with schizophrenia and those of 268 healthy people, looking
for large duplications and
deletions of genetic material that disrupted the function of a
gene.
The second group, consisting of Y - chromosomal
gene families expressed specifically in testes, may account
for infertility among men with Y
deletions.
For example, the scientists identified a deletion in one gene called «stargazin» that is required for regulating the transmission of signals between neurons in the bra
For example, the scientists identified a
deletion in one
gene called «stargazin» that is required
for regulating the transmission of signals between neurons in the bra
for regulating the transmission of signals between neurons in the brain.
One they came upon was Ufd1 (
for ubiquitin fusion degradation), which was one of 25 or so
genes known to lie within the DiGeorge
deletion site.
They recapitulate natural selection and evolution: in complex
gene networks, mutations or
deletions of highly linked (hub)
genes lead to embryonic lethality, while mutations of weakly linked
genes account
for biological variability and natural selection (Oikonomou and Cluzel, 2006).
The majority of cases of Lynch syndrome are attributed to heterozygous germline mutations in the DNA mismatch repair
genes MLH1 and MSH2, and current methods
for DNA sequencing and
deletion analysis can successfully detect these mutations.
A new strategy
for functional signaling studies of B ‐ cell lines by the CRISPR / Cas9 mediated
deletion of BCR and B ‐ cell co ‐ receptor
genes.
Researchers typically use viruses
for two types of studies --(1) knock - in; introducing a protein - coding
gene into cells to study its function, or (2) knockout / knockdown; studying
gene function through
deletion (potentially using CRISPR lentivirus knockout libraries) or reduction of
gene expression, respectively.
It's possible that inherited regions of CNV with strong influence on
gene expression are targeted
for amplification /
deletion by cancer cells, which might obscure their effect in an otherwise normal cell.
Future posts will include non-homologous end joining, using CRISPR
for gene activation, creating
deletions using CRISPR - Cas tools, validation, and more.
Many individual ASD patients had
deletions or duplications of multiple
genes within this network, but
for those patients with just a single
gene from the network changed, that single
gene appeared to play an important role.
Using DECoN (which stands
for Detection of Exon Copy Number variants), the researchers took advantage of the high density of sequencing data available in new
gene panels to accurately detect
deletions or duplications of exons.
The MMRRC is your one stop resource
for unique and popular research related mouse models offering specific
gene deletions, insertions, modifications and repressions, and phenotypes.
Using this technology, we screened 31 patient samples across an array containing a total of 162 exons
for five disease
genes and detected copy - number changes, ranging from whole -
gene deletions and duplications to single - exon
deletions and duplications, in 100 % of the cases.
Here, we describe the loss of a
gene within the
deletion that is responsible
for the cardiomyophathy associated with monosomy 1p36, and confirm its role in non-syndromic left ventricular noncompaction cardiomyopathy (LVNC) and dilated cardiomyopathy (DCM).
Using our own data and publically available data from array comparative genomic hybridization (aCGH), we identified a minimal
deletion for the cardiomyopathy associated with del1p36 that included only the terminal 14 exons of the transcription factor PRDM16 (PR domain containing 16), a
gene that had previously been shown to direct brown fat determination and differentiation.
For each mouse line, Lexicon provided not only the mouse strain itself, but also detailed, objective data on the impact of the specific
gene deletion on the mouse's phenotype, which includes appearance, health, fitness, behavior, ability to reproduce, and radiological and microscopic data.
Deletion of the TAM from a naive strain of E. coli results in a drastic time delay in folding of UshC, which can be observed
for a protein from EPEC as well as
for two introduced proteins from related organisms, Yersinia and Enterobacter We suggest that this models why the TAM machinery is essential
for efficient folding of proteins acquired via lateral
gene transfer.
Results: We confirmed the Gallus Gallus v5 consensus except
for two insertions of 5 and 1 base pair within the chIFITM3 and B4GALNT4
genes, respectively, and a single base pair
deletion within the B4GALNT4
gene.
For each mouse line, Deltagen provided the mouse strain, but also detailed, objective data on the impact of the specific
gene deletion on the mouse's phenotype, which includes appearance, health, fitness, behavior, ability to reproduce, and radiological and microscopic data.
With our group, we address the question if
deletion of the mammalian Indy
gene (mIndy) also promotes longevity in mammals and we look
for molecular mechanisms explaining the effects of mIndy on metabolism, aging, and life span.
It has examined how new genetic findings (duplication and
deletion or changes in
genes) influence the response to various drugs and whether this information can be used to choose the right drug
for the right patient.
They also described the
gene's size and genetic
deletions associated with disease, including a very large
deletion of the
gene coding
for dystrophin found in a patient with mild disease.
CAHDetx evaluates the CYP21
gene, detecting mutations and
gene deletion / conversions that account
for approximately 90 % to 95 % of all CAH cases.
We have identified a genetic
deletion for a
gene that functions by holding cardiac cells together.
Researchers at the University of Pennsylvania have developed a test to detect the
deletion that occurs in the
gene that codes
for alpha - fucosidase.
Regardless of whether Mann deleted his own emails regarding AR4, Mann participated in the conspiracy to delete emails when he assured Jones that he would contact
Gene Wahl about Jones request
for deletion of emails regarding AR4.
Fowler et al. (2009) found that a variable number tandem repeat (VNTR) polymorphism in the
gene encoding monoamine oxidase A (responsible
for catabolism of serotonin and other catecholamine neurotransmitters), and an insertion /
deletion polymorphism in the SLC6A4 promoter (5 - HTTLPR) were associated with what the authors term the «emotional dysfunction» aspect of psychopathy (a construct that corresponds with CU traits) in a sample of adolescents with attention deficit hyperactivity disorder (ADHD)[18].