Recurrent genetic deletion linked to autism
... may underlie the development of autism."
results in the loss of about 25 known genes. ... found that two out of those 180 (1.1%) had a deletion
in region 16p11.2, on the short arm of chromosome ... They found two additional subjects with the same deletion
(0.4%), which was seen in none of the 465 ...
Microarray analysis improves prenatal diagnosis
... and automatically to identify copy number variation, which indicates the deletion
or addition of genetic material at a particular point on the genome.
... to cause the defects. In the third case, there was a relatively large deletion
in an area of chromosome 3, but it was also present in the mother, who had ...
Case Western Reserve University uncovers genetic basis for some birth defects
... cells had developmental defects resembling those of human patients with a deletion
that includes this gene. The patients have features that are similar to ... that we had in fact developed animal models that mimicked the human deletion
syndrome," said Landreth. "This work sheds light on how these ...
Work with power grids leads to cell biology discovery
... compromise gene activity. Their network-based method does this by targeted deletion
of genes, forcing the cell to either bypass the functions affected by the ... (via computer simulation) with E. coli, the researchers found that the deletion
of one gene is lethal to the cell but when that same gene is removed along ...
Overeating and obesity triggered by lack of BDNF
... mice when food access was limited to that of normal mice, indicating that deletion
of the Bdnf gene in the VMH and DMH does not affect the expenditure side ... exhibit behavioral abnormalities typically observed in mice with global deletion
of the Bdnf gene throughout the brain, such as hyperaggression, ...
Ultraconserved elements in the genome: Are they indispensable?
... Lab senior scientist who is one of the primary authors of the study. "The deletion
of these elements likely has relatively mild effects on fitness that are ... not explain why they are so ultimately conserved."
The discovery that deletion
of ultraconserved elements does not render mice unviable or infertile is a ...
ISU researchers find possible treatment for spinal muscular atrophy
... two years.
Using this junk sequence in SMN2 to restore the high levels of functional SMN protein could eliminate Spinal Muscular Atrophy caused by deletion
or mutation in SMN1.
Singh believes this technology could also work treating other diseases.
"We know that Parkinson's disease, Alzheimer's ...
Children's Hospital of Pittsburgh of UPMC scientists identify enzyme important in aging
... in adults. By deleting PAPPA, the researchers were able to control the availability of IGF in tissues and dampen its many ill effects. In the thymus, deletion
of PAPPA maintained just enough IGF to sustain production of T cells without consuming precursor cells, thereby preventing the degeneration of the ...
Dogs, humans, put heads together to find cure for brain cancer
... pinpointed a particular tumor-suppressing gene on human chromosome 22, known as NF2, as a possible contributor to meningioma. They believed that the deletion
of NF2, with its tumor suppressing abilities, could trigger tumor growth.
In looking at genetic changes across the whole genome, Breen's team ...
DNA template could explain evolutionary shifts
... is dividing and becoming two a process known as mitosis.
Copy number variation involves structural changes in the human genome that result in the deletion
of genes or parts of them or extra copies of genes. Often, this process is associated with disease or with evolution of the genome itself.
Protein linked to change in tissue that surround and support breast tumors
... are being increasingly recognized as an important component of breast cancer risk."
A splice variant occurs as the gene is expressed, resulting in deletion
of extra amino acids when the protein is formed, changing its shape and possibly its function. Many genes produce these kinds of variants, and the ...
UNC study identifies genetic cause of most common form of breast cancer
... his colleagues specifically targeted the role that p18 plays in the development of luminal breast cancers. Using genetically-engineered mice with deletion
of p18 genes, they created a highly reliable model of human breast cancers. The researchers tested their model by analyzing the gene in samples from ...
Cystic fibrosis testing -- next steps
... genetic testing. The reports by Schwartz et al and Hantash et al identify mutations that may lead to false screening results, either due to a large deletion
in CFTR or because of mutations that interfere with laboratory screening methods.
Wayne Grody, of the UCLA School of Medicine, Los Angeles, ...
Mouse model provides a new tool for investigators of human developmental disorder
... abnormalities, and the severity of these symptoms varies between individual WHS patients.
While it was known that WHS is related to a genetic deletion
in chromosome 4, the specific gene or genes affected were unknown. Now, a study by scientists at the European Molecular Biology Laboratory ...
Burnham researchers present at 100th AACR Meeting
... Protein Mediates the Chemopreventative Effect of Ursodeoxycholic Acid by Activating Nuclear Receptor FXRα in Colorectal Cancer and Genetic deletion
of FXRα Promotes Colon Tumorigenesis in ApcMin/+ Mice
Adam Richardson, Ph.D., will present The Role of Pentose Phosphate Pathway in the Warburg ...
'Experiment of nature' examines how mother's diet may impact on child's health
... that determines our make-up from our parents: 50% of our DNA from our mothers and 50% from our fathers. Apart from the occasional mutation, deletion
or duplication of information, this DNA remains unchanged between generations.
The environment, for example our diet, whether we smoke, and the ...
McMaster researchers discover new mode of how diseases evolve
... the genetic material that controls disease-causing genes in a body. Previously, disease evolution was thought to occur mainly through the addition or deletion
Brian Coombes, an assistant professor in the Department of Biochemistry and Biomedical Sciences, was the lead investigator of the study ...
Decreasing insulin resistance prevents obesity-related cardiovascular damage
... that tells you it has been high, that it's swinging," he says. The sugar-coated hemoglobin also can start sticking to blood vessel walls, a problem deletion
of PTP1B also seems to fix. Hemoglobin is a protein and a binding receptor for sugar-modified proteins receptor for advanced glycation end products, ...
The heart disease mutation carried by 60 million
... understood. So the new study published in Nature Genetics is striking for the size and simplicity of the effect it reports.
The mutation, a deletion
of 25 letters of genetic code from the heart protein gene MYBPC3, is virtually restricted to people from the Indian subcontinent. But there, Caste ...
Reprogrammable cell type depends on a single gene to keep its identity
... strain in which the Prox1 genes could be deleted from LECs at different times during development or after birth.
The St. Jude team found that deletion
of Prox1 in LECs promoted their reprogramming into BECs as indicated by the expression of specific LEC and BEC proteins. In addition, the newly ...
Clue to genetic cause of fatal birth defect
... blood-brain barrier develops.
Gibori says the gene that is missing or defective in human anencephaly is not yet known, but the discovery that the deletion
of HSD17b7 in the mouse causes anencephaly suggests this gene may be awry in the human disease.
"This opens up very exciting possibilities for ...
Aberrations in region of chromosome 1q21.1 associated with broad range of disorders in children
... genes that contribute to the differences in the types of developmental abnormalities that occur in children with the deletion. Supposedly unaffected deletion
carriers might in fact have more subtle disorders that could be found during further clinical evaluations. For example, an examination of one ...
New evidence on the robustness of metabolic networks
... products and energy. Because the network is highly interconnected, it is possible for a single reaction failure (which may be precipitated by a gene deletion
or mutation) to initiate a cascade that affects several other reactions in the system. This event could be likened to disturbing a small area of snow ...
Identification of protein able to stimulate production of T-cells
... a marked increase in the number of white blood cell progenitors, and of immature T cells in the thymus in particular.
Conversely, they found that deletion
of the Wnt4 gene and lack of the corresponding protein was associated with a decrease in the number of T cell progenitors in the thymus.
Researchers discover a gene that regulates and blocks ovulation
... the research team developed a new type of genetically modified mouse whose Lrh1 gene was selectively blocked in the ovary. They found that deletion
of the Lrh1 gene effectively stopped ovulation. "This discovery means we can envision new contraceptives that selectively stop ovulation," said Dr. ...
Mouse can do without man's most treasured genes
... studying human disease, appear in the current issue of the journal Proceedings of the National Academy of Sciences (PNAS).
"Everyone assumes that deletion
of the same gene in the mouse and in humans produces the same phenotype (an observable trait such as presence or absence of a particular disease). ...
Scientists dig deeper into the genetics of schizophrenia by evaluating microRNAs
... can be linked to the behavioral and cognitive deficits associated with the disease.
The investigators modeled mice to have the same genetic deletion
as the one observed in some individuals with schizophrenia and examined what happens in the expression of over 30,000 genes in specific areas of the ...
Researchers discover gene for branchio-oculo-facial syndrome
... the latest in molecular microarray technologies, the researchers examined one affected mother and son and two sporadic BOFS cases and found a small deletion
on chromosome 6 in the mother and son. Sequencing of genes in this candidate region revealed missense mutations clustered in the basic region of the ...
Computer simulations point to key molecular basis of cystic fibrosis
... People with cystic fibrosis do not have enough CFTR for their cells to work normally because their bodies quickly destroy the mutant protein. The deletion
of this protein specifically occurs in a major domain of CFTR called NBD1. Earlier experimental studies have shown that the mutant NBD1 has an ...
Gene dose affects tumor growth
... genetic crosses. Mice with three copies of the 33 genes developed half the number of tumors as mice with the standard two copies. Mice carrying a deletion
that left them with only one copy of these 33 genes developed twice the number of tumors as usual.
Not only does having an extra copy of one or ...
Copy number variation may stem from replication misstep
... takes place as the cell is dividing and becoming two.
Copy number variation involves structural changes in the human genome that result in the deletion
or extra copies of genes (or parts of them). Often, this process is associated with disease, and also with evolution of the genome itself.
Mutant sperm guide clinicians to new diseases
... at regions known to be affected by rearrangement in Williams-Beuren Syndrome, Charcot-Marie-Tooth disease Type 1A, Smith-Magenis Syndrome, and a deletion
(AZFa) that causes male infertility. Their study showed that duplications are about half as frequent as deletions. By contrast, the two types of CNV ...
Lecture to honor victim of Sept. 11 tragedy
... of pathology and laboratory medicine at BUSM.
Her thesis project was an investigation of the role of interleukin-16 in immunity and targeted deletion
of the interleukin-16 gene in mice. Her degree was awarded posthumously by unanimous vote by the thesis committee.
Sue was on her way to a ...
Dominant cholesterol-metabolism ideas challenged by new research
... Did ABCA1
cause or activate phospholipid transport across the cell membrane
only during apoptosis? "We could not demonstrate that the addition
of ABCA1 had any effect on the movement of PS to the cell
surface in apoptotic cells," says Schlegel. "We conclude that the
ABCA1 enzyme doesn't ...
Meth exposure in young adults leads to long-term behavioral consequences
... and her colleagues examined the role of GDNF in mice. At 2.5 months of age, the equivalent of adolescence in humans, mice with a partial GDNF gene deletion
were compared to mice without the gene deletion; both were given either methamphetamine or saline injections four times over an eight-hour period. ...
Non-coding RNAs help silence the mammalian transcription
... and Angelman syndromes, result from the deletion
of the identical portion of chromosome 15. Imprinting determines which disorder arises: When the deletion
involves the chromosome 15 that came from the ... the child has Prader-Willi syndrome, but when the deletion
involves the chromosome 15 that came from the ...
Major obesity gene is 'lost in the shuffle'
... was missing in gibbons.
"We found that this deletion
occurred between two pieces of DNA that are quite ... 'knockout' experiment," Ishida explains. "The deletion
?or 'knockout' ?of the ASIP gene may have ... so there is certainly reason to presume that this deletion
contributed to the gibbons' remarkably small body ...
Biomarkers may hone anti-aging therapies
... perhaps there was a specific mitochondrial DNA deletion
signature that would be associated with tumor ... The investigators searched for mitochondrial DNA deletion
mutations in skin samples from patients having ... aging process, Sligh said. The newly identified deletion
mutations will now go into "Mitomap," a database ...
Therapeutic prospects beyond Vioxx
... Other investigators had shown previously that deletion
of this enzyme seemed as effective as treatment ...
FitzGerald and his colleagues showed that deletion
of mPGES-1, in contrast to deletion
or inhibition of COX-2, did not predispose the ...