Researchers determine genetic cause of Timothy syndrome
...o block calcium flow at the appropriate time. This abnormality could explain the lethal cardiac arrhythmias in Timothy syndrome patients, said Keating. Further genetic analyses of the particular mutation also showed why it occurred in the same place in all instances of the disease. That analysis reveal...Screen siblings, parents of infants with severe heart abnormalities
...e heart had a fivefold increased risk of having an abnormality called bicuspid aortic valve. The finding solidifies the currently held belief that such disorders are related to several genes - as few as two and as many as six, said Belmont. "What this tells us, is that multiple other re...A genetic disorder yields insight into genes and cognition
...function in WS, demonstrate effects of a localized abnormality on visual information processing in humans, and define a systems-level phenotype for mapping genetic determinants of visuoconstructive function." Such insights, they said, should help scientists trace the genetic origin and molecular causes of the di...Rare deficit maps thinking circuitry
... structurally abnormal area. "The location of the abnormality also suggests a strategy for improving visual-spatial-construction function," noted Meyer-Lindenberg. "It is like a roadblock, but it should mainly affect stimuli that don't move. Incorporating motion into stimuli might provide an alternate route and...Study suggests cell-cycle triggers might be cancer drug targets
...eory and previous laboratory experiments. The only abnormality in the triple knockout mice was a deficiency of blood-forming cells, causing them to be pale and anemic, and was ultimately fatal. But the Dana-Farber researchers can't yet say if this would create problems for an anti-cyclin cancer therapy in patien...LBP-1a gene mutation linked to disruption of normal fetal development
...s the lack of normal blood vessels and not another abnormality in the placenta that caused fetal growth retardation. The researchers concluded that normal formation of the placenta cannot occur in embryos lacking LBP-1a because of a defect in the formation of critical blood vessels needed to obtain nutrients fr...Depression traced to overactive brain circuit
...they are not depressed. Researchers discovered the abnormality in brains of those whose depressions relapsed when a key brain chemical messenger was experimentally reduced. Even when in remission, most subjects with a history of mood disorder experienced a temporary recurrence of symptoms when their brains were ...Common therapy for HIV associated with cervical abnormality regression
...sociated with the regression of a type of cervical abnormality that can eventually lead to cancer, according to a... healthy women, the low-grade form of this type of abnormality often disappears on its own without treatment. Also, women who are HIV-positive are at an increased ...New study confirms process leading to disorder causing male characteristics in women
...arian production of hormonal steroids is a primary abnormality in PCOS. Human studies of PCOS have found abnormal ovarian steroid responses to administration of gonadial hormones, specifically potent gonadotropin-releasing hormone (GnRH) agonist or a high dose of human chorionic gonadotropin (hCG). The stimuli...Zebrafish model human development and disease
...funk (cfk). Genetic mapping of cfk showed that the abnormality was caused by a mutation in a gene encoding a novel actin molecule that is most closely related to the actins found in muscle cells. Actin is involved in muscle contraction; so these results suggest that muscle contraction in the embryonic heart is ...Closing in on the cellular culprits of schizophrenia
... thus impairing communication between neurons. The abnormality was most prominent in the dentate gyrus portion of the hippocampus. This area of the brain is especially important for memory, which is known to be impaired in schizophrenia. The study's findings were independently replicated, using two collections o...Kinase backgrounder: Iressa discovery part of major kinase project at Dana-Farber
...d hard-to-treat cancer CML, caused by a chromosome abnormality that triggers a runaway kinase signal. Initially approved only for CML, Gleevec rapidly gained federal approval for use against GIST in early 2002, thanks in part to research and advocacy by Dana-Farber's George Demetri, MD. It is now viewed as the w...Genetic basis of hereditary nerve disorder revealed
..., Charcot-Marie-Tooth disease (CMT), stems from an abnormality in the cellular powerhouses, or mitochondria, that fuel the nerves required for muscle control, suggests new findings by neurogeneticists at the Duke Center for Human Genetics and their international colleagues. The unexpected discovery could open ne...Research on inherited eye disorders uncovers new information about blood-vessel formation
...with a range of severity all the way from a modest abnormality of vasculature that does not impair vision at all to a severity of scarring that eliminates vision completely," said Nathans. FEVR is known to arise from defects in a gene known as Frizzled-4 , which codes for a protein receptor (Fz4). Although Nath...Rb protein's role in retina development is key to understanding devastating eye cancer
...toma is a developmental tumor, caused by a genetic abnormality in a tissue or organ present in the developing embryo. Following birth, this abnormality triggers cancer in that tissue or organ during infancy or childhood. The St. Jude study also broke ...Cystic fibrosis gene linked to fatty acid defects
...om mouse studies and show that the same fatty acid abnormality occurs in humans with CF, is related to the degree of abnormality in the gene, and is not a consequence of inflammation. These new findings, described in a study led ...Novel therapies show promise against myeloid leukemia
...cells that contain the Philadelphia chromosome, an abnormality that is unique to CML cells. The fewer cells that test positive for the Philadelphia chromosome, the better the cytogenetic response. At least 88 percent of patients who were = 35 percent positive for the Philadelphia chromosome (Ph) at three, six, ...UT Southwestern researchers learn importance of insulin family signaling in male sex determination
...chidism impaired testicular descent a congenital abnormality affecting 2 percent to 3 percent of full-term human males at birth. Sex determination switches are diverse and can vary based on the presence of a Y or an X chromosome, environmental factors and social factors. Also, the structure of testes is quite ...A sweet tooth may be a 'marker' for the genetic risk for developing alcoholism
...believe that children of alcoholics have a genetic abnormality of the brain opioid system, which leads to an incr...ity to the rewarding effects of alcohol. The same abnormality of the brain opioid system may also lead to a preference for stronger sweet solutions." "These studi......bout 12 percent of AML patients have a chromosomal abnormality that fuses a piece of chromosome 21 to chromosome 8. The genetic mutation leads to production of an abnormal protein known as aml1-eto. But this change alone isn't enough to cause AML in humans or animals. Tomasson and colleagues examined mice trans...