Search results for "mismatch"
showing 10 items of 345 documents
Prenatal diagnosis of a rhodopsin mutation using chemical cleavage of the mismatch
2002
Objective: Mutations of the rhodopsin gene are responsible for autosomal dominant or recessive retinitis pigmentosa (RP). The present study reports the first prenatal diagnosis performed on chorionic villi biopsy of a pregnant woman affected by a severe form of autosomal dominant transmitted RP, due to the Arg135Trp substitution. Methods: The rhodopsin gene was analysed by automated direct sequencing and, for the first time, by fluorescence-assisted mismatch analysis (FAMA). The latter is an inexpensive, rapid and particularly sensitive method, based on the chemical cleavage of the mismatch in heteroduplex DNA molecules marked with strand-specific fluorophores. Results: FAMA is a feasible p…
Mismatch negativity during objective and subjective sleepiness.
1997
The mismatch negativity (MMN) and P3 of auditory event-related potentials were studied during subjectively and objectively (physiologically) defined sleepiness under optimal stimulus conditions for MMN elicitation. The MMN and P3 were elicited by either small or large unattended auditory deviants presented to the left ear. The participant's task was to detect either rare auditory targets presented to the right ear or rare changes in the light flashes. Eleven young adults served as participants in a nighttime experiment. The MMN declined especially at Fz and Cz but not so markedly at the right mastoid as either subjective or objective alertness decreased. The amplitude of P3 also decreased d…
Brain reacts to occasional changes in duration of elements in a continuous sound
1995
In order to study the event-related potential correlates of human ability to detect temporal changes within a continuous sound a sound consisting of two alternating pitches of the same constant duration, with infrequent shortenings of one of the tones, was presented to the subjects. The infrequent shortenings were found to elicit a negative component of the auditory event related potential, called the mismatch negativity (MMN). The experimental parameters were chosen to produce a MMN with a minimal contamination of N1, the main negative deflection of an evoked response with the same latency range as MMN and with a short experimental time. The duration of the whole experiment with three diff…
Repair of oxidatively generated DNA damage in Cockayne syndrome
2013
Defects in the repair of endogenously (especially oxidatively) generated DNA modifications and the resulting genetic instability can potentially explain the clinical symptoms of Cockayne syndrome (CS), a hereditary disease characterized by developmental defects and neurological degeneration. In this review, we describe the evidence for the involvement of CSA and CSB proteins, which are mutated in most of the CS patients, in the repair and processing of DNA damage induced by reactive oxygen species and the implications for the induction of cell death and mutations. Taken together, the data demonstrate that CSA and CSB, in addition to their established role in transcription-coupled nucleotide…
Somatosensory event-related potentials in the rabbit cerebral and cerebellar cortices: a correspondence with mismatch responses in humans.
2001
Somatosensory event-related potentials (ERPs) were recorded from the cerebellar (CerCx), somatosensory (SomCx) and visual (VCx) cortices in rabbits in two stimulus conditions. In the oddball condition, airpuffs to two different locations in the rabbit's muzzle corresponded to infrequently presented deviant stimuli (oddball-deviants) interspersed with frequently presented standard stimuli. In the deviant-alone condition, deviants (alone-deviants) were presented without standards. ERPs to oddball-deviants differed significantly from those to standards in CerCx and SomCx, but not in VCx. Furthermore, some of these differences were not found between ERPs to alone-deviants and those to standards…
Transgenic systems in studies on genotoxicity of alkylating agents: critical lesions, thresholds and defense mechanisms
1998
Abstract Transgenic systems, both cell lines and mice with gain or loss of function, are being used in order to modulate the expression of DNA repair proteins, thus allowing to assess their contribution to the defense against genotoxic mutagens and carcinogens. In this review, questions have been addressed concerning the use of transgenic systems in elucidating critical primary DNA lesions, their conversion into genotoxic endpoints, low-dose effects, and the relative contribution of individual cellular functions in defense. It has been shown that the repair protein alkyltransferase (MGMT) is decisive for protection against methylating and chloroethylating compounds. Protection pertains also…
MGMT: Key node in the battle against genotoxicity, carcinogenicity and apoptosis induced by alkylating agents
2007
O(6)-methylguanine-DNA methyltransferase (MGMT) plays a crucial role in the defense against alkylating agents that generate, among other lesions, O(6)-alkylguanine in DNA (collectively termed O(6)-alkylating agents [O(6)AA]). The defense is highly important, since O(6)AA are common environmental carcinogens, are formed endogenously during normal cellular metabolism and possibly inflammation, and are being used in cancer therapy. O(6)AA induced DNA damage is subject to repair, which is executed by MGMT, AlkB homologous proteins (ABH) and base excision repair (BER). Although this review focuses on MGMT, the mechanism of repair by ABH and BER will also be discussed. Experimental systems, in wh…
Mismatch G-T binding activity and MSH2 expression is quantitatively related to sensitivity of cells to methylating agents
1998
To elucidate mechanisms involved in alkylating drug resistance, Chinese hamster cells resistant to methylating agents have been generated upon transfection with human DNA. Here it is shown that these Chinese hamster ovary (CHO) variants exhibit the tolerance phenotype: they are alkyltransferase deficient (Mex-), cross-resistant to 6-thioguanine, exhibit reduced G-T binding (MutS alpha) activity and express the mismatch repair protein MSH2 at a significantly lower level than the corresponding control. By comparing wild-type cells with different tolerant strains that show gradual differences in resistance to methylating agents, it was shown that both the G-T binding activity and the amount of…
Classifying Healthy Children and Children with Attention Deficit through Features Derived from Sparse and Nonnegative Tensor Factorization Using Even…
2010
In this study, we use features extracted by Nonnegative Tensor Factorization (NTF) from event-related potentials (ERPs) to discriminate healthy children and children with attention deficit (AD). The peak amplitude of an ERP has been extensively used to discriminate different groups of subjects for the clinical research. However, such discriminations sometimes fail because the peak amplitude may vary severely with the increased number of subjects and wider range of ages and it can be easily affected by many factors. This study formulates a framework, using NTF to extract features of the evoked brain activities from time-frequency represented ERPs. Through using the estimated features of a ne…
Climate change and the ecology and evolution of Arctic vertebrates.
2012
25 pages; International audience; Climate change is taking place more rapidly and severely in the Arctic than anywhere on the globe, exposing Arctic vertebrates to a host of impacts. Changes in the cryosphere dominate the physical changes that already affect these animals, but increasing air temperatures, changes in precipitation, and ocean acidification will also affect Arctic ecosystems in the future. Adaptation via natural selection is problematic in such a rapidly changing environment. Adjustment via phenotypic plasticity is therefore likely to dominate Arctic vertebrate responses in the short term, and many such adjustments have already been documented. Changes in phenology and range w…