نتایج جستجو برای: fragile state

تعداد نتایج: 870191  

Journal: :Journal of medical genetics 1992
J C Mulley S Yu A K Gedeon A Donnelly G Turner D Loesch C J Chapman R J Gardner R I Richards G R Sutherland

The utility of the pfxa3 probe for direct molecular diagnosis of the fragile X (FRAXA) has been established. This probe detects amplification of an unstable DNA element consisting of variable length CCG repeats. The size of the amplified fragment is correlated with phenotype and was determined using PstI digested DNA in family members. In 35 families with the fragile X, there was correspondence...

Journal: :Proceedings of the National Academy of Sciences of the United States of America 2001
T Shiraishi T Druck K Mimori J Flomenberg L Berk H Alder W Miller K Huebner C M Croce

It has been suggested that delayed DNA replication underlies fragility at common human fragile sites, but specific sequences responsible for expression of these inducible fragile sites have not been identified. One approach to identify such cis-acting sequences within the large nonexonic regions of fragile sites would be to identify conserved functional elements within orthologous fragile sites...

Journal: :avicenna journal of medical biotechnology 0

background: fragile histidine triad protein (fhit), as a known tumor suppressor protein, has been proposed to play crucial role in inhibiting p53 degradation by mdm2. studies have confirmed fhit interaction with p53 or mdm2, although functional interacting domains of fhit with mdm2 and/or p53 are not completely defined. thus, through determining the significant structural interacting domains of...

Journal: :Journal of Machine Learning Research 2003
Stéphane Bounkong Borémi Toch David Saad David Lowe

We present a domain-independent ICA-based approach to watermarking. This approach can be used on images, music or video to embed either a robust or fragile watermark. In the case of robust watermarking, the method shows high information rate and robustness against malicious and nonmalicious attacks, while keeping a low induced distortion. The fragile watermarking scheme, on the other hand, show...

2011
Yusuke Suzuki Yuzu Uchida Jun Yoneyama J. Yoneyama

The paper is concerned with robust H∞ non-fragile controller design for uncertain descriptor systems with time-delay. A descriptor system has potential to describe a wide class of physical systems. It can give a representation of the system with algebraic constraints. A unique characteristic of descriptor systems is possible impulse modes and nonregularity, which do not appear in state-space sy...

2001
Takeshi Shiraishi Teresa Druck Koshi Mimori Jacob Flomenberg Lori Berk Hansjuerg Alder Webb Miller Kay Huebner Carlo M. Croce

It has been suggested that delayed DNA replication underlies fragility at common human fragile sites, but specific sequences responsible for expression of these inducible fragile sites have not been identified. One approach to identify such cis-acting sequences within the large nonexonic regions of fragile sites would be to identify conserved functional elements within orthologous fragile sites...

2015
Nandha Kumar

Fragile sites /Chromosomal aberrations play a role in the etiology of mental retardation and other associated complications. Since Down syndrome is the most common genetic cause of mental retardation, the present study was done to evaluate the effect of fragile sites on sys-temic diseases and growth and developmental pattern among them. Human lymphocyte cell culture with folate free medium show...

Journal: :Journal of medical genetics 1992
J Tarleton S Wong D Heitz C Schwartz

Genetic recombination near the fragile X locus (Xq27.3) has frequently been a problem in linkage studies of families in which the fragile X is segregating. This case report illustrates the resolution of a difficult situation in a fragile X family for whom cytogenetic studies were inconclusive and where recombination had twice confounded attempts at prenatal DNA diagnosis by RFLP analysis. Using...

Journal: :Cancer letters 2003
M F Arlt A M Casper T W Glover

Aphidicolin-induced common fragile sites are site-specific gaps or breaks seen on metaphase chromosomes after partial inhibition of DNA synthesis. These fragile sites were first recognized during the early studies of the fragile X syndrome and are induced by the same conditions of folate or thymidylate stress used to induce the fragile X site. Common fragile sites are normally stable in culture...

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