نتایج جستجو برای: genetic abnormalities

تعداد نتایج: 704179  

2008
Ana Stavljenić-Rukavina

It is known that perinatal mortality is caused in 20-25 percent of cases by inhaerited anomalies of fetuses and many of theese might be explained by genetic disorders. In general genetic disorder is a condition caused by abnormalities in genes or chromosomes. Chromosomes are complex bodies in cell nucleus as carriers of genes. While some diseases are due to genetic abnormalities acquired in a f...

2012
Atsuki Hiyama Chiyo Nohara Seira Kinjo Wataru Taira Shinichi Gima Akira Tanahara Joji M. Otaki

The collapse of the Fukushima Dai-ichi Nuclear Power Plant caused a massive release of radioactive materials to the environment. A prompt and reliable system for evaluating the biological impacts of this accident on animals has not been available. Here we show that the accident caused physiological and genetic damage to the pale grass blue Zizeeria maha, a common lycaenid butterfly in Japan. We...

Gourabi H Kalantari H Mohseni Meybodi A,

Background: Constitutional chromosome abnormalities are among the major contributors to the genetic causes of reproductive disorders. Despite all of worldwide efforts have been made so far, the prognosis for mosaic X chromosome aberration below 30% of unemployed has yet to be established. The purpose of this study was to assess the quantity and quiddity of chromosomal aberrations that may negat...

2014
Natalie J. Dorà J. Martin Collinson Robert E. Hill John D. West Saverio Bellusci

Eye phenotypes were investigated in Le-Cre(Tg/-); Pax6(fl/+) mice, which were expected to show tissue-specific reduction of Pax6 in surface ectoderm derivatives. To provide a better comparison with our previous studies of Pax6(+/-) eye phenotypes, hemizygous Le-Cre(Tg/-) and heterozygous Pax6(fl/+)mice were crossed onto the CBA/Ca genetic background. After the Le-Cre transgene had been backcros...

Journal: :Blood 2002
Christian M Zwaan Gertjan J L Kaspers Rob Pieters Karel Hählen Dieuwke R Huismans Martin Zimmermann Jochen Harbott Rosalyn M Slater Ursala Creutzig Anjo J P Veerman

Specific cytogenetic abnormalities predict prognosis in childhood acute myeloid leukemia (AML). However, it is unknown why they are predictive and whether this is related to drug resistance. We previously reported that Down syndrome (DS) AML was associated with favorable resistance profiles. Here, we successfully analyzed drug resistance and (cyto-) genetic abnormalities of 109 untreated childh...

Journal: :Journal of Alzheimer's disease : JAD 2010
Gary E Gibson Qingli Shi

Alzheimer's disease (AD) is defined by senile plaques made of amyloid-beta peptide (Abeta), neurofibrillary tangles made of hyperphosphorylated tau proteins, and memory deficits. Thus, the events initiating the cascade leading to these end points may be more effective therapeutic targets than treating each facet individually. In the small percentage of cases of AD that are genetic (or animal mo...

Journal: :Blood 2012
Davide Rossi Marco Fangazio Silvia Rasi Tiziana Vaisitti Sara Monti Stefania Cresta Sabina Chiaretti Ilaria Del Giudice Giulia Fabbri Alessio Bruscaggin Valeria Spina Clara Deambrogi Marilisa Marinelli Rosella Famà Mariangela Greco Giulia Daniele Francesco Forconi Valter Gattei Francesco Bertoni Silvia Deaglio Laura Pasqualucci Anna Guarini Riccardo Dalla-Favera Robin Foà Gianluca Gaidano

The genetic lesions identified to date do not fully recapitulate the molecular pathogenesis of chronic lymphocytic leukemia (CLL) and do not entirely explain the development of severe complications such as chemorefractoriness. In the present study, BIRC3, a negative regulator of noncanonical NF-κB signaling, was investigated in different CLL clinical phases. BIRC3 lesions were absent in monoclo...

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