نتایج جستجو برای: triplication

تعداد نتایج: 451  

2014
Adrian Flierl Luís M. A. Oliveira Lisandro J. Falomir-Lockhart Sally K. Mak Jayne Hesley Frank Soldner Donna J. Arndt-Jovin Rudolf Jaenisch J. William Langston Thomas M. Jovin Birgitt Schüle

Parkinson disease (PD) is a multi-factorial neurodegenerative disorder with loss of dopaminergic neurons in the substantia nigra and characteristic intracellular inclusions, called Lewy bodies. Genetic predisposition, such as point mutations and copy number variants of the SNCA gene locus can cause very similar PD-like neurodegeneration. The impact of altered α-synuclein protein expression on i...

2017
Patrick M. Cowley Divya R. Nair Lara R. DeRuisseau Stefan Keslacy Mustafa Atalay Keith C. DeRuisseau

Down syndrome (DS) is a genetic condition caused by the triplication of chromosome 21. Persons with DS exhibit pronounced muscle weakness, which also occurs in the Ts65Dn mouse model of DS. Oxidative stress is thought to be an underlying factor in the development of DS-related pathologies including muscle dysfunction. High-levels of oxidative stress have been attributed to triplication and elev...

Journal: :IEEE Trans. Electronic Computers 1967
John B. Connolly William G. Schmidt

There are generally considered to be four major types of digital circuit redundancy techniques in use today. They are the Shannon-Moore component redundancy method, the "quadded logic" approach suggested by Tryon,von Neumann's triplication and majority-voting technique, and the basic standby redundancy systems. When viewed in the light of design criteria which are based upon the requirements of...

Journal: :Plant physiology 2007
Martin A Lysak Kwok Cheung Michaela Kitschke Petr Bures

The paleopolyploid character of genomes of the economically important genus Brassica and closely related species (tribe Brassiceae) is still fairly controversial. Here, we report on the comparative painting analysis of block F of the crucifer Ancestral Karyotype (AK; n = 8), consisting of 24 conserved genomic blocks, in 10 species traditionally treated as members of the tribe Brassiceae. Three ...

Journal: :Clinical chemistry 2006
Ilka Warshawsky Olga B Chernova Christian A Hübner Reinhard Stindl Marco Henneke Andreas Gal Marvin R Natowicz

BACKGROUND Pelizaeus-Merzbacher disease is a rare X-linked neurodegenerative disorder caused by sequence variations in the proteolipid protein 1 gene (PLP1). PLP1 gene duplications account for approximately 50%-75% of cases and point variations for approximately 15%-20% of cases; deletions and insertions occur infrequently. We used multiplex ligation-dependent probe amplification (MLPA) to dete...

نمودار تعداد نتایج جستجو در هر سال

با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید