Results 101 to 110 of about 12,100,252 (298)

Copy Number Variations In Prenatal And Postnatal Genetic Diagnosis

, 2021
Bakalářská práce je zaměřena na variabilitu počtu kopií a variabilitu lidského genomu. Popisuje obecné informace o variabilitě počtu kopií, fyziologickém fungování v organismu a možných typech dědičnosti.
Dohnalová, Kristýna
core   +1 more source

The significance of copy number variations in schizophrenia [PDF]

British Journal of Psychiatry, 2014
Rees et al [1][1] seek to replicate the association with schizophrenia of copy number variants (CNVs) involving putative schizophrenia loci in a large case-control study. They conclude that 11 of the 15 previously implicated loci were strongly associated with schizophrenia.
openaire   +3 more sources

DNA ligase LigE increases bacterial transformation with damaged extracellular DNA

FEBS Letters, EarlyView.
The DNA ligase LigE from the naturally competent Gram‐negative bacterium Neisseria gonorrhoaea increases transformation with cut extracellular DNA. This process is ATP‐dependent and relies on the catalytic activity of LigE; it also requires that LigE contains an intact periplasmic localisation sequence, indicating that ligE functions in the periplasm ...
Jolyn Pan, Avi Singh, Shrawani Weralupe Gamladdalage, Joanna Hicks, Adele Williamson   +4 more
wiley   +1 more source

Unique conserved copy number variations on chromosomal DNA among each C. auris cluster.

, 2019
Unique conserved copy number variations on chromosomal DNA among each C. auris cluster.
Yoshitsugu Miyazaki (477146), Tsuyoshi Sekizuka (249989), Koichi Makimura (7480934), Takashi Umeyama (260343), Ken Kikuchi (263550), Shigekazu Iguchi (2793184), Yuba Inamine (7480931), Makoto Kuroda (249974)   +7 more
core   +1 more source

Going viral − Virus‐targeting nanobodies for research, diagnostics and therapy

FEBS Letters, EarlyView.
The increasing prevalence of viral diseases represents a major threat for global human health. Nanobodies, small binding fragments derived from camelid heavy‐chain antibodies, offer versatile tools for viral research, diagnostics, and antiviral therapy.
Domenic Ebert, Ulrich Rothbauer
wiley   +1 more source

Soft motions encoded by the fold and mediated by conserved hinge sites drive V‐ATPase allosteric machinery and autoinhibition

FEBS Letters, EarlyView.
Vacuolar H+‐ATPase (V‐ATPase) is a multisubunit rotary proton pump that acidifies intracellular compartments. Using elastic network models, we identified conserved hinge residues that govern its large‐scale functional motions. We show that intrinsically encoded ‘soft modes’ drive critical functional transitions, including rotary catalysis and ...
Diksha Parwana, Xiaowei Bogetti, Stuti Sharma, Ivet Bahar   +3 more
wiley   +1 more source

Copy number variation, chromosome rearrangement, and their association with recombination during avian evolution [PDF]

, 2010
Chromosomal rearrangements and copy number variants (CNVs) play key roles in genome evolution and genetic disease; however, the molecular mechanisms underlying these types of structural genomic variation are not fully understood.
Skinner, Benjamin M., Bunzey, Sydney K., Ellegren, Hans, Völker, Martin, Backström, Niclas, Langley, Elizabeth J, Griffin, Darren K., Skinner, Benjamin M, Bunzey, Sydney K, Griffin, Darren K, Ellegren, Hans,, Backström, Niclas,   +11 more
core   +1 more source

How structural disorder and polyelectrolyte properties of prothymosin α enable its large interactome

FEBS Letters, EarlyView.
In this review, complexes of the fully disordered and highly negatively charged prothymosin α are collected, described, and discussed. Linked to its poly‐electrostatic character, prothymosin α engages a large interactome through multiple different binding modes ranging from fully disordered complexes to short linear motif (SLiM)‐driven interactions ...
Ketty C. Tamburrini, Freia S. Buus, Benjamin Schuler, Birthe B. Kragelund   +3 more
wiley   +1 more source

The variations of the 16S ribosomal RNA operon copy number in genomes.

, 2015
* The 16S rRNA operon copy numbers were obtained from the Gene database at NCBI (http://www.ncbi.nlm.nih.gov/gene/).The variations of the 16S ribosomal RNA operon copy number in genomes.
Isao Kitajima (466575), Hideki Niimi (466571), Tomohiro Ueno (749580), Masashi Mori (185666), Satoshi Yoneda (654968), Hiroshi Minami (48273), Noriko Yoneda (654969), Homare Tabata (749581), Shigeru Saito (59384)   +8 more
core   +1 more source

Clinical Interpretation of Novel Copy Number Variations [PDF]

, 2011
Copy Number Variations: CNVs) are a significant source of human genetic diversity and are believed to be responsible for a wide variety of phenotypic variation.
Carey, Clifton
core   +1 more source