Results 61 to 70 of about 208,269 (282)

Analysis of Treacher Collins syndrome 4‐associated mutations in Schizosaccharomyces pombe

FEBS Open Bio, EarlyView.
Fission yeast models carrying Treacher Collins syndrome type 4‐associated mutations reveal that impaired processivity of RNA polymerase I leads to defective rRNA transcription. This study highlights the essential role of a conserved arginine residue in Pol I elongation and provides mechanistic insight into the pathogenesis of ribosomopathies.
Kei Kawakami, Hiroaki Kato
wiley   +1 more source

Monogenic Auto-inflammatory Syndromes: A Review of the Literature

Iranian Journal of Allergy, Asthma and Immunology, 2017
Auto-inflammatory syndromes are a new group of distinct hereditable disorders characterized by episodes of seemingly unprovoked inflammation (most commonly in skin, joints, gut, and eye), the absence of a high titer of auto-antibodies or auto-reactive T ...
Gholamreza Azizi, Shahin Khadem Azarian, Sepideh Nazeri, Ali Mosayebian, Saleh Ghiasy, Ghazal Sadri, Ali Mohebi, Nikoo Hossein Khan Nazer, Sanaz Afraei, Abbas Mirshafiey   +9 more
doaj  

Secure Coherent-state Quantum Key Distribution Protocols with Efficient Reconciliation

, 2004
We study the equivalence between a realistic quantum key distribution protocol using coherent states and homodyne detection and a formal entanglement purification protocol.
F. Grosshans, G. D’Ariano, G. Van Assche, N. J. Cerf, P. Navez, R. Renner, S. Iblisdir, S. Lorenz, T. C. Ralph   +8 more
core   +1 more source

Carbohydrate-Deficient Glycoprotein Syndromes: Inborn Errors of Protein Glycosylation [PDF]

Annals of Clinical Biochemistry: International Journal of Laboratory Medicine, 1999
The carbohydrate-deficient glycoprotein (CDG) syndromes (CDGS) are a series of autosomal recessive enzyme deficiencies which result in incomplete glycosylation of plasma proteins. CDGS types Ia and Ib have been related to deficiencies of phosphomannomutase and phosphomannose isomerase, respectively, while CDGS type II results from a deficiency of N ...
G, Keir, B G, Winchester, P, Clayton
openaire   +2 more sources

Pathogenic Neurofibromatosis type 1 gene variants in tumors of non‐NF1 patients and role of R1276

FEBS Open Bio, EarlyView.
Somatic variants of the neurofibromatosis type 1 (NF1) gene occur across neoplasms without clinical manifestation of the disease NF1. We identified emerging somatic pathogenic NF1 variants and hotspots, for example, at the arginine finger 1276. Those missense variants provide fundamental information about neurofibromin's role in cancer.
Mareike Selig, Swanhild Lohse, Sara Elahi, Nils Hartmann, Stefanie Deckert, Shutian Si, Alexander Desuki, Anja Harder   +7 more
wiley   +1 more source

PROPERTIES OF GROUPS G OF DOUBLE ERRORS AND ITS INVARIANTS IN BCH CODES

Системный анализ и прикладная информатика, 2018
The goal of the work is the further extending the scope of application of code automorthism in methods and algorithms of error correction by these codes. The effectiveness of such approach was demonstrated by norm of syndrome theory that was developed by
V. A. Lipnitskij, A. V. Serada
doaj   +1 more source

Fully Automatic Landmarking of Syndromic 3D Facial Surface Scans Using 2D Images

Sensors, 2020
3D facial landmarks are known to be diagnostically relevant biometrics for many genetic syndromes. The objective of this study was to extend a state-of-the-art image-based 2D facial landmarking algorithm for the challenging task of 3D landmark ...
Jordan J. Bannister, Sebastian R. Crites, J. David Aponte, David C. Katz, Matthias Wilms, Ophir D. Klein, Francois P. J. Bernier, Richard A. Spritz, Benedikt Hallgrímsson, Nils D. Forkert   +9 more
doaj   +1 more source

Decoding Small Surface Codes with Feedforward Neural Networks

, 2017
Surface codes reach high error thresholds when decoded with known algorithms, but the decoding time will likely exceed the available time budget, especially for near-term implementations. To decrease the decoding time, we reduce the decoding problem to a
Bertels, Koen, Criger, Ben, Varsamopoulos, Savvas   +2 more
core   +1 more source

ATP13A2 is involved in intracellular polyamine transport in lung epithelial cells

FEBS Open Bio, EarlyView.
Spermidine transport in lung epithelial cells involves the polyamine transporter ATP13A2. Cell proliferation is associated with the upregulation of ATP13A2. Polyamines are present in all living cells and are implicated in various crucial cellular processes such as proliferation, apoptosis and autophagy.
Yuta Hatori, Kohei Kawabata, Takanori Kubo, Takeo Kitazawa, Sae Kanai, Madoka Iwashita, Ami Hayashi, Hiroyuki Nishi, Mikihisa Takano   +8 more
wiley   +1 more source

Quantum Error-Correcting Codes Need Not Completely Reveal the Error Syndrome

, 1996
Quantum error-correcting codes so far proposed have not worked in the presence of noise which introduces more than one bit of entropy per qubit sent through a quantum channel, nor can any code which identifies the complete error syndrome. We describe a code which does not find the complete error syndrome and can be used for reliable transmission of ...
Shor, Peter W., Smolin, John A.
openaire   +2 more sources