Results 51 to 60 of about 3,903 (190)

Theory of hypothetical ferroelectric superlattices incorporating head-to-head and tail-to-tail 180$^\circ$ domain walls

, 2005
While electrical compatibility constraints normally prevent head-to-head (HH) and tail-to-tail (TT) domain walls from forming in ferroelectric materials, we propose that such domain walls could be stabilized by intentional growth of atomic layers in ...
David Vanderbilt, G. Kresse, Xifan Wu
core   +1 more source

First-principles study of PbTiO$_3$ under uniaxial strains and stresses [PDF]

, 2014
The behavior of PbTiO$_3$ under uniaxial strains and stresses is investigated from first-principles calculations within density functional theory. We show that irrespectively of the uniaxial mechanical constraint applied, the system keeps a purely ...
Ghosez, Philippe, Kreisel, Jens, Sharma, Henu   +2 more
core   +2 more sources

Spontaneous improvement of carbohydrate-deficient transferrin in PMM2-CDG without mannose observed in CDG natural history study

Orphanet Journal of Rare Diseases, 2021
A recent report on long-term dietary mannose supplementation in phosphomannomutase 2 deficiency (PMM2-CDG) claimed improved glycosylation and called for double-blind randomized study of the dietary supplement in PMM2-CDG patients.
Peter Witters, Andrew C. Edmondson, Christina Lam, Christin Johnsen, Marc C. Patterson, Kimiyo M. Raymond, Miao He, Hudson H. Freeze, Eva Morava   +8 more
doaj   +1 more source

Anomalous thermal expansion in 1D transition-metal cyanides: what makes the novel trimetallic cyanide Cu1/3Ag1/3Au1/3CN behave differently? [PDF]

, 2019
The structural dynamics of a quasi-one-dimensional (1D) mixed-metal cyanide, Cu1/3Ag1/3Au1/3CN, with intriguing thermal properties is explored. All the current known related compounds with straight-chain structures, such as group 11 cyanides CuCN, AgCN ...
A. Sjölander, Ann M. Chippindale, Camille Wright, D. C. Wallace, D. L. Price, Dean S. Keeble, Mohamed Zbiri, Nicholas H. Rees, Simon J. Hibble, Stella d’Ambrumenil   +9 more
core   +2 more sources

Neural and metabolic dysregulation in PMM2-deficient human in vitro neural models

Cell Reports
Summary: Phosphomannomutase 2-congenital disorder of glycosylation (PMM2-CDG) is a rare inborn error of metabolism caused by deficiency of the PMM2 enzyme, which leads to impaired protein glycosylation.
Silvia Radenkovic, Rohit Budhraja, Teun Klein-Gunnewiek, Alexia Tyler King, Tarun N. Bhatia, Anna N. Ligezka, Karen Driesen, Rameen Shah, Bart Ghesquière, Akhilesh Pandey, Nael Nadif Kasri, Steven A. Sloan, Eva Morava, Tamas Kozicz   +13 more
doaj   +1 more source

Congenital disorder of glycosilation PMM2-CDG

Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics), 2019
Congenital glycosylation disorders represent a group of genetically determined diseases which violate the synthesis and addition of glycans to glycoproteins and glycolipids, and also the synthesis of glycosylphosphatidyl inositol. The most common defects are the defects of protein N-glycosylation.
A. A. Kamalova, A. R. Shakirova, M. R. Shaydullina, L. D. Cheminava, L. B. Ganieva, A. N. Badretdinova, S. S. Saetov   +6 more
openaire   +2 more sources

Measurement of 1.7 to 74 MeV polarised gamma rays with the HARPO TPC

, 2016
Current {\gamma}-ray telescopes based on photon conversions to electron-positron pairs, such as Fermi, use tungsten converters. They suffer of limited angular resolution at low energies, and their sensitivity drops below 1 GeV.
Amano, S., Attié, D., Bernard, D., Bruel, P., Calvet, D., Colas, P., Daté, S., Delbart, A., Frotin, M., Geerebaert, Y., Giebels, B., Gros, Ph., Götz, D., Hashimoto, S., Horan, D., Kotaka, T., Louzir, M., Minamiyama, Y., Miyamoto, S., Ohkuma, H., Poilleux, P., Semeniouk, I., Sizun, P., Takemoto, A., Wang, S., Yamaguchi, M.   +25 more
core   +3 more sources

Congenital disorder of glycosylation – one size does not fit all: a parent’s perspective

Therapeutic Advances in Rare Disease, 2022
This article is written by the parent of a child living with PMM2 -congenital disorder of glycosylation (abbreviated to PMM2 -CDG). It provides a parental perspective of the journey taken from diagnosis to present day and details the effect of off-label ...
Konstantin Feinberg
doaj   +1 more source

Evaluation of Patients Diagnosed with Congenital Glycosylation Defects: A Rainbow of Inherited Metabolic Disorders

Çocuk Dergisi, 2023
Introduction: Congenital glycosylation defects (CDGs) manifest with multisystemic symptoms involving the immune, central nervous, endocrine, and musculoskeletal systems. A total of 137 distinct CDG types have been identified to date.
Sebile Kılavuz, Fatma Derya Bulut, Deniz Kor, Berna Şeker Yılmaz, Atıl Bişgin, Fadli Demir, Bahriye Atmış, Derya Alabaz, Neslihan Mungan, Mustafa Yılmaz   +9 more
doaj   +1 more source

Three families with mild PMM2‐CDG and normal cognitive development [PDF]

American Journal of Medical Genetics Part A, 2017
Congenital disorders of glycosylation (CDG) are caused by defective glycosylation of proteins and lipids. PMM2‐CDG is the most common subtype among the CDG. The severity of PMM2‐CDG is variable. Patients often have a recognizable phenotype with neurological and multisystem symptoms that might cause early death.
Vals, M.A., Morava, E., Teeäär, K., Zordania, R., Pajusalu, S., Lefeber, D.J., Lefeber, D.J., Õunap, K.   +7 more
openaire   +3 more sources