Results 71 to 80 of about 2,410 (179)

Polysulfide Immobilization and Sulfur Conversion Kinetics Promotion via a Tetrathiafulvalene–Crown Ether COF@Graphene Layer for High‐Rate Lithium–Sulfur Batteries

Small, Volume 22, Issue 49, 1 September 2026.
A polysulfide‐regulating covalent organic framework (TUS‐44) integrating tetrathiafulvalene and crown‐ether linkers forms an electron‐delocalized, ion‐coordinative network that synergistically mediates Li–S redox chemistry. When interfaced with graphene, the TUS‐44@G layer functions as a catalytic and chemisorptive interface, enabling efficient ...
Kai Sun, Tsukasa Irie, Samim Reza, Kohki Sasaki, Mika Nozaki, Tokuhisa Kawawaki, Yujun Fu, Dequan Liu, Ranjit Thapa, Saikat Das, Deyan He, Yuichi Negishi   +11 more
wiley   +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

Instrumented assessment of gait disturbance in PMM2-CDG adults: a feasibility analysis

Orphanet Journal of Rare Diseases
Background Congenital disorders of glycosylation (CDG) are genetic diseases caused by impaired synthesis of glycan moieties linked to glycoconjugates.
Lara Cirnigliaro, Fabio Pettinato, Maria Stella Valle, Antonino Casabona, Agata Fiumara, Michele Vecchio, Valerio Amico, Renata Rizzo, Jaak Jaeken, Rita Barone, Matteo Cioni   +10 more
doaj   +1 more source

Congenital Disorder of Glycosylation: Clinical and Molecular Characteristics of 9 Patients from Turkey

Journal of Behçet Uz Children's Hospital, 2020
INTRODUCTION: Congenital disorders of glycosylation (CDG) is a group of genetic diseases that lead to impairment in protein and lipid glycosylation and glycosylphosphatidylinositol synthesis. More than 140 types of CDG have been identified and the number
Melis Kose, Engin Kose, Mehtap Kagnici, Hande Gazeteci Tekin, Burçin Ozen, Taha Reşid Ozdemir, Özgür Kirbiyik, Huseyin Onay, Ünsal Yilmaz, Aycan Unalp   +9 more
doaj   +1 more source

The Analysis of Variants in the General Population Reveals That PMM2 Is Extremely Tolerant to Missense Mutations and That Diagnosis of PMM2-CDG Can Benefit from the Identification of Modifiers [PDF]

, 2018
Type I disorders of glycosylation (CDG), the most frequent of which is phosphomannomutase 2 (PMM2-CDG), are a group of diseases causing the incomplete N-glycosylation of proteins.
Cubellis, Maria Vittoria, Andreotti, Giuseppina, Chiara Cimmaruta, Maria Monticelli, Cimmaruta C., Giuseppina Andreotti, MONTICELLI, MARIA, Citro V., Citro, Valentina, Riccio, Guglielmo, Maria Vittoria Cubellis, Valentina Citro, Cubellis M. V., Riccio G., Cimmaruta, Chiara, Mele B. H., Andreotti G., Guglielmo Riccio, Hay Mele, Bruno, Bruno Hay Mele, Monticelli M.   +20 more
core   +1 more source

Novel Compound Heterozygous Variants in the COG5 Gene Causing Fetal Hydrops and Skeletal Dysplasia

Molecular Genetics &Genomic Medicine, Volume 14, Issue 4, April 2026.
Two affected fetuses in a COG5‐CDG family exhibited fetal hydrops and skeletal malformations, which were found to segregate with the paternal frameshift variant c.1972del and the maternal splice‐site variant c.2168_2168+4delinsCATAAAA in the COG5 gene.
Qi Yang, Wei He, Qiang Zhang, Sheng Yi, Xunzhao Zhou, Linlin Wang, Shang Yi, Zailong Qin, Jingsi Luo   +8 more
wiley   +1 more source

The development of end stage renal disease in two patients with PMM2‐CDG

JIMD Reports, 2022
We report two patients with PMM2‐CDG who developed end stage renal disease (ESRD). Renal abnormalities of clinical significance have only been reported in about 6% of patients with PMM2‐CDG and have rarely been reported as the cause of death.
Henna Tiwary, Leah E. Hecht, William J. Brucker, Gerard T. Berry, Nancy M. Rodig   +4 more
doaj   +1 more source

Tuning Optoelectronic Properties and Photoelectrochemical Performance of β‐TaON via Vanadium Doping

Small, Volume 22, Issue 21, 13 April 2026.
Vanadium‐doped β‐TaON is studied to elucidate how controlled cation substitution modulates crystal and electronic structures and photoelectrochemical performance. Moderate vanadium incorporation (<10 at.%) retains phase purity, narrows the bandgap, and improves charge transport, whereas excessive doping (>10 at.%) induces secondary phases that suppress
Mirabbos Hojamberdiev, Ronald Vargas, Lorean Madriz, Dilshod Nematov, Ulugbek Shaislamov, Hajime Wagata, Yuta Kubota, Kunio Yubuta, Katsuya Teshima, Nobuhiro Matsushita   +9 more
wiley   +1 more source

Factor XII in PMM2-CDG patients: role of N-glycosylation in the secretion and function of the first element of the contact pathway

Orphanet Journal of Rare Diseases, 2020
Background Congenital disorders of glycosylation (CDG) are rare diseases with impaired glycosylation and multiorgan disfunction, including hemostatic and inflammatory disorders.
Raquel López-Gálvez, María Eugenia de la Morena-Barrio, Alberto López-Lera, Monika Pathak, Antonia Miñano, Mercedes Serrano, Delphine Borgel, Vanessa Roldán, Vicente Vicente, Jonas Emsley, Javier Corral   +10 more
doaj   +1 more source

Polymorphism in Tetramethylammonium Selenocyanate – Crystal Structures of α‐, β‐, and γ‐[NMe4][SeCN]

Zeitschrift für anorganische und allgemeine Chemie, Volume 652, Issue 5, 18 March 2026.
This study reports the synthesis and crystallographic investigation of tetramethylammonium selenocyanate. The structures of α‐, β‐, and γ‐[NMe4][SeCN] are related to one another and also to the CsCl‐type. In the solid state, tetramethylammonium selenocyanate, [NMe4][SeCN], is polymorphic.
Sven Ringelband, Jonathan Pfeiffer, Hennes Günther, Sergei Ivlev, Frank Tambornino   +4 more
wiley   +1 more source