Results 81 to 90 of about 6,717 (197)

Clinical and Molecular Features of Patients With Congenital Disorders of Glycosylation in Japan

JIMD Reports
Congenital disorders of glycosylation (CDG) are a heterogeneous group of diseases caused by defects in various steps of the glycosylation pathway. There are over 200 known human glycosylation‐related disorders. Many of these defects lead to multisystemic
Nobuhiko Okamoto, Machiko Kadoya, Yoshinao Wada   +2 more
doaj   +1 more source

Candidate Dark Galaxy-2: Validation and Analysis of an Almost Dark Galaxy in the Perseus Cluster

The Astrophysical Journal Letters
Candidate Dark Galaxy-2 (CDG-2) is a potential dark galaxy consisting of four globular clusters (GCs) in the Perseus cluster, first identified in D. Li et al. through a sophisticated statistical method. The method searched for overdensities of GCs from a
Dayi (David) Li, Qing Liu, Gwendolyn M. Eadie, Roberto G. Abraham, Francine R. Marleau, William E. Harris, Pieter van Dokkum, Aaron J. Romanowsky, Shany Danieli, Patrick E. Brown, Alex Stringer   +10 more
doaj   +1 more source

Cyclic‐di‐GMP induces inflammation and acute lung injury through direct binding to MD2

Clinical and Translational Medicine
Background Severe bacterial infections can trigger acute lung injury (ALI) and acute respiratory distress syndrome, with bacterial pathogen‐associated molecular patterns (PAMPs) exacerbating the inflammatory response, particularly in COVID‐19 patients ...
Chenchen Qian, Weiwei Zhu, Jiong Wang, Zhe Wang, Weiyang Tang, Xin Liu, Bo Jin, Yong Xu, Yuyang Zhang, Guang Liang, Yi Wang   +10 more
doaj   +1 more source

Genetic Rescue of Pathogenic O-GlcNAc Dyshomeostasis Associated with Microcephaly and Motor Deficits. [PDF]

eNeuro
Authier F, Esperon-Abril I, Coquelin KS, Skoven CS, Eskildsen SF, Ondruskova N, Ferenbach AT, Thomsen JS, Hansen B, van Aalten DMF.   +9 more
europepmc   +2 more sources

Disease-specific growth charts capture characteristic growth patterns in children with PMM2 - CDG. [PDF]

Mol Genet Metab
Sarafoglou K, Lam C, Edmondson AC, Miller A, Starosta RT, Zeighami A, Horikoshi S, Vreugdenhil H, Scaglia F, Kozicz T, Tan QKG, Miller BS, Martínez-Duncker I, Berry GT, McWilliams P, Morava E, Addo Y.   +16 more
europepmc   +1 more source

ALG8-CDG [PDF]

, 2020
openaire   +1 more source

Biomimetic Studies on the Reactivity of Sulfur-Centered Radicals with Purine Moieties of DNA. [PDF]

Biomolecules
Masi A, Barata-Vallejo S, Chatgilialoglu C.   +2 more
europepmc   +1 more source

COG5-congenital disorder of glycosylation diagnosed by whole genome sequencing in siblings with unexplained optic atrophy, macular atrophy, and developmental delay: case report. [PDF]

Front Neurol
Granger K, Do C, Quindipan C, Schmidt R, Borchert MS, Nagiel A, Chang MY.   +6 more
europepmc   +1 more source

B4GALT1-CDG [PDF]

, 2020
openaire   +1 more source

Resistant Epilepsy and Developmental Delay in a Syndromic Infant: A Case of Congenital Disorder of Glycosylation Type Ik From India. [PDF]

Cureus
Trivedi S, Suvarna JC, Patel D, Nair P, Vaniawala S, Menon P, Tamhankar V, Tamhankar PM.   +7 more
europepmc   +1 more source