Results 81 to 90 of about 1,755 (160)

Electronic Structures of Framework‐Substituted Type‐I Tin Clathrate Semiconductors

Advances in Condensed Matter Physics, Volume 2026, Issue 1, 2026.
Density functional theory (DFT) calculations within the local density approximation (LDA) method were employed to investigate the electronic structure and tuning mechanisms of framework‐substituted Type‐I tin–based clathrates. The calculation reveals that Ga (or Al) preferentially occupies Wyckoff 6c crystallographic sites, whereas the remaining ...
Dong Xue, Yanbin Deng, Charles W. Myles, Yulong Bai   +3 more
wiley   +1 more source

A Novel Variant of CORO1A Gene Contributing to the Development of Primary Immunodeficiency in Children

Case Reports in Immunology, Volume 2026, Issue 1, 2026.
Introduction The case report describes a novel finding of a homozygous variant in the coronin 1A (CORO1A) gene, associated with atypical severe combined immunodeficiency (SCID) in a 9‐year‐old female patient with recurrent infections and unique immunological features, including periodic T‐cell lymphocytosis and T‐ and B‐cell lymphopenia.
Alanoud Aljohani, Yazeed Alayed, Bashayer Alrasheed, Hamza Alghamdi, Mofareh Alzahrani, Khalid Alshaigi, Xiancai Zhong   +6 more
wiley   +1 more source

Synaptic roles for phosphomannomutase type 2 in a new Drosophila congenital disorder of glycosylation disease model

Disease Models & Mechanisms, 2016
Congenital disorders of glycosylation (CDGs) constitute a rapidly growing family of human diseases resulting from heritable mutations in genes driving the production and modification of glycoproteins.
William M. Parkinson, Michelle Dookwah, Mary Lynn Dear, Cheryl L. Gatto, Kazuhiro Aoki, Michael Tiemeyer, Kendal Broadie   +6 more
doaj   +1 more source

A quantitative assessment of the evolution of cerebellar syndrome in children with phosphomannomutase-deficiency (PMM2-CDG)

Orphanet Journal of Rare Diseases, 2017
Background We aim to delineate the progression of cerebellar syndrome in children with phosphomannomutase-deficiency (PMM2-CDG) using the International Cooperative Ataxia Rating Scale (ICARS).
Natalia Lourdes Serrano, Victor De Diego, Daniel Cuadras, Antonio F. Martinez Monseny, Ramón Velázquez-Fragua, Laura López, Ana Felipe, Luis G. Gutiérrez-Solana, Alfons Macaya, Belén Pérez-Dueñas, Mercedes Serrano, CDG Spanish-Consortium   +11 more
doaj   +1 more source

rhIGF-1 Therapy for Growth Failure and IGF-1 Deficiency in Congenital Disorder of Glycosylation Ia ( Deficiency)

Journal of Investigative Medicine High Impact Case Reports, 2013
Background . Congenital disorders of glycosylation (CDG) are a group of rare disorders in which glycosylation required for proper protein-protein interactions and protein stability is disrupted, manifesting clinically with multiple system involvement and
Bradley S. Miller MD, PhD, Meghann M. Duffy MD, O. Yaw Addo PhD, Kyriakie Sarafoglou MD   +3 more
doaj   +1 more source

Congenital disorder of glycosylation type Ia in a Chinese family: Function analysis of a novel PMM2 complex heterozygosis mutation

Molecular Genetics and Metabolism Reports
Congenital disorder of glycosylation type Ia (CDG-Ia) is an autosomal recessive genetic disease caused by a mutation in the phosphomannomutase 2 (PMM2) gene. We have identified a 13-month-old boy who has been diagnosed with CDG-Ia.
Dan Zhong, Xiujuan Huang, Taoshan Feng, Jieqing Zeng, Shanshan Gu, Fan Ning, Yue Yang, Jinyuan Zhu, Yajun Wang, Riling Chen, Guoda Ma   +10 more
doaj   +1 more source

PMM2-CDG [PDF]

, 2020
openaire   +1 more source

Establishing an auxin-inducible GFP nanobody-based acute protein knockdown system to mimic hypomorphic mutations during early medaka embryogenesis. [PDF]

Biol Open
Pakari K, Jakab S, Rasch J, Salvador ES, Wittbrodt B, Thiel C, Wittbrodt J, Thumberger T.   +7 more
europepmc   +2 more sources

Recurrent fetal truncus arteriosus associated with PMM2‐CDG

JIMD Reports, 2021
Filipa Malheiro, Manuela Silva, Carlos Macedo, Carla Ramalho   +3 more
openaire   +3 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