Results 101 to 110 of about 2,519,227 (189)

GNE-related thrombocytopenia (Thrombocytopenia-12) in a 3-month-old from a Middle Eastern background infant: a case report

Hematology
Background Congenital thrombocytopenia represents a diagnostically challenging group of disorders due to overlapping clinical presentations among various etiologies.Case Presentation A 3-month-old infant presented with severe thrombocytopenia (platelet ...
Omar Ahmed Alshaikhi, Elaf Yahia Faraj Alnasser   +1 more
doaj   +1 more source

Two recurrent mutations are associated with GNE myopathy in the North of Britain

, 2014
Objective GNE myopathy is a rare recessive myopathy associated with inclusion bodies on muscle biopsy. The clinical phenotype is associated with distal muscle weakness with quadriceps sparing.
Chaouch, Amina, Sarkozy, Anna, Brennan, Kathryn M., Stewart, Willie, Costigan, Donald, Evangelista, Teresinha, Lochmuller, Hanns, Morrison, Patrick J., Bushby, Kate, Eagle, Michelle, McConville, John, Farrugia, Maria E., Norwood, Fiona, Horvath, Rita, Straub, Volker, Pogoryelova, Oksana, Petty, Richard, Winer, John, Polvikoski, Tuomo, Chinnery, Patrick F., Hudson, Judith, Healy, Estelle, Longman, Cheryl   +22 more
core   +1 more source

Deciphering the role of acetylation-related gene NAT10 in colon cancer progression and immune evasion: implications for overcoming drug resistance

Discover Oncology
Background Colon cancer (CC) is one of the most common and lethal cancers worldwide, with rising incidence rates in both developed and developing countries.
Xuancheng Zhou, Xun Sang, Lai Jiang, Shengke Zhang, Chenglu Jiang, Yuheng Gu, Yipin Fu, Guanhu Yang, Jieyin Zhang, Hao Chi, Binbin Wang, Xiaolin Zhong   +11 more
doaj   +1 more source

Gene expression levels of GNE and Slc17a5.

, 2013
A) Relative GNE (sialic acid synthesis) and Slc17a5 (sialic acid uptake) expression levels in the central nervous system (CNS), liver and small and large intestine throughout development and aging in the mouse, rat and human.
Norbert Sprenger (368719), Andreas Fuerholz (122295), Peter I. Duncan (368718), Frédéric Raymond (51256)   +3 more
core   +1 more source

Two recurrent mutations are associated with GNE myopathy in the North of Britain

Objective GNE myopathy is a rare recessive myopathy associated with inclusion bodies on muscle biopsy. The clinical phenotype is associated with distal muscle weakness with quadriceps sparing.
Chaouch A, Bushby K, Eagle M, Pogoryelova O, Lochmuller H, McConville J, Chinnery PF, Norwood F, Brennan KM, Stewart W, Horvath R, Longman C, Petty R, Morrison PJ, Healy E, Costigan D, Straub V, Evangelista T, Winer J, Polvikoski T, Sarkozy A, Hudson J, Farrugia ME   +22 more
core   +4 more sources

Human Enterovirus D68 infection – the intricate dance of cells, genes, and invading bugs

Frontiers in Cellular and Infection Microbiology
The respiratory tract is particularly vulnerable to infections from various pathogens, often leading to severe illnesses. Co-infections involving multiple pathogens are commonly observed in respiratory diseases, although their underlying mechanisms ...
Hanne Lillerovde Ørstenvik, Ann-Kristin Tveten, Yanran Cao   +2 more
doaj   +1 more source

GNE: A Deep Learning Framework for Gene Network Inference by Aggregating Biological Information [PDF]

, 2019
BACKGROUND: The topological landscape of gene interaction networks provides a rich source of information for inferring functional patterns of genes or proteins.
Li, Rui, Haake, Anne R., Cui, Feng, Yu, Qi, KC, Kishan   +4 more
core  

PB0357 Hereditary Thrombocytopenia with Platelet Sialic Acid Deficiency and Mutations in the GNE Genes

Research and Practice in Thrombosis and Haemostasis, 2023
C. Montcrieff, K. Ferreira, T. Cheves, L. Massingham, J. Sweeney   +4 more
openaire   +1 more source

[<i>GNE</i> gene-related thrombocytopenia: a case report and literature review]. [PDF]

Zhongguo Dang Dai Er Ke Za Zhi
Lin S, Chen XJ.
europepmc   +1 more source

PO03 | Enlarged platelets with reduced GP IB/IX can indicate disorders other than Bernard-Soulier syndrome

Bleeding, Thrombosis and Vascular Biology
Background and Aims: Evaluation of platelet morphology is a cornerstone of the diagnostic work-up of patients with suspected inherited platelet disorders (IPD).
doaj   +1 more source