Results 81 to 90 of about 212 (100)

Identification of novel genes involved in brain abnormality syndromes using next generation sequencing [PDF]

open access: yes, 2016
Since the 1980s there has been a steady increase in the number of genes identified which play a role in human disease. The Human Genome Project and arrival of Next Generation Sequencing (NGS) have helped accelerate the rate of discovery such that the ...

core  

Systematic review of genetic variants associated with the simultaneous presence of orofacial cleft and congenital heart defect

open access: yes, 2022
Prirojene napake veljajo za enega izmed glavnih vzrokov neonatalne umrljivosti v današnjem razvitem svetu. Med najpogostejše spadajo orofacialne shize in prirojene srčne napake.
Lešnik, Nika
core  

Genetically Predicted Gene Expression and Circulating Metabolites Associated with Cervical High-Grade Squamous Intraepithelial Lesion: A Mendelian Randomization Study

open access: yesInternational Journal of Women's Health
Bozhou Cui,1,* Yan Ding,2 Feixia Li,2 Tuoyang Hu,2 Jiaojiao Zhu,2 Xiaoying Chang,2 Yucun Wang,2 Jie Yang,3 Jing Cui2,*1Department of Experimental Surgery, Tangdu Hospital, The Fourth Military Medical University, Xi’an, Shaanxi, 710038 ...
Cui B   +8 more
doaj  

Identification of New Key Genes in Breast Cancer by Co-expression Network Analysis

open access: yes, 2020
Ge Yao   +6 more
core   +1 more source

Enhanced response of T lymphocytes from Pgap3 knockout mouse : Insight into roles of fatty acid remodeling of GPI anchored proteins

open access: yesEnhanced response of T lymphocytes from Pgap3 knockout mouse : Insight into roles of fatty acid remodeling of GPI anchored proteins
openaire   +1 more source

High PGAP3 Expression Is Associated With Lymph Node Metastasis and Low CD8+T Cell in Patients With HER2+ Breast Cancer

Pathology Research and Practice, 2023
Breast cancer (BC) stands as the most prevalent malignancy among women and ranks as the second most frequently diagnosed cancer globally among newly identified cases. Post-GPI attachment to proteins factor 3(PGAP3)was reported to involve in lipid remodeling. However, its specific role in breast cancer remains inadequately elucidated.
Mingyang Li, Qingge Jia, Yuelei Zhao
exaly   +3 more sources

The Novel Circular RNA Circ-PGAP3 Retards Cervical Cancer Growth by Regulating the miR-769-5p/p53 Axis

Human Cell, 2021
Cervical cancer (CC) is still an intractable disease that seriously affects women's health. Elucidating its pathogenesis will bring new targets for clinical treatment. Circular RNA (circRNA) is an endogenous RNA that has recently been reported to be closely related to cancer progression and development.
Hailing Cheng, Qinxue Cao
exaly   +3 more sources

Enhanced Response of T Lymphocytes From Pgap3 Knockout Mouse: Insight Into Roles of Fatty Acid Remodeling of GPI Anchored Proteins

Biochemical and Biophysical Research Communications, 2012
Glycosylphosphatidylinositol (GPI) is a complex glycolipid that serves as a membrane anchor for many cell-surface proteins, such as Thy-1 and CD48. GPI-anchored proteins (GPI-APs) play important roles in many biological processes, such as signal transduction and cell-cell interaction, through their association with lipid rafts. Fatty acid remodeling of
Taroh Kinoshita   +2 more
exaly   +3 more sources

PGAP3‐related hyperphosphatasia with mental retardation syndrome: Report of 10 new patients and a homozygous founder mutation

Clinical Genetics, 2017
BackgroundHyperphosphatasia with mental retardation syndrome (HPMRS) is caused by recessive mutations in genes involved in the glycosylphosphatidylinsitol pathway, including PGAP3.Materials and MethodsWe describe 10 patients from 8 Egyptian families presenting with developmental delay, severe intellectual disability, distinct facial dysmorphism and ...
M.S. Abdel‐Hamid   +5 more
openaire   +2 more sources

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