Results 41 to 50 of about 78,400 (304)

A novel compound heterozygous of β-thalassemia with HbG-Coushatta: case report of Iran

Human Genome Variation, 2023
A 30-year-old male couple from Ardabil city, Iran, were admitted for premarital screening. An abnormal band in HbS/D regions with high levels of HbF and HbA 2 led us to suspect the possibility of a compound heterozygous state of β-thalassemia in our ...
Narges Soozangar, Ehsan Abbaspour, Haleh Mokaber, Zahra Nematollahi, Behzad Davarnia   +4 more
doaj   +1 more source

Lilrb4a Suppression Reprograms Microglia to Mitigate APOE4‐Associated Amyloid Plaques and Cerebral Amyloid Angiopathy in Association With a PPAR‐Linked Pro‐Clearance State

Advanced Science, EarlyView.
Targeting Lilrb4a in Apolipoprotein E4 (APOE4)‐associated Alzheimer's disease (AD) reprograms microglia toward a beneficial, phagocytic state. Genetic deletion or antisense inhibition of Lilrb4a suppresses p‐SHP2/NF‐κB/STAT1 signaling, restores PPAR‐linked lipid and energy metabolism, and reduces amyloid plaque burden and cerebral amyloid angiopathy ...
Changxu Nie, Ruixi Yang, Xiaotong Wang, Ping Jia, Xueqi Zhang, Yaqi Dai, Xue Bai, Sijia Duan, Yufeng Li, Peng Zheng, Xin Tian, Li Jiang, Chao Wang   +12 more
wiley   +1 more source

Hyperhomocysteinemia complicated with developmental epileptic encephalopathy caused by compound heterozygous mutations of MTHFR gene: one case report and literature review

Chinese Journal of Contemporary Neurology and Neurosurgery
Objective To investigate the clinical correlation between hyperhomocysteinemia caused by MTHFR gene mutation and developmental epileptic encephalopathy (DEE), as well as the corresponding intervention strategies.
DU Ya-kun, WANG Li-hui, LI Yan, CHEN Fang, DONG Lei, SUN Su-zhen   +5 more
doaj   +1 more source

Novel Mutations in the GTPBP3 Gene for Mitochondrial Disease and Characteristics of Related Phenotypic Spectrum: The First Three Cases From China

Frontiers in Genetics, 2021
Combined Oxidative Phosphorylation Deficiency 23 (COXPD23) caused by mutations in GTPBP3 gene is a rare mitochondrial disease, and this disorder identified from the Chinese population has not been described thus far.
Hui-ming Yan, Hui-ming Yan, Hui-ming Yan, Zhi-mei Liu, Bei Cao, Victor Wei Zhang, Victor Wei Zhang, Yi-duo He, Zheng-jun Jia, Zheng-jun Jia, Zheng-jun Jia, Hui Xi, Hui Xi, Hui Xi, Jing Liu, Jing Liu, Jing Liu, Fang Fang, Hua Wang, Hua Wang, Hua Wang   +20 more
doaj   +1 more source

A High‐Throughput Live Imaging Platform to Investigate Circuit‐Dependent Regulation of Circadian Rhythms in Brain Tissue

Advanced Science, EarlyView.
Biological rhythms coordinate physiology, from genes to behavior. Study of circadian rhythms in brain tissue is constrained by limited throughput and spatial and temporal information quality. A new platform for high‐throughput, long‐term multiplexed fluorescent live imaging of circadian rhythms in brain slices is introduced.
Marco Ferrari, Natalie Ness, Julieta Acosta, Marco Brancaccio   +3 more
wiley   +1 more source

A novel heterozygous WFS1 variant of uncertain significance in a patient with early-onset diabetes: a case report

Frontiers in Endocrinology
ObjectiveTo describe the clinical presentation of a patient with early-onset diabetes and to report a novel heterozygous WFS1 variant of uncertain significance (VUS) identified in this case.
Wen Kan, Yunyang Wang, Yu Xue, Xiaoying Zhang, Lili Xu   +4 more
doaj   +1 more source

Genotyping of GATA4 gene variant (g296s) in Malaysian congenital heart disease subjects by real-time PCR high resolution melting analysis [PDF]

Journal of Medical Biochemistry, 2013
Background: Congenital heart disease (CHD) is the most common birth defect; however, the underlying etiology is unrecognized in the majority of cases.
Fawzi Nora, Vasudevan Ramachandran, Ismail Patimah, Alwi Mazeni, Fazli Abdul Aziz Ahmad, Almeamar Hussein, Mohamad Afiqa Nur, Etemad Ali   +7 more
doaj  

Hyperabsorption and retention of campestanol in a sitosterolemic homozygote: comparison with her mother and three control subjects

Journal of Lipid Research, 2000
We measured the percent absorption, turnover, and distribution of campestanol (24-methyl-5α-cholestan-3β-ol) in a sitosterolemic homozygote, her obligate heterozygous mother, and three healthy human control subjects.
Gerald Salen, Guorong Xu, G.S. Tint, A.K. Batta, Sarah Shefer   +4 more
doaj   +1 more source

The Homozygous p.(Arg215Ter) Variant in XRCC2 Is Associated With Atypical Fanconi Anemia Without Major Hematological Abnormalities in Childhood

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Fanconi Anemia (FA) is the most frequent inherited bone marrow failure syndrome. A role for the XRCC2 gene in FA was suspected in 2012 and confirmed in 2016, but only two affected individuals have been described thus far, and no long‐term follow‐up is available.
Sabina Cenciarelli, Giulia Bruna Marchetti, Maria Iascone, Maria Grazia Patricelli, Sara Giangiobbe, Gabriella Cinzia Pozzobon, Miriam Nella Savini, Fabio Giglio, Alessandro Aiuti, Paola Carrera, Francesca Ferrua, Angela Peron   +11 more
wiley   +1 more source

Compound heterozygous mutation in MTHFR gene lead to chronic cerebral venous thrombosis: one case report

Chinese Journal of Contemporary Neurology and Neurosurgery
Objective To report one case of chronic cerebral venous thrombosis (CVT) caused by compound heterozygous mutation in MTHFR gene, and to investigate the association between compound heterozygous mutation in MTHFR gene and chronic CVT as well as its ...
YU Xuan-yue, LIU Ke-xin, FAN Tie-ping, LI Shu-min, LIANG Xin-tian, LIU Yi   +5 more
doaj   +1 more source