Results 41 to 50 of about 81,851 (305)

Result of conventional Gap-PCR method for α⁰-thal--^SEA,--^THAI and--^CR heterozygote DNA samples.

, 2023
M: 100 bp DNA ladder, Lane 1: Normal DNA sample, Lane 2: α0-thal--SEA heterozygote, Lane 3: α0-thal--THAI heterozygote, Lane 4: α0-thal--CR heterozygote. (TIF)
Nutjeera Intasai (88184), Sakorn Pornprasert (12035152), Chedtapak Ruengdit (17343267), Manoo Punyamung (17343270)   +3 more
core   +1 more source

VDAC1 Upregulation Induces Hyperexcitability of Nociceptive Sensory Neurons Via Enhanced Mitochondrial Atp Efflux in Neuropathic Pain

Advanced Science, EarlyView.
The mechanism diagram of VDAC1 mediating neuronal excitability and neuropathic pain. Briefly, VDAC1 is expressed in DRG neurons and is upregulated following CCI‐induced neuropathic pain. This upregulation enhances ATP transport from mitochondria to the cytoplasm in sensory neurons, leading to increased neuronal excitability and pain behavior.
Fengrun Sun, Ning Yu, Liang Yu, Xiaofen Tian, Yujia Ma, Yikuan Xie, Tao Wang, Chao Ma   +7 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

Risk of Inflammatory Bowel Disease Following Hospital‐Treated Infections and Modulatory Role of Host Genetics to Support a Multi‐Hit Pathogenesis Model

Advanced Science, EarlyView.
Hospital‐treated infections are linked to increased risk of inflammatory bowel disease in a large prospective cohort. This risk differs by infection burden, time since infection, and host immune‐genetic susceptibility. The findings support a multi‐hit pathogenesis model in which severe infection and inherited susceptibility jointly shape inflammatory ...
Haiming Zhuang, Lintao Dan, Xin Xiang, Xixian Ruan, Shuai Yuan, Jialu Yao, Jiawei Geng, Jonas F. Ludvigsson, Tian Fu, Candida Abreu, Laurent Peyrin‐Biroulet, Xue Li, Yi Xiao, Fernando Magro, Xiaoyan Wang, Jing Sun, Jie Chen   +16 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  

Genetic characteristics of camels bred in the Atyrau region based on microsatellite DNA analysis [PDF]

Brazilian Journal of Biology
In this article, the level of genetic diversity was assessed, and the degree of heterozygosity was determined for different populations of camels. The studied camel populations are characterized in terms of F-statistics, specifically by the degree of ...
M. Dyussegaliyev, N. Gubashev, K. Bissenov, S. Sagyndykova, A. Abuov   +4 more
doaj   +2 more sources

A Rare De Novo Missense Mutation in IFT122 Confers a Genetic Susceptibility Factor of Idiopathic Pediatric Uveitis Via Trio‐based Whole‐Exome Sequencing

Advanced Science, EarlyView.
A rare de novo IFT122‐A773E variant is identified in idiopathic pediatric uveitis and shown to exacerbate retinal inflammation and barrier dysfunction. Mechanistically, the variant enhances IFT43 interaction, elevates calcium signaling, and activates the MEK/ERK/FRA1 axis, revealing a previously unrecognized cilia‐associated pathway that may increase ...
Qian Zhou, Jiaxing Huang, Yilin Wang, Xingran Li, Xianyang Liu, Lingyu Dai, Hongshun Li, Qingfeng Wang, Jiangyi Liu, Guannan Su, Wanyun Zhang, Yang Deng, Qingfeng Cao, Yujie Lai, Xiang Luo, Changwei Huang, Ling Chen, Shengping Hou, Peizeng Yang   +18 more
wiley   +1 more source

Two rare hemoglobin variants in the Çukurova Region of Turkey: Hb E-Saskatoon and Hb G-Coushatta

Turkish Journal of Hematology, 2011
Hb E-Saskatoon and Hb G-Coushatta are rare hemoglobin variants that are not a health problem. Herein we present a Turkish woman that was diagnosed as homozygous Hb E-Saskatoon (only the second such case reported from Turkey) and a Turkish boy diagnosed ...
Ahmet Genç, Mehmet Akif Çürük
doaj   +3 more sources

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