Results 51 to 60 of about 159,600 (311)

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

Olfaction in Parkin heterozygotes and compound heterozygotes [PDF]

Neurology, 2011
While Parkinson disease (PD) is consistently associated with impaired olfaction, one study reported better olfaction among Parkin mutation carriers than noncarriers. Whether olfaction differs between Parkin mutation heterozygotes and carriers of 2 Parkin mutations (compound heterozygotes) is unknown.To assess the relationship between Parkin genotype ...
R N, Alcalay, A, Siderowf, R, Ottman, E, Caccappolo, H, Mejia-Santana, M-X, Tang, L, Rosado, E, Louis, D, Ruiz, C, Waters, S, Fahn, L, Cote, S, Frucht, B, Ford, M, Orbe-Reilly, B, Ross, M, Verbitsky, S, Kisselev, C, Comella, A, Colcher, D, Jennings, M, Nance, S, Bressman, W K, Scott, C, Tanner, S, Mickel, M, Rezak, K E, Novak, J H, Friedman, R, Pfeiffer, L, Marsh, B, Hiner, L N, Clark, K, Marder   +33 more
openaire   +2 more sources

NARFL Knockout Triggers Ferroptosis‐Driven Vascular Endothelial Dysfunction

Advanced Science, EarlyView.
NARFL is vital for CIA and oxidative stress resistance. NARFL deletion in HPMEC cells, zebrafish, and mice is lethal and rescued by a Ferroptosis inhibitor. NARFL deficiency disrupted its interaction with CIA proteins, decreased aconitase activity, increased IRP1 activity, induced Fe overload, and led to ferroptosis and oxidative stress, resulting in ...
Hui Hu, Jing Luo, Li Yu, Daoxi Qi, Boyu Li, Yating Chen, Chen Wang, Xiaokang Zhang, Wenzheng Guo, Qiyong Lou, Gang Zhai, Yonglin Ruan, Jianfei Huang, Shengchi Shi, Zhan Yin, Fang Zheng   +15 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

Allelic Variation in Maize Malate Dehydrogenase 7 Shapes Promoter Methylation and Banded Leaf and Sheath Blight Resistance

Advanced Science, EarlyView.
In this study maize chloroplastic malate dehydrogenase7 (ZmMDH7), is identified as a Rhizoctonia solani resistance gene in maize. ZmMDH7 is regulated by transcription factor ZmWRKY44 via pathogens challenge to elevate mitochondrial ROS and SA signaling pathway.
Luyang Wei, Junbin Chen, Chuang Liu, DanDan Liu, Meida Du, Shengfeng He, Wenyu Cheng, Vijai Bhadauria, You‐Liang Peng, Wangsheng Zhu   +9 more
wiley   +1 more source

Heterozygosity in NPC may be associated with neurologic and systemic phenotypes

Frontiers in Neurology
BackgroundNiemann-Pick disease type C (NPC) is a pan-ethnic, progressive, recessively inherited lysosomal disorder that affects 1:100,000 live births.
Tatiana Brémovà-Ertl, Sabina Tahirovic, Silva Katušić Hećimović, Kyriakos Martakis, Kyriakos Martakis, Marianne Rohrbach, Matthias Gautschi, Radhika Dhamija, Jaya Ganesh, Melinda Peters, Mark Walterfang, Susanne A. Schneider   +11 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  

Nap1L4a Cooperates with Scl/Klf1 to Recruit H2A.Z in Mediating Interactions Among Cis‐Regulatory Elements and Transcription Required for Primitive Erythropoiesis in Zebrafish

Advanced Science, EarlyView.
Nap1l4a is required in erythropoiesis and hypoxia responses via physical interaction with Klf1 and Scl to recruit the histone variant H2A.Z. This facilitates its associated cis‐regulatory element (CRE) remodeling and the consequent chromatin assembly, and activates the transcription of erythroid lineage‐specific genes.
JiaHao Shi, FuMing Lai, Zheng Shen, XiaoYan Zhang, HanFei Wang, WenYe Liu, YunLong Wang, KuanYu Li, GuoLiang Li, YaPing Fang, Jing‐Xia Liu   +10 more
wiley   +1 more source

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

Red Queen Processes Drive Positive Selection on Major Histocompatibility Complex (MHC) Genes. [PDF]

PLoS Computational Biology, 2015
Major Histocompatibility Complex (MHC) genes code for proteins involved in the incitation of the adaptive immune response in vertebrates, which is achieved through binding oligopeptides (antigens) of pathogenic origin.
Maciej Jan Ejsmond, Jacek Radwan
doaj   +1 more source