Results 41 to 50 of about 113,813 (285)

Poor Outcome in a Mitochondrial Neurogastrointestinal Encephalomyopathy Patient with a Novel TYMP Mutation: The Need for Early Diagnosis. [PDF]

, 2012
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a devastating autosomal recessive disorder due to mutations in TYMP, which cause loss of function of thymidine phosphorylase (TP), nucleoside accumulation in plasma and tissues and ...
Bax, BE, Bereczki, C, Buono, R, Filosto, M, Padovani, A, Russignan, A, Scarpelli, M, Tonin, P, Zappini, F, Zombor, M   +9 more
core   +3 more sources

Visual Recovery Reflects Cortical MeCP2 Sensitivity in Rett Syndrome

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Rett syndrome (RTT) is a devastating neurodevelopmental disorder with developmental regression affecting motor, sensory, and cognitive functions. Sensory disruptions contribute to the complex behavioral and cognitive difficulties and represent an important target for therapeutic interventions.
Alex Joseph Simon, Nathalie Picard, Valeria d'Andrea, Enchi Chang, Joseph Leffler, Eleonora Centofante, Matthew Taylor, Francesca Bardi, Francesca Cavicchiolo, Takao K. Hensch, Stefano Panzeri, Chinfei Chen, Michela Fagiolini   +12 more
wiley   +1 more source

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

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

A small population of hypothalamic neurons govern fertility: the critical role of VAX1 in GnRH neuron development and fertility maintenance. [PDF]

, 2016
Fertility depends on the correct maturation and function of approximately 800 gonadotropin-releasing hormone (GnRH) neurons in the brain. GnRH neurons are at the apex of the hypothalamic-pituitary-gonadal axis that regulates fertility. In adulthood, GnRH
Hoffmann, Hanne M, Mellon, Pamela L
core   +1 more source

Microglial GPR35 Ameliorates Epileptogenesis and Neuroinflammation via PDGFA Domain 2 Signaling

Advanced Science, EarlyView.
Activation of microglial G protein–coupled receptor 35 (GPR35) by L‐kynurenic acid (L‐Kyna) initiates a platelet‐derived growth factor A (PDGFA)–dependent phosphoinositide 3‐kinase–protein kinase B (PI3K–AKT) signaling cascade that dampens hippocampal neuroinflammation, thereby restraining epileptogenesis, lowering seizure susceptibility, and ...
Qi Wang, Tingting Qu, Qibing Sun, Ran Li, Junfei Dong, Yuming Du, Ziyin Xuan, Lei Wang, Hanli Li, Jianyun Sun, Fangliang Chen, Jinshuai Liu, Zifan Yang, Jianxiang Lei, Qian Yang, Bin Wang, Zhiming Zhou, Yu Wang   +17 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

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

Pan‐3D Genome Analysis Reveals the Roles of Structural Variation in Chicken Chromatin Architectures, Domestication and Production Traits

Advanced Science, EarlyView.
This study firstly presents a comprehensive and high‐resolution pan‐3D genome resource in chicken. Our findings reveal the role of structural variations in 3D genome architectures, and how they influence the domestication process and production traits at the 3D genome level.
Zhen Zhou, Danfeng Cai, Changbin Zhao, Siyu Zhang, Jiahao Li, Zhaofeng Zhang, Shaofen Kong, Xin Yang, Xiaoli Zhou, Farhad Bordbar, Fayi Chen, Yaohuan Xu, Zhe Zhang, Lihong Gu, Zhenhui Li, Xiquan Zhang, Wen Luo, Jingting Shu, Bolin Cai, Qinghua Nie   +19 more
wiley   +1 more source