Results 51 to 60 of about 38,348 (306)

Pituitary hypoplasia and growth hormone deficiency in a woman with glycogen storage disease type Ia: a case report

Journal of Medical Case Reports, 2008
Introduction Growth retardation is one of the cardinal manifestations of glycogen storage disease type Ia. It is unclear which component of the growth hormone and/or insulin-like growth factor axis is primarily disrupted, and management of growth ...
Dagdelen Selcuk, Atmaca Aysegul, Alikasifoglu Ayfer, Erbas Tomris   +3 more
doaj   +1 more source

Novel Vascularized Human Liver Organoids for Modeling Alcohol‐Induced Liver Injury and Developing Hepatoprotective Therapy

Advanced Science, EarlyView.
This study successfully engineered vascularized liver organoids (3HLOs) by co‐culturing human reprogrammed hepatocyte‐like cells (hrHLs) with human umbilical vein endothelial cells (HUVECs) and human umbilical mesenchymal stem cells (HUMSCs). Upon implantation, the 3HLOs established functional vascular anastomosis with the host circulation and ...
Kangdi Yang, Xiayan Chu, Xuerui Wang, Wenkun Zhang, Jinnuo Lu, Chuting Xu, Shoucheng Hu, Guoyu Pan, Chih‐Tsung Yang, Xiaohui Zhang, Shaojin Li, Zhaobin Guo, Hanyang Liu, Guangbo Ge   +13 more
wiley   +1 more source

Mutation analysis of in a patient with glycogen storage disease-type Ib

Journal of International Medical Research, 2019
Objective The aim of the study was to investigate the relationship between SLC37A4 gene mutation and clinical phenotype in a patient with glycogen storage disease-type I.
Yamei Zhang, Huihui Sun, Naijun Wan
doaj   +1 more source

GYS1 or PPP1R3C deficiency rescues murine adult polyglucosan body disease

Annals of Clinical and Translational Neurology, 2020
Objective Adult polyglucosan body disease (APBD) is an adult‐onset neurological variant of glycogen storage disease type IV. APBD is caused by recessive mutations in the glycogen branching enzyme gene, and the consequent accumulation of poorly branched ...
Erin E. Chown, Peixiang Wang, Xiaochu Zhao, Justin J. Crowder, Jordan W. Strober, Mitchell A. Sullivan, Yunlin Xue, Cody S. Bennett, Ami M. Perri, Bret M. Evers, Peter J. Roach, Anna A. Depaoli‐Roach, H. Orhan Akman, Bartholomew A. Pederson, Berge A. Minassian   +14 more
doaj   +1 more source

Unraveling the Morphological and Functional Maturation Mechanisms Underlying Human Neural Development Using iPSCs‐Derived Neuronal Model

Advanced Science, EarlyView.
Using human induced pluripotent stem cells (hiPSCs)‐derived neuronal model, Tian and colleagues reveal that voltage‐gated calcium channels Cav1.2 and Cav1.3, and their mediated calcium ion influx, are essential for early morphogenesis of human neuronal development, while ECEL1 underlies human neuronal functional developmental maturation through CALM3 ...
Yue Tian, Yi‐Chun Ou, Zi‐Xian Zhang, Jie Cai, Si‐Qing Cai, Guo‐Gang Xing   +5 more
wiley   +1 more source

Isolated glycogen storage disease of the heart

Российский кардиологический журнал, 2019
Isolated glycogen storage disease of the heart (PRKAG2 syndrome) is a form of glycogenosis, which is characterized by left ventricular hypertrophy, similar to the phenotype of hypertrophic cardiomyopathy, associated with pre-excitation of the ventricles ...
S. M. Komissarova, N. M. Rineiskaya, N. N. Chakova, S. S. Niyazova, L. I. Plashchinskaya   +4 more
doaj   +1 more source

EIF5A Couples Translational Control With Transcriptional Reprogramming Through Chromocenter Reorganization During Spermiogenesis

Advanced Science, EarlyView.
The translation factor Eukaryotic translation initiation factor 5A (eIF5A) is essential for male fertility in mice. It supports the translation of proteins crucial for heterochromatin organization and acrosome formation. eIF5A deficiency disrupts chromocenter integrity, increases chromatin accessibility, and causes transcriptional dysregulation ...
Yuling Cai, Tongtong Li, Qian Fang, Ziyou Bao, Feng Kong, Huitao Qi, Hanzhen Li, Mingyu Zhang, Wei Wang, Yongxia Guan, Wenbo Liu, Xiangfeng Chen, Zi‐Jiang Chen, Xiaohua Jiang, Xin Wang, Hongbin Liu   +15 more
wiley   +1 more source

Pan2‐Pan3 Complex‐Mediated Deadenylation Enforces mRNA Quality Control for Infection of the Rice Blast Fungus

Advanced Science, EarlyView.
Discovery that deadenylation, rather than transcription, acts as the rate‐limiting step for developmental timing in a plant pathogen. Evidence that P‐body integrity and mRNA decay are mechanistically coupled to rapid cellular differentiation under environmental stress. Identification of Pan2‐Pan3 as a pathogen‐specific “meta‐virulence factor” absent in
Ziwei Lv, Junting Feng, Shenxian Zhou, Zhiguang Qu, Jun Peng, Xiao‐Lin Chen, Deng Chen   +6 more
wiley   +1 more source

History of glycogen storage disease type Ⅱ

Chinese Journal of Contemporary Neurology and Neurosurgery, 2018
Glycogen storage disease type Ⅱ (GSD Ⅱ), which is also called Pompe disease, is an autosomal recessive hereditary metabolic disease resulting from mutations of acid α-glucosidase (GAA).
Cheng ZHANG, Liang WANG
doaj   +1 more source

Remote Activation of Spinal TRPV1 by Magnetic Nanocubes Confers Cardioprotection Against Myocardial Ischemia‐Reperfusion Injury

Advanced Science, EarlyView.
Fe‐based magnetic nanocubes conjugated with TRPV1 antibodies (FeNCs‐TRPV1) are developed for the specific targeting of TRPV1 channels. Intraspinally injected FeNCs‐TRPV1 induces TRPV1 desensitization in rats exposed to repetitive and transient ACMF.
Xueying Cheng, Shuangyu Liu, Yu Zhang, Kang Peng, Muge Qile, Chao Wu, Mengyun Dou, Liu Liu, Na Yang, Rui Liu, Guiyang Zhang, Liangping Ni, Gaolin Liang, Fang Yang, Ye Zhang, Shufang He   +15 more
wiley   +1 more source