Results 101 to 110 of about 39,998 (271)

Clinical standards and interpretation of gene sequence variants in human Mendelian disorders

Chinese Journal of Contemporary Neurology and Neurosurgery, 2017
DOI: 10.3969/j.issn.1672-6731.2017.07 ...
Bei-sha TANG, Sheng ZENG, Kai LI
doaj  

Correlation between GLA variants and alpha-Galactosidase A profile in dried blood spot: an observational study in Brazilian patients

Orphanet Journal of Rare Diseases, 2020
Background Fabry disease is a rare X-linked inherited disorder caused by deficiency of α-Galactosidase A. Hundreds of mutations and non-coding haplotypes in the GLA gene have been described; however, many are variants of unknown significance, prompting ...
Patrícia Varela, Gianna Mastroianni Kirsztajn, Fabiana L. Motta, Renan P. Martin, Lauro T. Turaça, Henrique L. F. Ferrer, Caio P. Gomes, Priscila Nicolicht, Maryana Mara Marins, Juliana G. Pessoa, Marion C. Braga, Vânia D’Almeida, Ana Maria Martins, João B. Pesquero   +13 more
doaj   +1 more source

TP53BP2 Promotes Placental Autophagy and Preeclampsia via G9a and DNMT1 Cooperatively Modulating E2F1

Advanced Science, EarlyView.
G9a, and DNA Methyltransferase1 (DNMT1) cooperatively modulates E2F1 on the promoter of tumor suppressor p53‐binding protein 2 (TP53BP2) increased autophagy in preeclampsia. TP53BP2 promotes autophagy in trophoblasts through DNA methylation and H3K9me2‐mediated transcriptional regulation.
Nan Jiang, Shaoju Jin, Shaoying Wen, Wen Zeng, Chen Wang, Jingyu Wang, Qingyun Song, Guizhong Li, Pengzhi Yin, Yuhui Liao, Yuee Chai, Huiping Zhang, Shengchao Ma   +12 more
wiley   +1 more source

Strategies and problems of genetic diagnosis for neurogenetic diseases

Chinese Journal of Contemporary Neurology and Neurosurgery, 2017
Neurogenetic diseases are difficult to diagnose due to complicated phenotypes. Genetic testing is always the option for final diagnosis. With the progress and update of molecular diagnostic techniques, especially widely usage of next - generation ...
Xun-hua LI, Ding-bang CHEN, Chao WU
doaj  

Hypoxia as a therapy for mitochondrial disease [PDF]

, 2016
Defects in the mitochondrial respiratory chain (RC) underlie a spectrum of human conditions, ranging from devastating inborn errors of metabolism to aging.
Alexa, K., Dhillon, H., Goessling, W., Goldberger, O., Goli, R., Jain, I. H., Mootha, V. K., Peng, J., Sanjana, Neville E, Schatzman-Bone, S., Shalem, Ophir, Zapol, W. M., Zazzeron, L., Zhang, Feng   +13 more
core   +1 more source

A DNA Tetrahedron Delivery Asiatic Acid to Reprogram Mitochondrial Metabolism for Promoting Bone Regeneration via STAT3 Phosphorylation

Advanced Science, EarlyView.
A hyaluronic acid methacrylate (HAMA) hydrogel incorporating DNA tetrahedrons loaded with Asiatic acid (TDN@AA) was developed. HM‐TDN@AA promotes angiogenesis of endothelial cells (ECs), inhibits osteoclastogenesis from bone marrow–derived macrophages (BMDMs), and enhances osteogenesis of mesenchymal stem cells (MSCs) via STAT3‐mediated mitochondrial ...
Yiwen Huang, Yiming Zhang, Yisheng Feng, Qixiang Yang, Beiyuan Gao, Haiyang Xu, Cheng Huang, Kaili Lin, Yuanzhi Xu, Peiqi Zhu   +9 more
wiley   +1 more source

Cellular Identity Crisis: RD3 Loss Fuels Plasticity and Immune Silence in Progressive Neuroblastoma

Advanced Science, EarlyView.
Researchers discovered that therapy‐induced loss of RD3 protein in neuroblastoma triggers a dangerous shift: cancer cells become more stem‐like, invasive, and resistant to treatment while evading immune detection. RD3 loss suppresses antigen presentation and boosts immune checkpoints, creating an immune‐silent environment.
Poorvi Subramanian, Sreenidhi Mohanvelu, Sheeja Aravindan, Afsana Parveen Jahir Hussain, Sivasubramani Narayanan, Sabir Salim, Loganayaki Periyasamy, Natarajan Aravindan   +7 more
wiley   +1 more source

Respuesta inmune por anticuerpos en niños de hasta cinco años con enfermedades genéticas

Revista Electrónica Dr. Zoilo E. Marinello Vidaurreta, 2020
Fundamento: la valoración inmunológica forma parte del tratamiento integral a los pacientes con enfermedades genéticas. Las deficiencias de anticuerpos representan las alteraciones inmunológicas más frecuentes.Objetivo: describir la respuesta de ...
Enelis Reyes-Reyes, Nora María Orive-Rodríguez, Lisset del Carmen Romero-Portelles, Maidelina Cardoso-Paredes   +3 more
doaj  

Differential genetic advantages in youth and in aging, or how to die healthy [PDF]

, 2012
Human society ages at a steady rate, that is, the proportion of adult and elderly individuals increases constantly because of improved living conditions and the advances in medical care.
Khalil, Hilal S., Petkova, Rumena, Zhelev, Nikolai   +2 more
core   +3 more sources

Endothelial PDGF Signaling Dysregulation Impairs Testicular Interstitial Homeostasis in Diabetes

Advanced Science, EarlyView.
Testicular endothelial cells (TECs) function as central signaling hubs that coordinate interstitial homeostasis. Diabetes disrupts TEC‐derived PDGF signaling, silences the JUND‐MCL1 survival program in Leydig cells, and impairs peritubular function, leading to fibrosis and testosterone insufficiency.
Wenxiu Zhang, Kai Hong, Yanling Tang, Lina Cui, Xiaojian Lu, Jianxing Cheng, Yangyi Fang, Qiaoling Jiang, Ziyan Zhuang, Songzhan Gao, Hui Jiang, Qiang Liu, Jingtao Guo, Zhe Zhang, Xiaoyan Wang   +14 more
wiley   +1 more source