Results 91 to 100 of about 309,185 (347)

Tripartite motif-containing 14 (TRIM14) promotes epithelial-mesenchymal transition via ZEB2 in glioblastoma cells

Journal of Experimental & Clinical Cancer Research, 2019
Background Several members of the tripartite motif-containing (TRIM) protein family have been reported to serve as vital regulators of tumorigenesis. Recent studies have demonstrated an oncogenic role of TRIM 14 in multiple human cancers; however, the ...
Shuang Feng, Xiaomin Cai, Yangyang Li, Xiaoguang Jian, Linxin Zhang, Bin Li   +5 more
doaj   +1 more source

Tau Amyloid Corona‐Shelled Nanoparticle‐Based Drug Screening Platform for Discovering Tau Oligomer‐Degrading Drugs

Aggregate, EarlyView.
Tau amyloid corona‐shelled nanoparticles (TACONs) were synthesized by incubating gold nanoparticles (AuNPs) with tau monomers that had been pre‐reacted with heparin. These TACONs represent a promising high‐throughput screening platform for identifying tau oligomer degraders as potential therapeutic agents for Alzheimer's disease.
Hyo Gi Jung, Dongsung Park, Junho Bang, Yeon Ho Kim, Jae Won Jang, Yonghwan Kim, Hyunji Kim, Seungmin Lee, Wonbin Moon, Kyo Seon Hwang, Jeong Hoon Lee, Dongtak Lee, Dae Sung Yoon   +12 more
wiley   +1 more source

Narsoplimab Results in Excellent Survival in Adults and Children With Hematopoietic Cell Transplant Associated Thrombotic Microangiopathy (TA‐TMA)

American Journal of Hematology, EarlyView.
ABSTRACT Inappropriate complement activation is a key driver of hematopoietic cell transplant‐associated thrombotic microangiopathy (TA‐TMA). Treatment with narsoplimab, an inhibitor of MASP‐2, the effector enzyme of the lectin pathway, resulted in a response rate of 61% in a Phase 2 clinical trial in adults with TA‐TMA.
Michelle L. Schoettler, Sunil Kumar Pusarla, Narinder Nangia, Miguel‐Angel Perales, Rafael F. Duarte, Andreas Grauer, Alessandro Rambaldi   +6 more
wiley   +1 more source

AP2M1 Is a Candidate Gene for Microcephaly and Intellectual Disability in 3q27.1 Deletions

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Deletions of the 3q26.33q27.2 region appear to correlate with a distinct phenotype, although there are few reported cases. Here, we present seven previously unreported individuals carrying de novo 3q27 deletions (under 5 Mb), which include the AP2M1 (adaptor‐related protein complex 2, mu‐1 subunit) gene and summarize data from 12 previously ...
Russell Gear, Paul Kalitsis, Melissa Glass, Bertrand Isidor, Catherine Vincent‐Delorme, Florence Petit, Judith M. A. Verhagen, Alexander Jorge, Ana Cristina Victorino Krepischi, Ikeoluwa Osei‐Owusu, Eva Martinez, Anne O'Donnell‐Luria, Nicole de Leeuw, Sarah Ruggiero, Ingo Helbig, Francis David I, Natasha J. Brown   +16 more
wiley   +1 more source

Traditional Chinese Medicine and Ferroptosis in Intracerebral Hemorrhage: A Potential Therapeutic Approach

Drug Design, Development and Therapy
Hanying Xu,1,* Jing Lu,2,* Xiaolei Tang,2 Pengfei Li,3 Lei Wu,4 Jian Wang,1 Ying Zhang,1 Dongmei Zhang5 1Department of Encephalopathy, the Affiliated Hospital of Changchun University of Chinese Medicine, Changchun, Jilin, People’s ...
Xu H, Lu J, Tang X, Li P, Wu L, Wang J, Zhang Y, Zhang D   +7 more
doaj  

An International ASXL3 Natural History Study: Deep Phenotypic Analyses Including Detailed Reports of a Milder Phenotype, Novel Associations, and Clinical Recommendations

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Natural History Studies can help inform clinician and caregiver expectations, form the basis of management guidelines, and provide a comparator for therapeutic intervention. In rare conditions, where collection of prospective longitudinal data is untimely and impractical, quasi‐natural history data—from multiple individuals of different ages ...
E. Woods, N. Holmes, A. S. Denommé‐Pichon, M. Vincent, N. Belova, C. Gooch, B. Isidor, C. W. Ockeloen, E. Pavlidou, H. Stewart, V. J. M. Verhoeven, A. Ververi, A. Dixit, A. Sarkar, R. Legg, E. Reid, M. Balasubramanian   +16 more
wiley   +1 more source

CLCN4‐Related Neurodevelopmental Condition: Characterization of Speech and Language Abilities

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Speech and language difficulties are a core feature of the CLCN4‐related neurodevelopmental condition, but these have not been well described. Here we systematically phenotype speech and language in 13 participants (10 female, aged 1 year 10 months–41 years 10 months) with pathogenic CLCN4 variants (12 missense de novo, 1 premature stop codon ...
Alexandra Garrett, Vera M. Kalscheuer, Rebeca Ridings Figueroa, Elizabeth E. Palmer, Angela T. Morgan   +4 more
wiley   +1 more source

Neonatal Encephalopathy: Need for Recognition of Multiple Etiologies for Optimal Management

Frontiers in Pediatrics, 2019
Neonatal encephalopathy (NE) is associated with high mortality and morbidity. Factors predisposing to NE can be antenatal, perinatal, or a combination of both.
S. Aslam, T. Strickland, E. Molloy
semanticscholar   +1 more source

Identification of a Second‐Hit Brain Somatic DEPDC5 Variant Supports Causality of a DEPDC5 Germline Variant of Uncertain Significance. Time for a Classification Update?

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Germline variants in DEPDC5 are a cause of familial focal epilepsy with variable foci. Affected individuals may have focal cortical dysplasia if a second brain somatic variant occurs. As access to brain tissue is limited, the second somatic hit in the brain is usually presumed if a clear pathogenic germline variant is present. Here, we present
Ala'a Alsayed, Zainab Hakim, Daria Merrikh, Maryam Khanbabaei, Navprabhjot Kaur, Walter Hader, Tyler Soule, Setareh Ashtiani, Grace Polanco‐Tovar, Morris Scantlebury, Hamed Rahi, Yang Cao, Jennifer A. Chan, Juan P. Appendino, Gerald Pfeffer, Ping Yee Billie Au, Karl Martin Klein   +16 more
wiley   +1 more source

Inhibition of type I interferon signaling abrogates early Mycobacterium bovis infection

BMC Infectious Diseases, 2019
Background Mycobacterium bovis (M. bovis) is the principal causative agent of bovine tuberculosis; however, it may also cause serious infection in human being.
Jie Wang, Tariq Hussain, Kai Zhang, Yi Liao, Jiao Yao, Yinjuan Song, Naveed Sabir, Guangyu Cheng, Haodi Dong, Miaoxuan Li, Jiamin Ni, Mazhar Hussain Mangi, Deming Zhao, Xiangmei Zhou   +13 more
doaj   +1 more source