Results 91 to 100 of about 8,019,426 (364)

A novel TAB2 nonsense mutation (p.S149X) causing autosomal dominant congenital heart defects: a case report of a Chinese family

BMC Cardiovascular Disorders, 2020
Background TAB2 is an activator of MAP 3 K7/TAK1, which is required for the IL-1 induced signal pathway. Microdeletions encompassing TAB2 have been detected in various patients with congenital heart defects (CHD), indicating that haploinsufficiency of ...
Jia Chen, Huizhen Yuan, Kang Xie, Xinrong Wang, Linglong Tan, Yongyi Zou, Yan Yang, Lu Pan, Junfang Xiao, Ge Chen, Yanqiu Liu   +10 more
doaj   +1 more source

Targeting rapid TKI‐induced AXL upregulation overcomes adaptive ERK reactivation and exerts antileukemic effects in FLT3/ITD acute myeloid leukemia

Molecular Oncology, EarlyView.
Adaptive ERK reactivation hinders FLT3 tyrosine kinase inhibitor (TKI) treatment in FLT3/ITD acute myeloid leukemia. Here, we report that FLT3 TKI treatment rapidly induces AXL expression and upregulation that is temporally associated with the adaptive ERK reactivation.
Tessa S. Seale, Li Li, J. Kyle Bruner, Melody Chou, Bao Nguyen, Jaesung Seo, Ruiqi Zhu, Mark J. Levis, Christine A. Pratilas, Donald Small   +9 more
wiley   +1 more source

Identification of the rs797045105 in the SERAC1 Gene by Whole-exome Sequencing in a Patient Suspicious of MEGDEL Syndrome

Basic and Clinical Neuroscience, 2020
Introduction: Whole Exome Sequencing (WES) has been increasingly utilized in genetic determinants of various inherited diseases. Methods: We applied WES for a patient presenting 3-Methylglutaconic Aciduria (MEG), Deafness (D), Encephalopathy (E), and ...
Mina Zamani, Tahereh Seifi, Jawaher Zeighami, Neda Mazaheri, Emad Jahangirnezhad, Minoo Gholamzadeh, Alireza Sedaghat, Gholamreza Shariati, Hamid Galehdari   +8 more
doaj  

Combined spatially resolved metabolomics and spatial transcriptomics reveal the mechanism of RACK1‐mediated fatty acid synthesis

Molecular Oncology, EarlyView.
The authors analyzed the spatial distributions of gene and metabolite profiles in cervical cancer through spatial transcriptomic and spatially resolved metabolomic techniques. Pivotal genes and metabolites within these cases were then identified and validated.
Lixiu Xu, Jinqiu Li, Junqi Ma, Ayshamgul Hasim   +3 more
wiley   +1 more source

Circulating tumor DNA (ctDNA) trajectories predict survival in trifluridine/tipiracil‐treated metastatic colorectal cancer patients

Molecular Oncology, EarlyView.
The authors applied joint/mixed models that predict mortality of trifluridine/tipiracil‐treated metastatic colorectal cancer patients based on circulating tumor DNA (ctDNA) trajectories. Patients at high risk of death could be spared aggressive therapy with the prospect of a higher quality of life in their remaining lifetime, whereas patients with a ...
Matthias Unseld, Stefan Kühberger, Ricarda Graf, Christine Beichler, Markus Braun, Nadia Dandachi, Ellen Heitzer, Gerald W. Prager   +7 more
wiley   +1 more source

Evaluation of right ventricular function in fetuses with isolated single umbilical artery using spatiotemporal image correlation M-mode

Cardiovascular Ultrasound, 2019
Background Postnatal outcome of fetuses with isolated single umbilical artery (SUA) is determined mainly by right ventricular function. Our study examined whether there are differences in right ventricular function during the gestation period of fetuses ...
Tian-gang Li, Fang Nie, Zhen-dong Li, Yan-fang Wang, Qi Li   +4 more
doaj   +1 more source

Crosstalk between gut microbiota and tumor: tumors could cause gut dysbiosis and metabolic imbalance

Molecular Oncology, EarlyView.
In this research, we analyzed the relationship between gut microbiota and tumor. We discovered that both subcutaneous and metastatic tumors would alter the composition and metabolic function of gut microbiota. Meanwhile, fecal microbiota transplantation also indicated the anti‐tumor role of the gut microbiota, revealing the crosstalk between tumor and ...
Siyuan Zhang, Haimei Wen, Ying Chen, Jingya Ning, Di Hu, Yujiao Dong, Chenyu Yao, Bo Yuan, Shuanying Yang   +8 more
wiley   +1 more source

Rare case of aberrant course of facial nerve traversing above oval window

Radiology Case Reports
This research presents a unique observation of congenital conductive hearing loss linked to an atypical pathway of the facial nerve covering the oval window—a condition first reported by Henner.
Yash Heda, MD Radio-diagnosis, Sarfaraz Shaikh, MD, FRCR   +1 more
doaj  

Standards for the diagnosis and treatment of patients with COPD: a summary of the ATS/ERS position paper

European Respiratory Journal, 2004
The Standards for the Diagnosis and Treatment of Patients with COPD document 2004 updates the position papers on chronic obstructive pulmonary disease (COPD) published by the American Thoracic Society (ATS) and the European Respiratory Society (ERS) in ...
B. Celli, W. Macnee, A. Agustí, A. Anzueto, B. Berg, A. Buist, P. Calverley, N. Chavannes, T. Dillard, Bonnie F. Fahy, A. Fein, J. Heffner, S. Lareau, P. Meek, F. Martinez, W. McNicholas, J. Muris, E. Austegard, R. Pauwels, S. Rennard, A. Rossi, N. Siafakas, B. Tiep, J. Vestbo, E. Wouters, R. Zuwallack   +25 more
semanticscholar   +1 more source

Integrative analysis of circulating tumor cells (CTCs) and exosomes from small‐cell lung cancer (SCLC) patients: a comprehensive approach

Molecular Oncology, EarlyView.
This study simultaneously investigated circulating tumor cells (CTCs) and exosomes from small‐cell lung cancer (SCLC) patients. The elevated expression of JUNB and CXCR4 in CTCs was a poor prognostic factor for SCLC patients, whereas exosomal overexpression of these biomarkers revealed a high discrimination ability of patients from healthy individuals,
Dimitrios Papakonstantinou, Argyro Roumeliotou, Evangelia Pantazaka, Athanasios‐Nasir Shaukat, Athina Christopoulou, Angelos Koutras, Foteinos‐Ioannis Dimitrakopoulos, Vassilis Georgoulias, Anastasia Xagara, Evangelia Chantzara, Fillipos Koinis, Athanasios Kotsakis, Constantinos Stathopoulos, Galatea Kallergi   +13 more
wiley   +1 more source