Results 211 to 220 of about 332,184 (284)

Electroclinical phenotypes—genetic characterization of developmental and epileptic encephalopathies in a cohort study

Epileptic Disorders, EarlyView.
Abstract Objective Developmental and epileptic encephalopathies (DEEs) are characterized by refractory seizures and frequently recurring epileptic activity with neurodevelopmental delay or regression that usually begin in early life. We aimed to define the relationship between electroclinical features and etiology, as well as the genotype–phenotype ...
Burcu Yaman, Fulya Kurekci, Sinan Akbas, Ceyda Oney, Mehmet Akif Kilic, Hulya Maras Genc, Ayca Dilruba Aslanger, Edibe Pembegul Yildiz   +7 more
wiley   +1 more source

Multiple occurrence of psychomotor retardation and recurrent miscarriages in a family with a submicroscopic reciprocal translocation t(7;17)(p22;p13.2). [PDF]

BMC Med Genomics, 2018
Pasińska M, Łazarczyk E, Jułga K, Bartnik-Głaska M, Nowakowska B, Haus O.   +5 more
europepmc   +1 more source

Intestinal microbiome alterations in pediatric epilepsy: Implications for seizures and therapeutic approaches

Epilepsia Open, EarlyView.
Abstract The intestinal microbiome plays a pivotal role in maintaining host health through its involvement in gastrointestinal, immune, and central nervous system (CNS) functions. Recent evidence underscores the bidirectional communication between the microbiota, the gut, and the brain and the impact of this axis on neurological diseases, including ...
Teresa Ravizza, Greta Volpedo, Antonella Riva, Pasquale Striano, Annamaria Vezzani   +4 more
wiley   +1 more source

Mapping allele with resolved carrier status of Robertsonian and reciprocal translocation in human preimplantation embryos. [PDF]

Proc Natl Acad Sci U S A, 2017
Xu J, Zhang Z, Niu W, Yang Q, Yao G, Shi S, Jin H, Song W, Chen L, Zhang X, Guo Y, Su Y, Hu L, Zhai J, Zhang Y, Dong F, Gao Y, Li W, Bo S, Hu M, Ren J, Huang L, Lu S, Xie XS, Sun Y.   +24 more
europepmc   +1 more source

The gut microbiome and drug‐resistant epilepsy: Microbiome–antiseizure medication interactions and implications for pharmacoresistance

Epilepsia Open, EarlyView.
Abstract Drug‐resistant epilepsy (DRE) affects approximately one‐third of patients with epilepsy and represents a major unmet clinical need. While traditional hypotheses of pharmacoresistance have focused on alterations in drug targets, efflux transporter overexpression, and intrinsic disease severity, the gut microbiome has recently emerged as a ...
Khaled Zammar, Majd A. AbuAlrob, Musab Ali, Simona Lattanzi, Boulenouar Mesraoua   +4 more
wiley   +1 more source

A foetus with 18p11.32-q21.2 duplication and Xp22.33-p11.1 deletion derived from a maternal reciprocal translocation t(X;18)(q13;q21.3). [PDF]

Mol Cytogenet, 2018
Chen JK, Liu P, Hu LQ, Xie Q, Huang QF, Liu HL.   +5 more
europepmc   +1 more source

Human biomarker navigator

iMeta, EarlyView.
The Human Biomarker Navigator integrates the disease continuum, biomarker dynamics, cross‐organ biomarker networks, biomarker classification, and technology‐driven paradigms. It maps how biomarkers link multi‐system physiology and pathology across the nervous, respiratory, endocrine, circulatory, immune, digestive, urinary, reproductive, and ...
Meng‐Yao Li, Qian Zhang, Zijie Wang, Zeping Gui, Jing Liu, Jingda Li, Maojun Jiang, Zukang Chang, Qingqing Han, Bendong Yang, Tariq Saeed, Jun Li, Jinghan Jia, Chenghu Song, Tong Shao, Tianhuan Peng, Xueying Zhang, Pingping Guo, Jun Luo, Gangao Yang, Yuan Wan, Gokhan Zengin, Quan Yuan, Lingru Li, Xiaohui Fan, Yang Luo, Lvyun Zhu, Yanfei Zheng, Wenjun Mao, Wenlong Sun   +29 more
wiley   +1 more source

Testing for Local Adaptation to Spawning Habitat in Sympatric Subpopulations of Pike by Reciprocal Translocation of Embryos. [PDF]

PLoS One, 2016
Berggren H, Nordahl O, Tibblin P, Larsson P, Forsman A.   +4 more
europepmc   +1 more source

Decoding sequence recognition code of nucleic acid‐binding proteins of human‐infecting DNA viruses

iMeta, EarlyView.
Human‐infecting DNA viruses remain major health threats, yet the DNA‐recognition mechanisms of their nucleic acid‐binding proteins (NBPs) are poorly understood. Here, we systematically profiled 103 viral NBPs from human‐infecting DNA viruses, with three NBPs from non‐human‐infecting DNA viruses as controls, using high‐throughput screening.
Meifang Tang, Shifei Yang, Haiqian Ma, Ruoying Guo, Jie Chen, Hui Zhang, Jinghan Zhang, Wei Sun, Yun Wei, Ligang Fan, Jian Yan   +10 more
wiley   +1 more source