Results 91 to 100 of about 70,338 (285)

Zika virus infection in the returning traveller: what every neurologist should know [PDF]

, 2018
Zika virus has been associated with a wide range of neurological complications. Neurologists in areas without current active transmission of the virus may be confronted with Zika-associated neurological disease, as a large number of returning travellers ...
Brito Ferreira, Maria Lucia, Jacobs, Bart C., Lant, Suzannah, Leonhard, Sonja Emily, Solomon, Tom, Wilder-Smith, Annelies, Willison, Hugh   +6 more
core   +6 more sources

Unveiling a New Link: Cholesterol Deficiency in Smith–Lemli–Opitz and Niemann–Pick C as a Driver of Ciliopathies

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The ciliopathies are a group of genetic disorders caused by defective function of either the primary cilia (a large number) or the motile cilia (a much smaller number). These have been defined as diseases with mutations in genes encoding individual ciliary or cilia‐associated proteins.
Robert P. Erickson, Maria Teresa Fiorenza   +1 more
wiley   +1 more source

ZIKV infection activates the IRE1-XBP1 and ATF6 pathways of unfolded protein response in neural cells. [PDF]

, 2018
BACKGROUND: Many viruses depend on the extensive membranous network of the endoplasmic reticulum (ER) for their translation, replication, and packaging. Certain membrane modifications of the ER can be a trigger for ER stress, as well as the accumulation ...
Fu, Z, Hu, Q, Ke, X, Li, P, Liu, Y, Sun, J, Tan, Z, Wang, H, Zhang, W, Zhang, Y, Zheng, C, Zheng, Z   +11 more
core   +1 more source

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 more
wiley   +1 more source

Available Evidence of Association between Zika Virus and Microcephaly

Chinese Medical Journal, 2016
Objective: To clarify the possible association between the Zika virus (ZIKV) and microcephaly and understand where we are in terms of research and the debate on the causation between mild maternal clinical features and severe fetal microcephaly.
Jing Wu, Da-Yong Huang, Jun-Tao Ma, Ying-Hua Ma, Yi-Fei Hu   +4 more
doaj   +1 more source

Zika virus infection reprograms global transcription of host cells to allow sustained infection. [PDF]

, 2017
Zika virus (ZIKV) is an emerging virus causally linked to neurological disorders, including congenital microcephaly and Guillain-Barré syndrome. There are currently no targeted therapies for ZIKV infection.
Bansal, Vikas, Dang, Jason, Lichinchi, Gianluigi, Qin, Yue, Rana, Tariq M, Tiwari, Shashi Kant   +5 more
core   +2 more sources

Construction of pathogenic Sec16a mutation mouse model using CRISPR/Cas9

Animal Models and Experimental Medicine, EarlyView.
Yaqiang Hu et al. engineered a pathogenic Sec16a mutant mouse model using CRISPR/Cas9 technology. They observed that the Sec16a mutant mice displayed diminished learning and memory capabilities, along with a limb‐clasping phenotype upon tail suspension.
Yaqiang Hu, Zhiyang Zeng, Xinyu Ming, Shuming Yin, Yuting Guan, Liangcai Gao, Dali Li   +6 more
wiley   +1 more source

Zika virus infection in pregnant women in Honduras: study protocol [PDF]

, 2016
Background: Although there is increasing evidence for a relationship between symptomatic Zika virus (ZIKV) maternal infection, and microcephaly, a firm causal relation has yet to be established by epidemiologic studies.
Amanda M. Berrueta, Carolina Bustillo, Concepcion Zuniga, Dawn M. Wesson, Eduardo Bergel, Emily Harville, Fernando Althabe, Jackeline Alger, Karla Rosales, Maria-Luisa Cafferata, null null, Pierre Buekens   +11 more
core   +1 more source

Diverse Genetic Etiologies of Unilateral Polymicrogyria

Annals of Neurology, EarlyView.
Objective Polymicrogyria (PMG) is one of the most common human malformations of cortical development and is often classified by its radiographic pattern of distribution. Unilateral polymicrogyria (uPMG) is a subtype of PMG affecting a portion or all of one cerebral hemisphere.
Abbe Lai, Jennifer E. Neil, Shyam K. Akula, Dina Amrom, Eva Andermann, Ann Bergin, Roberto Caraballo, Allen Y. Chen, John Gaitanis, Ganeshwaran H. Mochida, Jill M. Gotoff, Giorgi Kuchukhidze, Daphna Marom, Christelle Moufawad ElAchkar, Miriam Regev, Lance H. Rodan, Heather Olson, Bo Zhang, Annapurna Poduri, Diane D. Shao, Christopher A. Walsh, Edward Yang   +21 more
wiley   +1 more source

Contribution of rare coding variants to microcephaly in individuals with neurodevelopmental disorders

Genome Medicine
Background Microcephaly, characterized by an abnormally small head size, frequently co-occurs with neurodevelopmental disorders (NDDs). While the genetic basis of NDDs has been widely investigated, the contribution of rare coding variants to microcephaly
Jihoon G. Yoon, Hyunsoo Jang, Seungbok Lee, Se Song Jang, Soojin Park, Jaeso Cho, Minji Kim, Jiye Han, Hyounji Yun, Man Jin Kim, Soo Yeon Kim, Woo Joong Kim, Anna Cho, Jin Sook Lee, Murim Choi, Alberto Fernandez-Jaen, Sebastian Silva, Reinaldo Uribe-San-Martín, Christian Cantillano, Noriko Miyake, Byung Chan Lim, Jung Min Ko, Ki Joong Kim, Ki-Jun Yoon, Jong-Hee Chae   +24 more
doaj   +1 more source