Results 111 to 120 of about 67,545 (327)

Infectious causes of microcephaly: epidemiology, pathogenesis, diagnosis, and management. [PDF]

, 2017
Microcephaly is an important sign of neurological malformation and a predictor of future disability. The 2015-16 outbreak of Zika virus and congenital Zika infection brought the world's attention to links between Zika infection and microcephaly. However,
Abdel Razek, Adams Waldorf, Alanen, Alanen, Alasdair Bamford, Andrew J Copp, Ashwal, Aubry, Barefoot, Barkovich, Best, Bharucha, Brasil, Braun, Britt, Britto, Buchman, Calvet, Cannon, Capobiango, Cauchemez, Cheeran, Chen, Chenn, Coelho, Cooper, Cortina-Borja, Cugola, D'Aiuto, Daffos, Dang, Dard, Delan Devakumar, Dolk, Dollard, Dreher, Driggers, Duffy, Feldman, França, Garcez, Givens, Graham, Groce, Hamel, Heinonen, Holt, Hu, Hughes, Hutto, Ibrahim Abubakar, Johansson, Johnson, Jonathan Broad, Jones, Judith Breuer, Kenneson, Khamduang, Kimberlin, Kimberlin, Kimberlin, Kimberlin, Kimberlin, Klein, Krauss, Lafaille, Lancaster, Laura C Rodrigues, Lazar, Lazzarotto, Lee, Leruez-Ville, Leviton, Li, Li, Lipitz, Looker, Looker, Luo, Manicklal, Marcelo U Ferreira, Marly A Cardoso, Marquez, Marthiens, McAuley, McLeod, Melo, Mendelson, Miller, Mitra, Mlakar, Montoya, Moore, Morris, Nguyen, Nora Groce, Nowakowski, Noyola, O'Rahilly, Odeberg, Oliveira Melo, Onorati, Ornoy, Palmer, Pandolfi, Pass, Passemard, Paula Alexandre, Petersen, Petersen, Picone, Pillai, Pinninti, Plotkin, Qian, Reef, Reynolds, Richard E Rosch, Rolland, Rorke, Rorman, Sabin, Sahara, Schoenfisch, Schuler-Faccini, Seo, Shah, Sheevani, Silasi, Szabó, Tang, Tenter, Thiebaut, Tondury, Torgerson, Ventura, Victora, Villar, von der Hagen, Vynnycky, Waddell, Webster, Wells, Wikan, Woods, Woods, Wu, Yamin   +147 more
core   +2 more sources

PLK4: Master Regulator of Centriole Duplication and Its Therapeutic Potential

Cytoskeleton, EarlyView.
ABSTRACT Centrosomes catalyze the assembly of a microtubule‐based bipolar spindle, essential for the precise chromosome segregation during cell division. At the center of this process lies Polo‐Like Kinase 4 (PLK4), the master regulator that controls the duplication of the centriolar core to ensure the correct balance of two centrosomes per dividing ...
Muhammad Hamzah, Franz Meitinger, Midori Ohta   +2 more
wiley   +1 more source

Microcephaly [PDF]

Current Biology, 2014
Woods, C.G., Basto, R.
openaire   +2 more sources

Zika and the Risk of Microcephaly

New England Journal of Medicine, 2016
(Abstracted from N Engl J Med 2016;375:1–4) During an outbreak in 2013–2014, the rate of Zika virus (ZIKV) infection in the Polynesian population was estimated at a rate of 66%, and it was estimated that it posed a risk of microcephaly in the first trimester of pregnancy of 0.95% (95% confidence interval [CI], 0.34%–1.91%).
Luis Mier-y-Teran-Romero, Jennita Reefhuis, Michael A. Johansson, Susan L. Hills, Suzanne M. Gilboa   +4 more
openaire   +3 more sources

Dissecting the Structural Organization, Recruitment and Activation Mechanisms of Centrosomal γ‐TuRCs

Cytoskeleton, EarlyView.
ABSTRACT Visualizing human centrosomes using cryo‐electron tomography revealed the native structure and molecular organization of γ‐tubulin ring complexes (γ‐TuRCs). γ‐TuRCs localized to two distinct centrosomal pools, one in the pericentriolar material (PCM) and another in the centriole lumen, which is released during mitosis.
Florian W. Hofer, Martin Würtz, Qi Gao, Bram J. A. Vermeulen, Elmar Schiebel, Stefan Pfeffer   +5 more
wiley   +1 more source

LZTS2 Negatively Regulates Centrosomal CEP135 Levels and Microtubule Nucleation

Cytoskeleton, EarlyView.
ABSTRACT The microtubule cytoskeleton is a fundamental functional component of the cell. In vertebrate proliferating cells, centrosomes are the primary microtubule organizing center (MTOC), and their dysregulation has been linked to genomic instability and cancer.
Catarina Peneda, Joana N. Bugalhao, Marco Antonio Dias Louro, Andreia Henriques‐Soares, Monica Bettencourt‐Dias   +4 more
wiley   +1 more source

Symptom Onset in Classic Rett Syndrome: Analysis of Initial Clinical Severity Scale Entries

Annals of the Child Neurology Society, EarlyView.
ABSTRACT Objective We aim to assess the clinical features of Rett syndrome (RTT) at registration into the National Institutes of Health–sponsored natural history study (NHS) using the Clinical Severity Scale (CSS). Introduction The CSS was established in 2000 to assess characteristics of individuals with RTT and related disorders.
Alan K. Percy, Jeffrey L. Neul, Amitha Ananth, Timothy A. Benke, Eric D. Marsh   +4 more
wiley   +1 more source

Loss-of-function mutations in Lysyl-tRNA synthetase cause various leukoencephalopathy phenotypes [PDF]

, 2019
Objective: To expand the clinical spectrum of lysyl-tRNA synthetase (KARS) gene–related diseases, which so far includes Charcot-Marie-Tooth disease, congenital visual impairment and microcephaly, and nonsyndromic hearing impairment.
Antonellis, Anthony, Donaldson, Kevin, Emrick, Lisa, Gao, Mingshi, Hou, Ya-Ming, Jiang, Yanjun, Lalani, Seema R., Landsverk, Megan L., Lee, Sansan, Lewis, Andrea M., Li, Meixia, Li, Yuxin, Lin, Jie, Lu, Jiahong, Luo, Sushan, Magoulas, Pilar L., Mei, Hui, Niu, Zhiyv, Oprescu, Stephanie N., Person, Richard E., Rosenfeld, Jill A., Slavin, Thomas P., Song, Jie, Sun, Chong, Walkiewicz, Magdalena, Wang, Yin, Xi, Jianying, Yang, Yaping, Zhang, Victor W., Zhao, Chongbo   +29 more
core   +1 more source

Microcephaly with Extensive Calcium Deposits and Demyelination [PDF]

, 1954
George A. Jervis
openalex   +1 more source

Effects of the Missense Variants on Complete Phenotype and Splicing Variant on Severe Growth Retardation in the BPTF Gene. [PDF]

Dev Neurobiol
ABSTRACT Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies (NEDDFL, OMIM no #617755) is an ultra‐rare syndrome associated with heterozygous pathogenic variants in the BPTF gene. Haploinsufficiency of the BPTF gene, a chromatin remodeling gene that is related to epigenetic modification, is the cause of this disease.
Ünsel-Bolat G, Gerik-Celebi HB, Durgut BD, Türkyılmaz A, Bolat H.   +4 more
europepmc   +2 more sources