نتایج جستجو برای: microcephaly

تعداد نتایج: 3104  

Journal: :Current Biology 2014
Véronique Marthiens Renata Basto

Centrosome mutations associated with microcephaly are normally thought to result in loss-of-function phenotypes. A new study shows, however, that mutations found in the human microcephaly STIL gene cause centrosome amplification, suggesting a direct link between the presence of extra centrosomes and the establishment of this disease.

Journal: :American journal of human genetics 2016
Brian N Harding Amanda Moccia Séverine Drunat Omar Soukarieh Hélène Tubeuf Lyn S Chitty Alain Verloes Pierre Gressens Vincent El Ghouzzi Sylvie Joriot Ferdinando Di Cunto Alexandra Martins Sandrine Passemard Stephanie L Bielas

Primary microcephaly is a neurodevelopmental disorder that is caused by a reduction in brain size as a result of defects in the proliferation of neural progenitor cells during development. Mutations in genes encoding proteins that localize to the mitotic spindle and centrosomes have been implicated in the pathogenicity of primary microcephaly. In contrast, the contractile ring and midbody requi...

Journal: :Stem cells and development 2016
Forrest T Goodfellow Blanka Tesla Gregory Simchick Qun Zhao Thomas Hodge Melinda A Brindley Steven L Stice

The explosive spread of the Zika virus (ZIKV) through South and Central America has been linked to an increase in congenital birth defects, specifically microcephaly. Representative rodent models for investigating infections include direct central nervous system (CNS) injections late in pregnancy and transplacental transmission in immunodeficient mice. Microcephaly in humans may be the result o...

2016
Gihan Tennekoon Ganeshwaran H. Mochida Mohan Narayanan Theresa Grebe Matthew Huentelman

Microcephaly is a fairly common feature observed in children with delayed development, defined as head circumference less than 2 standard deviations below the mean for age and gender. It may be the result of an acquired insult to the brain, such prenatal or perinatal brain injury (congenital infection or hypoxic ischemic encephalopathy), or be a part of a genetic syndrome. There are over 1000 c...

2004
Alain Verloes Robert Debré

Key-words Disease name and synonyms Definition/Diagnosis criteria Excluded diseases Differential diagnosis Etiology Clinical description Genetics Diagnostic methods Frequency Genetic counseling Antenatal diagnosis Management including treatment Unresolved questions References Abstract Microcephaly is defined by an occipitofrontal circumference (OFC) below -2 standard deviation (SD) for age and ...

2016
Russell S Kirby

Emerging infectious diseases have challenged existing public health infrastructure and validated its necessity on the front lines of defense. The 2014-15 epidemic of Ebola virus in west Africa occurred in countries with limited capacity of healthcare facilities and providers and almost no population based health surveillance systems. The Zika virus outbreaks have also previously occurred mainly...

Journal: :Pediatric Neurology Briefs 2016

2018
Muneeb A. Faiq Ashutosh Kumar Himanshu N. Singh Vikas Pareek Pavan Kumar

Citation: Faiq MA, Kumar A, Singh HN, Pareek V and Kumar P (2018) Commentary: A Possible Mechanism of Zika Virus Associated Microcephaly: Imperative Role of Retinoic Acid Response Element (RARE) Consensus Sequence Repeats in the Viral Genome. Front. Microbiol. 9:190. doi: 10.3389/fmicb.2018.00190 Commentary: A Possible Mechanism of Zika Virus Associated Microcephaly: Imperative Role of Retinoic...

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