Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
Results
Showing 1 to 20 of 44 for “"Microcephaly"”.
-
Investigation of miRNAs Expression in a Citron-Kinase Mutant Model of Microcephaly
… generated in the CNS and results in a primary microcephaly-like phenotype. Evidence from drosophila genetics has further established a genetic link between Cit-K and a protein Argonaut 1 (AGO1), which is required for proper functioning of the miRNA machinery (2). Experiments characterizing the …
-
The evolution of neuronal progenitor cell division in mammals: The role of the abnormal spindle-like microcephaly associated (Aspm) protein and epithelial cell polarity
… role of the Aspm (abnormal spindle-like microcephaly associated) protein in regulating brain size was investigated. Specifically, Aspm function in symmetric, proliferative divisions of neuroepithelial (NE) cells was analyzed. It was found that Aspm expression in the mouse neuroepithelium …
-
Crescimento e neurodesenvolvimento de crianças com a Síndrome da Zika Congênita (Salvador - Bahia)
… (42 children wtih CZS, out of 22 cases of microcephaly), borned at a hospital in Salvador - Bahia, during ZIKV outbreak. In addition, based on a cross-section study, it was assessed the predictive factors associated with risk of neurodevelopmental abnormalities among CZS cases. Results: …
-
Effects of prolonged mitosis on neural stem cells in vivo during development
<p>Microcephaly patients are born with a brain size >3 standard deviations below normal and have mild to severe cognitive deficits. 12 microcephaly-linked genes identified in human genetics studies encode microtubule/centrosome-associated proteins and mutations in these genes are strongly tied to …
-
Characterising the function of CDK5RAP2 in the vertebrate centrosome
… mutated in the developmental disorder Primary Microcephaly, where affected individuals have smaller brains than expected for the age- and sex-adjusted mean. Orthologues of CDK5RAP2 in the fruit fly (Centrosomin/Cnn) and in fission yeast (Mod20p) have been well characterised and are known to …
-
Mechanism of CASK-linked ophthalmological disorders
… disability (XLID) and mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH, OMIM# 300749). CASK mutations are also frequently associated with optic nerve hypoplasia (ONH) which is the most common cause of childhood blindness in developed countries. Some patients …
-
Perfil clínico-epidemiológico de recién nacidos con microcefalia y antecedentes infecciosos maternos en el Hospital Nacional San Juan de Dios San Miguel, en el año 2015-2019
… infantil. ABSTRAC:A child is considered to have microcephaly when the head circumference is more than three standard deviations (SD) below the mean for age and sex. Microcephaly, although it is not considered a common pathology, its impact on the deterioration of neurocognitive development very …
-
Distinct Roles for Dynein Regulatory Proteins NudE and NudEL in Brain Development
… Mice null for Nde1, the gene encoding NudE, have microcephaly, whereas mice null for Ndel1, which encodes NudEL, are embryonic lethal. Additionally, Nde1 mutations have recently been shown to result in microcephaly and lissencephaly in human patients. NudE and NudEL are functionally related …
-
Disease burden of Congenital Rubella Syndrome at four referral hospital in Zambia
… heart disease (patent ductus arteriosus) and microcephaly. The commonest combined clinical features were congenital heart disease, congenital cataracts and microcephaly (14% {5/36}). Incidence was calculated for 2014 only as it had complete data. The incidence of CRS per 1, 000 live births was …
-
Disease burden of Congenital Rubella Syndrome at four referral hospital in Zambia
… heart disease (patent ductus arteriosus) and microcephaly. The commonest combined clinical features were congenital heart disease, congenital cataracts and microcephaly (14% {5/36}). Incidence was calculated for 2014 only as it had complete data. The incidence of CRS per 1, 000 live births was …
-
The development and use of cutting edge next generation sequencing methodologies to study RNA viruses
… in S. America was associated with development of microcephaly in infants born to expectant mothers infected early in pregnancy we wanted to study the transfer of ZIKV from mother to fetus. As this involves placental infection, we extracted total cellular RNA from ZIKV infected (or mock-infected) …
-
Innate immunity in Zika Virus infection and neurogenesis deficits
… virus (ZIKV) outbreaks and their strong link to microcephaly have raised public health concerns globally. Clinical and animal studies have shown that miscarriage and brain malformation are more frequent when infection occurs during early pregnancy. ZIKV-associated microcephaly is most likely due …
-
Investigating Multiple Modifier Network Candidates as Suppressors of zyg-1/PLK4 in C. elegans
… ortholog, PLK4, being implicated in symptomatic microcephaly, elucidation of the modifier networks and phenotype-altering interaction may lead to further understanding of the mechanisms that cause developmental microcephaly and can have expanded applications to other genetic diseases.
-
Genetic determinants underlying rare diseases identified using next-generation sequencing technologies
… families with brachydactyly, cerebral atrophy, microcephaly-ichthyosis, and widow’s peak syndrome. Understanding these variants and their contribution to disease can increase understanding of disease mechanisms and help with the development of therapeutic interventions in the future.
-
ANALYSIS OF B LYMPHOCYTES IN MOUSE MODEL LIGASE IV WITH HYPOMORPHIC MUTATION IN VDJ RECOMBINATION ASSOCIATED WITH GROWTH DEFECT
… degrees of lymphopenia, growth retardation and microcephaly. The phenotypic effects of the impaired repair of non programmed DNA damage are more diverse and difficult to study. Although such defects in cell survival and proliferation are likely to have an impact on the immune system, their …
-
DISSECTING THE ROLE OF GOLGI TRAFFIC IN BRAIN DEVELOPMENT ACROSS HEALTH AND DISEASE: A LESSON FROM COG5-CDG STUDIES
… brain development impairments, such as primary microcephaly, are described in most CDG patients. Despite the increased number of diagnosed patients, the cell biological mechanisms linking defective Golgi glycosylation and neurodevelopmental manifestations are currently unknown. Here we try to …
-
Dissecting the role of AUTS2 and GALNT17 in neurodevelopment using a mouse model for human AUTS2 syndrome
… delay, feeding difficulties, epilepsy, microcephaly, and craniofacial abnormalities. Moreover, the severity of each of these phenotypes in individual ASD patients varies dramatically, because most ASD cases are multigenic, involving mutations in a wide variety of heterogenous genes; many …
-
Investigating the function of Citron kinase and its regulation by other mitotic kinases
… with many human diseases, including cancer, microcephaly, infertility and blood disorders, thus understanding the mechanisms underpinning this process is crucial for the development of treatments for these pathologies. In this thesis I investigated the function and regulation of the …
-
Distinct DNA Damage Signaling in the Brain Distinguishes ATLD, NBS, and ATR-Seckel Syndrome
… Syndrome (NBS), which is characterized by microcephaly without evidence of neurodegeneration. Thus far mutations in Rad50 have not been reported in humans. In order to better understand the roles of ATM and MRN signaling in maintaining physical and functional integrity of the CNS, mutant …
-
Genetic and genomic studies of mouse and human NR2E1 in cortical disorders, aggressive behaviour, and psychiatric disease
… regions of this gene in 60 subjects with microcephaly. Four candidate regulatory mutations were identified. To help interpret these findings, the genomic architecture and molecular evolution of NR2E1 were characterized in 94ethnically-diverse humans and 13 non-human primates, which …
Page 1 of 3