Open Access Theses and Dissertations

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You searched for subject:(GABRB3). Showing records 1 – 3 of 3 total matches.

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1. Arrubla Martínez, Jorge Andrés. The effect of GABRB3 polymorphisms on brain function and structure in healthy male volunteers assessed by multimodal imaging.

Degree: 2017, Maastricht University

URL: https://cris.maastrichtuniversity.nl/en/publications/efcc560a-0db2-4185-91f3-f91d3b5dcbaa  ; urn:nbn:nl:ui:27-efcc560a-0db2-4185-91f3-f91d3b5dcbaa ; efcc560a-0db2-4185-91f3-f91d3b5dcbaa ; 10.26481/dis.20170712jaam ; urn:nbn:nl:ui:27-efcc560a-0db2-4185-91f3-f91d3b5dcbaa ; https://cris.maastrichtuniversity.nl/en/publications/efcc560a-0db2-4185-91f3-f91d3b5dcbaa 

The genetic information codified in our DNA defines many features of the human body, and this also includes the structure and functioning of the brain. In this study a gene called “GABRB3” was investigated. This gene is important for epilepsy, autism and genetic disorders. Using magnetic resonance imaging and electroencephalography the study showed that this gene influence areas of the brain relevant for speech, movement and communication between brain sides. The results allow a better understanding of how genes control the human brain and make this gene a strong candidate for future investigations and for possible genetic therapy. Advisors/Committee Members: Shah, Nadim, Luxen, André, Neuner, I., RS: FPN CN 2.

Subjects/Keywords: GABRB3; multimodal imaging

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6th Edition):

Arrubla Martínez, J. A. (2017). The effect of GABRB3 polymorphisms on brain function and structure in healthy male volunteers assessed by multimodal imaging. (Doctoral Dissertation). Maastricht University. Retrieved from https://cris.maastrichtuniversity.nl/en/publications/efcc560a-0db2-4185-91f3-f91d3b5dcbaa ; urn:nbn:nl:ui:27-efcc560a-0db2-4185-91f3-f91d3b5dcbaa ; efcc560a-0db2-4185-91f3-f91d3b5dcbaa ; 10.26481/dis.20170712jaam ; urn:nbn:nl:ui:27-efcc560a-0db2-4185-91f3-f91d3b5dcbaa ; https://cris.maastrichtuniversity.nl/en/publications/efcc560a-0db2-4185-91f3-f91d3b5dcbaa

Chicago Manual of Style (16th Edition):

Arrubla Martínez, Jorge Andrés. “The effect of GABRB3 polymorphisms on brain function and structure in healthy male volunteers assessed by multimodal imaging.” 2017. Doctoral Dissertation, Maastricht University. Accessed March 06, 2021. https://cris.maastrichtuniversity.nl/en/publications/efcc560a-0db2-4185-91f3-f91d3b5dcbaa ; urn:nbn:nl:ui:27-efcc560a-0db2-4185-91f3-f91d3b5dcbaa ; efcc560a-0db2-4185-91f3-f91d3b5dcbaa ; 10.26481/dis.20170712jaam ; urn:nbn:nl:ui:27-efcc560a-0db2-4185-91f3-f91d3b5dcbaa ; https://cris.maastrichtuniversity.nl/en/publications/efcc560a-0db2-4185-91f3-f91d3b5dcbaa.

MLA Handbook (7th Edition):

Arrubla Martínez, Jorge Andrés. “The effect of GABRB3 polymorphisms on brain function and structure in healthy male volunteers assessed by multimodal imaging.” 2017. Web. 06 Mar 2021.

Vancouver:

Arrubla Martínez JA. The effect of GABRB3 polymorphisms on brain function and structure in healthy male volunteers assessed by multimodal imaging. [Internet] [Doctoral dissertation]. Maastricht University; 2017. [cited 2021 Mar 06]. Available from: https://cris.maastrichtuniversity.nl/en/publications/efcc560a-0db2-4185-91f3-f91d3b5dcbaa ; urn:nbn:nl:ui:27-efcc560a-0db2-4185-91f3-f91d3b5dcbaa ; efcc560a-0db2-4185-91f3-f91d3b5dcbaa ; 10.26481/dis.20170712jaam ; urn:nbn:nl:ui:27-efcc560a-0db2-4185-91f3-f91d3b5dcbaa ; https://cris.maastrichtuniversity.nl/en/publications/efcc560a-0db2-4185-91f3-f91d3b5dcbaa.

Council of Science Editors:

Arrubla Martínez JA. The effect of GABRB3 polymorphisms on brain function and structure in healthy male volunteers assessed by multimodal imaging. [Doctoral Dissertation]. Maastricht University; 2017. Available from: https://cris.maastrichtuniversity.nl/en/publications/efcc560a-0db2-4185-91f3-f91d3b5dcbaa ; urn:nbn:nl:ui:27-efcc560a-0db2-4185-91f3-f91d3b5dcbaa ; efcc560a-0db2-4185-91f3-f91d3b5dcbaa ; 10.26481/dis.20170712jaam ; urn:nbn:nl:ui:27-efcc560a-0db2-4185-91f3-f91d3b5dcbaa ; https://cris.maastrichtuniversity.nl/en/publications/efcc560a-0db2-4185-91f3-f91d3b5dcbaa


San Jose State University

2. Subramanyam, Geetha. Acute effects of maternal immune activation and its interaction with Gabrb3 on mouse fetal development.

Degree: MS, Biological Sciences, 2015, San Jose State University

URL: https://doi.org/10.31979/etd.97vd-k6nn  ; https://scholarworks.sjsu.edu/etd_theses/4614 

Autism spectrum disorder (ASD) is a group of neuro-developmental disorders characterized by social communication deficits and repetitive behaviors. ASD is believed to be caused by a number of genetic and environmental risk factors and complex interactions between them. Human clinical studies have shown an association between bacterial and viral infections in pregnant women during the first and second trimesters and ASD in their offspring. In addition, studies using animal models have linked an inflammatory state in the mother to ASD-relevant behaviors in the offspring, but the molecular mechanisms mediating the influence of these prenatal risk factors on behavior are unknown. To understand the acute effects of maternal immune activation (MIA) on embryonic neurobiological abnormalities, we administered bacterial mimetic lipopolysaccharide (LPS) and viral mimetic poly inosinic: cytidilic acid (Poly I:C) during mid-gestation in pregnant mice. In this period, the placenta, though vulnerable to environmental insults, allows for most fetuses to survive to term and for cortical neurogenesis to actively occur in the fetal brain. Twenty four hours after LPS and Poly I:C administration, we observed defects in neocortical neural progenitor proliferation and apical cytoarchitecture, differentiation and lineage specification. We also report variations in responses to LPS and Poly I:C, suggesting a differential vulnerability. Finally, we show a unique gene - environment interaction study with MIA and Gabrb3, one of the genes implicated in ASD, leading to synergistic adverse effects on pregnancy.

Subjects/Keywords: Gabrb3; gene-environment; LPS; Maternal immune activation; Neural progenitor cells; Poly I:C

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6th Edition):

Subramanyam, G. (2015). Acute effects of maternal immune activation and its interaction with Gabrb3 on mouse fetal development. (Masters Thesis). San Jose State University. Retrieved from https://doi.org/10.31979/etd.97vd-k6nn ; https://scholarworks.sjsu.edu/etd_theses/4614

Chicago Manual of Style (16th Edition):

Subramanyam, Geetha. “Acute effects of maternal immune activation and its interaction with Gabrb3 on mouse fetal development.” 2015. Masters Thesis, San Jose State University. Accessed March 06, 2021. https://doi.org/10.31979/etd.97vd-k6nn ; https://scholarworks.sjsu.edu/etd_theses/4614.

MLA Handbook (7th Edition):

Subramanyam, Geetha. “Acute effects of maternal immune activation and its interaction with Gabrb3 on mouse fetal development.” 2015. Web. 06 Mar 2021.

Vancouver:

Subramanyam G. Acute effects of maternal immune activation and its interaction with Gabrb3 on mouse fetal development. [Internet] [Masters thesis]. San Jose State University; 2015. [cited 2021 Mar 06]. Available from: https://doi.org/10.31979/etd.97vd-k6nn ; https://scholarworks.sjsu.edu/etd_theses/4614.

Council of Science Editors:

Subramanyam G. Acute effects of maternal immune activation and its interaction with Gabrb3 on mouse fetal development. [Masters Thesis]. San Jose State University; 2015. Available from: https://doi.org/10.31979/etd.97vd-k6nn ; https://scholarworks.sjsu.edu/etd_theses/4614


Vanderbilt University

3. Delahanty, Ryan James. Towards an understanding of the role of chromosome 15q11-q13 in idiopathic autism.

Degree: PhD, Human Genetics, 2010, Vanderbilt University

URL: http://hdl.handle.net/1803/10492 

TOWARD AN UNDERSTANDING OF THE ROLE OF CHROMOSOME 15Q11-Q13 IN IDIOPATHIC AUTISM RYAN JAMES DELAHANTY Dissertation under the direction of Dr. James S. Sutcliffe The 15q11-q13 region is a genomic interval involved in a growing number of genomic disorders. The genes in the interval are subject to imprinting and parent-of-origin expression effects. Maternal duplication of the 15q11-q13 region is the most frequent chromosomal abnormality associated with autism. Extensive work has indicated that two genes in this interval, UBE3A and GABRB3, show very strong evidence for association with autism. To examine the extent to which these genes may contribute to autism, family-based association studies of UBE3A and GABRB3 were undertaken. Here we have investigated the role of common variants of UBE3A and GABRB3 in autism as well as the an intense investigation of the association of a rare variant, P11S in GABRB3 and its role in autism. In addition, we have investigated MECP2, a gene which when defective causes Rett syndrome, and potentially regulates gene expression of UBE3A and GABRB3. e have used genetic and biochemical methods to investigate two genes in the UBE3A network, ECT2 and GCH1. Finally, we used genotype data and multiplex ligation probe amplification (MLPA) to determine if copy number variation in the form of deletions and duplications in UBE3A and GABRB3 may play a role in the etiology of autism. Our findings indicated that a common allele of MECP2 is associated with autism, which was replicated by another group. We show association with UBE3A and its associated genes ECT2 and GCH1 as well as a relationship between UBE3A and GCH1 gene and protein expression, observed in a model system, and validated in our samples, which may provide guidance and support for a role of UBE3A and its action at the synapse and potential contribution to autism. We show modest association of GABRB3 with autism and epilepsy, but find a single coding variant, P11S, maternally overtransmitted and in such cases dramatically increasing autism risk. Finally, we found little evidence for microdeletions or microduplications in UBE3A and GABRB3 to contribute to autism pathology. The work presented in this thesis expands on earlier findings with regard to the role of GABRB3 and UBE3A in autism and represents an investigation of variants in these and their related genes spanning the spectrum from common variants of modest effect to rare variants of more profound effect. The availability of new technologies to evaluate copy number variation and next generation sequencing will likely uncover a wider role for 15q11-q13 and related loci in autism. The role of more highly penetrant private mutations of this nature is suggested as an avenue for further investigation. Advisors/Committee Members: Lawrence T. Reiter (committee member), John A. Phillips III (committee member), Chun Li (committee member), James Sutcliffe (committee member), Scott Williams (Committee Chair).

Subjects/Keywords: 15q11-q13; association; autism; GABRB3; UBE3A; ECT2; GCH1; CNV; MECP2

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6th Edition):

Delahanty, R. J. (2010). Towards an understanding of the role of chromosome 15q11-q13 in idiopathic autism. (Doctoral Dissertation). Vanderbilt University. Retrieved from http://hdl.handle.net/1803/10492

Chicago Manual of Style (16th Edition):

Delahanty, Ryan James. “Towards an understanding of the role of chromosome 15q11-q13 in idiopathic autism.” 2010. Doctoral Dissertation, Vanderbilt University. Accessed March 06, 2021. http://hdl.handle.net/1803/10492.

MLA Handbook (7th Edition):

Delahanty, Ryan James. “Towards an understanding of the role of chromosome 15q11-q13 in idiopathic autism.” 2010. Web. 06 Mar 2021.

Vancouver:

Delahanty RJ. Towards an understanding of the role of chromosome 15q11-q13 in idiopathic autism. [Internet] [Doctoral dissertation]. Vanderbilt University; 2010. [cited 2021 Mar 06]. Available from: http://hdl.handle.net/1803/10492.

Council of Science Editors:

Delahanty RJ. Towards an understanding of the role of chromosome 15q11-q13 in idiopathic autism. [Doctoral Dissertation]. Vanderbilt University; 2010. Available from: http://hdl.handle.net/1803/10492

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