Global ETD Search
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Showing 1 to 20 of 74 for “"haploinsufficiency"”.
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Neuromuscular Deficits Associated With KMT5B Haploinsufficiency in Mice
… neuromuscular deficits associated with Kmt5b haploinsufficiency are not caused by Kmt5b’s role within the neuromuscular system, but rather are caused by Kmt5b’s effect on IGF-1. This effect has yet to be explored further and is the primary hypothesis for further investigation.
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HAPLOINSUFFICIENCY OF RAI1 AND ITS EFFECT ON BDNF EXPRESSION
Smith-Magenis Syndrome (SMS) [OMIM, #182290] is a congenital anomaly and mental retardation (MCA/MR) syndrome associated with deletion of chromosome17p11.2 [1]. The clinical phenotype has been well described and includes minor craniofacial anomalies, self-injurious behaviors as well as sleep …
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The persistence of haploinsufficiency and its role in genome evolution
… in eukaryotic species from yeast to humans. Why haploinsufficiency persists over evolutionary time is not known. To answer this, I systematically tested two existing models of haploinsufficiency: 1) the dosage stabilizing hypothesis, which states that haploinsufficiency is caused by imbalances …
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Effect of Nedd4 Haploinsufficiency on Insulin Sensitivity, Adiposity and Neuronal Behaviors
… that these beneficial effects of Nedd4 haploinsufficiency under conditions promoting obesity or type 2 diabetes (T2D) derive from at least two mechanisms: 1) elevated levels of β- agonist induced lipolysis through stimulation of β-adrenergic signaling as evidenced by enhanced β2 …
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Pax5 Haploinsufficiency Cooperates with BCR-ABL1 to Induce Acute Lymphoblastic Leukemia
… The <em>IKZF1</em> deletions resulted in haploinsufficiency, expression of a dominant-negative Ikaros isoform, or the complete loss of Ikaros expression. Sequencing of <em>IKZF1</em>deletion breakpoints suggested that aberrant RAG-mediated recombination is responsible for the deletions. …
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Investigating the Effects of C9orf72 Haploinsufficiency on TDP-43 Pathology in ALS
In amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), transactive response DNA-binding protein 43 (TDP-43), a mainly nuclear DNA/RNA binding protein, is mislocalized to the cytoplasm of diseased neurons, where it forms abnormally phosphorylated and ubiquitinated inclusions, …
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Haploinsufficiency of Cardiac Myosin Binding Protein-C in the Development of Hypertrophic Cardiomyopathy
… does not produce any protein, it is thought that haploinsufficiency (i.e. the inability for one allele to express enough protein) causes the development of HCM. In symptomatic heterozygous patients with null MYBPC3 mutations, reduced cMyBP-C levels have been shown. As protein levels in …
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Arid1a Haploinsufficiency Initiates Neural Crest Transformation in a Mouse Model of Mycn-driven Neuroblastoma
Mouse models of cancer are critical for developing therapeutic treatments for pediatric patients. Recent sequencing studies of neuroblastoma (NBL) patient tumors have uncovered precise deletions in the chromatin remodeler and tumor suppressor gene (TSG) ARID1A. Additional causal studies supported …
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A Search For Genetic Modifiers Responsible For Congenital Heart Disease Variability In The Presence Of Nkx2-5 Haploinsufficiency
<p>While a clear heritable risk has been observed for congenital heart disease, there is considerable variation in penetrance and presentation likely due to multiple genetic and environmental risk factors. To identify causative factors and interactions responsible for variability in heart …
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Diverse Mechanisms Impair Thalamic Circuit Function in a Dravet Syndrome Mouse Model
… the voltage-gated sodium channel, NaV1.1. Haploinsufficiency of NaV1.1 in DS patients leads to imbalanced excitability across brain circuits, resulting in a broad phenotypic profile including drug-resistant convulsive and non-convulsive (absence) seizures, cognitive impairment, ataxia, and …
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The Mechanism of Obesity in Rai1+/- Mice
… gene on chromosome 17p11.2 that results in haploinsufficiency. SMS patients with a deletion account for 90% of the cases, while the other 10% have a mutation in RAI1. The syndrome is characterized by cognitive impairment, craniofacial abnormalities, sleep disturbances, developmental delay, …
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Characterizing the contribution of the LXCXE binding cleft to pRB-mediated genome stability and tumor suppression
… G1 phase of the cell division cycle. Moreover, haploinsufficiency of Rb1 was enough to compromise loading of Condensin II at pericentromeric DNA and elicit the same defects. Significantly, RB1+/- fibroblasts from retinoblastoma patients also exhibit DNA damage and mitotic errors. And, in cancers …
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The Effect of Retinoic Acid on Rai1 and Identification of Retinoic Acid Receptor Binding Site in Human Rai1
Previous studies showed haploinsufficiency of RAI1 is the main cause of Smith-Magenis syndrome (SMS). SMS is a developmental neurobehavioral syndrome characterized by intellectual disability, congenital anomalies, obesity, neurobehavioral abnormalities, and disrupted circadian sleep-wake pattern. …
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Biomechanical and Molecular Approaches to Aortic Valve Disease in a Mouse Model
… or deletions in the elastin gene cause elastin haploinsufficiency, a clinical condition associated with valve abnormalities in 20-45% of the patients. However, the site and temporal onset of disease, together with progressive alterations in biomechanical and molecular properties of the regional …
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EPIGENETIC AND FUNCTIONAL ASSESSMENT OF ENHANCEROPATHIES ACROSS HUMAN MODELS: FOCUS ON GABRIELE-DE VRIES SYNDROME
… disability (ID) features. Indeed, YY1 haploinsufficiency causes a NDD with ID, named Gabriele-de Vries syndrome (GADEVS). Although it is known that YY1 controls the expression of a dazzling list of genes and influences various cellular processes in numerous cell types, the impact of …
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Role of chromatin condensates in tuning nuclear mechano-sensing in Kabuki Syndrome
… KS is a rare monogenic disease caused by the haploinsufficiency in the KMT2D gene encoding for MLL4, a H3K4-specific methyltransferase important for the regulation of gene expression. By interrogating the effect of KMT2D haploinsufficiency in Mesenchymal Stem Cells (MSCs) we discovered that …
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GENETIC CONTROL OF EYE AND CENTRAL NERVOUS SYSTEM DEVELOPMENT
Aniridia, a congenital ocular disorder caused by haploinsufficiency of transcription factor PAX6, is characterized by complete or partial iris hypoplasia with associated foveal hypoplasia. Brain imaging performed in patients heterozygous for PAX6 mutations often reveal absence of the brain anterior …
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Functional consequences of mutations in GRIN2A and GRIN2B associated with mental disorders
… of the functional consequences of GluN2A haploinsufficiency in a genetically modified rat was also performed. Three of the four missense mutations were found to be associated with profound alterations in fundamental NMDA receptor properties: compared to wild type, GluN2AN615K was found to …
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The Functional Roles for SWI/SNF Chromatin Remodeling Complexes in Physiology and Disease
… disorders, as well as in cancers. Particularly haploinsufficiency of ARID1B, a SWI/SNF chromatin-remodeling subunit, has been implicated in short stature, autism spectrum disorder, intellectual disability, and corpus callosum agenesis. In addition, ARID1B is the most common cause of Coffin-Siris …
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STRESS GRANULES MODULATE SYK TO CAUSE MICROGLIAL DYSFUNCTION IN ALZHEIMER’S DISEASE
… knockdown of SYK expression by shRNA and SYK haploinsufficiency in mouse microglial cells. SYK is active within the resulting stress granules where it catalyzes the phosphorylation of stress granule-associated proteins on tyrosine. SYK-dependent stress granule
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