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Full-Text Articles in Life Sciences

Muscle Defects Lead To Skeletal Deformities In A Zebrafish Model Of Distal Arthrogryposis, Emily A. Tomak Aug 2023

Muscle Defects Lead To Skeletal Deformities In A Zebrafish Model Of Distal Arthrogryposis, Emily A. Tomak

Electronic Theses and Dissertations

Distal Arthrogryposis Type 1 (DA1) involves mild muscle weakness and limb skeletal abnormalities thought to be caused by paralysis in utero. Why the limbs are particularly affected in DA1 and the degree of paralysis that leads to these skeletal deformities in utero remains unclear. Several muscle genes are known to cause DA1, including MYLPF (myosin light chain phosphorylatable), which encodes a myosin light chain protein that binds close to the force-generating head of myosin heavy chains. The zebrafish mylpfa-/- mutant displays a phenotype consistent with DA1, including impaired myosin activity, reduced muscle force overall, and complete fin paralysis. I …


Primary Cilia Of The Cardiac Neural Crest & Hedgehog-Mediated Mechanisms Of Congenital Heart Disease, Lindsey A. Fitzsimons May 2022

Primary Cilia Of The Cardiac Neural Crest & Hedgehog-Mediated Mechanisms Of Congenital Heart Disease, Lindsey A. Fitzsimons

Electronic Theses and Dissertations

Elimination of primary cilia in cardiac neural crest cell (CNCC) progenitors is hypothesized to cause a variety of congenital heart defects (CHDs), including atrioventricular septal defects, and malformations of the developing cardiac outflow tract. We present an in vivo model of CHD resulting from the conditional elimination of primary cilia from CNCC using multiple, Wnt1:Cre-loxP, neural crest-specific systems, targeting two distinctive, but critical, primary cilia structural genes: Intraflagellar transport protein 88 (Ift88) or kinesin family member 3A (Kif3a). CNCC loss of primary cilia leads to widespread CHD, where homozygous mutant embryos (MUT) display a variety of outflow tract malformations, septation …


Ecological Niche Modeling Of Lyme Disease Risk In Maine Based On Human Case Data, Elizabeth Dee May 2021

Ecological Niche Modeling Of Lyme Disease Risk In Maine Based On Human Case Data, Elizabeth Dee

Honors College

Ixodes scapularis, the blacklegged tick,is the primary vector for the Lyme disease-causing bacteria Borrelia burgdorferi in the United States.Lyme disease poses a significant concern to the state of Maine, as both the number and geographic distribution of cases across the state have been steadily increasing over the past two decades. In 2001, there were 108 confirmed or probable cases of Lyme disease in Maine compared to 1404 cases in 2018. Using tick-borne disease human case data from the Maine CDC andArcGIS software, I created three Lyme disease maps for the years 2001, 2009, and 2017. These maps show the number …


Blacklegged Tick (Ixodes Scapularis) Distribution In Maine, Usa, As Related To Climate Change, White-Tailed Deer, And The Landscape, Susan P. Elias May 2019

Blacklegged Tick (Ixodes Scapularis) Distribution In Maine, Usa, As Related To Climate Change, White-Tailed Deer, And The Landscape, Susan P. Elias

Electronic Theses and Dissertations

Lyme disease is caused by the bacterial spirochete Borrelia burgdorferi, which is transmitted through the bite of an infected blacklegged (deer) tick (Ixodes scapularis). Geographic invasion of I. scapularis in North America has been attributed to causes including 20th century reforestation and suburbanization, burgeoning populations of the white-tailed deer (Odocoileus virginianus) which is the primary reproductive host of I. scapularis, tick-associated non-native plant invasions, and climate change. Maine, USA, is a high Lyme disease incidence state, with a history of increasing I. scapularis abundance and northward range expansion. This thesis addresses the question: “To …


Characterization And Functional Rescue Of Congenital Muscular Dystrophy With Megaconial Myopathy In A Mouse Model Of The Disease, Ambreen A. Sayed Dec 2018

Characterization And Functional Rescue Of Congenital Muscular Dystrophy With Megaconial Myopathy In A Mouse Model Of The Disease, Ambreen A. Sayed

Electronic Theses and Dissertations

Congenital muscular dystrophy with megaconial myopathy (MDCMC) is an autosomal recessive disorder characterized by progressive muscle weakness and wasting. Megamitochondria in skeletal muscle biopsies and cognitive impairments in MDCMC patients are observations exclusive to this type of muscular dystrophy. The disease is caused by loss of function mutations in the choline kinase beta (CHKB) gene which results in dysfunction of the Kennedy pathway for the synthesis of phosphatidylcholine (PC). A rostro-caudal muscular dystrophy (rmd) mouse with a deletion in the Chkb gene resulting in MDCMC-like symptoms has been reported by our lab. In order to test if the rmd mice …


Modeling Human Cancer Therapy Response In Patient Derived Xenografts, Joan Malcolm Dec 2018

Modeling Human Cancer Therapy Response In Patient Derived Xenografts, Joan Malcolm

Electronic Theses and Dissertations

Patient‐derived xenografts (PDXs) generated by implanting human tumor tissue into a transplant compliant mouse host have been of increasingly importance to preclinical development and have been demonstrated to have advantages compared to cancer cell lines and cell‐line xenografts (CLX) for modeling therapeutic responses in cancer. Nevertheless, many open questions remain regarding the relationship between study design factors and classification of treatment response and the molecular fidelity of tumors passaged in PDXs relative to the original patient tumor(s). The research described in this dissertation addresses both of these significant issues related to the use of PDXs as a tool for modeling …