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Rozprawy doktorskie na temat „Hereditary effect”

Autor: Grafiati

Data publikacji: 3 czerwca 2025

Data aktualizacji: 31 lipca 2025

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1

Norgren, Nina. "Hereditary transthyretin amyloidosis (ATTR V30M) : from genes to genealogy." Doctoral thesis, Umeå universitet, Medicin, 2014. http://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-84494.

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Background: Hereditary transthyretin amyloidosis is an autosomal dominant disease with a reduced penetrance. The most common mutation in Sweden is the V30M mutation in the transthyretin gene. Clustering areas of the disease can be found in Northern Sweden, Portugal, Brazil and Japan, although sporadic cases exist worldwide. Despite being caused by the same mutation, there are large differences in onset, penetrance and symptoms of the disease. Swedish V30M patients typically have a later onset with a lower penetrance compared to those from the clustering Portuguese V30M areas. The reasons for t

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KREKEL, CHRISTINE ELIZABETH. "THE EFFECT OF CLINICAL PRACTICE LOCATION ON PHYSICIAN REFERRAL PRACTICES AND ATTITUDES FOR HEREDITARY BREAST CANCER." University of Cincinnati / OhioLINK, 2002. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1025639885.

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Perrier-Trudova, Victoria. "Molecular characterization of hereditary and sporadic papillary renal cell carcinoma type 2 (PRCC2)." Thesis, Paris, EPHE, 2015. http://www.theses.fr/2015EPHE3085.

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Le cancer du rein papillaire de type 2 (PRCC2) est un cancer très agressif avec un potentiel métastatique élevé et pour lequel il n’y a pas de traitement efficace. La forme héréditaire de PRCC2 est associée au syndrome rare de la léiomyomatose cutanéo-utérine héréditaire (HLRCC). HLRCC est due à une mutation germinale hétérozygote du gène Fumarate Hydratase (FH) qui code l'enzyme du cycle de Krebs, la Fumarase. Le déficit en fumarase induit l’accumulation de fumarate et active les voies de signalisation du facteur de transcription inductible par l’hypoxie (HIF) et des espèces réactives de l’ox

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4

Hept, Megan A. "ANALYZING THE PHENOTYPIC EFFECT OF THREE CANDIDATE GENES ASSOCIATED WITH NONSYNDROMIC CRANIOSYNOSTOSIS USING A ZEBRAFISH MODEL." VCU Scholars Compass, 2017. http://scholarscompass.vcu.edu/etd/5021.

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In normal cranial suture development, the cranial sutures close at predetermined periods of development to allow the brain the capability to grow in a malleable environment. However, in craniosynostosis, cranial sutures prematurely fuse before birth which can lead to a wide range of developmental issues and complications. Craniosynostosis can be categorized as nonsyndromic which involves the sole fusion of one or more of the cranial sutures, or syndromic in which cranial sutures fuse as well as other abnormalities associated with a genetic disorder. Past research has identified three candidate

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Rocheleau, Jessica Marie. "Effect of KCNE1 and KCNE3 Accessory Subunits on KCNQ1 Potassium Channel Function: A Dissertation." eScholarship@UMMS, 2008. https://escholarship.umassmed.edu/gsbs_diss/397.

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The KCNE1 and KCNE3 type I transmembrane-spanning β-subunits assemble with the KCNQ1 voltage-gated K+ channel to afford membrane-embedded complexes with dramatically different properties. Assembly with KCNE1 produces the very slowly activating and deactivating IKs current that shapes the repolarization phase of cardiac action potentials. Genetic mutations in KCNQ1 or KCNE1 that reduce IKs current cause long QT syndrome and predispose affected individuals to potentially fatal cardiac arrhythmias. In contrast, complexes formed between KCNQ1 and KCNE3 produce rapidly activating and mostly voltage

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6

Stone, Elizabeth Anne. "Multilevel Model Selection: A Regularization Approach Incorporating Heredity Constraints." Diss., Temple University Libraries, 2013. http://cdm16002.contentdm.oclc.org/cdm/ref/collection/p245801coll10/id/234414.

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Statistics<br>Ph.D.<br>This dissertation focuses on estimation and selection methods for a simple linear model with two levels of variation. This model provides a foundation for extensions to more levels. We propose new regularization criteria for model selection, subset selection, and variable selection in this context. Regularization is a penalized-estimation approach that shrinks the estimate and selects variables for structured data. This dissertation introduces a procedure (HM-ALASSO) that extends regularized multilevel-model estimation and selection to enforce principles of fixed heredit

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7

Simons, Andrew M. (Andrew Michael). "The effect of environmental variability on heritabilities and genetic correlations of traits in the field cricket, Gryllus pennsylvanicus /." Thesis, McGill University, 1993. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=69659.

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The amount of heritable variation and the pattern of genetic covariation in traits are the chief determinants in the evolution of a population, at least over the short term. A preponderance of heritability (h$ sp2)$ and genetic (r$ rm sb g)$ experiments are performed under laboratory conditions which are characterized by low levels of environmental variability. This thesis describes the investigation of the effects of environmental heterogeneity on phenotypic components of variance and covariance. Full-sib families of the field cricket, Gryllus pennsylvanicus, were split between a homogeneous

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8

Dinkelborg, Katja [Verfasser]. "Investigation of genetic and translational effects of tumor suppressor proteins in two hereditary forms of renal cell carcinoma / Katja Dinkelborg." Göttingen : Niedersächsische Staats- und Universitätsbibliothek Göttingen, 2021. http://d-nb.info/1235756866/34.

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9

Sahenk, Zarife. "The effects of mutant Schwann Cells on the Axonal Cytoskeleton and regeneration-associated myelination in hereditary neuropathies : studies on nerve xenografts /." The Ohio State University, 1998. http://rave.ohiolink.edu/etdc/view?acc_num=osu1487951907960135.

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10

Wassmer, Sarah. "The Effects of XIAP Gene Therapy in a Murine Model of Leber’s Hereditary Optic Neuropathy and a Feline Model of Retinal Detachment." Thesis, Université d'Ottawa / University of Ottawa, 2017. http://hdl.handle.net/10393/35774.

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In Canada alone, there were an estimated 800,000 visually impaired people in 2007, costing the federal government an annual amount of $15.8 billion in services, treatments and lost revenue. These costs are estimated to double by the year 2032, as the population ages. The leading causes of visual impairment and blindness is retinal degeneration, characterized by the progressive death of retinal cells. The research presented in this PhD thesis aimed to prevent retinal degeneration by over-expressing the X-linked Inhibitor of Apoptosis (XIAP) in retinal cells using plasmid and adeno-associated

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11

Lambert, Jean-François. "Effet fondateur et origine de la mutation D9N du gène de la lipase lipoprotéique au sein de la population du Saguenay-Lac-St-Jean /." Thèse, Chicoutimi : Université du Québec à Chicoutimi, 2002. http://theses.uqac.ca.

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12

Shelton, Heath W. "The Effects of Two Novel Anti-Inflammatory Compounds On Prepulse Inhibition and Neural Microglia Cell Activation in a Rodent Model of Schizophrenia." Digital Commons @ East Tennessee State University, 2019. https://dc.etsu.edu/etd/3537.

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Recent studies have shown elevated neuroinflammation in a large subset of individuals diagnosed with schizophrenia. A pro-inflammatory cytokine, tumor necrosis factor-alpha (TNFα), has been directly linked to this neuroinflammation. This study examined the effects of two TNFα modulators (PD2024 and PD340) produced by our collaborators at P2D Bioscience, Inc., to alleviate auditory sensorimotor gating deficits and reduce microglial cell activation present in the polyinosinic:polycytidylic (Poly I:C) rodent model of schizophrenia. Auditory sensorimotor gating was assessed using prepulse inhibiti

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13

Chen, Chiao-Jou, and 陳巧柔. "Estimation and Comparison of the Radiation Hereditary Disease Effect Risk with Terrestrial Mammal in Different Generation Length." Thesis, 2008. http://ndltd.ncl.edu.tw/handle/60943555399902399468.

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14

Fang-Li and 吳芳俐. "Part I The Effect of Dilated Cardiomyopathy and Apoptosis in Hereditary Obese Zucker Rats Part II The Effect of Intermittent Hypoxia on Hypertrophy and Apoptotic Signalings in Zucker Rats Heart Cells." Thesis, 2005. http://ndltd.ncl.edu.tw/handle/10255328684300576445.

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碩士<br>中山醫學大學<br>生化暨生物科技研究所<br>93<br>PartI: The obese Zucker rat, a genetic model of morbid obesity, presents many of the same cardiopulmonary deficits as noted in obese humans. Severe obesity in human has long been recognized as causing a form of cardiomyopathy characterized by increased rates of hypertension, chronic volume overload, left ventricular hypertrophy and the development of heart failure. However, the precise mechanisms of cardiac apoptosis and hypertrophy in sever obesity remain uncertain. The purpose of this study was to evaluate the key components of apoptotic and hypertrophic p

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15

Ann-Chi and 林安琪. "1.Reveal the signaling pathways of Dioscorea extract suppress cardiomyocytes apoptosis and provide protective effects in ovariectomized rats2.Investigation the effect of exercise on cardiomyocytes apoptosis in hereditary obese Zucker Rats." Thesis, 2006. http://ndltd.ncl.edu.tw/handle/34143747757826081359.

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碩士<br>中山醫學大學<br>生化暨生物科技研究所<br>94<br>1.Reveal the signaling pathways of Dioscorea extract suppress cardiomyocytes apoptosis and provide protective effects in ovariectomized rats World Health Organization indicat that Cardiovascular disease is the leading cause of mortality. The phenomenon also in our country. The cardiovascular disease is significantly lower in women than in men until menopause, after which the cardiovascular risk of women accelerates to equal that of men. Therefore this observation suggests a possibility that female sex hormones, such as estrogen, may have a favorable cardiova

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16

Putorti, Maria Lisa. "Caractérisation clinique et génétique d’une famille canadienne-française atteinte de la neuropathie héréditaire sensitive avec rétinite pigmentaire et ataxie." Thèse, 2010. http://hdl.handle.net/1866/4109.

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La complexité de l’étude des neuropathies héréditaires provient de leur hétérogénéité clinique et génétique et de la diversité des fibres composant les nerfs périphériques. Cette complexité se reflète dans les nombreuses classifications différentes. Les neuropathies héréditaires se classifient entre autres selon leur mode de transmission et leur atteinte sensitive, autonomique et motrice. Les neuropathies héréditaires sensitives et autonomiques (NHSA) se présentent avec une perte de la sensation distale aux membres, accompagnée d’autres manifestations selon le type de NHSA. L’étude des NHSA es

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17

林郁倩. "Analysis of Unreplicated Fractional Factorial Designs under Effect Heredity Principle." Thesis, 2012. http://ndltd.ncl.edu.tw/handle/98315184609107023483.

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18

Chen, Shu-Ting, and 陳淑婷. "The Effects of Hereditary Mutations of Phosphoglucose Isomerase on Its Catalytic Efficiency and Structural Stability." Thesis, 2002. http://ndltd.ncl.edu.tw/handle/76586137081751082832.

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碩士<br>國立中興大學<br>農業生物科技學研究所<br>90<br>. Phosphoglucose isomerase （E C 5.3.1.9;PGI） is a dimeric enzyme that catalyzes the reversible inter-conversion of glucose-6-phosphate（G-6-P）and fructose-6-phosphate（F-6-P） in glycolysis and gluconeogenesis pathways. Phosphoglucose isomerase deficiency is the third most common enzyme deficiency known to cause hereditary nonspherocytic hemolytic anemia. Our aim is to analyze the catalytic efficiency and structural stability of the inherited mutant phosphoglucose isomerase. The mutated proteins were generated by site-directed mutagenesis and expressed in E. co

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19

Kao, YaHeui, and 高雅惠. "The effects of hereditary mutations of phosphoglucose isomerase on its catalytic efficiency and structural stability." Thesis, 2005. http://ndltd.ncl.edu.tw/handle/35948639173078914110.

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碩士<br>國立中興大學<br>生物科技學研究所<br>93<br>Phosphoglucose isomerase (EC 5.3.1.9, PGI) is a dimeric enzyme that catalyzes the reversible interconversion of glucose-6-phosphate (G6P) and fructose-6-phosphate (F6P) . PGI plays an important role in glycolysis, gluconeogenesis and pentose phosphate cycle. Phosphoglucose isomerase deficiency is the third most common enzyme deficiency known to cause hereditary nonspherocytic hemolytic anemia. Our aim is to analyze the catalytic efficiency and structural stability of the inherited mutant phosphoglucose isomerase. The mutated enzymes were generated by site-dire

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20

Thomas, Tina. "A Québec mystery unveiled : the quest to understand hereditary sensory and autonomic neuropathy type 2." Thèse, 2007. http://hdl.handle.net/1866/15782.

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21

Jankauskaite, Elona. "Effects of sex hormones on cell death in cells with mutations responsible for Leber’s hereditary optic neuropathy." Doctoral thesis, 2019. https://depotuw.ceon.pl/handle/item/3475.

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Leber’s hereditary optic neuropathy (LHON) is a maternally inherited form of incurable bilateral and painless vision loss due to isolated atrophy of the optic nerve caused by point mutations in mitochondrial DNA (mtDNA). LHON occurs mostly in young men affecting both eyes simultaneously or sequentially in a period of a few months or weeks with usually very poor visual prognosis. It is estimated that 1 in 20,000 individuals in Europe are affected with this disease. The most common three mtDNA point mutations account for over 90% of diagnosed LHON cases: m.11778G>A, m.3460G>A and m.14484T>C. In

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22

WU, YI-CHING. "Molecular Dynamics Simulations to Investigate the Effects of Ethanol and Temperature on the Structural Integrity of Human Lysozyme and the Conformational Changes of Several Human Lysozyme Variants Associated with Hereditary Systemic Amyloidosis." 2006. http://www.cetd.com.tw/ec/thesisdetail.aspx?etdun=U0006-0108200613553900.

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23

WU, YI-CHING, and 吳宜靜. "Molecular Dynamics Simulations to Investigate the Effects of Ethanol and Temperature on the Structural Integrity of Human Lysozyme and the Conformational Changes of Several Human Lysozyme Variants Associated with Hereditary Systemic Amyloidosis." Thesis, 2006. http://ndltd.ncl.edu.tw/handle/wyvfp9.

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碩士<br>國立臺北科技大學<br>化學工程所<br>94<br>In this study, molecular dynamics (MD) simulations were conducted to investigate 1) the effects of ethanol and temperature on the structural integrity of human lysozyme and 2) the relationships between several human lysozyme variants and amyloidosis. For the first subject, various 2ns MD simulations in ethanol and water with periodic boundary condition at 300, 400, 500, and 600K were conducted. The results show that ethanol exhibits the ability to stabilize human lysozyme at low temperature, whereas it tends to destabilize this protein at high temperature. It c

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24

Monteiro, Lúcia de Fátima Mendes. "Sensibilidade à radiação ionizante de portadores de variantes causais nos genes BRCA1/2." Master's thesis, 2021. http://hdl.handle.net/10316/98767.

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Dissertação de Mestrado em Investigação Biomédica apresentada à Faculdade de Medicina<br>A síndrome hereditária de cancro da mama/ovário (HBOC) é definida pela identificação de variantes causais germinativas em heterozigotia nos genes supressores tumorais BRCA1 ou BRCA2. Os indivíduos portadores apresentam risco aumentado para o desenvolvimento de várias neoplasias. Por esse motivo, são submetidos a uma vigilância específica, que pode incluir a realização de exames com radiação ionizante, como a mamografia. Além disso, podem ter de ser submetidos à exposição a radiação ionizante por outros mot

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25

Valente, Paulo Francisco Constantino. "Data-driven quality by design for complex generic drug products." Master's thesis, 2019. http://hdl.handle.net/10316/88014.

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Dissertação de Mestrado Integrado em Engenharia Biomédica apresentada à Faculdade de Ciências e Tecnologia<br>A indústria farmacêutica é uma das atividades mais inovadoras e regulamentadas, sendo a distribuição dos componentes terapêuticos no corpo humano, com a qualidade desejada, um dos grandes focos da investigação nesta área. Para garantir que a qualidade final dos medicamentos seja uma preocupação em todas as etapas do seu desenvolvimento, as entidades reguladoras têm incentivado as empresas a adotarem princípios de qualidade pelo design, o que promove mais conhecimento sobre o processo e

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