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Dissertations / Theses on the topic 'Lissencephaly'

Author: Grafiati

Published: 4 June 2021

Last updated: 26 July 2025

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1

Greenwood, Joel Simeon Fogde. "Excitatory circuits in a mouse model of type I lissencephaly." Diss., Search in ProQuest Dissertations & Theses. UC Only, 2008. http://gateway.proquest.com/openurl?url_ver=Z39.88-2004&rft_val_fmt=info:ofi/fmt:kev:mtx:dissertation&res_dat=xri:pqdiss&rft_dat=xri:pqdiss:3324597.

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2

Tai, Chin-Yin. "Roles of Lissencephaly Gene, LIS1, in Regulating Cytoplasmic Dynein Functions: a Dissertation." eScholarship@UMMS, 2002. https://escholarship.umassmed.edu/gsbs_diss/31.

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Spontaneous mutations in the human LIS1 gene are responsible for Type I lissencephaly ("smooth brain"). The distribution of neurons within the cerebral cortex of lissencephalic children appears randomized, probably owing to a defect in neuronal migration during early development. LIS1 has been implicated in the dynein pathway by genetic analyses in fungi. We previously reported that the vertebrate LIS1 co-localized with dynein at prometaphase kinetochores, and interference with LIS1 function at kinetochore caused misalignment of chromosomes onto the metaphase plate. This leads to a hypothesis

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3

Krefft, Olivia [Verfasser], and Philipp [Akademischer Betreuer] Koch. "Unraveling the pathology of different disease severities in human cerebral organoid models of LIS1-lissencephaly / Olivia Krefft ; Betreuer: Philipp Koch." Heidelberg : Universitätsbibliothek Heidelberg, 2020. http://d-nb.info/1223028062/34.

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4

Huttner, Wieland B., Iva Kelava, and Eric Lewitus. "The secondary loss of gyrencephaly as an example of evolutionary phenotypical reversal." Saechsische Landesbibliothek- Staats- und Universitaetsbibliothek Dresden, 2015. http://nbn-resolving.de/urn:nbn:de:bsz:14-qucosa-178648.

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Gyrencephaly (the folding of the surface of the neocortex) is a mammalian-specific trait present in almost all mammalian orders. Despite the widespread appearance of the trait, little is known about the mechanism of its genesis or its adaptive significance. Still, most of the hypotheses proposed concentrated on the pattern of connectivity of mature neurons as main components of gyri formation. Recent work on embryonic neurogenesis in several species of mammals revealed different progenitor and stem cells and their neurogenic potential as having important roles in the process of gyrification. S

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5

Huttner, Wieland B., Iva Kelava, and Eric Lewitus. "The secondary loss of gyrencephaly as an example of evolutionary phenotypical reversal." Frontiers Media, 2013. https://tud.qucosa.de/id/qucosa%3A28909.

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Gyrencephaly (the folding of the surface of the neocortex) is a mammalian-specific trait present in almost all mammalian orders. Despite the widespread appearance of the trait, little is known about the mechanism of its genesis or its adaptive significance. Still, most of the hypotheses proposed concentrated on the pattern of connectivity of mature neurons as main components of gyri formation. Recent work on embryonic neurogenesis in several species of mammals revealed different progenitor and stem cells and their neurogenic potential as having important roles in the process of gyrification. S

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6

PORTAY, DUPORT JOELLE. "Les syndromes lissencephaliques." Lyon 1, 1989. http://www.theses.fr/1989LYO1M038.

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7

LOYON, JEAN-FRANCOIS. "La lissencephalie isolee classique : approche histopathogenique et vision actuelle d'une dysplasie corticale diffuse rare a partir de deux cas." Dijon, 1994. http://www.theses.fr/1994DIJOM009.

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8

Brulé, Marie-Josée. "Le syndrome de walker et warburg : a propos de deux observations et revue de la litterature." Lille 2, 1994. http://www.theses.fr/1994LIL2M333.

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9

Penisson, Maxime. "Mécanismes de LIS1 dans les progéniteurs neuraux contribuant aux malformations de développement du cortex." Electronic Thesis or Diss., Sorbonne université, 2020. http://www.theses.fr/2020SORUS415.

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Les malformations du développement du cortex sont associées à des troubles de la prolifération des progéniteurs et de la migration neuronale. Les glies radiaires basales (bRGs), un type de progéniteur, sont limités dans les espèces lissencéphaliques mais abondants dans les cerveaux gyrencéphaliques. Le gène LIS1, codant pour un régulateur de la dynéine, est muté dans la lissencéphalie humaine. LIS1 a un rôle dans la division cellulaire et la migration neuronale. Dans cette étude, nous avons généré des cellules bRG-like dans le cerveau embryonnaire murin, pour étudier le rôle de Lis1 dans leur

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10

SIGAUDY, SABINE. "Etude clinique, cytogenetique et moleculaire du syndrome de miller-dieker et des lissencephalies de type 1 isolees." Aix-Marseille 2, 1994. http://www.theses.fr/1994AIX20801.

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11

Cavallin, Mara. "Physiopathologie moléculaire et cellulaire des anomalies du développement du cortex cérébral : le syndrome d'Aicardi WDR81 mutations cause extreme microcephaly and impair mitotic progression in human fibroblasts and Drosophila neural stem cells TLE1, a key player in neurogenesis, a new candidate gene for autosomal recessive postnatal microcephaly Mutations in TBR1 gene leads to cortical malformations and intellectual disability Aicardi syndrome: Exome, genome and RNA-sequencing of a large cohort of 19 patients failed to detect the genetic cause Recurrent RTTN mutation leading to severe microcephaly, polymicrogyria and growth restriction Recurrent KIF2A mutations are responsible for classic lissencephaly Recurrent KIF5C mutation leading to frontal pachygyria without microcephaly Rare ACTG1 variants in fetal microlissencephaly De novo TUBB2B mutation causes fetal akinesia deformation sequence with microlissencephaly: An unusual presentation of tubulinopathy A novel recurrent LIS1 splice site mutation in classic lissencephaly Further refinement of COL4A1 and COL4A2 related cortical malformations Prenatal and postnatal presentations of corpus callosum agenesis with polymicrogyria caused By EGP5 mutation Delineating FOXG1 syndrome from congenital microcephaly to hyperkinetic encephalopathy Delineating FOXG1 syndrome: From congenital microcephaly to hyperkinetic encephalopathy." Thesis, Sorbonne Paris Cité, 2019. https://wo.app.u-paris.fr/cgi-bin/WebObjects/TheseWeb.woa/wa/show?t=2213&f=18201.

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Les malformations du cortex cérébral (MDC) représentent une cause importante de handicap et d'épilepsie pharmaco-résistante. Le séquençage à haut débit a permis une amélioration considérable de l'identification des bases moléculaires des MDC non syndromiques. Toutefois, certaines formes, notamment les MDC complexes, demeurent inexpliquées. Mon projet de thèse a pour objectif de progresser dans la compréhension des MDC complexes en utilisant deux modèles : les microlissencéphalies (MLIS) et le syndrome d'Aicardi (AIC), une forme syndromique particulière associant des malformations de l'oeil et

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12

Drusenheimer, Nadja. "The role of Lissencephaly-1 protein in male germ cell differentiation." Doctoral thesis, 2009. http://hdl.handle.net/11858/00-1735-0000-000D-F247-E.

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13

Belarde, James Anthony. "Development of a mouse model of a novel thin lissencephaly variant." Thesis, 2021. https://doi.org/10.7916/d8-t4g7-s810.

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The human neocortex is a highly sophisticated and organized brain structure that is thought to mediate some of the most complex cognitive functions in humans including language and abstract thought. As such, environmental and genetic insults to its normal structure or function can result in devastating neurological conditions including severe epilepsy and intellectual disability. Malformations of cortical development are an increasing collection of disorders that cause neocortical abnormalities due to impaired developmental processes. One recently identified disorder in this class is a thin li

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14

Kang, Yi-Ning, and 康以寧. "Role of CEP85L in the Cortical Development from Clinical Lissencephaly Cases." Thesis, 2018. http://ndltd.ncl.edu.tw/handle/e9j45j.

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碩士<br>國立陽明大學<br>腦科學研究所<br>106<br>Lissencephaly (smooth brain) is a brain formation disorder, which causes significant development delays since childhood. Recently, in a lissencephaly patient with epilepsy, we identified a novel CEP85L mutation site, which affects the expression of the centrosomal protein CEP85L. Previous studies have shown that centrosome function is crucial for neural stem cell proliferation and neuronal migration, both of which are major procedures of the cortical development. However, the function of CEP85L remains largely unexplored and how this CEP85L mutation leads to li

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15

Chao, Nian-Hsin, and 趙年欣. "Functions of a novel lissencephaly gene CEP170 in neuronal migration during brain development." Thesis, 2019. http://ndltd.ncl.edu.tw/handle/xd3hmq.

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碩士<br>國立陽明大學<br>腦科學研究所<br>107<br>Lissencephaly (smooth brain) is a human brain developmental disorder characterized by the lack of normal folding of the brain. Here we identified a nonsense mutation in the CEP170 gene, which results in the truncated of its product (p.R1259X), in a lissencephaly patient. CEP170 is localized on the subdistal appendage of the mother centriole and the centriole proximal end. In addition, CEP170 has also been reported to regulate the microtubule organization. However, the roles of CEP170 in brain development and how its p.R1259X mutation caused lissencephaly are st

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16

Drusenheimer, Nadja [Verfasser]. "The role of Lissencephaly-1 protein in male germ cell differentiation / vorgelegt von Nadja Drusenheimer." 2009. http://d-nb.info/996835458/34.

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17

Meaden, Christopher W. "Identification of Dynein Binding Sites in Budding Yeast Pac1/LIS1." 2010. https://scholarworks.umass.edu/theses/452.

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Pac1/LIS1, an essential tip tracking protein of the WD40 super family, is required to target cytoplasmic dynein to the plus ends of astral microtubules in budding yeast. Pac1/LIS1 protein is composed of two regions: a small coiled-coil domain and a highly conserved WD40 repeat domain. Because of in vivo data suggesting the motor domain of Dyn1 interacts with Pac1, I attempted to locate the region of Pac1/LIS1 essential for binding to Dyn1/HC by utilizing PCR-mediated site directed mutagenesis. PCR-generated site directed Pac1(S226P) mutant appears to bind Dyn1/HC, allowing it to localize to t

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