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Dissertations / Theses on the topic 'HSAN1'

Author: Grafiati
Published: 4 June 2021
Last updated: 2 February 2022

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1

Karnam, Havisha Bindu. "Chemically Modified Oligonucleotides Silence Mutant SPTLC1 in an in vitro Model of HSAN1." eScholarship@UMMS, 2018. https://escholarship.umassmed.edu/gsbs_diss/994.

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Hereditary sensory and autonomic neuropathy type 1 (HSAN1) is a monogenic, autosomal dominantly inherited, neurodegenerative disorder resulting in loss of pain and temperature sensation in the distal limbs. HSAN1 is caused by point mutations in a single allele of serine palmitoyltransferase long chain base 1 (SPTLC1), resulting in production of neurotoxic deoxysphingolipids (dSLs). Oligonucleotide therapeutics (ONTs) can be used to downregulate the mutant allele and/or the wild type allele and thus are viable treatment strategies. We investigated the ability of two classes of ONTs, short inter
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2

Buchy, Philippe. "Le virus HSN1 au Cambodge." Paris 7, 2008. http://www.theses.fr/2008PA077125.

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Le virus H5N1 a été introduit pour la 1ere fois au Cambodge en décembre 2003. L'étude des infections humaines a montré que le virus H5N1 est responsable d'infections systémiques, qu'il peut être retrouvé à l’état infectieux dans le sang et au niveau du rectum. Il n'y a pas de mutation adaptative tissulaire sur la séquence de la HA. De rares mutations associées à une plus grande virulence ont été mises en évidence. Les virus H5N1 isolés au Cambodge ont une meilleure sensibilité aux inhibiteurs de la neuraminidase que des virus asiatiques plus anciens et comparable aux virus H1N1 sensibles circu
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3

Wu, Sik-wah. "A study of Huang Hsing Lun Hsang Xing /." Click to view the E-thesis via HKUTO, 1987. http://sunzi.lib.hku.hk/hkuto/record/B3194923X.

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4

Shaikh, Samiha Salwa. "Investigation into the molecular mechanisms of congenital insensitivity to pain." Thesis, University of Cambridge, 2018. https://www.repository.cam.ac.uk/handle/1810/279060.

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Congenital insensitivity to pain (CIP) is an extremely rare inherited disorder characterised by the inability to perceive physical pain from birth, resulting in a number of injuries including self-mutilation, repeated burns and fractures. A number of different genes underlying CIP have been identified over the years and all act principally either to direct development or function of nociceptors. In this dissertation, a number of unrelated families with CIP were recruited and novel missense and splicing mutations in NTRK1, NGF and SCN9A were identified in the cohort. The findings presented in t
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Minde, Jan. "Norrbottnian congenital insensitivity to pain." Doctoral thesis, Umeå universitet, Kirurgisk och perioperativ vetenskap, 2006. http://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-746.

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Congenital insensitivity to pain is a rare hereditary neuropathy. We present patients from a large family in Norrbotten, Sweden with a mutation in the nerve growth factor β gene (NGFß). Using a model of recessive inheritance, we identified an 8.3-Mb region on chromosome 1p11.2-p13.2 shared by the affected individuals in the family. Analysis of candidate genes in the disease-critical region revealed a mutation in the coding region of the NGFß gene specific for the disease haplotype. All three severely affected individuals were homozygous for the mutation. The disease haplotype was also observed
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6

Cheong, Fei Ying. "Regulation of lipid signaling at the Golgi by the lipid phosphatases hSAC1 and OCRL1." [S.l. : s.n.], 2007. http://nbn-resolving.de/urn:nbn:de:bsz:16-opus-71011.

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7

Cheong, Fei Ying [Verfasser], and Peter PD [Akademischer Betreuer] Mayinger. "Regulation of lipid signaling at the Golgi by the lipid phosphatases hSAC1 and OCRL1 / Fei Ying Cheong ; Betreuer: Peter PD Mayinger." Heidelberg : Universitätsbibliothek Heidelberg, 2007. http://d-nb.info/1178796647/34.

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8

黃秀顔 and Sau-ngan Wong. "Chou Ch'en (1381-1453) and his reorganization of the financial management in the Kiangnan region during the Hsan-te andCheng-t'ung Periods." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 1993. http://hub.hku.hk/bib/B31212001.

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9

Marechal, Damien. "Implication de la région Abcg1-U2af1 dans le syndrome de Down : effets de doses de la région et rôle du gène Cbs dans les défauts de mémorisation." Phd thesis, Université de Strasbourg, 2012. http://tel.archives-ouvertes.fr/tel-00856595.

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Le syndrome de Down (SD), ou Trisomie 21, est l'aneuploïdie la plus fréquente chez l'humain. Le désordre génomique est tel qu'aucun traitement unique ne peut pallier à tous les symptômes (retard mental, troubles moteurs...). C'est pourquoi l'utilisation de modèles murins permet d'étudier l'impact de régions partielles du Hsa21 dans l'apparition des déficits. Mon projet de thèse s'est orienté sur un locus télomérique encadré par les gènes Abcg1 et U2af1. Mes recherches se sont focalisées sur deux modèles, Ts1Yah et Ms2Yah, dédiés à cette région. L'étude de ces lignées, combinées à d'autres modè
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10

Norberg, Anna. "Genetics of pain : studies of migraine and pain insensitivity." Doctoral thesis, Umeå : Medical Biosciences Medicinsk biovetenskap, 2006. http://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-776.

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11

Pinto, Sara Isabel Calmeiro. "HSAN1E : um caso raro de surdez." Master's thesis, 2020. http://hdl.handle.net/10451/48980.

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Trabalho Final do Curso de Mestrado Integrado em Medicina, Faculdade de Medicina, Universidade de Lisboa, 2020<br>A surdez é a disfunção sensorial mais comum a nível mundial, tanto em crianças como em adultos. Para além das causas a que está mais frequentemente associada, podem estar na sua etio-patogénese entidades excecionalmente raras, como a Neuropatia Sensitiva Autonómica Hereditária do tipo 1E (HSAN1E). Esta é uma doença neurodegenerativa, resultante de uma mutação no gene que codifica a DNA-metiltransferase-1 (DNMT1), uma enzima envolvida na regulação de diversos processos celulares. R
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12

LAI, JUN-HONG, and 賴俊宏. "The strategies of forest management in aboriginal reservation:A case study of Tao-yuan hsien Fu-sing hsan." Thesis, 1987. http://ndltd.ncl.edu.tw/handle/46377543328159687342.

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13

林松. "Knowledge and Application for Managing an Elementary School:Review on my experiences at Chiau-Hsan Elementary school in the past 1155 days." Thesis, 2002. http://ndltd.ncl.edu.tw/handle/71196647032899243657.

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碩士<br>國立新竹師範學院<br>職業繼續教育研究所<br>91<br>Abstract The researcher himself was the central subject of this study, observing, studying, and self-introspecting his management process as principal of Chiau-Hsan Elementary School in City Hsin-Chu. The Three purposes of this study were as follows. 1.Describing his practical knowledge on education and how it transformed into actions, strategies, and actual functions in Chiau-Hsan Elementary School. 2.To state how the researcher leads the organization down the path of study during
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14

Chen, Yi-Ting, and 陳奕廷. "An Integrated GIS and Econometric Approach to Analyze Slopeland Use: An Application of the Slopeland Development in A-Li Shan Hsan." Thesis, 1996. http://ndltd.ncl.edu.tw/handle/78063086959063770561.

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碩士<br>國立臺灣大學<br>森林學系<br>84<br>The total area of slopeland of Taiwan, which is a mountainous isl and, withmany mountains is approximately 980000 hectares. In rec- ent years, the pressure of slopeland development had increased drastically due to rapid increases in population and incomein Taiwan. Many slopelands near by suburban areas had been subject to overexploitation which causes serious degradation of land and water resources. The land use of the aboriginal reserve around Shi Juo Village,
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15

Yang, Chun-Hao, and 楊俊豪. "The Influence of the Entry Mode of Taiwan’s Business Group’s International Investment on Key Success Factor (KSF) of Groups—The Case of Shie Hsang Industrial Co., Ltd." Thesis, 2011. http://ndltd.ncl.edu.tw/handle/11494767595254969644.

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碩士<br>亞洲大學<br>國際企業學系碩士在職專班<br>99<br>Business group is a collection of an integrative, supportive, serving, coordinating affiliated firms. This study analyzed the data to explore the relationship between entry mode and key success factor (KSF) of overseas investment groups. The result showed positive correlation between large investment scale and KSF within business group in Taiwan, and vice versa. When further considering the factors of host country characteristics, industry characteristics, human resources, a business group without possessing exquisite and follow-up plans will not be successf
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16

Bercier, Valérie. "Caractérisation fonctionnelle chez le poisson zèbre de l'isoforme protéique WNK1/HSN2 mutée dans la neuropathie héréditaire sensitive et autonome de type 2." Thèse, 2011. http://hdl.handle.net/1866/7108.

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La neuropathie humaine sensitive et autonome de type 2 (NHSA 2) est une pathologie héréditaire rare caractérisée par une apparition précoce des symptômes et une absence d’affectation motrice. Cette pathologie entraîne la perte de perception de la douleur, de la chaleur et du froid ainsi que de la pression (toucher) dans les membres supérieurs et inférieurs et est due à des mutations autosomales récessives confinées à l’exon HSN2 de la protéine kinase à sérine/thréonine WNK1 (with-no-lysine protein kinase 1). Cet exon spécifique permettrait de conférer une spécificité au système nerveux à l’iso
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17

(9010811), Allison B. Norvil. "Biochemical Investigation of the de novo DNA Methyltransferases DNMT3A and DNMT3B." Thesis, 2020.

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<p>DNA methylation is an epigenetic modification that is nearly ubiquitous. Eukaryotic DNA methylation contributes to the regulation of gene expression and maintaining genome integrity. In mammals, DNA methylation occurs primarily on the C5 carbon of cytosine in a CpG dinucleotide context and is catalyzed by the DNA methyltransferases, DNMT1, DNMT3A and DNMT3B. While <i>dnmt3a</i> and <i>dnmt3b</i> genes are highly homologous, the enzymes have distinct functions. Some previous reports suggested differences in the enzymatic behavior of DNMT3A and 3B, which could affect their biological roles.
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