Relevant bibliographies by topics / HSAN1

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  2. Dissertations / Theses
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Academic literature on the topic 'HSAN1'

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

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Journal articles on the topic "HSAN1"

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Seneczko, Franciszek. "Dziedziczne neuropatie czuciowe i autonomiczne – patogeneza, klinika i leczenie. Część II: typy II, IV i V." Dermatologia Praktyczna 10, no. 3 (2017): 5. http://dx.doi.org/10.26625/2017.10.3.01.

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Należące do grupy neuropatii czuciowych i autonomicznych (HSAN) typy II, IV i V wykazują zróżnicowania genetyczne, anatomiczne, fi zjologiczne oraz dotyczące obrazów klinicznych. Istotę HSAN2 stanowi głównie upośledzenie funkcji neuronów obwodowych; czuciowych i autonomicznych. Objawy kliniczne rozwijają się w okresie noworodkowym lub we wczesnym dzieciństwie. Również w dzieciństwie ujawnia się HSAN4, ze względu na dominujące objawy zwana także wrodzoną obojętnością na ból z anhydrozą. Z kolei HSAN5, klasyfi kowana jako obojętność na ból z częściową anhydrozą, wykazuje objawy kliniczne podobne
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Fridman, Vera, Saranya Suriyanarayanan, Peter Novak, et al. "Randomized trial of l-serine in patients with hereditary sensory and autonomic neuropathy type 1." Neurology 92, no. 4 (2019): e359-e370. http://dx.doi.org/10.1212/wnl.0000000000006811.

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ObjectiveTo evaluate the safety and efficacy of l-serine in humans with hereditary sensory autonomic neuropathy type I (HSAN1).MethodsIn this randomized, placebo-controlled, parallel-group trial with open-label extension, patients aged 18–70 years with symptomatic HSAN1 were randomized to l-serine (400 mg/kg/day) or placebo for 1 year. All participants received l-serine during the second year. The primary outcome measure was the Charcot-Marie-Tooth Neuropathy Score version 2 (CMTNS). Secondary outcomes included plasma sphingolipid levels, epidermal nerve fiber density, electrophysiologic measu
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Beattie, Ashley E., Sita D. Gupta, Lenka Frankova, et al. "The Pyridoxal 5′-Phosphate (PLP)-Dependent Enzyme Serine Palmitoyltransferase (SPT): Effects of the Small Subunits and Insights from Bacterial Mimics of Human hLCB2a HSAN1 Mutations." BioMed Research International 2013 (2013): 1–13. http://dx.doi.org/10.1155/2013/194371.

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The pyridoxal 5′-phosphate (PLP)-dependent enzyme serine palmitoyltransferase (SPT) catalyses the first step ofde novosphingolipid biosynthesis. The core human enzyme is a membrane-bound heterodimer composed of two subunits (hLCB1 and hLCB2a/b), and mutations in both hLCB1 (e.g., C133W and C133Y) and hLCB2a (e.g., V359M, G382V, and I504F) have been identified in patients with hereditary sensory and autonomic neuropathy type I (HSAN1), an inherited disorder that affects sensory and autonomic neurons. These mutations result in substrate promiscuity, leading to formation of neurotoxic deoxysphing
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Hornemann, Thorsten, Heiko Bode, and Daniela Ernst. "Regulation of sphingolipid de novo synthesis – lessons from the HSAN1 mutants." Chemistry and Physics of Lipids 164 (August 2011): S26. http://dx.doi.org/10.1016/j.chemphyslip.2011.05.085.

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Bode, Heiko, Florence Bourquin, Saranya Suriyanarayanan, et al. "HSAN1 mutations in serine palmitoyltransferase reveal a close structure–function–phenotype relationship." Human Molecular Genetics 25, no. 5 (2015): 853–65. http://dx.doi.org/10.1093/hmg/ddv611.

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Hornemann, T., A. Penno, and A. von Eckardstein. "The accumulation of two atypical sphingolipids cause hereditary sensory neuropathy type 1 (HSAN1)." Chemistry and Physics of Lipids 154 (August 2008): S62. http://dx.doi.org/10.1016/j.chemphyslip.2008.05.170.

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Penno, A., F. Eichler, and T. Hornemann. "Accumulation of two atypical sphingolipids underlies the pathology in hereditary sensory neuropathy HSAN1." Chemistry and Physics of Lipids 160 (August 2009): S11. http://dx.doi.org/10.1016/j.chemphyslip.2009.06.120.

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Lowther, Jonathan, James H. Naismith, Teresa M. Dunn, and Dominic J. Campopiano. "Structural, mechanistic and regulatory studies of serine palmitoyltransferase." Biochemical Society Transactions 40, no. 3 (2012): 547–54. http://dx.doi.org/10.1042/bst20110769.

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SLs (sphingolipids) are composed of fatty acids and a polar head group derived from L-serine. SLs are essential components of all eukaryotic and many prokaryotic membranes but S1P (sphingosine 1-phosphate) is also a potent signalling molecule. Recent efforts have sought to inventory the large and chemically complex family of SLs (LIPID MAPS Consortium). Detailed understanding of SL metabolism may lead to therapeutic agents specifically directed at SL targets. We have studied the enzymes involved in SL biosynthesis; later stages are species-specific, but all core SLs are synthesized from the co
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Klein, C. J., T. Bird, N. Ertekin-Taner, et al. "DNMT1 mutation hot spot causes varied phenotypes of HSAN1 with dementia and hearing loss." Neurology 80, no. 9 (2013): 824–28. http://dx.doi.org/10.1212/wnl.0b013e318284076d.

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David, W., A. L. Oaklander, J. Pan, P. Novak, R. Brown, and F. Eichler. "Neurophysiology and Intraepidermal Nerve Fiber Density in Hereditary Sensory and Autonomic Neuropathy Type 1 (HSAN1) (P03.202)." Neurology 78, Meeting Abstracts 1 (2012): P03.202. http://dx.doi.org/10.1212/wnl.78.1_meetingabstracts.p03.202.

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Dissertations / Theses on the topic "HSAN1"

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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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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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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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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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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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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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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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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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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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Books on the topic "HSAN1"

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Singh, Ajit. Hsan. Satwant Book Agency, 1992.

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Singh, Bhagat, Alban Latremoliere, and Michael Costigan. Congenital insensitivity to pain. Edited by Paul Farquhar-Smith, Pierre Beaulieu, and Sian Jagger. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780198834359.003.0078.

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The landmark paper discussed in this chapter is ‘Congenital insensitivity to pain. A clinical, genetic and neurophysiological study of four children from the same family’, published by D. C. Thrush in 1973. The study of patients with congenital conditions that result in pain insensitivity has been invaluable in helping define the molecular mechanisms of sensory processing. These patients share a major defining phenotype (they feel little or no pain from birth), although they often have differing subtle symptoms which belie a host of separate conditions that we have now started to recognize wit
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Book chapters on the topic "HSAN1"

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Metze, Dieter, Vanessa F. Cury, Ricardo S. Gomez, et al. "HSAN." In Encyclopedia of Molecular Mechanisms of Disease. Springer Berlin Heidelberg, 2009. http://dx.doi.org/10.1007/978-3-540-29676-8_5138.

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De Jonghe, P., and G. KuhlenbÄumer. "Hereditary sensory and autonomic neuropathies (HSAN)." In Hereditary Peripheral Neuropathies. Steinkopff, 2005. http://dx.doi.org/10.1007/3-7985-1586-7_9.

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"HSAN5." In Encyclopedia of Signaling Molecules. Springer International Publishing, 2018. http://dx.doi.org/10.1007/978-3-319-67199-4_105215.

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"Sensory Neuropathy 1 (HSN1)." In Encyclopedia of Genetics, Genomics, Proteomics and Informatics. Springer Netherlands, 2008. http://dx.doi.org/10.1007/978-1-4020-6754-9_15378.

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"Hereditary Sensory and Autonomic Neuropathy Type IV, HSAN IV, HSAN 4." In Encyclopedia of Pain. Springer Berlin Heidelberg, 2013. http://dx.doi.org/10.1007/978-3-642-28753-4_100916.

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"Hereditary Sensory and Autonomic Neuropathy (HSAN)." In Encyclopedia of Pain. Springer Berlin Heidelberg, 2013. http://dx.doi.org/10.1007/978-3-642-28753-4_100915.

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Ikeya, Chie. "The Self-Indulgent Khit hsan thu." In Refiguring Women, Colonialism, and Modernity in Burma. University of Hawai'i Press, 2011. http://dx.doi.org/10.21313/hawaii/9780824834616.003.0007.

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"Appendix 2. HSAN and BPP Demands." In Pulse of the People. University of Pennsylvania Press, 2015. http://dx.doi.org/10.9783/9780812291131-009.

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"Haematology Society of Australia and New Zealand (HSANZ)." In The Grants Register 2019. Palgrave Macmillan UK, 2018. http://dx.doi.org/10.1007/978-1-349-95810-8_551.

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KLEIN, CHRISTOPHER J., and PETER J. DYCK. "HSANs: Clinical Features, Pathologic Classification, and Molecular Genetics." In Peripheral Neuropathy. Elsevier, 2005. http://dx.doi.org/10.1016/b978-0-7216-9491-7.50081-8.

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Conference papers on the topic "HSAN1"

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Kong, Yawei, Lu Zhang, Can Ma, and Cong Cao. "HSAN: A Hierarchical Self-Attention Network for Multi-Turn Dialogue Generation." In ICASSP 2021 - 2021 IEEE International Conference on Acoustics, Speech and Signal Processing (ICASSP). IEEE, 2021. http://dx.doi.org/10.1109/icassp39728.2021.9413753.

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Triplett, James D., Garth Nicholson, and Con Yiannikas. "113 Clinical and neurophysiological improvement in Hereditary sensory and autonomic neuropathy type I (HSAN-1) following high dose serine therapy." In ANZAN Annual Scientific Meeting 2021 Abstracts. BMJ Publishing Group Ltd, 2021. http://dx.doi.org/10.1136/bmjno-2021-anzan.113.

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