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Journal articles on the topic 'HSAN1'

Author: Grafiati

Published: 4 June 2021

Last updated: 2 February 2022

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1

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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2

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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3

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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4

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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5

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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6

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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7

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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8

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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9

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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10

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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11

Eichler, F. S., T. Hornemann, A. McCampbell, et al. "Overexpression of the Wild-Type SPT1 Subunit Lowers Desoxysphingolipid Levels and Rescues the Phenotype of HSAN1." Journal of Neuroscience 29, no. 46 (2009): 14646–51. http://dx.doi.org/10.1523/jneurosci.2536-09.2009.

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12

Ernst, Daniela, Sinéad M. Murphy, Karthik Sathiyanadan, et al. "Novel HSAN1 Mutation in Serine Palmitoyltransferase Resides at a Putative Phosphorylation Site That Is Involved in Regulating Substrate Specificity." NeuroMolecular Medicine 17, no. 1 (2015): 47–57. http://dx.doi.org/10.1007/s12017-014-8339-1.

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13

Wakil, Salma M., Dorota Monies, Samya Hagos, et al. "Exome Sequencing: Mutilating Sensory Neuropathy with Spastic Paraplegia due to a Mutation in FAM134B Gene." Case Reports in Genetics 2018 (December 12, 2018): 1–5. http://dx.doi.org/10.1155/2018/9468049.

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Hereditary sensory and autonomic neuropathies (HSANs) are a clinically and genetically heterogeneous group of disorders involving various sensory and autonomic dysfunctions. The most common symptoms of HSANs include loss of sensations of pain and temperature that frequently lead to chronic ulcerations in the feet and hands of the patient. In this case study, we present the clinical features and genetic characteristics of two affected individuals from two unrelated Saudi families presenting mutilating sensory loss and spastic paraplegia. We employed homozygosity mapping and exome sequencing whi

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14

Klein, C., G. Nicholson, T. Bird, et al. "DNA-Methyltransferase1 Mutation Screening in Hereditary Sensory Neuropathy 1 (HSAN1) with Dementia and Hearing Loss, Familial Frontotemporal Dementia and Alzheimer's Disease (S27.006)." Neurology 78, Meeting Abstracts 1 (2012): S27.006. http://dx.doi.org/10.1212/wnl.78.1_meetingabstracts.s27.006.

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15

Lynch-Godrei, Anisha, and Rashmi Kothary. "HSAN-VI." Neurology Genetics 6, no. 1 (2020): e389. http://dx.doi.org/10.1212/nxg.0000000000000389.

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Hereditary sensory and autonomic neuropathy (HSAN-VI) is a recessive genetic disorder that arises because of mutations in the human dystonin gene (DST, previously known as bullous pemphigoid antigen 1). Although initial characterization of HSAN-VI reported it as a sensory neuropathy that was lethal in infancy, we now know of a number of heterozygous mutations in DST that result in milder forms of the disease. Akin to what we observe in the mouse model dystonia musculorum (Dstdt), we believe that the heterogeneity of HSAN-VI can be attributed to a number of dystonin isoforms that the mutation a

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Yang, Hua, Jing Ru Zhang, Wentao Cao, Jin Zhen, and Ji Hong Wu. "Screw-Dislocation-Driven Hierarchical Superstructures of Ag-Ag2O-AgO Nanoparticles." Crystals 10, no. 12 (2020): 1084. http://dx.doi.org/10.3390/cryst10121084.

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Constructing multi-dimensional hierarchical superstructures has been, for a longtime, regarded as a promising strategy for modifying the physiochemical properties of nanomaterials. Guided by this rule, this work reports the synthesis of hierarchical superstructures of Ag-Ag2O-AgO nanoparticles (HSANs) using a convenient and surfactant-less photochemical method under 254 nm UV-irradiation. The formation of the HSANs superstructures is dominated by screw-dislocation-driven growth mechanism at low supersaturation condition. The structural evolution of the HSANs superstructures has been systematic

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17

Auer-Grumbach, Michaela, Jan Senderek, and Sabine Rudnik-Schöneborn. "Hereditary Neuropathies: Update 2017." Neuropediatrics 48, no. 04 (2017): 282–93. http://dx.doi.org/10.1055/s-0037-1603518.

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AbstractHereditary neuropathy is an umbrella term for a group of nonsyndromic conditions with a prevalence of approximately 1:2,500. In addition to the most frequent form, Charcot–Marie–Tooth's disease (CMT, or hereditary motor and sensory neuropathy), there are additional entities such as hereditary neuropathy with liability to pressure palsies (HNPP), hereditary motor neuropathies (HMNs), and hereditary sensory and autonomic neuropathies (HSANs). With the exception of HNPP, which is almost always caused by defects of the PMP22 gene, all other forms show genetic heterogeneity with altogether

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18

Alford, Kate A., Amy Slender, Lesley Vanes, et al. "Perturbed hematopoiesis in the Tc1 mouse model of Down syndrome." Blood 115, no. 14 (2010): 2928–37. http://dx.doi.org/10.1182/blood-2009-06-227629.

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Abstract Trisomy of human chromosome 21 (Hsa21) results in Down syndrome (DS), a disorder that affects many aspects of physiology, including hematopoiesis. DS children have greatly increased rates of acute lymphoblastic leukemia and acute megakaryoblastic leukemia (AMKL); DS newborns present with transient myeloproliferative disorder (TMD), a preleukemic form of AMKL. TMD and DS-AMKL almost always carry an acquired mutation in GATA1 resulting in exclusive synthesis of a truncated protein (GATA1s), suggesting that both trisomy 21 and GATA1 mutations are required for leukemogenesis. To gain furt

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Davis, Bradley J., and Sérgio Rosemberg. "HSAN IV and neurotrophins." Pediatric Neurology 13, no. 2 (1995): 180. http://dx.doi.org/10.1016/0887-8994(95)00141-2.

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20

Li, Yichen, Zhuo Xing, Tao Yu, Annie Pao, Marcel Daadi, and Y. Eugene Yu. "Coat Color-Facilitated Efficient Generation and Analysis of a Mouse Model of Down Syndrome Triplicated for All Human Chromosome 21 Orthologous Regions." Genes 12, no. 8 (2021): 1215. http://dx.doi.org/10.3390/genes12081215.

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Down syndrome (DS) is one of the most complex genetic disorders in humans and a leading genetic cause of developmental delays and intellectual disabilities. The mouse remains an essential model organism in DS research because human chromosome 21 (Hsa21) is orthologously conserved with three regions in the mouse genome. Recent studies have revealed complex interactions among different triplicated genomic regions and Hsa21 gene orthologs that underlie major DS phenotypes. Because we do not know conclusively which triplicated genes are indispensable in such interactions for a specific phenotype,

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Al Kaissi, Ali, Franz Grill, and Rudolf Ganger. "Unilateral lytic changes over the weight-bearing joint causing severe destruction of ankle joint (atypical Charcot joint) in a girl with congenital insensitivity to pain without anhidrosis (hereditary sensory and autonomic neuropathy type V): Case report and literature review." Pediatric Traumatology, Orthopaedics and Reconstructive Surgery 7, no. 1 (2019): 81–86. http://dx.doi.org/10.17816/ptors7181-86.

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Background. The presence of Charcot arthropathies, joint dislocations, infections and fractures in a child without evidence of neurological abnormality should give rise to a suspicion of congenital insensitivity to pain (hereditary sensory and autonomic neuropathy). Hereditary sensory and autonomic neuropathy (HSAN) is a rare syndrome characterized by congenital insensitivity to pain, temperature changes and by autonomic nerve formation disorders. HSAN is classified into five types: sensory radicular neuropathy (HSAN I), congenital sensory neuropathy (HSAN II), familial dysautonomia or Riley D

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Tilak, Kedar M., and Pratibha B. Shamkuwar. "A case of hereditary sensory and autonomic neuropathy type 4 presenting with chronic trophic ulcers." International Journal of Research in Medical Sciences 7, no. 11 (2019): 4399. http://dx.doi.org/10.18203/2320-6012.ijrms20195025.

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Hereditary Sensory and Autonomic Neuropathy (HSAN) is a rare group of diseases involving varying degrees of peripheral nervous system. It is classified into five main types. HSAN type 4 is associated with insensitivity to pain and temperature and anihidrosis. The method of this study was to authors present a case report of a 3 year-old boy with Hereditary Sensory and Autonomic Neuropathy Type 4 presenting with chronic ulcers. Conclusions of this study was to HSAN type IV is a rare condition. There is no definitive treatment available presently for this condition.

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Chen, Chao-Cheng, Jia-Je Li, Nai-Hua Guo, et al. "Evaluation of the Biological Behavior of a Gold Nanocore-Encapsulated Human Serum Albumin Nanoparticle (Au@HSANP) in a CT-26 Tumor/Ascites Mouse Model after Intravenous/Intraperitoneal Administration." International Journal of Molecular Sciences 20, no. 1 (2019): 217. http://dx.doi.org/10.3390/ijms20010217.

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Colorectal cancer is one of the major causes of cancer-related death in Taiwan and worldwide. Patients with peritoneal metastasis from colorectal cancer have reduced overall survival and poor prognosis. Hybrid protein-inorganic nanoparticle systems have displayed multifunctional applications in solid cancer theranostics. In this study, a gold nanocore-encapsulated human serum albumin nanoparticle (Au@HSANP), which is a hybrid protein-inorganic nanoparticle, and its radioactive surrogate 111In-labeled Au@HSANP (111In-Au@HSANP), were developed and their biological behaviors were investigated in

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Sommer, CA, and F. Henrique-Silva. "Trisomy 21 and Down syndrome: a short review." Brazilian Journal of Biology 68, no. 2 (2008): 447–52. http://dx.doi.org/10.1590/s1519-69842008000200031.

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Even though the molecular mechanisms underlying the Down syndrome (DS) phenotypes remain obscure, the characterization of the genes and conserved non-genic sequences of HSA21 together with large-scale gene expression studies in DS tissues are enhancing our understanding of this complex disorder. Also, mouse models of DS provide invaluable tools to correlate genes or chromosome segments to specific phenotypes. Here we discuss the possible contribution of HSA21 genes to DS and data from global gene expression studies of trisomic samples.

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K, Venkata Chalam, Chakravarthy B S, Anila Sunandini P, Divya K S, and Padmasri Y. "CONGENITAL SENSORY NEUROPATHY (HSAN II)." Journal of Evolution of Medical and Dental Sciences 4, no. 66 (2015): 11551–54. http://dx.doi.org/10.14260/jemds/2015/1665.

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Kugathasan, Umaiyal, Matthew R. B. Evans, Jasper M. Morrow, et al. "Development of MRC Centre MRI calf muscle fat fraction protocol as a sensitive outcome measure in Hereditary Sensory Neuropathy Type 1." Journal of Neurology, Neurosurgery & Psychiatry 90, no. 8 (2019): 895–906. http://dx.doi.org/10.1136/jnnp-2018-320198.

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ObjectivesHereditary sensory neuropathy type 1 (HSN1) is a rare, slowly progressive neuropathy causing profound sensory deficits and often severe motor loss. L-serine supplementation is a possible candidate therapy but the lack of responsive outcome measures is a barrier for undertaking clinical trials in HSN1. We performed a 12-month natural history study to characterise the phenotype of HSN1 and to identify responsive outcome measures.MethodsAssessments included Charcot-Marie-Tooth Neuropathy Score version 2 (CMTNSv2), CMTNSv2-Rasch modified, nerve conduction studies, quantitative sensory te

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S., Madhura, Sowrabha ., Manjunath ., and Savitha M. R. "Hereditary sensory autonomic neuropathy type V: a rare case report." International Journal of Contemporary Pediatrics 5, no. 2 (2018): 670. http://dx.doi.org/10.18203/2349-3291.ijcp20180579.

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Hereditary sensory autonomic neuropathy (HSAN) type V is a rare autosomal recessive condition caused by mutation in neurotrophic tyrosine kinase receptor type 1 gene located on chromosome 1 (1q21-1q22). It is characterized by pain insensitivity, partial anhydrosis without mental retardation and unimpaired touch and pressure sensitivity. Self-mutilation injury involving teeth, lips, tongue, ears, eyes, nose and fingers are invariable feature of this disorder. This rare disorder can be extremely challenging for the physicians as the symptoms like pain, tenderness is absent and hence most of the

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Smith, Lyndon J., Lucy Norcliffe-Kaufmann, Jose-Alberto Palma, Horacio Kaufmann, and Vaughan G. Macefield. "Impaired sensorimotor control of the hand in congenital absence of functional muscle spindles." Journal of Neurophysiology 120, no. 6 (2018): 2788–95. http://dx.doi.org/10.1152/jn.00528.2018.

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Patients with hereditary sensory and autonomic neuropathy type III (HSAN III) exhibit marked ataxia, including gait disturbances. We recently showed that functional muscle spindle afferents in the leg, recorded via intraneural microelectrodes inserted into the peroneal nerve, are absent in HSAN III, although large-diameter cutaneous afferents are intact. Moreover, there is a tight correlation between loss of proprioceptive acuity at the knee and the severity of gait impairment. We tested the hypothesis that manual motor performance is also compromised in HSAN III, attributed to the predicted a

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De Toma, Ilario, Cesar Sierra, and Mara Dierssen. "Meta-analysis of transcriptomic data reveals clusters of consistently deregulated gene and disease ontologies in Down syndrome." PLOS Computational Biology 17, no. 9 (2021): e1009317. http://dx.doi.org/10.1371/journal.pcbi.1009317.

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Trisomy of human chromosome 21 (HSA21) causes Down syndrome (DS). The trisomy does not simply result in the upregulation of HSA21--encoded genes but also leads to a genome-wide transcriptomic deregulation, which may differently affect each tissue and cell type as results of epigenetic mechanisms and protein-protein interactions. We performed a meta-analysis integrating the differential expression (DE) analyses of all publicly available transcriptomic datasets, both in human and mouse, comparing trisomic and euploid transcriptomes from different sources. We integrated all these data in a “DS ne

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Haribowo, A. Galih, J. Thomas Hannich, Agnès H. Michel, et al. "Cytotoxicity of 1-deoxysphingolipid unraveled by genome-wide genetic screens and lipidomics in Saccharomyces cerevisiae." Molecular Biology of the Cell 30, no. 22 (2019): 2814–26. http://dx.doi.org/10.1091/mbc.e19-07-0364.

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Hereditary sensory and autonomic neuropathy (HSAN) types IA and IC (IA/C) are caused by elevated levels of an atypical class of lipid named 1-deoxysphingolipid (DoxSL). How elevated levels of DoxSL perturb the physiology of the cell and how the perturbations lead to HSAN IA/C are largely unknown. In this study, we show that C26-1-deoxydihydroceramide (C26-DoxDHCer) is highly toxic to the cell, while C16- and C18-DoxDHCer are less toxic. Genome-wide genetic screens and lipidomics revealed the dynamics of DoxSL accumulation and DoxSL species responsible for the toxicity over the course of DoxSL

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Macefield, Vaughan G., Lucy Norcliffe-Kaufmann, Niamh Goulding, Jose-Alberto Palma, Cristina Fuente Mora, and Horacio Kaufmann. "Increasing cutaneous afferent feedback improves proprioceptive accuracy at the knee in patients with sensory ataxia." Journal of Neurophysiology 115, no. 2 (2016): 711–16. http://dx.doi.org/10.1152/jn.00148.2015.

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Hereditary sensory and autonomic neuropathy type III (HSAN III) features disturbed proprioception and a marked ataxic gait. We recently showed that joint angle matching error at the knee is positively correlated with the degree of ataxia. Using intraneural microelectrodes, we also documented that these patients lack functional muscle spindle afferents but have preserved large-diameter cutaneous afferents, suggesting that patients with better proprioception may be relying more on proprioceptive cues provided by tactile afferents. We tested the hypothesis that enhancing cutaneous sensory feedbac

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Puente-Bedia, Alba, María T. Berciano, Olga Tapia, Carmen Martínez-Cué, Miguel Lafarga, and Noemí Rueda. "Nuclear Reorganization in Hippocampal Granule Cell Neurons from a Mouse Model of Down Syndrome: Changes in Chromatin Configuration, Nucleoli and Cajal Bodies." International Journal of Molecular Sciences 22, no. 3 (2021): 1259. http://dx.doi.org/10.3390/ijms22031259.

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Down syndrome (DS) or trisomy of chromosome 21 (Hsa21) is characterized by impaired hippocampal-dependent learning and memory. These alterations are due to defective neurogenesis and to neuromorphological and functional anomalies of numerous neuronal populations, including hippocampal granular cells (GCs). It has been proposed that the additional gene dose in trisomic cells induces modifications in nuclear compartments and on the chromatin landscape, which could contribute to some DS phenotypes. The Ts65Dn (TS) mouse model of DS carries a triplication of 92 genes orthologous to those found in

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Stachorski, Lena, Dirk Heckl, Veera Raghavan Thangapandi, Aliaksandra Maroz, Dirk Reinhardt, and Jan-Henning Klusmann. "GATA1-Centered Genetic Network on Chromosome 21 Drives Down Syndrome Acute Megakaryoblastic Leukemia." Blood 124, no. 21 (2014): 4310. http://dx.doi.org/10.1182/blood.v124.21.4310.4310.

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Abstract Children with trisomy 21 (Down syndrome, DS) are predisposed to develop acute megakaryoblastic leukemia (DS-AMKL) as well as the antecedent transient leukemia (DS-TL). Mutations in the transcription factor GATA1 -leading to the exclusive expression of the shorter GATA1 isoform (GATA1s)- are present in nearly all children with DS-AMKL and DS-TL. GATA1s is both essential and sufficient to cause DS-TL in synergy with trisomy 21. To elucidate how the presence of an extra copy of chromosome 21 (hsa21) perturbs fetal hematopoiesis to provide a GATA1s-sensitive background during trisomy 21-a

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Prabhu, Shamit, Kevin Fortier, Lisa Newsome, and Uday N. Reebye. "Office-Based Anesthetic and Oral Surgical Management of a Child With Hereditary Sensory Autonomic Neuropathy Type IV: A Case Report." Anesthesia Progress 65, no. 3 (2018): 181–86. http://dx.doi.org/10.2344/anpr-65-03-07.

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Hereditary sensory and autonomic neuropathy type IV (HSAN IV), or congenital insensitivity to pain with anhidrosis, is an exceptionally rare genetic disorder that results in the complete loss of pain and temperature sensation as well as anhidrosis. Anesthetic management of these patients can be difficult because of significantly increased risks during general anesthesia. Literature on perioperative anesthetic management is typically written in the context of a hospital setting. As such, our case presents a unique report on the anesthetic management of a HSAN IV patient who presented for extrac

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Saribas, Ebru, Filiz Acun Kaya, Arzum Guler Dogru, and Mehmet Ufuk Aluclu. "Hereditary Sensory Neuropathy: A Case Report." International Dental Research 6, no. 1 (2016): 9. http://dx.doi.org/10.5577/intdentres.2016.vol6.no1.2.

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Aim: Hereditary sensory and autonomic neuropathy (HSAN) is a rare syndrome of unknown etiology that develops in early childhood. Five different types of HSAN have been described. This syndrome is characterized by the absence of pain and self-mutilation. Patients start to traumatize themselves at as young as 2–3 years of age. Subsequently, ulcers and stress fractures develop on their fingers and toes. Oral findings in HSAN patients include oral lesions after repetitive trauma, oral mucosa and tongue scars, self-dental extractions, dental infections, and premature tooth loss. Methodology:

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Ho, Kwo Wei David, and Nivedita U. Jerath. "V144D Mutation ofSPTLC1Can Present with Both Painful and Painless Phenotypes in Hereditary Sensory and Autonomic Neuropathies Type I." Case Reports in Genetics 2018 (October 18, 2018): 1–3. http://dx.doi.org/10.1155/2018/1898151.

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Hereditary sensory and autonomic neuropathy type I (HSAN I) is an autosomal dominant disease characterized by distal sensory loss, pain insensitivity, and autonomic disturbances. The major underlying causes of HSAN I are point mutations in the SPTLC1 gene. Patients with mutations in the SPTLC1 genes typically exhibit dense sensory loss and incidence of lancinating pain. Although most of these mutations produce sensory loss, it is unclear which mutations would lead to the painful phenotype. In this case series, we report that the V144D mutation in SPTLC1 gene may relate to both painful and pain

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Feki, Anis, and Youssef Hibaoui. "DYRK1A Protein, A Promising Therapeutic Target to Improve Cognitive Deficits in Down Syndrome." Brain Sciences 8, no. 10 (2018): 187. http://dx.doi.org/10.3390/brainsci8100187.

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Down syndrome (DS) caused by a trisomy of chromosome 21 (HSA21), is the most common genetic developmental disorder, with an incidence of 1 in 800 live births. Its phenotypic characteristics include intellectual impairment, early onset of Alzheimer’s disease, congenital heart disease, hypotonia, muscle weakness and several other developmental abnormalities, for the majority of which the pathogenetic mechanisms remain unknown. Among the numerous protein coding genes of HSA21, dual-specificity tyrosine-(Y)-phosphorylation-regulated kinase 1A (DYRK1A) encodes a proline-directed serine/threonine an

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Bryan, Christopher, Cory Rice, Michael Harkisheimer, David Schultz, and Emmanuel Skordalakes. "Structure of the Human Telomeric Stn1-Ten1 Complex." Acta Crystallographica Section A Foundations and Advances 70, a1 (2014): C1587. http://dx.doi.org/10.1107/s2053273314084125.

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The telomeric CST complex plays a central role in chromosome end capping and replication in budding yeast, and homologues of CST were identified recently in higher eukaryotes. The human CST (Ctc1, hStn1, hTen1) has been shown to play a role in telomere maintenance, but the extent of conservation across species has been in question because of low sequence identity (below 10% for Ctc1, the core subunit of the CST complex) and data suggesting subtle differences in function between complexes. We solved the high-resolution crystal structure of the human Stn1-Ten1 complex, which revealed striking st

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Duchon, Arnaud, Maria del Mar Muniz Moreno, Sandra Martin Lorenzo, et al. "Multi-influential genetic interactions alter behaviour and cognition through six main biological cascades in Down syndrome mouse models." Human Molecular Genetics 30, no. 9 (2021): 771–88. http://dx.doi.org/10.1093/hmg/ddab012.

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Abstract Down syndrome (DS) is the most common genetic form of intellectual disability caused by the presence of an additional copy of human chromosome 21 (Hsa21). To provide novel insights into genotype–phenotype correlations, we used standardized behavioural tests, magnetic resonance imaging and hippocampal gene expression to screen several DS mouse models for the mouse chromosome 16 region homologous to Hsa21. First, we unravelled several genetic interactions between different regions of chromosome 16 and how they contribute significantly to altering the outcome of the phenotypes in brain c

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III, Caird E. Rexroad. "Parallel RH mapping of BTA1 with HSA3 and HSA21." Mammalian Genome 10, no. 11 (1999): 1095–97. http://dx.doi.org/10.1007/s003359901168.

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KHALID, QURAT-UL-AIN. "Two Case Reports of Hereditary Sensory Autonomic Neuropathy Type IV." Journal of Islamabad Medical & Dental College 9, no. 4 (2020): 307–10. http://dx.doi.org/10.35787/jimdc.v9i4.595.

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Hereditary Sensory Autonomic Neuropathy type IV (HSAN-IV), previously known as congenital insensitivity to pain and anhidrosis (CIPA), is an uncommon condition that presents in infancy with repeated episodes of fever, loss of pain sensations and self-mutilation. We are reporting two patients from two different families. Both patients had history of recurrent fever, anhidrosis, and pain insensitivity and self-mutilation behavior. Both had delayed motor developmental milestones with cognitive impairment. Clinical diagnosis of HSAN type IV was made on the basis of history, clinical examination an

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Wieczorek, Stefan, Jonas Bergström, Maria Sääf, Judith Kötting, and Erik Iwarsson. "Expanded HSAN4 phenotype associated with two novel mutations in NTRK1." Neuromuscular Disorders 18, no. 8 (2008): 681–84. http://dx.doi.org/10.1016/j.nmd.2008.06.370.

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McKelvey, Laura. "Feel the pain!" Boolean: Snapshots of Doctoral Research at University College Cork, no. 2012 (January 1, 2012): 67–70. http://dx.doi.org/10.33178/boolean.2012.15.

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Insensitivity to pain with anhidrosis (CIPA) is a very rare condition that does what it says on the tin, people that have this condition cannot feel pain and cannot sweat (anhidrosis). It is one of a spectrum of conditions collectively known as hereditary sensory autonomic neuropathies (HSAN). This is a bit of a mouthful, so let’s break it down. HSAN means these are inherited pathologies or diseases that negatively affect our nervous system and how the nerves in our body work and results when the nerves in our body do not grow during development. This condition has a serious impact on those wh

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Manganelli, Fiore, Silvia Parisi, Maria Nolano, et al. "Novel mutations in dystonin provide clues to the pathomechanisms of HSAN-VI." Neurology 88, no. 22 (2017): 2132–40. http://dx.doi.org/10.1212/wnl.0000000000003992.

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Objective:To describe a second hereditary sensory autonomic neuropathy type VI (HSAN-VI) family harboring 2 novel heterozygous mutations in the dystonin (DST) gene and to evaluate their effect on neurons derived from induced pluripotent stem cells (iPSC).Methods:The family consisted of 3 affected siblings from nonconsanguineous healthy parents. All members underwent clinical and electrophysiologic evaluation and genetic analysis. Two patients underwent quantitative sensory testing (QST), cardiovascular reflexes, dynamic sweat test, and skin biopsy to evaluate somatic and autonomic cutaneous in

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Alford, Kate A., Lesley Vanes, Zhe Li, Stuart H. Orkin, Elizabeth M. C. Fisher, and Victor L. J. Tybulewicz. "A Myeloproliferative Disorder in the Tc1 Mouse Model of Down Syndrome." Blood 112, no. 11 (2008): 2790. http://dx.doi.org/10.1182/blood.v112.11.2790.2790.

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Abstract Down syndrome (DS) children have a one in ten chance of being diagnosed with leukemia within the first ten years of life. Acute megakaryoblastic leukemia (AMKL) is a subtype of acute myeloid leukemia (AML) that accounts for nearly 50% of these leukemias. AMKL is associated with a self-regressing neoplasia found almost exclusively in DS newborns called Transient Myeloproliferative Disorder (TMD). In all cases of TMD and DS-AMKL, leukemic blast cells show mutations in the gene encoding the hematopoietic transcription factor GATA1, resulting in production of a truncated form of the prote

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Bala, Usman, Melody Pui-Yee Leong, Chai Ling Lim, et al. "Ultrastructural study of sciatic nerve in Ts1Cje mouse model for Down syndrome: an implication of peripheral nerve defects in hypotonia." Neuroscience Research Notes 1, no. 2 (2018): 1–9. http://dx.doi.org/10.31117/neuroscirn.v1i2.17.

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Trisomy 21 is chromosomal abnormality that occurs as a result of triplication of human chromosome 21 (Hsa21), a condition also known as Down syndrome (DS). Beside the intellectual disability and systems anomalies, motor dysfunction due to hypotonia has also been characterised in individuals with DS and yet, its aetiology remains unclear. Ts1Cje, a mouse model for DS, has a partial trisomy (Mmu16) homology to Hsa21, is widely used for DS research. This study investigated the morphological changes and degree of myelination in sciatic nerves of the Ts1Cje mice using both light and transmission el

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O'Leary, Debra A., Melanie A. Pritchard, Dakang Xu, Ismail Kola, Paul J. Hertzog та Sika Ristevski. "Tissue-specific overexpression of the HSA21 gene GABPα: implications for DS". Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease 1739, № 1 (2004): 81–87. http://dx.doi.org/10.1016/j.bbadis.2004.09.005.

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Stankiewicz, Monika J., and John D. Crispino. "ETS2 and ERG promote megakaryopoiesis and synergize with alterations in GATA-1 to immortalize hematopoietic progenitor cells." Blood 113, no. 14 (2009): 3337–47. http://dx.doi.org/10.1182/blood-2008-08-174813.

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Abstract ETS2 and ERG are transcription factors, encoded on human chromosome 21 (Hsa21), that have been implicated in human cancer. People with Down syndrome (DS), who are trisomic for Hsa21, are predisposed to acute megakaryoblastic leukemia (AMKL). DS-AMKL blasts harbor a mutation in GATA1, which leads to loss of full-length protein but expression of the GATA-1s isoform. To assess the consequences of ETS protein misexpression on megakaryopoiesis, we expressed ETS2, ERG, and the related protein FLI-1 in wild-type and Gata1 mutant murine fetal liver progenitors. These studies revealed that ETS

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Altassan, Ruqaiah, Haya Al Saud, Tariq Ahmad Masoodi, et al. "Exome sequencing identifies novelNTRK1mutations in patients with HSAN-IV phenotype." American Journal of Medical Genetics Part A 173, no. 4 (2017): 1009–16. http://dx.doi.org/10.1002/ajmg.a.38120.

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Shaikh, Samiha S., Michael S. Nahorski, and C. Geoffrey Woods. "A third HSAN5 mutation disrupts the nerve growth factor furin cleavage site." Molecular Pain 14 (January 2018): 174480691880922. http://dx.doi.org/10.1177/1744806918809223.

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