Journal articles: 'Usher'

1

Crawford, Doreen. "Usher syndrome." Nursing Children and Young People 30, no. 6 (November 8, 2018): 18. http://dx.doi.org/10.7748/ncyp.30.6.18.s16.

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Castiglione, Alessandro, and Claes Möller. "Usher Syndrome." Audiology Research 12, no. 1 (January 11, 2022): 42–65. http://dx.doi.org/10.3390/audiolres12010005.

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Usher syndrome (USH) is the most common genetic condition responsible for combined loss of hearing and vision. Balance disorders and bilateral vestibular areflexia are also observed in some cases. The syndrome was first described by Albrecht von Graefe in 1858, but later named by Charles Usher, who presented a large number of cases with hearing loss and retinopathy in 1914. USH has been grouped into three main clinical types: 1, 2, and 3, which are caused by mutations in different genes and are further divided into different subtypes. To date, nine causative genes have been identified and confirmed as responsible for the syndrome when mutated: MYO7A, USH1C, CDH23, PCDH15, and USH1G (SANS) for Usher type 1; USH2A, ADGRV1, and WHRN for Usher type 2; CLRN1 for Usher type 3. USH is inherited in an autosomal recessive pattern. Digenic, bi-allelic, and polygenic forms have also been reported, in addition to dominant or nonsyndromic forms of genetic mutations. This narrative review reports the causative forms, diagnosis, prognosis, epidemiology, rehabilitation, research, and new treatments of USH.

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Jatana, Kris R., Denise Thomas, Lisa Weber, Marilyn B. Mets, Josh B. Silverman, and Nancy M. Young. "Usher Syndrome." Otology & Neurotology 34, no. 3 (April 2013): 484–89. http://dx.doi.org/10.1097/mao.0b013e3182877ef2.

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Kimberling, William J., Claes G. Moller, Sandra L. H. Davenport, Gunnar Lund, Timothy J. Grissom, Ira Priluck, Valorie White, Michael D. Weston, Karen Biscone-Halterman, and Patrick E. Brookhouser. "Usher Syndrome." Laryngoscope 99, no. 1 (January 1989): 66???72. http://dx.doi.org/10.1288/00005537-198901000-00013.

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M??ller, Claes G., William J. Kimberling, Sandra L. H. Davenport, Ira Priluck, Valorie White, Karen Biscone-Halterman, Lars M. ??dkvist, Patrick E. Brookhouser, Gunnar Lund, and Timothy J. Grissom. "Usher Syndrome." Laryngoscope 99, no. 1 (January 1989): 73???79. http://dx.doi.org/10.1288/00005537-198901000-00014.

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Yu, Xiaodi, Ganeshram R. Visweswaran, Zoe Duck, Srisailam Marupakula, Sheila MacIntyre, Stefan D. Knight, and Anton V. Zavialov. "Caf1A usher possesses a Caf1 subunit-like domain that is crucial for Caf1 fibre secretion." Biochemical Journal 418, no. 3 (February 25, 2009): 541–51. http://dx.doi.org/10.1042/bj20080992.

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The chaperone/usher pathway controls assembly of fibres of adhesive organelles of Gram-negative bacteria. The final steps of fibre assembly and fibre translocation to the cell surface are co-ordinated by the outer membrane proteins, ushers. Ushers consist of several soluble periplasmic domains and a single transmembrane β-barrel. Here we report isolation and structural/functional characterization of a novel middle domain of the Caf1A usher from Yersinia pestis. The isolated UMD (usher middle domain) is a highly soluble monomeric protein capable of autonomous folding. A 2.8 Å (1 Å=0.1 nm) resolution crystal structure of UMD revealed that this domain has an immunoglobulin-like fold similar to that of donor-strand-complemented Caf1 fibre subunit. Moreover, these proteins displayed significant structural similarity. Although UMD is in the middle of the predicted amphipathic β-barrel of Caf1A, the usher still assembled in the membrane in the absence of this domain. UMD did not bind Caf1M–Caf1 complexes, but its presence was shown to be essential for Caf1 fibre secretion. The study suggests that UMD may play the role of a subunit-substituting protein (dummy subunit), plugging or priming secretion through the channel in the Caf1A usher. Comparison of isolated UMD with the recent structure of the corresponding domain of PapC usher revealed high similarity of the core structures, suggesting a universal structural adaptation of FGL (F1G1 long) and FGS (F1G1 short) chaperone/usher pathways for the secretion of different types of fibres. The functional role of two topologically different states of this plug domain suggested by structural and biochemical results is discussed.

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7

Moskovitz, Herb. "Review of Usher." Edgar Allan Poe Review 9, no. 2 (2008): 89–90. http://dx.doi.org/10.2307/41506302.

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8

Verma, Anupam, and O. P. Shukla. "Usher’ S Syndrome." Indian Journal of Otolaryngology and Head and Neck Surgery 56, no. 2 (April 2004): 119–20. http://dx.doi.org/10.1007/bf02974312.

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9

Norte, Maria Carolina Braga, Antônio José Cortez Juares, José Carlos Nardi, Alfredo Rafael Dell’Aringa, and Kazue Kobari. "Síndrome de Usher." Revista Brasileira de Otorrinolaringologia 73, no. 4 (August 2007): 574. http://dx.doi.org/10.1590/s0034-72992007000400020.

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10

Kimberling, William, and Ann Lindenmuth. "The Usher Syndromes." Seminars in Hearing 27, no. 3 (August 2006): 182–92. http://dx.doi.org/10.1055/s-2006-947285.

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11

Read, Raymond C. "Usher?s Selvage." Hernia 9, no. 1 (December 2, 2004): 106. http://dx.doi.org/10.1007/s10029-004-0303-9.

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12

Keats, Bronya J. B., and David P. Corey. "The Usher syndromes." American Journal of Medical Genetics 89, no. 3 (September 24, 1999): 158–66. http://dx.doi.org/10.1002/(sici)1096-8628(19990924)89:3<158::aid-ajmg6>3.0.co;2-#.

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13

Pennings, Ronald J. E., August F. Deutman, Randall R. Fields, William J. Kimberling, Patrick L. M. Huygen, and W. R. J. Cremers. "Usher Syndrome Type III Can Mimic other Types of Usher Syndrome." Annals of Otology, Rhinology & Laryngology 112, no. 6 (June 2003): 525–30. http://dx.doi.org/10.1177/000348940311200608.

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Clinical and genetic characteristics are presented of 2 patients from a Dutch Usher syndrome type III family who have a new homozygous USH3 gene mutation: 149–152delCAGG + insTGTCCAAT. One individual (IV: 1) is profoundly hearing impaired and has normal vestibular function and retinitis punctata albescens (RPA). The other individual is also profoundly hearing impaired, but has well-developed speech, vestibular areflexia, and retinitis pigmentosa sine pigmento (RPSP). These findings suggest that Usher syndrome type III can be clinically misdiagnosed as either Usher type I or II; that Usher syndrome patients who are profoundly hearing impaired and have normal vestibular function should be tested for USH3 mutations; and that RPA and RPSP can occur as fundoscopic manifestations of pigmentary retinopathy in Usher syndrome.

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14

Wang, Shu Ren, and Hai Qing Zhang. "Ground Settlement Prediction Model and its Application for Tunneling Engineering above Mined-Out Regions." Advanced Materials Research 524-527 (May 2012): 592–97. http://dx.doi.org/10.4028/www.scientific.net/amr.524-527.592.

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Although many types of curve fitting methods were used in ground settlement prediction, it is due to every prediction method was not perfect, they have some defects and shortcomings to some extent and ground settlement prediction be up against huge challenge. Usher model, being used for economic and resources prediction, is introduced to ground settlement prediction as a new method, and its mathematics features are also analyzed. After comparative analysis, Origin software is selected for parameters solution of Usher model with an explanation of the solving process. Based on the Shipogou tunnel project which through the mined-out regions in Qingdao-Yinchuan highway, the Usher model for ground settlement is established combining to the field data, of which the parameters are solved with the user-defined function and nonlinear tool of Origin. The predicting results being compared with that of grey model and hyperbolic model, it shows that Usher model is of good adaptability, high accuracy, simple and coinciding well with measured data.

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15

Haeng-Joon, Choi. "Usher, Placeholder and Cubism." Journal of the New Korean Philosophical Association 93 (July 31, 2018): 327–47. http://dx.doi.org/10.20433/jnkpa.2018.07.93.327.

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16

Jouret, Guillaume, Céline Poirsier, Marta Spodenkiewicz, Clémence Jaquin, Evan Gouy, Carl Arndt, Marc Labrousse, Dominique Gaillard, Martine Doco-Fenzy, and Anne-Sophie Lebre. "Genetics of Usher Syndrome." Otology & Neurotology 40, no. 1 (January 2019): 121–29. http://dx.doi.org/10.1097/mao.0000000000002054.

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17

Hager, Paul. "Robin Usher on Experience." Educational Philosophy and Theory 31, no. 1 (January 1999): 63–75. http://dx.doi.org/10.1111/j.1469-5812.1999.tb00374.x.

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18

GOLDOWSKY, SEEBERT J. "More on Usher Parsons." Journal of the History of Medicine and Allied Sciences 50, no. 2 (1995): 274–79. http://dx.doi.org/10.1093/jhmas/50.2.274.

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19

Saihan, Zubin, Andrew R. Webster, Linda Luxon, and Maria Bitner-Glindzicz. "Update on Usher syndrome." Current Opinion in Neurology 22, no. 1 (February 2009): 19–27. http://dx.doi.org/10.1097/wco.0b013e3283218807.

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20

Bolz, H. J. "Genetik des Usher-Syndroms." Der Ophthalmologe 106, no. 6 (June 2009): 496–504. http://dx.doi.org/10.1007/s00347-008-1887-8.

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21

Algouti, Zineb, El mehdi El filali, Houda Bezza, Mossab Tayane, Iliass Benchafai, Mohamed Kriet, and Fouad Elasri. "Usher Syndrome: Clinical Presentation." Scholars Journal of Medical Case Reports 11, no. 12 (December 20, 2023): 2228–31. http://dx.doi.org/10.36347/sjmcr.2023.v11i12.016.

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Usher syndrome is a genetic disorder that causes a dual sensory deprivation resulting in deaf-blindness world widely. We report the case of two brothers from a non-consanguineous marriage presenting with pigmentary retinopathy and congenital hearing loss, suggesting usher syndrome. This syndrome is divided into three subtypes that are clinically and genetically different. While many promising treatments are under investigation, no treatment is approved to this date. Audiological rehabilitation, as well as psychological follow up, are essential to improve patients’ life quality.

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22

Pennings, Ronald J. E., Patrick L. M. Huygen, Dana J. Orten, Mariette Wagenaar, Annelies Van Aarem, Hannie Kremer, William J. Kimberling, Cor W. R. J. Cremers, and August F. Deutman. "Evaluation of visual impairment in Usher syndrome 1b and Usher syndrome 2a." Acta Ophthalmologica Scandinavica 82, no. 2 (March 23, 2004): 131–39. http://dx.doi.org/10.1111/j.1600-0420.2004.00234.x.

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23

Tirkey, Eva Rani, and Sujata Lakhtakia. "Usher Syndrome: A Rare Case." UP Journal of Ophthalmology 11, no. 03 (November 22, 2023): 92–94. http://dx.doi.org/10.56692/upjo.2023110307.

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Usher syndrome is a rare heterogenous autosomal recessive genetic disorder with features of visual impairment due to retinitis pigmentosa and hearing loss. Other names for it include Hallgren syndrome, Usher-Hallgren syndrome, retinitis pigmentosa-dysacusis syndrome, and dystrophia retinae dysacusis syndrome.1,2 Usher syndrome represents a genetically diverse condition that involves both early onset sensorineural hearing loss and retinal pathology. While reports of disease prevalence vary, the condition has been estimated to occur in three in 100, 000 individuals.

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24

Astuto, Lisa M., Michael D. Weston, Carol A. Carney, Denise M. Hoover, Cor W. R. J. Cremers, Mariette Wagenaar, Claes Moller, et al. "Genetic Heterogeneity of Usher Syndrome: Analysis of 151 Families with Usher Type I." American Journal of Human Genetics 67, no. 6 (December 2000): 1569–74. http://dx.doi.org/10.1086/316889.

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25

Stein, RA. "First evidence for a molecular link between Usher 1 and Usher 2 syndromes." Clinical Genetics 69, no. 6 (May 22, 2006): 483–85. http://dx.doi.org/10.1111/j.1399-0004.2006.0623c.x.

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26

Zhang, Hong. "The Fall of the House of Usher: The Collapse of Roderick’s Nostalgia Mechanism." English Language and Literature Studies 11, no. 4 (November 4, 2021): 43. http://dx.doi.org/10.5539/ells.v11n4p43.

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As an attractive Gothic tale of Edgar Allan Poe, The Fall of the House of Usher creates a mysterious and violent fall, leaving multiple interpretations on why the house of Usher collapsed suddenly. From the perspective of Roderick, the last inheritor of aristocratic Usher, the fall of Usher is more like his shaky nostalgia mechanism in front of discontinued situation. In his seemingly stable nostalgia mechanism, Mansion Usher, the narrator and Lady Madeline play core roles in meeting the needs of avoidance, attachment and idealization to construct a seemingly stable nostalgia mechanism. With the weird fall of Usher, Poe probes into the irrational nature of human, permeating his attention to warn the significance of balancing comfortable dream and reality.

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27

Shook, David. "Usher by B. H. Fairchild." World Literature Today 84, no. 1 (2010): 72–73. http://dx.doi.org/10.1353/wlt.2010.0324.

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28

Abeshi, Andi, Alice Bruson, Tommaso Beccari, Munis Dundar, Leonardo Colombo, and Matteo Bertelli. "Genetic testing for Usher syndrome." EuroBiotech Journal 1, s1 (October 27, 2017): 108–10. http://dx.doi.org/10.24190/issn2564-615x/2017/s1.34.

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Abstract We studied the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for Usher syndrome (USH). USH is mostly transmitted in an autosomal recessive manner and is caused by variations in the ADGRV1, CDH23, CIB2, CLRN1, HARS, MYO7A, PCDH15, PDZD7, USH1C, USH1G, USH2A, WHRN genes. Prevalence is estimated to be 1:30,000. Clinical diagnosis is based on audiogram, vestibular tests, visual acuity test, fundus examination, color test, optical coherence tomography and electroretinography. The genetic test is useful for confirming diagnosis, and for differential diagnosis, couple risk assessment and access to clinical trials.

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29

Liarth, Josilene de Carvalho Soares, Ednaldo Atem Gonçalves, João Orlando Ribeiro Gonçalves, Daniela Martins Neiva, and Fernando Antonio de Macêdo Leal. "Síndrome de Usher: características clínicas." Arquivos Brasileiros de Oftalmologia 65, no. 4 (August 2002): 457–61. http://dx.doi.org/10.1590/s0004-27492002000400012.

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30

Kurtenbach, Anne, Gesa Hahn, Christoph Kernstock, Stephanie Hipp, Ditta Zobor, Katarina Stingl, Susanne Kohl, et al. "Usher Syndrome and Color Vision." Current Eye Research 43, no. 10 (July 30, 2018): 1295–301. http://dx.doi.org/10.1080/02713683.2018.1501804.

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31

KIMBERLING, W. J., M. D. WESTON, S. PIEKE DAHL, J. B. KENYON, Y. Y. SHUGART, C. MOLLER, S. L. H. DAVENPORT, A. MARTINI, M. MILANI, and R. J. SMITH. "Genetic Studies of Usher Syndrome." Annals of the New York Academy of Sciences 630, no. 1 Genetics of H (September 1991): 167–75. http://dx.doi.org/10.1111/j.1749-6632.1991.tb19585.x.

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32

Tazetdinov, A. M., L. U. Dzehemileva, and E. K. Khusnutdinova. "Molecular genetics of usher syndrome." Russian Journal of Genetics 44, no. 6 (June 2008): 627–34. http://dx.doi.org/10.1134/s102279540806001x.

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33

Loundon, Natalie, Sandrine Marlin, Denise Busquet, Françoise Denoyelle, Gilles Roger, Francis Renaud, and Erea Noel Garabedian. "Usher Syndrome and Cochlear Implantation." Otology & Neurotology 24, no. 2 (March 2003): 216–21. http://dx.doi.org/10.1097/00129492-200303000-00015.

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34

Connor, Edward F. "Wildlife Conservation Evaluation.Michael B. Usher." Quarterly Review of Biology 62, no. 3 (September 1987): 338. http://dx.doi.org/10.1086/415582.

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35

Clark, J. C. "Alan Usher OBE 1930–1998." Science & Justice 38, no. 4 (October 1998): 274–75. http://dx.doi.org/10.1016/s1355-0306(98)72124-0.

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36

Eudy, J. D., and J. Sumegi. "Molecular genetics of Usher syndrome." Cellular and Molecular Life Sciences (CMLS) 56, no. 3-4 (October 1, 1999): 258–67. http://dx.doi.org/10.1007/s000180050427.

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37

Shekerinov, Natasha Trpevska, Emilija Gjoshevska Dashtevska, and Maja Ivanova. "OCULAR ASPECTS OF USHER SYNDROM." SANAMED 15, no. 1 (May 27, 2020): 51. http://dx.doi.org/10.24125/sanamed.v15i1.400.

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38

Maubaret, Cécilia, Jean-Michel Griffoin, Bernard Arnaud, and Christian P. Hamel. "Novel Mutations inMYO7AandUSH2Ain Usher Syndrome." Ophthalmic Genetics 26, no. 1 (January 2005): 25–29. http://dx.doi.org/10.1080/13816810590918118.

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39

Keats, Bronya J. B., and Sevtap Savas. "Genetic heterogeneity in Usher syndrome." American Journal of Medical Genetics 130A, no. 1 (2004): 13–16. http://dx.doi.org/10.1002/ajmg.a.30052.

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40

Fandiño Cardenas, Marcela, Silvia Patricia Delgado Caballero, and Gianmarco Camelo Pardo. "Síndrome de Usher: importancia clínica." Revista Peruana de Ciencias de la Salud 5, no. 2 (June 6, 2023): 409. http://dx.doi.org/10.37711/rpcs.2023.5.1.409.

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Introducción. El síndrome de Usher es una causa genética común de alteraciones visual y auditiva, caracterizada por perdida audición, retinitis pigmentosa y arreflexia vestibular. Se observa en un 50% en los pacientes menores de 65 años. Su sospecha diagnostica es principalmente clínica dado que las neuroimagenes no muestran manifestaciones evidentes y la confirmación se realiza mediante el estudio de panel genético. Es crucial la evaluación temprana (neonatal) permitiendo la detección oportuna. Objetivo. Describir la importancia del síndrome de Usher y sus implicaciones clínicas en los diferentes pacientes con patología auditiva y visual, priorizando el diagnostico, abordaje y tratamiento. Métodos. Se realizó na búsqueda de la literatura en las bases de datos de PubMed y Scielo orientada hacia artículos actualizados y relevantes en inglés o español publicados en los últimos 5 años. Se evaluó a relación entre el síndrome de Usher como causa de alteraciones visuales y auditivas permitiendo describir importancia, diagnóstico y tratamiento. Resultados. Diferentes estudios evidencian la relación directa entre el síndrome de Usher y la perdida visual y auditiva asociado a múltiples malformaciones genéticas. El tratamiento está enfocado a terapia rehabilitación permitiendo al individuo adaptarse con el medio ambiente y reducir otras comorbilidades asociadas. Se deben continuar los estudios genéticos permitiendo un tratamiento eficaz de esta patología. Conclusiones. El síndrome de Usher es una causa importante de disfunción visual y auditiva, actualmente se continúan los estudios en búsqueda de un tratamiento efectivo sin embargo es importante realizar un diagnóstico oportuno mediante la sospecha, diagnóstico y abordaje permitiendo disminuir su progresión.

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41

Williams, David S. "Usher syndrome: Animal models, retinal function of Usher proteins, and prospects for gene therapy." Vision Research 48, no. 3 (February 2008): 433–41. http://dx.doi.org/10.1016/j.visres.2007.08.015.

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42

Keats, Bronya J. B., Alexander A. Todorov, Larry D. Atwood, Mary Z. Pelias, J. Fielding Hejtmancik, William J. Kimberling, Mark Leppert, Richard A. Lewis, and Richard J. H. Smith. "Linkage studies of usher syndrome type 1: Exclusion results from the usher syndrome consortium." Genomics 14, no. 3 (November 1992): 707–14. http://dx.doi.org/10.1016/s0888-7543(05)80172-7.

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Ouyang, Xiao Mei, Denise Yan, Li Lin Du, J. Fielding Hejtmancik, Samuel G. Jacobson, Walter E. Nance, An Ren Li, et al. "Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population." Human Genetics 116, no. 4 (January 20, 2005): 292–99. http://dx.doi.org/10.1007/s00439-004-1227-2.

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Reiners, Jan, Kerstin Nagel-Wolfrum, Karin Jürgens, Tina Märker, and Uwe Wolfrum. "Molecular basis of human Usher syndrome: Deciphering the meshes of the Usher protein network provides insights into the pathomechanisms of the Usher disease." Experimental Eye Research 83, no. 1 (July 2006): 97–119. http://dx.doi.org/10.1016/j.exer.2005.11.010.

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Reisser, Christoph F. V., William J. Kimberling, and Christian R. Otterstedde. "Hearing Loss in Usher Syndrome Type II is Nonprogressive." Annals of Otology, Rhinology & Laryngology 111, no. 12 (December 2002): 1108–11. http://dx.doi.org/10.1177/000348940211101208.

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Usher syndrome is an autosomal recessive disorder characterized by sensorineural hearing loss and progressive visual loss secondary to retinitis pigmentosa. In the literature, a possible progression of the moderate to severe hearing loss in Usher syndrome type II (Usher II) is controversial. We studied the development of the hearing loss of 125 patients with a clinical diagnosis of Usher syndrome type II intraindividually and interindividually by repeatedly performing complete audiological and neuro-otologic examinations. Our data show a very characteristic slope of the hearing curve in all Usher II patients and no clinically relevant progression of the hearing loss over up to 17 years. The subjective impression of a deterioration of the communicative abilities of Usher II patients must therefore be attributed to the progressive visual loss. The patients should be reassured that changes in their hearing abilities are unlikely and should be provided with optimally fitted modern hearing aids.

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Wang, Qian, Xin-Hai Xu, Shuai Ye, Chao Li, Xiao-Guang Ren, and Xue-Jun Yang. "WI-USHER: A grid-based parallel algorithm for particle insertion in hybrid atomistic-continuum method." Advances in Mechanical Engineering 9, no. 2 (February 2017): 168781401769189. http://dx.doi.org/10.1177/1687814017691895.

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The hybrid atomistic-continuum coupling method based on domain decomposition serves as an important tool for the micro-fluid simulation. There exists a certain degree of parallelism load imbalance when directly using the USHER algorithm in the domain decomposition–based hybrid atomistic-continuum coupling method. In this article, we propose a grid-based parallel algorithm for particle insertion, named WI-USHER, to improve the efficiency of the particle insertion operation when restricting the size of the region to be inserted or with higher number density. The WI-USHER algorithm slices the region to be inserted into finer grids with proper spacing scale, marks parts of finer grids in black according to three exclusive rules, that is, Single Particle Occupation (SPO), Single Particle Coverage (SPC), and Multi-Particles Coverage (MPC), and finds the target insertion point in the remained white grids. We use two test cases to show the superiority of our WI-USHER algorithm over the USHER algorithm. The WI-USHER algorithm performs lower averaged force evaluation times, which decreases from [Formula: see text] to [Formula: see text] compared to the USHER algorithm when the number density of slightly high to high value. The percentage of the total parallel simulation time processed by the particle insertion operation decreases from 23.5% to 3% compared to the USHER algorithm.

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47

Umme Salma, Akbar. "Usher Syndrome: A Case Report of Two Brothers." Open Access Journal of Ophthalmology 6, no. 2 (July 12, 2021): 1–3. http://dx.doi.org/10.23880/oajo-16000230.

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Purpose: To report a case of Usher’s syndrome in two brothers. Case Report: Two brothers, 24 and 26 years of age, presented to Chittagong eye infirmary and training complex with the complaints of gradual diminution of vision in both eyes, especially at night. Their ocular examination revealed best corrected visual acuity of 6/36 in right eye and 6/24 in left eye. Dilated fundus evaluation showed pigmentary retinopathy. Perimetry revealed peripheral visual field constriction. Their systemic examination revealed sensorineural hearing loss. These clinical findings supported the diagnosis of Usher syndrome Type 1. The patients were advised for low vision aids to improve their quality of life and counseling regarding the prognosis of the disease was done with the patient’s family members. Conclusion: Early detection and appropriate intervention will help preserve the residual vision.

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48

Paredes, Ángela Camila, Greizy López, Nancy Gelvez, and Marta Lucía Tamayo. "Caracterización fenotípica de la retinitis pigmentaria asociada a sordera." Biomédica 42, Sp. 1 (May 1, 2022): 130–43. http://dx.doi.org/10.7705/biomedica.6129.

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Introducción. El síndrome de Usher es una alteración genética caracterizada por la asociación de retinitis pigmentaria y sordera. Sin embargo, hay casos con familias en las cuales, a pesar de presentarse dicha asociación, no se puede diagnosticar un síndrome de Usher ni ninguno otro.Objetivo. Reevaluar fenotípicamente a 103 familias con diagnóstico previo de posible síndrome de Usher o retinitis pigmentaria asociada con sordera.Materiales y métodos. Se revisaron las historias clínicas de 103 familias con un posible diagnóstico clínico de síndrome de Usher o retinitis pigmentaria asociada con sordera. Se seleccionaron las familias cuyo diagnóstico clínico no correspondía a un síndrome de Usher típico. Los afectados fueron valorados oftalmológica y audiológicamente. Se analizaron variables demográficas y clínicas.Resultados. Se reevaluaron 14 familias cuyo diagnóstico clínico no correspondía al de síndrome de Usher. De las familias con diagnóstico inicial de síndrome de Usher típico, el 13,6 % recibieron uno posterior de “retinitis pigmentaria asociada con sordera”, de “otro síntoma ocular asociado con hipoacusia”, o en forma aislada en una misma familia, de “retinitis pigmentaria” o “hipoacusia”.Conclusiones. Es fundamental el estudio familiar en los casos en que la clínica no concuerda con el diagnóstico de síndrome de Usher típico. En los pacientes con retinitis pigmentaria asociada con sordera, el diagnóstico clínico acertado permite enfocar los análisis moleculares y, así, establecer un diagnóstico diferencial. Es necesario elaborar guías de nomenclatura en los casos con estos hallazgos atípicos para orientar a médicos e investigadores en cuanto a su correcto manejo.

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Thanassi, David G., Christos Stathopoulos, Karen Dodson, Dominik Geiger, and Scott J. Hultgren. "Bacterial Outer Membrane Ushers Contain Distinct Targeting and Assembly Domains for Pilus Biogenesis." Journal of Bacteriology 184, no. 22 (November 15, 2002): 6260–69. http://dx.doi.org/10.1128/jb.184.22.6260-6269.2002.

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ABSTRACT Biogenesis of a superfamily of surface structures by gram-negative bacteria requires the chaperone/usher pathway, a terminal branch of the general secretory pathway. In this pathway a periplasmic chaperone works together with an outer membrane usher to direct substrate folding, assembly, and secretion to the cell surface. We analyzed the structure and function of the PapC usher required for P pilus biogenesis by uropathogenic Escherichia coli. Structural analysis indicated PapC folds as a β-barrel with short extracellular loops and extensive periplasmic domains. Several periplasmic regions were localized, including two domains containing conserved cysteine pairs. Functional analysis of deletion mutants revealed that the PapC C terminus was not required for insertion of the usher into the outer membrane or for proper folding. The usher C terminus was not necessary for interaction with chaperone-subunit complexes in vitro but was required for pilus biogenesis in vivo. Interestingly, coexpression of PapC C-terminal truncation mutants with the chromosomal fim gene cluster coding for type 1 pili allowed P pilus biogenesis in vivo. These studies suggest that chaperone-subunit complexes target an N-terminal domain of the usher and that subunit assembly into pili depends on a subsequent function provided by the usher C terminus.

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Felek, Suleyman, Jenny J. Jeong, Lisa M. Runco, Susan Murray, David G. Thanassi, and Eric S. Krukonis. "Contributions of chaperone/usher systems to cell binding, biofilm formation and Yersinia pestis virulence." Microbiology 157, no. 3 (March 1, 2011): 805–18. http://dx.doi.org/10.1099/mic.0.044826-0.

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Yersinia pestis genome sequencing projects have revealed six intact uncharacterized chaperone/usher systems with the potential to play roles in plague pathogenesis. We cloned each locus and expressed them in the Δfim Escherichia coli strain AAEC185 to test the assembled Y. pestis surface structures for various activities. Expression of each chaperone/usher locus gave rise to specific novel fibrillar structures on the surface of E. coli. One locus, y0561-0563, was able to mediate attachment to human epithelial cells (HEp-2) and human macrophages (THP-1) but not mouse macrophages (RAW264.7), while several loci were able to facilitate E. coli biofilm formation. When each chaperone/usher locus was deleted in Y. pestis, only deletion of the previously described pH 6 antigen (Psa) chaperone/usher system resulted in decreased adhesion and biofilm formation. Quantitative RT-PCR (qRT-PCR) revealed low expression levels for each novel chaperone/usher system in vitro as well as in mouse tissues following intravenous infection. However, a Y. pestis mutant in the chaperone/usher locus y1858-1862 was attenuated for virulence in mice via the intravenous route of infection, suggesting that expression of this locus is, at some stage, sufficient to affect the outcome of a plague infection. qRT-PCR experiments also indicated that expression of the chaperone/usher-dependent capsule locus, caf1, was influenced by oxygen availability and that the well-described chaperone/usher-dependent pilus, Psa, was strongly induced in minimal medium even at 28 °C rather than 37 °C, a temperature previously believed to be required for Psa expression. These data indicate several potential roles for the novel chaperone/usher systems of Y. pestis in pathogenesis and infection-related functions such as cell adhesion and biofilm formation.

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Journal articles on the topic 'Usher'

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