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[해외논문] Genetic association of MYH genes with hereditary hearing loss in Korea

Gene, v.591 no.1, 2016년, pp.177 - 182  

Kim, Sang-Joo (Department of Biology, College of Natural Sciences, Kyungpook National University, Daegu 41566, Republic of Korea) ,  Lee, Seokwon (Department of Biology, College of Natural Sciences, Kyungpook National University, Daegu 41566, Republic of Korea) ,  Park, Hong-Joon (Soree Ear Clinics, Seoul 06068, Republic of Korea) ,  Kang, Tae-Hun (Department of Biology, College of Natural Sciences, Kyungpook National University, Daegu 41566, Republic of Korea) ,  Sagong, Borum (Department of Biology, College of Natural Sciences, Kyungpook National University, Daegu 41566, Republic of Korea) ,  Baek, Jeong-In (Department of Aroma Applied Industry, College of Herbal Bio-industry, Daegu Haany University, Gyeongsan 38610, Republic of Korea) ,  Oh, Se-Kyung (Division of Life Sciences, Korea Polar Research Institute (KOPRI), Incheon 21990, Republic of Korea) ,  Choi, Jae Young (Department of Otorhinolaryngology, Yonsei University College of Medicine, Seoul 03722, Republic of Korea) ,  Lee, Kyu-Yup (Department of Otorhinolaryngology-Head and Neck Surgery, School of Medicine, Kyungpook National University, Daegu 41944, Republic of Korea) ,  Kim, Un-Kyung (Dep)

Abstract AI-Helper 아이콘AI-Helper

Background: Myosin is a key protein involved in regulating the shape and motility of cells. The MYH9 and MYH14 genes, which encode non-muscle myosin heavy chain IIA (NMMHC II-A) and IIC (NMMHC II-C), respectively, are expressed in the inner ear. These myosin genes are known to be associated with aut...

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참고문헌 (32)

  1. Adzhubei 2013 Curr Protoc Hum Genet Chapter 7, Unit7 20 Predicting functional effect of human missense mutations using PolyPhen-2 

  2. Biochim. Biophys. Acta Bahler 1496 52 2000 10.1016/S0167-4889(00)00008-2 Are class III and class IX myosins motorized signalling molecules? 

  3. Mol. Biol. Cell Berg 12 780 2001 10.1091/mbc.12.4.780 A millennial myosin census 

  4. Biophys. J. Cai 91 3907 2006 10.1529/biophysj.106.084806 Nonmuscle myosin IIA-dependent force inhibits cell spreading and drives F-actin flow 

  5. ASHA Clark 23 493 1981 Uses and abuses of hearing loss classification 

  6. Genet. Mol. Biol. Dantas 37 616 2014 10.1590/S1415-47572014005000025 c.G2114A MYH9 mutation (DFNA17) causes non-syndromic autosomal dominant hearing loss in a Brazilian family 

  7. Am. J. Hum. Genet. Donaudy 74 770 2004 10.1086/383285 Nonmuscle myosin heavy-chain gene MYH14 is expressed in cochlea and mutated in patients affected by autosomal dominant hearing impairment (DFNA4) 

  8. PLoS ONE Gong 5 2010 10.1371/journal.pone.0009186 Structural and functional restraints on the occurrence of single amino acid variations in human proteins 

  9. Blut Greinacher 61 282 1990 10.1007/BF01732878 Sebastian platelet syndrome: a new variant of hereditary macrothrombocytopenia with leukocyte inclusions 

  10. BioEssays Gulick 19 561 1997 10.1002/bies.950190707 Structural studies on myosin II: communication between distant protein domains 

  11. Hear. Res. Henson 16 231 1984 10.1016/0378-5955(84)90112-6 The attachment of the spiral ligament to the cochlear wall: anchoring cells and the creation of tension 

  12. Hear. Res. Henson 20 207 1985 10.1016/0378-5955(85)90025-5 Immunocytochemical localization of contractile and contraction associated proteins in the spiral ligament of the cochlea 

  13. Nat. Protoc. Kumar 4 1073 2009 10.1038/nprot.2009.86 Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm 

  14. Audiol. Neurootol Lalwani 2 139 1997 10.1159/000259237 A five-generation family with late-onset progressive hereditary hearing impairment due to cochleosaccular degeneration 

  15. Am. J. Hum. Genet. Lalwani 64 318 1999 10.1086/302216 A new locus for nonsyndromic hereditary hearing impairment, DFNA17, maps to chromosome 22 and represents a gene for cochleosaccular degeneration 

  16. Am. J. Hum. Genet. Lalwani 67 1121 2000 10.1086/321212 Human nonsyndromic hereditary deafness DFNA17 is due to a mutation in nonmuscle myosin MYH9 

  17. Hum. Mutat. Malfait 28 387 2007 10.1002/humu.20455 Three arginine to cysteine substitutions in the pro-alpha (I)-collagen chain cause Ehlers-Danlos syndrome with a propensity to arterial rupture in early adulthood 

  18. J. Neurosci. Res. Mhatre 76 296 2004 10.1002/jnr.20065 Cloning and developmental expression of nonmuscle myosin IIA (Myh9) in the mammalian inner ear 

  19. J. Neurosci. Res. Mhatre 84 809 2006 10.1002/jnr.20993 Expression of Myh9 in the mammalian cochlea: localization within the stereocilia 

  20. Blood Peterson 65 397 1985 10.1182/blood.V65.2.397.397 Fechtner syndrome-a variant of Alport's syndrome with leukocyte inclusions and macrothrombocytopenia 

  21. Chem. Biol. Interact. Podoly 187 64 2010 10.1016/j.cbi.2010.01.003 Alanine-to-threonine substitutions and amyloid diseases: butyrylcholinesterase as a case study 

  22. Proc. Natl. Acad. Sci. U. S. A. Reichold 107 14490 2010 10.1073/pnas.1003072107 KCNJ10 gene mutations causing EAST syndrome (epilepsy, ataxia, sensorineural deafness, and tubulopathy) disrupt channel function 

  23. Nat. Methods Schwarz 7 575 2010 10.1038/nmeth0810-575 MutationTaster evaluates disease-causing potential of sequence alterations 

  24. Biochim. Biophys. Acta Sellers 1496 3 2000 10.1016/S0167-4889(00)00005-7 Myosins: a diverse superfamily 

  25. Nat. Genet. Seri 26 103 2000 10.1038/79063 Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium 

  26. Hum. Genet. Seri 110 182 2002 10.1007/s00439-001-0659-1 Epstein syndrome: another renal disorder with mutations in the nonmuscle myosin heavy chain 9 gene 

  27. Medicine (Baltimore) Seri 82 203 2003 10.1097/01.md.0000076006.64510.5c MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness 

  28. J. Mol. Biol. Stefl 425 3919 2013 10.1016/j.jmb.2013.07.014 Molecular mechanisms of disease-causing missense mutations 

  29. Biophys. J. Teng 96 2178 2009 10.1016/j.bpj.2008.12.3904 Modeling effects of human single nucleotide polymorphisms on protein-protein interactions 

  30. Am. J. Med. Genet. A Yang 139 9 2005 10.1002/ajmg.a.30989 Genetic heterogeneity of deafness phenotypes linked to DFNA4 

  31. Nature Yin 406 1013 2000 10.1038/35023024 Myosin V orientates the mitotic spindle in yeast 

  32. Comput. Math. Meth. Med. Zhang 2012 805827 2012 10.1155/2012/805827 Analyzing effects of naturally occurring missense mutations 

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