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| 1 | SLC26A4 mutation testing for hearing loss associated with enlargement of the vestibular aqueduct显示文摘Pendred syndrome(PS) is characterized by autosomal recessive inheritance of goiter associated with a defect of iodide organification, hearing loss, enlargement of the vestibular aqueduct(EVA), and mutations of the SLC26A4 gene. However, not all EVA patients have PSor SLC26A4 mutations. Two mutant alleles of SLC26A4 are detected in 1/4 of North American or European EVA populations, one mutant allele is detected in another 1/4 of patient populations, and no mutations are detected in the other 1/2. The presence of two mutant alleles of SLC26A4 is associated with abnormal iodide organification, increased thyroid gland volume, increased severity of hearing loss, and bilateral EVA. The presence of a single mutant allele of SLC26A4 is associated with normal iodide organification, normal thyroid gland volume, less severe hearing loss and either bilateral or unilateral EVA. When other underlying correlations are accounted for, the presence of a cochlear malformation or the size of EVA does not have an effect on hearing thresholds. This is consistent with observations of an Slc26a4 mutant mouse model of EVA in which hearing loss is independent of endolymphatic hydrops or inner ear malformations. Segregation analyses of EVA in families suggest that the patients carrying one mutant allele of SLC26A4 have a second, undetected mutant allele of SLC26A4, and the probability of a sibling having EVA is consistent with its segregation as an autosomal recessive trait. Patients without any mutations are an etiologically heterogeneous group in which siblings have a lower probability of having EVA. SLC26A4 mutation testing can provide prognostic information to guide clinical surveillance and management, as well as the probability of EVA affecting a sibling. | Taku Ito Julie Muskett Parna Chattaraj Byung Yoon Choi Kyu Yup Lee Christopher K Zalewski Kelly A King Xiangming Li Philine Wangemann Thomas Shawker Carmen C Brewer Seth L Alper Andrew J Griffith | 2013 | World Journal of Otorhinolaryngology2013，3，2： | 2 |
| 2 | 卒中介入治疗培训指南:国际多学会共识文件显示文摘1背景
缺血性卒中是全球人口死亡和残疾的首要原因。很多急性大血管闭塞(emergent large vesselocclusion,ELVO)患者都会遗留长期残疾。事实上,这些颅内大动脉闭塞经常会导致大面积脑损伤,进而造成患者死亡或严重致残。 | Lavine SD Cockroft K Hoh B Bambakidis N Khalessi AA Woo H Riina H Siddiqui A Hirsch JA Chong W Rice H Wenderoth J Mitchell P Coulthard A Signh TJ Phatorous C Khangure M Klurfan P ter Brugge K Iancu D Gunnarsson T Pongpech S Rodesch G Soderman M Taylor A Krings T Orbach D Picard L Suh DC Zheng HQ Jansen O Muto M Szikora I Pierot L Brouwer P Gralla J Renowden S Andersson T Fiehler J Turjman F White P Januel AC Spelle L Kulcsar Z Chapot R Biondi A Dima S Taschner C Szajner M Krajina A Sakai N Matsumaru Y Yoshknura S Ezura M Fujinaka T Iihara K Ishii A Higashi T Hirohata M Hyodo A Ito Y Kawanishi M Kiyosue H Kobayashi E Kobayashi S Kuwayama N Matsumoto Y Miyachi S Murayama Y Nagata I Nakahara I Nemoto S Niimi Y Oishi H Satomi J Satow T Sugiu K Tanaka M Terada T Yamagami H Diaz O Lylyk P Jayaraman MV Patsalides A Gandhi CD Lee SK Abruzzo T Albani B Ansari SA Arthur AS Baxter BW Bulsara KR Chen M Almandoz JE Fraser JF Heck DV Hetts SW Hussain MS Klucznik RP Leslie-Mawzi TM Mack WJ McTaggart RA Meyers PM Mocco J Prestigiacomo CA Pride GL Rasmussen PA Starke RM Sunenshine PJ Tarr RW Frei DF Pabo M Nogueira RG Zaidat OO Jovin T Linfante I Yavagal D Liebeskind D Novakovic R Pongpech S 许岩 孙瑞 郭芮兵 | 2017 | 国际脑血管病杂志2017，25，5： | 2 |
| 3 | Novel antigens for neurocysticercosis: simple method for preparation and evaluation for sodiagnosis 显示文摘 | Ito A Plancarte A Ma L | 1998 | Am J Trop Hyg1998，59，： | 2 |
| 4 | Novel antigens for neurocysticercosis: simple method for preparation and evaluation for serodiagnosis 显示文摘 | Ito A Plancarte A Ma L | 1998 | Am J Trop Med Hyg1998，59，2： | 1 |
| 5 | Causal relationship between the loss of RUNX3 expression and gastric cancer显示文摘 | Li Q L Ito K Sakakura C | 2002 | Cell2002，109，1： | 1 |
| 6 | Omnipotent decoding potential resides in eukaryotic translation termination factor eRF1 of variant-code organisms and is modulated by the interactions of amino acid sequences within domain 1显示文摘 | Ito K Frolova L Seit-Nebi A | 2002 | Proc Natl Acad Sci USA2002，99，13： | 1 |
| 7 | Suppressive oligodeoxynucleotides delay the onset of glomerulonephritis and prolong the survival of lupus-prone NZB! W mice 显示文摘 | Dong L Ito S Ishii K J | 2004 | Arthritis Rheum2004，52，2： | 1 |
| 8 | Suppressive oligodeoxynucleotides protect against the development of collageninduced arthritis in mice 显示文摘 | Dong L Ito S Ishii K J | 2005 | J Immunol2005，174，8： | 1 |
| 9 | Ectopic production of MDA-7/ IL-24 inhibits invasion and migration of human lung cancer cells 显示文摘 | Ramesh R Ito l Gopalan B | 2004 | Mol Ther2004，9，4： | 1 |
| 10 | Combustibility of dried sewage sludge and its mineral transformation at different oxygen content in drop tube furnace显示文摘 | Zhang L Ito M Sato A | 2004 | Fuel Processing Technology2004，85，810： | 1 |
| 11 | Health culture and the clinical encounter:viemamese refugees/responses to preventive drug treatment of inactive tuberculosis显示文摘 | ITO K L | 1999 | Med Anthrepol Q1999，13，： | 1 |
| 12 | Structure and function of vascular endothelial growth factor receptor-1and-2显示文摘 | Shibuya M Ito N Cleasson-Welsh L | 1999 | Curr Top Microbiol Immunol1999，237，： | 1 |
| 13 | Effects of in-doping on the thermoelectric properties of β-Zn4Sb3显示文摘 | TSUTSUI M ZHANG L T ITO K YAMAGUCHI M | 2004 | Intermetallics2004，12，79： | 1 |
| 14 | Dose-dependent biochemical changes in rat central nervous system after 12-week exposure to 1- bromopropane显示文摘 | Wang H L Ichihara G Ito H et 01 | 2003 | Neurotoxicology2003，24，2： | 1 |
| 15 | Influenza induces IL-8 and GM-CSF secretion by human alveolar epithelial cells through HGF/c-Met and TGF-c~/EGFR signaling 显示文摘 | ITO Y CORRELL K ZEMANS R L et at | 2015 | Am J Physiol Lung Cell Mol Physiol2015，308，11： | 1 |
| 16 | Tet proteins can convert 5-methylcy- tosine to 5-formylcytosine and 5-carboxylcytosine 显示文摘 | Ito S Shen L Dai Q | 2011 | Science2011，333，6047： | 1 |
| 17 | Tissue engineering of func- tional articular cartilage: the current status显示文摘 | Kock L van Donkelaar CC Ito K | 2012 | Cell Tissue Res2012，347，3： | 1 |
| 18 | Tobacco smoking and neutrophil activity in patients with periodontal disease显示文摘 | Persson L Bergstrom J Ito H | 2001 | J Periodontol2001，72，1： | 1 |
| 19 | Sodium-A functional plant nutrient显示文摘 | Sobbarao G V Ito O Berry W L | | 0，，： | 1 |
| 20 | Anti-tumor polysaceharide from the mycelium of liquid-cultured Agaricus blazei Mill显示文摘 | Miunno M Minato K l Ito H | 1999 | Biochemistry and Molecular Biology International1999，47，4： | 1 |
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