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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 | Role of lipoprotein-associated phospholipase A(2) in atherosclerosis-Biology,epidemiology,and possible therapeutic target显示文摘 | Zalewski A Macphee C | 2005 | Arterioscler Thromb Vasc Biol2005，25，5： | 1 |
| 3 | Role of lipoprotein-associated phospholipase A2 in atherosclerosis:biology,epidemiology,and possible therapeutic target显示文摘 | Zalewski A Macphee C | | 0，，05： | 1 |
| 4 | Role of lipoprotein-associated phospholipase A2 in atherosclerosis:biology,epidemiology,and possible therapeutic target显示文摘 | Zalewski A Macphee C | | 0，，05： | 1 |
| 5 | Genome sequence of the radioresistant bacteriumDeinococcus radiodurans R显示文摘 | White O Eisen J A Heidelberg J F Hickey E K Peterson J D Dodson R J Haft D H Gwinn M L Nelson W C Richardson D L Moffat K S Qin H Jiang L Pamphile W Crosby M Shen M Vamathevan J J Lam P McDonald L Utterback T Zalewski C Makarova K S Aravind L Daly M J Minton K W Fleischmann R D Ketchum K A Nelson K E Salzberg S Smith H O Venter J C Fraser C M | 1999 | Science1999，286，5444： | 1 |
| 6 | Role of lipopmtein-associated phospholipase A2 in atherosclerosis biology,epidemiolo-gy,and possible therapeutic target 显示文摘 | Zalewski A Maephee C | 2010 | Artefioseler Thromb Vase Bid2010，25，5： | 1 |
| 7 | Role of lipoprotein - associated phospho- lipase A2 in atheroselerosis : biology, epidemiology, and possible therapeutic target显示文摘 | Zalewski A Macphee C | 2005 | Arterioscler Thromb Vasc Biol2005，25，5： | 1 |
| 8 | Zinc fluxes and zinc transporter genes in chronicdiseases显示文摘 | DEVIRGILIIS C ZALEWSKI P D PEROZZI G | 2007 | Mutat Res/Fundam Mol Mech Mutagen2007，622，12： | 1 |
| 9 | Role of lipoprelein-associated phospho- lipase A2 in athcrosclerosis : biology, epidemiology, and possible therapeutic target 显示文摘 | Zalewski A Macphee C | 2005 | Artetioseler Thromb Vase Biol2005，25，5： | 1 |
| 10 | Lipoprotein-associated phus- pholipase A2: apotential therapeutic target for atherosclerosis 显示文摘 | Zalewski A Macphee C Nelson JJ | 2005 | Curr Drug Targets Cardiovasc Haemaol Disord2005，5，6： | 1 |
| 11 | Role of lipoprotein associated phospholipase A2 in athemsclerosis:biology, epidemiology, and possible therapeutic显示文摘 | Zalewski A Macphee C | 2005 | Arterioscler Thromb Vase Biol2005，25，： | 1 |
| 12 | Roleoflipoprotein-associatedphospholipaseA2inatherosclerosis:biology,epidemiolo-gy,and possible therapeutic target显示文摘 | Zalewski A Macphee C | 2005 | ArteriosclerThrombVascBiol2005，25，5： | 1 |
| 13 | SLC26A4 genotype, but not cochlear radiologic structure, is correlated with heating loss in ears with an enlarged vestibular aqueduct显示文摘 | King KA Choi BY Zalewski C | 2010 | Laryngoscope2010，120，2： | 1 |
| 14 | Intensive care unit core measures improve infectious complications in burn patients显示文摘 | Wahl WL Arbabi S Zalewski C | | 0，，01： | 1 |
| 15 | Role of lipoprotein-associated phospholi- pase A2 in biology,epidemiology,and Possible the rapeeutic target显示文摘 | Zalewski A Macphee C | 2005 | Arterioscler Thromb Vase Biol2005，25，5： | 1 |
| 16 | Surface electrocardiogram ischemia during coronary artery occlusion显示文摘 | Berry C zalewski A Kovach R | 1989 | Am J Cardiol1989，，： | 1 |
| 17 | Role of lipoprotein-associated phospholipase A2 in atherosclerosis: biology, epidemiology, and possible therapeutic target显示文摘 | Zalewski A Macphee C | 2005 | Arteriosc1er Thromb Vasc Bioi2005，25，5： | 1 |
| 18 | Role of lipoprotein-associated phospholipase A2 in atheroscler-osis: biology, epidemiology, and possible therapeutic target显示文摘 | Zalewski h Macphee C | 2005 | Arterioscler Thromb Vasc Biol2005，25，5： | 1 |
| 19 | Role of lipoprotein- associated phospholi- pase A2 in atherosclerosis :biology, epidemiology, and possible thera- peutic target显示文摘 | Zalewski A Macphee C | 2005 | Arterioscler Thromb Vasc Biol2005，25，： | 1 |
| 20 | The role of horizontalgene transfer in the spread of trimethopri-sulfamethoxazoleresistance among uropathogenic Escherichia coli in Europe andCanada 显示文摘 | Blahna M T Zalewski C A Reuer J | 2006 | J Antimicrob Chemother2006，57，4： | 1 |
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