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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 | Human epicardial adipose tissue is a source of inflammatory mediators 显示文摘 | Mazurek T Zhang L Zalewski A | 2003 | Circulation2003，108，20： | 1 |
| 3 | MDR - 1 gene polymorphisms and clinical course of steroid - responsive nephrotic syndrome in children显示文摘 | Wasilewska A Zalewski G Chyczewski L | 2007 | Pediatr Nephrol2007，22，1： | 1 |
| 4 | MDR- 1 gene polymorphisms and clinical course of steroid- responsive nephrotic syndrome in children 显示文摘 | Wasilewska A Zalewski G Chyczewski L | 2007 | Pediatr Nephrol2007，22，1： | 1 |
| 5 | Human epieardial adipose tissue is a source of inflammatory mediators 显示文摘 | Mazurek T Zhang L Zalewski A | 2003 | Circulation2003，108，20： | 1 |
| 6 | Human epicardial adipose tissue is a source of inflammatory mediators显示文摘 | MAZUREK T ZHANG L ZALEWSKI A | 2003 | Circulation2003，108，： | 1 |
| 7 | Expression of extracellular matrix components is disrupted in the immature and adult es- trogen receptor ~ -null mouse ovary显示文摘 | Zalewski A Cecchini E L Deroo B J | 2012 | PLOS One2012，7，29： | 1 |
| 8 | Human epicardial adipose tissue is a source of inflammatory mediators显示文摘 | Mazurek T Zhang L Zalewski A | 2003 | Circulation2003，108，20： | 1 |
| 9 | Experimental thermal study of a solar wall of composite type显示文摘 | Zalewski L Chantant M LaSSHe S | 1997 | Energy and Buildings1997，25，1： | 1 |
| 10 | 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 |
| 11 | Human epicardial adipose tissue is a source of inflammatory mediators 显示文摘 | Zhang L Zalewski A | 2003 | Circulation2003，108，20： | 1 |
| 12 | Human epicardial adipose tissue is a source of inflammatory mediators 显示文摘 | Mazurek T Zhang L Zalewski A | 2003 | Circulation2003，108，20： | 1 |
| 13 | Human epicardial adiposetissue is a source of inflammatory mediators显示文摘 | Mazurek T Zhang L Zalewski A | 2003 | Circulation2003，108，20： | 1 |
| 14 | MDR-1 geue polymorphisms and clinical course of steroid-respen-sive nephrotic syndrome in children显示文摘 | Wasilewska A Zalewski G Chyczewski L | 2007 | Pediatr Nephrol2007，22，： | 1 |
| 15 | MDR-1 gene polymorphisms and clinical course of steroid-responsive nephrotic syndrome in children 显示文摘 | WASILEWSKA A ZALEWSKI G CHYCZEWSKI L | 2007 | Pediatr Nephrol2007，22，1： | 1 |
| 16 | Human epicardial adipose tis- sue is a source of inflammatory mediators显示文摘 | Mazurek T Zhang L Zalewski A | 2003 | Circulation2003，108，20： | 1 |
| 17 | Experimental thermal study of a solar wall of composite type显示文摘 | Zalewski L Chantant M Lassue S | 1997 | Energy and Buildings1997，25，1： | 1 |
| 18 | Experimental study of small-scale solar wall integrating phase change material显示文摘 | ZALEWSKI L JOULIN A LASSUE S | 2012 | Solar Energy2012，86，1： | 1 |
| 19 | Alcohol dehydrogenase (ADH) isoenzymes and aldehyde dehydrogenase (ALDH)activity in the sera of patients with colorectal cancer显示文摘 | Jelski W Zalewski B Chrostek L | 2007 | Clin Exp Med2007，7，4： | 1 |
| 20 | Diabetes-induced oxidative stress and low-grade inflammation in porcine coronary arteries显示文摘 | Zhang L Zalewski A Liu Y | 2003 | Circulation2003，108，4： | 1 |
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