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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 | Bone induction by BMP-2 transduced stem cells derived from human fat显示文摘 | Dragoo J L Choi J Y Lieberman J R Huang J, Zuk P A, Zhang J, Hedrick M H, Benhaim P | | 0，，： | 2 |
| 3 | Heme oxugenase:colors of defense against cellular stress显示文摘 | OTTERBEIN L E CHOI A M | 2000 | AM J Physiol Lung Cell Mol Physiol2000，279，6： | 1 |
| 4 | A novel variant of Inpp5f is imprinted in brain, and its expression is correlated with differential methylation of an internal CpG island显示文摘 | Choi J D Underkoffler L A Wood A J | 2005 | Mol Cell Biol2005，25，13： | 1 |
| 5 | CD4 T cells are the only lymphocytes needed to protect mice against rotavirus shedding after intranasal immunization with achimeric VP6 protein and the adjuvant LT(R192G)显示文摘 | McNeal M M VanCott J L Choi A H | 2002 | J Virol2002，76，2： | 1 |
| 6 | Hemoglobin provides protection against lethal endotoxemia in rats: The role of heme exygenase-1 显示文摘 | Otterbein L Sylvester S L Choi A M K | 1995 | Am J Respir Cell Mol Biol1995，13，： | 1 |
| 7 | Hormetic effect induced by alpha-particle-induced stress communicated in vivo between zebrafish embryos显示文摘 | Choi V W Cheung A L Cheng S H | 2012 | Environ Sci Technol2012，46，11： | 1 |
| 8 | Metabolic syndrome increases the risk of liver cirrhosis in chronic hepatitis B显示文摘 | Wong G L Wong V W Choi P C Chan A W Chim A M Yiu K K | 2009 | Gut2009，58，： | 1 |
| 9 | 显示文摘 | ZHANG Y P YE X W TIAN M K QU L B CHOI S H GOPALAN A I LEE K P | 2008 | J Chromatogr: A2008，1188，1： | 1 |
| 10 | 查看详情显示文摘 | Chen J. I. L Freymann G Choi S. Y Kitaev V.G.Ozin A | | 0，，： | 1 |
| 11 | Genetically distinct dog-derived and human-derived Sarcoptes scabiei in scabies-endemic communities in northern Australia显示文摘 | Walton S F Choy J L Bonson A | 1999 | Am J Trop Med Hyg1999，61，4： | 1 |
| 12 | The Roles that Forecast Surprise and Forecast Error Play in Determining Management Forecast Precision 显示文摘 | Choi J Myers L A Zang Y Ziebart D A | 2010 | Accounting Horizons2010，24，2： | 1 |
| 13 | Liposome formulation of paclita- xel with enhanced solubility and stability显示文摘 | Yang T Cui FD Choi MK et a l | 2007 | Drug Delivery2007，14，： | 1 |
| 14 | Crossed nanotube junctions 显示文摘 | FUHRER M S NYGARD J SHIH L FORERO M YOON Young-gui MAZZONI M S C CHOI H J IHM J LOUIE S G Z A MCEUEN P L | 2000 | Science2000，288，： | 1 |
| 15 | A biomimetic piezoelectric pump:Computational and experimental characterization显示文摘 | Lima C R Vatanabe S L Choi A | 2009 | Sensors and Actuators2009，152，1： | 1 |
| 16 | Mechanisms underlying the vasorelaxing effects of butylidenephthalide,an active constituent of Ligusticum chuanxiong in rat isolated aorta 显示文摘 | Chan S S K Choi A O K Jones R L | 2006 | European Journal of Pharmacology2006，537，： | 1 |
| 17 | Mercury biogeochemi- cal cycling in the ocean and policy implications 显示文摘 | Mason R P Choi A L Fitzgerald W F | 2012 | Environmental Research2012，119，： | 1 |
| 18 | Promotion of water- mediated carbon removal by nanostructured barium oxide/nickel interfaces in solid oxide fuel cells显示文摘 | YANG L CHOI Y M QIN W T CHEN H Y BLINN K LIU M F LIU P BAI J M TYSON T A L1U M L | 2011 | Nat Commun2011，2，： | 1 |
| 19 | Granzyme B induces smooth muscle cell apoptosis in the absence of perforin: involvement of extracellular matrix degradation显示文摘 | CHOY J C HUNG V H HUNTER A L | 2004 | Arterioscler Thromb Vasc Biol2004，24，： | 1 |
| 20 | Wnt5a is necessary for normalkidney development in zebrafish and mice 显示文摘 | Huang L Xiao A Choi SY | 2014 | Nephron ExpNephrol2014，128，12： | 1 |
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