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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 | Arabidopsis SGT1b is required for SCF(TIR1)-mediated auxin response显示文摘 | Gray W M Muskett P R Chuang H W | 2003 | Plant Cell2003，15，： | 1 |
| 3 | Arabidoposis RAR1 exerts rate limiting control of R gene-mediated defenses against muhiple pathogens 显示文摘 | Muskett P R Kahn K Austin M J | 2002 | Plant Ce112002，14，5： | 1 |
| 4 | Duration of immunosuppression caused by a vaccine strain of infections bursal disease virus显示文摘 | Edwards K R Muskett J C Thornton D H | 1982 | Research in Vet Sci1982，32，： | 1 |
| 5 | Role of ubiquitination in the regulation of plant defence against pathogens显示文摘 | Devoto A Muskett P R Shirasu K | 2003 | Curr Opin Plant Biol2003，6，： | 1 |
| 6 | NMR approaches for monitoring domain orientations in calcium-binding proteins in solution using partial replacement of Ca^2+ by Tb^3+显示文摘 | Biekofsky R R Muskett F W Schmidt J M | 1999 | FEBS Lett1999，460，3： | 1 |
| 7 | NMR approaches for monitoring domain orientations in calcium-binding proteins in solution using partial replacement of Ca 2+ by Tb 3+显示文摘 | Rodolfo R. Biekofsky Frederick W. Muskett Jürgen M. Schmidt Stephen R. Martin J.Peter Browne Peter M. Bayley James Feeney | 1999 | FEBS Letters1999，，3： | 1 |
| 8 | Role of SGT1 in the regulation of plant R gene signalling显示文摘 | Muskett P Parker J | 2003 | Microbes Infect2003，5，： | 1 |
| 9 | Regulatory role of SGT1 in early R gene-mediated plant detenses 显示文摘 | AUSTIN M J MUSKETT P KAHN K | 2002 | Science2002，295，5562： | 1 |
| 10 | Regulatory role of SGT1 in early R gene mediated plant detenses显示文摘 | AUSTIN M J MUSKETT P KAHN K FEYS B J JONES J D PARKER J E | 2002 | Science2002，295，5562： | 1 |
| 11 | Use of SLC26A4 mutation testing for unilateral enlargement of the vestibular aqueduct显示文摘 | CHATTARAJ P REIMOLD F R MUSKETT J A | 2013 | JAMA Otolaryngol Head Neck Surg2013，139，： | 1 |
| 12 | Role of ubiquitination in the regulation of plant defence against pathogens显示文摘 | Devoto A Muskett P R Shirasu K | | 0，，： | 1 |
| 13 | NMR approaches for monitoring domain orientations in calcium-binding proteins in solution using partial replacement of Ca2+ by Tb3+ 显示文摘 | BIEKOFSKY R R MUSKETT F W SCHMIDT J M | 1999 | FEBS Lett1999，460，3： | 1 |
| 14 | Arabidopsis RAR1 exerts rate-limiting control of R gene-mediated defenses against multiple pathogens显示文摘 | MUSKETT P R KAHN K AUSTIN M J | 2002 | Plant Cell2002，14，5： | 1 |
| 15 | Development and validation of a risk model for identification of non-neutropenic, critically ill adult patients at high risk of invasive candida infection: the Fungal Infec- tion Risk Evaluation(FIRE) study显示文摘 | Harrison D Muskett H Harvey S | 2013 | Health Technol Assess2013，17，3： | 1 |
| 16 | Regulatory role of SGT1 in early R gene-mediated plant defenses 显示文摘 | AUSTIN M J MUSKETT P KAHN K | 2002 | Science2002，295，5562： | 1 |
| 17 | Role of SGT1 in the regulation ofp lant R gene signaling显示文摘 | Muskett P Parker J | 2003 | Microbes Infect2003，5，： | 1 |
| 18 | Risk factors for invasive fungaldisease in critically ill adult patients : a systematic review 显示文摘 | Muskett H Shahin J Eyres G | 2011 | CritCare2011，15，6： | 1 |
| 19 | Development and vali- dation of a risk model for identification of non-neutropenic, criti- cally ill adult patients at high risk of invasive Candida infection: the Fungal Infection Risk Evaluation (FIRE) Study 显示文摘 | Harrison D Muskett H Harvey S | 2013 | HealthTechnolAssess2013，17，3： | 1 |
| 20 | Arabidopsis SGTlb is required for SCF^TIRI-mediated auxin response显示文摘 | GRAY W M MUSKETT P R CHUANG H W et ol | 2003 | Plant Cell2003，15，6： | 1 |
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