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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 | Flight Control Actuation Technology for Next--Generation All-- Electric Aircraft显示文摘 | Botten S L Whitley C R King A D | 2000 | Technology Review Journal-- Millennium Issue2000，，3： | 1 |
| 3 | Schematic method of deriving the rate laws for enzyme-catalyzed reactions显示文摘 | King E L Altman C A | 1956 | J Phys Chem1956，60，： | 1 |
| 4 | Surface deformation and lower crustal flow in eastern Tibet显示文摘 | ROYDEN L H BURCHFIEL B C KING R W et al | 1997 | Science1997，276，： | 1 |
| 5 | Sorption and extraction of laCtic and succinic acids at pH> pKa1( 1 ) Factors governing equilibria显示文摘 | Tung L S King C J | 1994 | Ind Eng Chem Res1994，33，： | 1 |
| 6 | Long-term swine lagoon efflue nt applications on‘coastal' Bermudgrass,I:Effect on nutrient accumulation in soil显示文摘 | King L D Burns J C Westerman P W | 1990 | The Journal of Environmental Quality1990，19，4： | 1 |
| 7 | X-ray Crystal Structure of Rocaglamide, a Novel Antileukemic ^1H-Cyclopenta benzofuran from Aglaia Elliptifolia显示文摘 | KING M L CHIANG C C LING H C | 1982 | J Chem Soc Chem Commun1982，，： | 1 |
| 8 | Flight control actuation technology for next generation all-electric aircraft显示文摘 | Botten S L Whitley C R King A D | 2000 | Technology Review Journal Millennium Issue2000，，： | 1 |
| 9 | Plant growth andnitrogenase activity of glyphosate-tolerant soybean in re-sponse to foliar glyphosate applications 显示文摘 | King C A Purcell L C Vories E D | 2001 | AgronomyJournal2001，93，1： | 1 |
| 10 | Sample preparation of Gram-positive bacteria for identification by matrix-assisted laser desorption/ionization time-of-flight mass spectrometry 显示文摘 | SMOLE S C KING L A LEOPOLD P E | 2002 | Mierobiolog Methods2002，48，23： | 1 |
| 11 | Murinestrain differences and the effects of zinc on cadmiumconcentrations in tissues after acute cadmium exposure显示文摘 | King L M Anderson M B Sikka S C | 1998 | Arch Toxicol1998，72，10： | 1 |
| 12 | Mechanisms of disease:endothelial dysfunction in insulin resistance and diabetes 显示文摘 | Ask-Madsen C King G L | 2007 | Nat Clin Pract Endocrinol Metab2007，3，： | 1 |
| 13 | Mechanisms of disease:endo- thelial dysfunction in insulin resistance and diabetes显示文摘 | Rask-Madsen C King G L | 2007 | Nat Clin Pract Endocrinol Metab2007，3，1： | 1 |
| 14 | Global declines in oceanic nitrification rates as a consequence of ocean acidification显示文摘 | Beman J M Chow C E King A L | 2011 | Proceedings of the National Academy of Sciences2011，108，1： | 1 |
| 15 | Inhibition of N2 fixation in soybean is asso- ciated with elevated ureides and amino acids 显示文摘 | King C A Purcell L C | 2005 | Plant Physiolo- gy2005，137，： | 1 |
| 16 | Genes specifically ex-pressed at growth arrest of mammalian cells 显示文摘 | Schneider C King RM Philipson L | 1988 | Cell1988，54，6： | 1 |
| 17 | Risk factors of entero- virus 71 infection and associated Hand, Foot, and Mouth Disease/ HerPangina in children during an epidemic in Taiwan 显示文摘 | CHANG L Y KING C C HSU K H | 2002 | Pediat- rics2002，109，6： | 1 |
| 18 | Introgression of salt-tolerance genes from Trinopyrum bessarabicum into wheat显示文摘 | KING I P FORSTER B P LAW C L | 1997 | New Phytol1997，137，： | 1 |
| 19 | Nitrogen and Phosphorus in Surface runoff and sediment from a Wheat - pea rotation in Northeastern Oregon 显示文摘 | Douglas C L King K A Zuzel J F | 1998 | Journal of Environment Quality1998，27，5： | 1 |
| 20 | LIN28B fosters colon cancer migration, invasion and transformation through let-7-dependent and -independent mechanisms显示文摘 | KING C E WANG L WINOGRAD R MADISON B B | 2011 | Oncogene2011，30，： | 1 |
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