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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 | Engineering yeast tran-scription machinery for improved ethanol tolerance and produc-tion显示文摘 | Alper H Moxley J Nevoigt E | | 0，，5805： | 1 |
| 3 | Complex expression of nature killer receptor genes in single natural killer cells 显示文摘 | Husain H Alper C A Yunis E J | 2002 | Immunology2002，106，3： | 1 |
| 4 | Alterations in T4 (CD,) protein and mRNA synthesis in cells infected with HIV 显示文摘 | HOXIE J A ALPERS J D RACKOWSKI J L | 1986 | Science1986，234，4780： | 1 |
| 5 | Engineering yeast transcription machinery for improved ethanol tolerance and production显示文摘 | Alper H Moxley J Nevoigt E | | 0，，5805： | 1 |
| 6 | Human renal cortical interstitial ceils with some features of smooth muscle cells participate in tubulo interstitral and crescentic glomerular injury 显示文摘 | Alpers CE Hudkins KL Floege J | 1994 | J Am Soc Nephrol1994，5，2： | 1 |
| 7 | A novel water-soluble Rh-poly-(enolate-co-vinyl-alcohol-co-vinyl acetate) catalyst for the hydroformylation of olefins显示文摘 | Chen J H Alper H | 1997 | J Am Chem Soc1997，119，： | 1 |
| 8 | Searching for medicine's sweet spot显示文摘 | Alper J | 2001 | Science2001，291，5512： | 1 |
| 9 | Differential expression of cyclin-dependent kinase inhibitors in human glomerular disease: role in podocyte proliferation and maturation显示文摘 | Shankland S J Eimer F Hudkins K L Goodpaster T D' Agati V Alpers C E | 2000 | Kidney Int2000，58，： | 1 |
| 10 | A new look at platelet-derived growth factor in renal disease显示文摘 | Floege J Eitner F Alpers CE | | 0，，01： | 1 |
| 11 | Keeping pace with genomics through combinatorial chemistry显示文摘 | Gold L Alper J | | 0，，04： | 1 |
| 12 | Probing the gold nanorod-ligand-solvent interface by plasmonie absorption and thermal decay显示文摘 | Schmidt A J Alper J D Chiesa M | 2008 | Journal of Physical Chemistry C2008，，13： | 1 |
| 13 | Geron gets green light for human trial of ES cell-derived product显示文摘 | Alper J | 2009 | Nat Biotechnol2009，27，3： | 1 |
| 14 | Evaluation of an internet support group for women with primary breast cancer显示文摘 | Winzelberg A J Classen C Alpers G W | 2003 | Cancer2003，97，5： | 1 |
| 15 | Intestinal fat- ty acid binding protein may favor differential apical fatty acid binding in the intestine显示文摘 | ALPERS D H BASS N M ENGLE M J | 2000 | BBA-Mol Cell Biol L2000，1483，3： | 1 |
| 16 | A Systematic Review of Safety Violations in Industry 显示文摘 | Alper S J Karshb B T | 2009 | Accident Analysis and Prevention2009，41，4： | 1 |
| 17 | Glomerular cells, extracellular matrix accumulation, and the development of glomerulosclerosis in the remnant kidney model 显示文摘 | FLOEGE J ALPERS C BURNS M W | 1992 | Lablnvest1992，66，： | 1 |
| 18 | Gas Molecule Adsorption in Carbonv Nanotubes and Nanotube Bundles显示文摘 | ALPER B JIE H | 2002 | Nanotechnology2002，13，： | 1 |
| 19 | Dissociation of rated emotional valence and Stroop interference in observer-rated alexithymia 显示文摘 | Mueller J Alpers GW Reim N | 2006 | J Psychosom Research2006，61，2： | 1 |
| 20 | Population genetics of the roan antelope ( Hippotragus equinus) with sugges- tions for conservation 显示文摘 | Alpers D L Van Vuuren B J Arctander P | 2004 | Mol Ecol2004，13，7： | 1 |
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