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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 | 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 |
| 3 | 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 |
| 4 | The immune response to hepatitis B vaccine in humans: Inheritance patterns in families显示文摘 | Krudkall M S Alper C A Awdeh Z | 1992 | J Exp Med1992，175，2： | 1 |
| 5 | The human immune response to hepatitis B surface antigen 显示文摘 | ALPER C A | 1995 | Exp Clin Immun1995，12，3： | 1 |
| 6 | Pathology of human dia- betic nephropathy显示文摘 | Najafian B Alpers C E Fogo A B | 2011 | Contrib Nephrol2011，170，6： | 1 |
| 7 | Renal injury from angiotensin Ⅱ mediated hypertensin显示文摘 | JOHNSON R J ALPERS C E YOSHIMURA A | 1992 | Hypertensin1992，19，： | 1 |
| 8 | The human immune respone to hepatitis B surface antigen 显示文摘 | Alper C A | 1995 | Exp Clin Immunogenet1995，12，3： | 1 |
| 9 | The welfare effects of government''''s preferences over spending and its financing显示文摘 | Alper C E Ardic O P Mumcu A Saglam I | | 0，，： | 1 |
| 10 | Liver Fibrosis: Noninvasive Diagnosis with Double Contrast Material-enhanced MR Imaging 显示文摘 | AGUIRRE D A BEHLING C A ALPER T E | 2006 | Radiology2006，239，2： | 1 |
| 11 | The fodrin-ankyrin cytoskeleton of choroid plexus pref- erentially colocalizes with apical Na^+-K^+-ATPase rather than with basolateral anion exchanger AE- 2显示文摘 | ALPER S L STUART T A SIMMONS C F | 1994 | J Clin Invest1994，93，4： | 1 |
| 12 | 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 |
| 13 | Genetic polymorphism of the third component of human complement (C'3)显示文摘 | Alper C A Propp R P | 1968 | J Clin Invest1968，47，9： | 1 |
| 14 | Pathology of human diabetic nephropathy 显示文摘 | Najafian B Alpers C E Fogo A B | 2011 | Contrib Nephrol2011，170，： | 1 |
| 15 | Pathology of human diabetic nephropathy显示文摘 | Najafian B Alpers C E Fogo A B | 2011 | Contrib Nephrol2011，170，： | 1 |
| 16 | Cellular events in the evolution of experimental diabetic nephropathy显示文摘 | YOUNG B A JOHNSON R J ALPERS C E | 1995 | Kidney Int1995，47，： | 1 |
| 17 | Relationship between the electromyographic activity of the paratubal muscles and eustachian tube opening assessed by sonotubometry and videoendoscopy显示文摘 | ALPER C M SWARTS J D SINGLA A | 2012 | Arch Otolaryngol Head Neck Surg2012，138，： | 1 |
| 18 | Mercury cycling in agricultural and managed wetlands, Yolo Bypass, California: Spatial and seasonal variations in water quality 显示文摘 | ALPERS C N FLECK J A MAR1N-DIPASQUALE M | 2014 | Sei Total Environ2014，484，： | 1 |
| 19 | Pathology of human dia- betic nephropathy显示文摘 | Najafian B Alpers C E Fogo A B | 2011 | Contrib Nephrol2011，170，： | 1 |
| 20 | Lung cancer induced in mice by the envelope protein of Jaagsiekte sheep retrovirus(JSRV) closely resembles lung cancer in sheep infected with JSRV显示文摘 | Wootton S K Metzger M J Hudkins K L Alpers C E York D DeMartini J C Miller A D | 2006 | Retrovirology2006，3，1： | 1 |
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