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Items: 1 to 20 of 93

1.

Establishment of a knock-in mouse model with the SLC26A4 c.919-2A>G mutation and characterization of its pathology.

Lu YC, Wu CC, Shen WS, Yang TH, Yeh TH, Chen PJ, Yu IS, Lin SW, Wong JM, Chang Q, Lin X, Hsu CJ.

PLoS One. 2011;6(7):e22150. doi: 10.1371/journal.pone.0022150. Epub 2011 Jul 21.

2.

Differences in the pathogenicity of the p.H723R mutation of the common deafness-associated SLC26A4 gene in humans and mice.

Lu YC, Wu CC, Yang TH, Lin YH, Yu IS, Lin SW, Chang Q, Lin X, Wong JM, Hsu CJ.

PLoS One. 2013 Jun 3;8(6):e64906. doi: 10.1371/journal.pone.0064906. Print 2014.

3.

Progressive irreversible hearing loss is caused by stria vascularis degeneration in an Slc26a4-insufficient mouse model of large vestibular aqueduct syndrome.

Ito T, Nishio A, Wangemann P, Griffith AJ.

Neuroscience. 2015 Dec 3;310:188-97. doi: 10.1016/j.neuroscience.2015.09.016. Epub 2015 Sep 9.

PMID:
26363152
4.

Macrophage invasion contributes to degeneration of stria vascularis in Pendred syndrome mouse model.

Jabba SV, Oelke A, Singh R, Maganti RJ, Fleming S, Wall SM, Everett LA, Green ED, Wangemann P.

BMC Med. 2006 Dec 22;4:37.

5.

Slc26a4-insufficiency causes fluctuating hearing loss and stria vascularis dysfunction.

Ito T, Li X, Kurima K, Choi BY, Wangemann P, Griffith AJ.

Neurobiol Dis. 2014 Jun;66:53-65. doi: 10.1016/j.nbd.2014.02.002. Epub 2014 Feb 19.

6.

Mutations of KCNJ10 together with mutations of SLC26A4 cause digenic nonsyndromic hearing loss associated with enlarged vestibular aqueduct syndrome.

Yang T, Gurrola JG 2nd, Wu H, Chiu SM, Wangemann P, Snyder PM, Smith RJ.

Am J Hum Genet. 2009 May;84(5):651-7. doi: 10.1016/j.ajhg.2009.04.014. Epub 2009 May 7.

7.

SLC26A4 targeted to the endolymphatic sac rescues hearing and balance in Slc26a4 mutant mice.

Li X, Sanneman JD, Harbidge DG, Zhou F, Ito T, Nelson R, Picard N, Chambrey R, Eladari D, Miesner T, Griffith AJ, Marcus DC, Wangemann P.

PLoS Genet. 2013;9(7):e1003641. doi: 10.1371/journal.pgen.1003641. Epub 2013 Jul 11.

8.

Extremely discrepant mutation spectrum of SLC26A4 between Chinese patients with isolated Mondini deformity and enlarged vestibular aqueduct.

Huang S, Han D, Yuan Y, Wang G, Kang D, Zhang X, Yan X, Meng X, Dong M, Dai P.

J Transl Med. 2011 Sep 30;9:167. doi: 10.1186/1479-5876-9-167.

9.

Molecular etiology of hearing impairment in Inner Mongolia: mutations in SLC26A4 gene and relevant phenotype analysis.

Dai P, Yuan Y, Huang D, Zhu X, Yu F, Kang D, Yuan H, Wu B, Han D, Wong LJ.

J Transl Med. 2008 Nov 30;6:74. doi: 10.1186/1479-5876-6-74.

10.
11.

Atrophic thyroid follicles and inner ear defects reminiscent of cochlear hypothyroidism in Slc26a4-related deafness.

Dror AA, Lenz DR, Shivatzki S, Cohen K, Ashur-Fabian O, Avraham KB.

Mamm Genome. 2014 Aug;25(7-8):304-16. doi: 10.1007/s00335-014-9515-1. Epub 2014 Apr 24.

PMID:
24760582
12.
13.

[Screening of SLC26A4 (PDS) gene mutation in cochlear implant recipients with inner ear malformation].

Chen DY, Chen XW, Jin X, Zuo J, Wei CG, Cao KL, Fang FD.

Zhonghua Yi Xue Za Zhi. 2007 Oct 30;87(40):2820-4. Chinese.

PMID:
18167283
14.

Mouse model of enlarged vestibular aqueducts defines temporal requirement of Slc26a4 expression for hearing acquisition.

Choi BY, Kim HM, Ito T, Lee KY, Li X, Monahan K, Wen Y, Wilson E, Kurima K, Saunders TL, Petralia RS, Wangemann P, Friedman TB, Griffith AJ.

J Clin Invest. 2011 Nov;121(11):4516-25. doi: 10.1172/JCI59353. Epub 2011 Oct 3.

15.

Loss of cochlear HCO3- secretion causes deafness via endolymphatic acidification and inhibition of Ca2+ reabsorption in a Pendred syndrome mouse model.

Wangemann P, Nakaya K, Wu T, Maganti RJ, Itza EM, Sanneman JD, Harbidge DG, Billings S, Marcus DC.

Am J Physiol Renal Physiol. 2007 May;292(5):F1345-53. Epub 2007 Feb 13.

16.

Phenotypic analyses and mutation screening of the SLC26A4 and FOXI1 genes in 101 Taiwanese families with bilateral nonsyndromic enlarged vestibular aqueduct (DFNB4) or Pendred syndrome.

Wu CC, Lu YC, Chen PJ, Yeh PL, Su YN, Hwu WL, Hsu CJ.

Audiol Neurootol. 2010;15(1):57-66. doi: 10.1159/000231567. Epub 2009 Aug 1.

PMID:
19648736
18.
19.

Audiologic presentation of enlargement of the vestibular aqueduct according to the SLC26A4 genotypes.

Rah YC, Kim AR, Koo JW, Lee JH, Oh SH, Choi BY.

Laryngoscope. 2015 Jun;125(6):E216-22. doi: 10.1002/lary.25079. Epub 2014 Dec 8.

PMID:
25488846
20.

Mutational analysis of the SLC26A4 gene in Chinese sporadic nonsyndromic hearing-impaired children.

Hu X, Liang F, Zhao M, Gong A, Berry ER, Shi Y, Wang Y, Chen Y, Liu A, Qu C.

Int J Pediatr Otorhinolaryngol. 2012 Oct;76(10):1474-80. doi: 10.1016/j.ijporl.2012.06.027. Epub 2012 Jul 15.

PMID:
22796198
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