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Results: 1 to 20 of 117

1.

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.

PMID:
23874234
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Endolymphatic Na⁺ and K⁺ concentrations during cochlear growth and enlargement in mice lacking Slc26a4/pendrin.

Li X, Zhou F, Marcus DC, Wangemann P.

PLoS One. 2013 May 31;8(5):e65977. doi: 10.1371/journal.pone.0065977. Print 2013.

PMID:
23741519
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

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.

PMID:
21965328
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Failure of fluid absorption in the endolymphatic sac initiates cochlear enlargement that leads to deafness in mice lacking pendrin expression.

Kim HM, Wangemann P.

PLoS One. 2010 Nov 17;5(11):e14041. doi: 10.1371/journal.pone.0014041.

PMID:
21103348
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Mouse models for pendrin-associated loss of cochlear and vestibular function.

Wangemann P.

Cell Physiol Biochem. 2013;32(7):157-65. doi: 10.1159/000356635. Epub 2013 Dec 18. Review.

PMID:
24429822
[PubMed - indexed for MEDLINE]
6.

Ephrin-B2 governs morphogenesis of endolymphatic sac and duct epithelia in the mouse inner ear.

Raft S, Andrade LR, Shao D, Akiyama H, Henkemeyer M, Wu DK.

Dev Biol. 2014 Jun 1;390(1):51-67. doi: 10.1016/j.ydbio.2014.02.019. Epub 2014 Feb 26.

PMID:
24583262
[PubMed - indexed for MEDLINE]
Free Article
7.

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.

PMID:
17299139
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Hypo-functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: genotype-phenotype correlation or coincidental polymorphisms?

Choi BY, Stewart AK, Madeo AC, Pryor SP, Lenhard S, Kittles R, Eisenman D, Kim HJ, Niparko J, Thomsen J, Arnos KS, Nance WE, King KA, Zalewski CK, Brewer CC, Shawker T, Reynolds JC, Butman JA, Karniski LP, Alper SL, Griffith AJ.

Hum Mutat. 2009 Apr;30(4):599-608. doi: 10.1002/humu.20884.

PMID:
19204907
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Hearing loss associated with enlargement of the vestibular aqueduct: mechanistic insights from clinical phenotypes, genotypes, and mouse models.

Griffith AJ, Wangemann P.

Hear Res. 2011 Nov;281(1-2):11-7. doi: 10.1016/j.heares.2011.05.009. Epub 2011 Jun 6. Review.

PMID:
21669267
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Phenotypes of SLC26A4 gene mutations: Pendred syndrome and hypoacusis with enlarged vestibular aqueduct.

Maciaszczyk K, Lewiński A.

Neuro Endocrinol Lett. 2008 Feb;29(1):29-36. Review.

PMID:
18283249
[PubMed - indexed for MEDLINE]
11.

Epithelial cell stretching and luminal acidification lead to a retarded development of stria vascularis and deafness in mice lacking pendrin.

Kim HM, Wangemann P.

PLoS One. 2011 Mar 14;6(3):e17949. doi: 10.1371/journal.pone.0017949.

PMID:
21423764
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

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.

PMID:
24561068
[PubMed - indexed for MEDLINE]
13.

Distinct and novel SLC26A4/Pendrin mutations in Chinese and U.S. patients with nonsyndromic hearing loss.

Dai P, Stewart AK, Chebib F, Hsu A, Rozenfeld J, Huang D, Kang D, Lip V, Fang H, Shao H, Liu X, Yu F, Yuan H, Kenna M, Miller DT, Shen Y, Yang W, Zelikovic I, Platt OS, Han D, Alper SL, Wu BL.

Physiol Genomics. 2009 Aug 7;38(3):281-90. doi: 10.1152/physiolgenomics.00047.2009. Epub 2009 Jun 9. Erratum in: Physiol Genomics. 2010 Feb;40(3):216.

PMID:
19509082
[PubMed - indexed for MEDLINE]
Free Article
14.

Mice deficient in H+-ATPase a4 subunit have severe hearing impairment associated with enlarged endolymphatic compartments within the inner ear.

Lorente-Cánovas B, Ingham N, Norgett EE, Golder ZJ, Karet Frankl FE, Steel KP.

Dis Model Mech. 2013 Mar;6(2):434-42. doi: 10.1242/dmm.010645. Epub 2012 Oct 12.

PMID:
23065636
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

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.

PMID:
19426954
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

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.

PMID:
21811566
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Localization and functional studies of pendrin in the mouse inner ear provide insight about the etiology of deafness in pendred syndrome.

Royaux IE, Belyantseva IA, Wu T, Kachar B, Everett LA, Marcus DC, Green ED.

J Assoc Res Otolaryngol. 2003 Sep;4(3):394-404.

PMID:
14690057
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

The role of pendrin in the development of the murine inner ear.

Wangemann P.

Cell Physiol Biochem. 2011;28(3):527-34. doi: 10.1159/000335113. Epub 2011 Nov 18. Review.

PMID:
22116367
[PubMed - indexed for MEDLINE]
19.

Hereditary hearing loss with thyroid abnormalities.

Choi BY, Muskett J, King KA, Zalewski CK, Shawker T, Reynolds JC, Butman JA, Brewer CC, Stewart AK, Alper SL, Griffith AJ.

Adv Otorhinolaryngol. 2011;70:43-9. doi: 10.1159/000322469. Epub 2011 Feb 24. Review.

PMID:
21358184
[PubMed - indexed for MEDLINE]
20.

Molecular epidemiology and functional assessment of novel allelic variants of SLC26A4 in non-syndromic hearing loss patients with enlarged vestibular aqueduct in China.

Yuan Y, Guo W, Tang J, Zhang G, Wang G, Han M, Zhang X, Yang S, He DZ, Dai P.

PLoS One. 2012;7(11):e49984. doi: 10.1371/journal.pone.0049984. Epub 2012 Nov 21.

PMID:
23185506
[PubMed - indexed for MEDLINE]
Free PMC Article
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