PENDRED SYNDROME; PDS

Literature (4)

Literature for OMIM 274600: PENDRED SYNDROME; PDS

Xenbase Articles:
(

Denotes literature images)

Coupling modes and stoichiometry of Cl-/HCO3- exchange by slc26a3 and slc26a6., Shcheynikov N,Wang Y,Park M,Ko SB,Dorwart M,Naruse S,Thomas PJ,Muallem S, J Gen Physiol. May 1, 2006; 127(5):1540-7748.
Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations., Bockenhauer D,Stanescu HC,Bandulik S,Zdebik AA,Reichold M,Tobin J,Lieberer E,Landoure G,Arora R,Sirimanna T,Thompson D,Cross JH,Al Masri O,Tullus K,Yeung S,Anikster Y,Hubank M,Dillon MJ,Arcos-Burgos M,Knepper MA,Dobbie A,Gahl WA,Warth R,Sheridan E,Kleta R,Sterner C,Klootwijk E,van't Hoff W,Feather S,Heitzmann D, N Engl J Med. May 7, 2009; 360(19):1533-4406.
Mutations of KCNJ10 together with mutations of SLC26A4 cause digenic nonsyndromic hearing loss associated with enlarged vestibular aqueduct syndrome., Yang T,Gurrola JG,Wu H,Chiu SM,Wangemann P,Snyder PM,Smith RJ, Am J Hum Genet. May 1, 2009; 84(5):1537-6605.
Functional analysis of nonsynonymous single nucleotide polymorphisms in human SLC26A9., Chen AP,Chang MH,Romero MF, Hum Mutat. August 1, 2012; 33(8):1098-1004.

Coupling modes and stoichiometry of Cl-/HCO3- exchange by slc26a3 and slc26a6., Shcheynikov N,Wang Y,Park M,Ko SB,Dorwart M,Naruse S,Thomas PJ,Muallem S, J Gen Physiol. May 1, 2006; 127(5):1540-7748.

Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations., Bockenhauer D,Stanescu HC,Bandulik S,Zdebik AA,Reichold M,Tobin J,Lieberer E,Landoure G,Arora R,Sirimanna T,Thompson D,Cross JH,Al Masri O,Tullus K,Yeung S,Anikster Y,Hubank M,Dillon MJ,Arcos-Burgos M,Knepper MA,Dobbie A,Gahl WA,Warth R,Sheridan E,Kleta R,Sterner C,Klootwijk E,van't Hoff W,Feather S,Heitzmann D, N Engl J Med. May 7, 2009; 360(19):1533-4406.

Mutations of KCNJ10 together with mutations of SLC26A4 cause digenic nonsyndromic hearing loss associated with enlarged vestibular aqueduct syndrome., Yang T,Gurrola JG,Wu H,Chiu SM,Wangemann P,Snyder PM,Smith RJ, Am J Hum Genet. May 1, 2009; 84(5):1537-6605.

Functional analysis of nonsynonymous single nucleotide polymorphisms in human SLC26A9., Chen AP,Chang MH,Romero MF, Hum Mutat. August 1, 2012; 33(8):1098-1004.