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There are 41318 results for: content related to: Response to: The c.−103T>C variant in the 5′-UTR of SLC26A4 gene: a pathogenic mutation or coincidental polymorphism?

  1. The c.−103T>C variant in the 5′-UTR of SLC26A4 gene: a pathogenic mutation or coincidental polymorphism?

    Human Mutation

    Volume 30, Issue 10, October 2009, Pages: 1469–1470, Tao Yang and Richard J.H. Smith

    Article first published online : 28 SEP 2009, DOI: 10.1002/humu.21097

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    The Slc26a4 transporter functions as an electroneutral Cl/I/HCO3 exchanger: role of Slc26a4 and Slc26a6 in I and HCO3 secretion and in regulation of CFTR in the parotid duct

    The Journal of Physiology

    Volume 586, Issue 16, August 2008, Pages: 3813–3824, Nikolay Shcheynikov, Dongki Yang, Youxue Wang, Weizong Zeng, Lawrence P. Karniski, Insuk So, Susan M. Wall and Shmuel Muallem

    Article first published online : 18 AUG 2008, DOI: 10.1113/jphysiol.2008.154468

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    Spectrum and Frequency of SLC26A4 Mutations Among Czech Patients with Early Hearing Loss with and without Enlarged Vestibular Aqueduct (EVA)

    Annals of Human Genetics

    Volume 74, Issue 4, July 2010, Pages: 299–307, Radka Pourová, Petr Janoušek, Michal Jurovčík, Marcela Dvořáková, Marcela Malíková, Dagmar Rašková, Olga Bendová, Emanuela Leonardi, Alessandra Murgia, Zdenek Kabelka, Jaromír Astl and Pavel Seeman

    Article first published online : 17 JUN 2010, DOI: 10.1111/j.1469-1809.2010.00581.x

  4. Two missense mutations in SLC26A4 gene: a molecular and functional study

    Clinical Genetics

    Volume 78, Issue 1, July 2010, Pages: 74–80, I Ben Rebeh, N Yoshimi, H Hadj-Kacem, S Yanohco, B Hammami, M Mnif, M Araki, A Ghorbel, H Ayadi, S Masmoudi and H Miyazaki

    Article first published online : 2 DEC 2009, DOI: 10.1111/j.1399-0004.2009.01360.x

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

    The Laryngoscope

    Volume 125, Issue 6, June 2015, Pages: E216–E222, Yoon C. Rah, Ah R. Kim, Ja-Won Koo, Jun H. Lee, Seung-ha Oh and Byung Y. Choi

    Article first published online : 8 DEC 2014, DOI: 10.1002/lary.25079

  6. Developmental expression of solute carrier family 26A member 4 (SLC26A4/pendrin) during amelogenesis in developing rodent teeth

    European Journal of Oral Sciences

    Volume 119, Issue s1, December 2011, Pages: 185–192, Antonius L. J. J. Bronckers, Jing Guo, Behrouz Zandieh-Doulabi, Theodore J. Bervoets, Donacian M. Lyaruu, Xiangming Li, Philine Wangemann and Pamela DenBesten

    Article first published online : 13 JAN 2012, DOI: 10.1111/j.1600-0722.2011.00901.x

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

    Human Mutation

    Volume 30, Issue 4, April 2009, Pages: 599–608, Byung Yoon Choi, Andrew K. Stewart, Anne C. Madeo, Shannon P. Pryor, Suzanne Lenhard, Rick Kittles, David Eisenman, H. Jeffrey Kim, John Niparko, James Thomsen, Kathleen S. Arnos, Walter E. Nance, Kelly A. King, Christopher K. Zalewski, Carmen C. Brewer, Thomas Shawker, James C. Reynolds, John A. Butman, Lawrence P. Karniski, Seth L. Alper and Andrew J. Griffith

    Article first published online : 8 FEB 2009, DOI: 10.1002/humu.20884

  8. Correlation between genotype and phenotype in patients with bi-allelic SLC26A4 mutations

    Clinical Genetics

    Volume 86, Issue 3, September 2014, Pages: 270–275, H.J. Lee, J. Jung, J.W. Shin, M.H. Song, S.H. Kim, J.-H. Lee, K.-A. Lee, S. Shin, U.-K. Kim, J. Bok, K.-Y. Lee, J.Y. Choi and H.J. Park

    Article first published online : 3 OCT 2013, DOI: 10.1111/cge.12273

  9. Atypical patterns of segregation of familial enlargement of the vestibular aqueduct

    The Laryngoscope

    Julie A. Muskett, Parna Chattaraj, John F. Heneghan, Fabian R. Reimold, Boris E. Shmukler, Carmen C. Brewer, Kelly A. King, Christopher K. Zalewski, Thomas H. Shawker, John A. Butman, Margaret A. Kenna, Wade W. Chien, Seth L. Alper and Andrew J. Griffith

    Article first published online : 20 OCT 2015, DOI: 10.1002/lary.25737

  10. SLC26A4 mutation frequency and spectrum in 109 Danish Pendred syndrome/DFNB4 probands and a report of nine novel mutations

    Clinical Genetics

    Volume 84, Issue 4, October 2013, Pages: 388–391, ND Rendtorff, I Schrijver, M Lodahl, J Rodriguez-Paris, T Johnsen, EC Hansén, LAA Nickelsen, Z Tümer, T Fagerheim, R Wetke and L Tranebjærg

    Article first published online : 22 JAN 2013, DOI: 10.1111/cge.12074

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    Slc26a6: a cardiac chloride–hydroxyl exchanger and predominant chloride–bicarbonate exchanger of the mouse heart

    The Journal of Physiology

    Volume 561, Issue 3, December 2004, Pages: 721–734, Bernardo V. Alvarez, Dawn M. Kieller, Anita L. Quon, Daniel Markovich and Joseph R. Casey

    Article first published online : 10 DEC 2004, DOI: 10.1113/jphysiol.2004.077339

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    Diverse transport modes by the solute carrier 26 family of anion transporters

    The Journal of Physiology

    Volume 587, Issue 10, May 2009, Pages: 2179–2185, Ehud Ohana, Dongki Yang, Nikolay Shcheynikov and Shmuel Muallem

    Article first published online : 14 MAY 2009, DOI: 10.1113/jphysiol.2008.164863

  13. Evolutionary insights into the unique electromotility motor of mammalian outer hair cells

    Evolution & Development

    Volume 10, Issue 3, May/June 2008, Pages: 300–315, Oseremen E. Okoruwa, Michael D. Weston, Divvya C. Sanjeevi, Amanda R. Millemon, Bernd Fritzsch, Richard Hallworth and Kirk W. Beisel

    Article first published online : 4 MAY 2008, DOI: 10.1111/j.1525-142X.2008.00239.x

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    Pendred syndrome and DFNB4-mutation screening of SLC26A4 by denaturing high-performance liquid chromatography and the identification of eleven novel mutations

    American Journal of Medical Genetics Part A

    Volume 124A, Issue 1, 1 January 2004, Pages: 1–9, Sai Prasad, Karen A. Kölln, Robert A. Cucci, Richard C. Trembath, Guy Van Camp and Richard J.H. Smith

    Article first published online : 18 JUN 2003, DOI: 10.1002/ajmg.a.20272

  15. Functional analysis of nonsynonymous single nucleotide polymorphisms in human SLC26A9

    Human Mutation

    Volume 33, Issue 8, August 2012, Pages: 1275–1284, An-Ping Chen, Min-Hwang Chang and Michael F. Romero

    Article first published online : 7 JUN 2012, DOI: 10.1002/humu.22107

  16. Molecular etiology of hearing impairment associated with nonsyndromic enlarged vestibular aqueduct in East China

    American Journal of Medical Genetics Part A

    Volume 161, Issue 9, September 2013, Pages: 2226–2233, Yongchuan Chai, Zhiwu Huang, Zheng Tao, Xiaohua Li, Lei Li, Yun Li, Hao Wu and Tao Yang

    Article first published online : 5 AUG 2013, DOI: 10.1002/ajmg.a.36068

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    SLC26A9 is a Cl channel regulated by the WNK kinases

    The Journal of Physiology

    Volume 584, Issue 1, October 2007, Pages: 333–345, Michael R. Dorwart, Nikolay Shcheynikov, Youxue Wang, Steve Stippec and Shmuel Muallem

    Article first published online : 28 SEP 2007, DOI: 10.1113/jphysiol.2007.135855

  18. Intrafamilial phenotypic variability in families with biallelic SLC26A4 mutations

    The Laryngoscope

    Volume 124, Issue 5, May 2014, Pages: E194–E202, Mee Hyun Song, Joong-Wook Shin, Hong-Joon Park, Kyung-A Lee, Yoonjung Kim, Un-Kyung Kim, Ju Hyun Jeon and Jae Young Choi

    Article first published online : 13 DEC 2013, DOI: 10.1002/lary.24504

  19. A distinct spectrum of SLC26A4 mutations in patients with enlarged vestibular aqueduct in China

    Clinical Genetics

    Volume 72, Issue 3, September 2007, Pages: 245–254, Q-J Wang, Y-L Zhao, S-Q Rao, Y-F Guo, H Yuan, L Zong, J Guan, B-C Xu, D-Y Wang, M-K Han, L Lan, S-Q Zhai and Y Shen

    Article first published online : 13 AUG 2007, DOI: 10.1111/j.1399-0004.2007.00862.x

  20. Subgroups of enlarged vestibular aqueduct in relation to SLC26A4 mutations and hearing loss

    The Laryngoscope

    Volume 124, Issue 4, April 2014, Pages: E134–E140, Yasuhide Okamoto, Hideki Mutai, Atsuko Nakano, Yukiko Arimoto, Tomoko Sugiuchi, Sawako Masuda, Noriko Morimoto, Hirokazu Sakamoto, Noboru Ogahara, Akira Takagi, Hidenobu Taiji, Kimitaka Kaga, Kaoru Ogawa and Tatsuo Matsunaga

    Article first published online : 17 DEC 2013, DOI: 10.1002/lary.24368