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Tricellulin deficiency affects tight junction architecture and cochlear hair cells.
Published in:
Journal of Clinical Investigation, 2013, v. 123, n. 9, p. 4036, doi. 10.1172/JCI69031
By:
- Nayak, Gowri;
- Lee, Sue I.;
- Yousaf, Rizwan;
- Edelmann, Stephanie E.;
- Trincot, Claire;
- Van Itallie, Christina M.;
- Sinha, Ghanshyam P.;
- Rafeeq, Maria;
- Jones, Sherri M.;
- Belyantseva, Inna A.;
- Anderson, James M.;
- Forge, Andrew;
- Frolenkov, Gregory I.;
- Riazuddin, Saima
Publication type:
Article
Human deafness-associated variants alter the dynamics of key molecules in hair cell stereocilia F-actin cores.
Published in:
Human Genetics, 2022, v. 141, n. 3/4, p. 363, doi. 10.1007/s00439-021-02304-0
By:
- Miyoshi, Takushi;
- Belyantseva, Inna A.;
- Kitajiri, Shin-ichiro;
- Miyajima, Hiroki;
- Nishio, Shin-ya;
- Usami, Shin-ichi;
- Kim, Bong Jik;
- Choi, Byung Yoon;
- Omori, Koichi;
- Shroff, Hari;
- Friedman, Thomas B.
Publication type:
Article
Auditory mechanotransduction in the absence of functional myosin-XVa.
Published in:
Journal of Physiology, 2006, v. 576, n. 3, p. 801, doi. 10.1113/jphysiol.2006.118547
By:
- Stepanyan, Ruben;
- Belyantseva, Inna A.;
- Griffith, Andrew J.;
- Friedman, Thomas B.;
- Frolenkov, Gregory I.
Publication type:
Article
The 133-kDa N-terminal domain enables myosin 15 to maintain mechanotransducing stereocilia and is essential for hearing.
Published in:
eLife, 2015, p. 1, doi. 10.7554/eLife.08627
By:
- Qing Fang;
- Indzhykulian, Artur A.;
- Mustapha, Mirna;
- Riordan, Gavin P.;
- Dolan, David F.;
- Friedman, Thomas B.;
- Belyantseva, Inna A.;
- Frolenkov, Gregory I.;
- Camper, Sally A.;
- Bird, Jonathan E.
Publication type:
Article
Phenotypic variability of CLDN14 mutations causing DFNB29 hearing loss in the Pakistani population.
Published in:
Journal of Human Genetics, 2013, v. 58, n. 9, p. 641, doi. 10.1038/jhg.2013.85
By:
- Bashir, Zil-e-Huma;
- Latief, Noreen;
- Belyantseva, Inna A;
- Iqbal, Farheena;
- Amer Riazuddin, Sheikh;
- Khan, Shaheen N;
- Friedman, Thomas B;
- Riazuddin, Sheikh;
- Riazuddin, Saima
Publication type:
Article
Phenotypic variability of CLDN14 mutations causing DFNB29 hearing loss in the Pakistani population.
Published in:
Journal of Human Genetics, 2013, v. 58, n. 2, p. 102, doi. 10.1038/jhg.2012.143
By:
- Bashir, Zil-e-Huma;
- Latief, Noreen;
- Belyantseva, Inna A;
- Iqbal, Farheena;
- Amer Riazuddin, Sheikh;
- Khan, Shaheen N;
- Friedman, Thomas B;
- Riazuddin, Sheikh;
- Riazuddin, Saima
Publication type:
Article
Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48.
Published in:
Nature Genetics, 2012, v. 44, n. 11, p. 1265, doi. 10.1038/ng.2426
By:
- Riazuddin, Saima;
- Belyantseva, Inna A;
- Giese, Arnaud P J;
- Lee, Kwanghyuk;
- Indzhykulian, Artur A;
- Nandamuri, Sri Pratima;
- Yousaf, Rizwan;
- Sinha, Ghanshyam P;
- Lee, Sue;
- Terrell, David;
- Hegde, Rashmi S;
- Ali, Rana A;
- Anwar, Saima;
- Andrade-Elizondo, Paula B;
- Sirmaci, Asli;
- Parise, Leslie V;
- Basit, Sulman;
- Wali, Abdul;
- Ayub, Muhammad;
- Ansar, Muhammad
Publication type:
Article
Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans.
Published in:
Nature Genetics, 2008, v. 40, n. 11, p. 1335, doi. 10.1038/ng.245
By:
- Ahmed, Zubair M;
- Masmoudi, Saber;
- Kalay, Ersan;
- Belyantseva, Inna A;
- Mosrati, Mohamed Ali;
- Collin, Rob W J;
- Riazuddin, Saima;
- Hmani-Aifa, Mounira;
- Venselaar, Hanka;
- Kawar, Mayya N;
- Tlili, Abdelaziz;
- van der Zwaag, Bert;
- Khan, Shahid Y;
- Ayadi, Leila;
- Riazuddin, S Amer;
- Morell, Robert J;
- Griffith, Andrew J;
- Charfedine, Ilhem;
- Çaylan, Refik;
- Oostrik, Jaap
Publication type:
Article
Mutations in Cdh23, encoding a new type of cadherin, cause stereocilia disorganization in waltzer, the mouse model for Usher syndrome type 1D.
Published in:
Nature Genetics, 2001, v. 27, n. 1, p. 103, doi. 10.1038/83660
By:
- Palma, Federica Di;
- Holme, Ralph H.;
- Bryda, Elizabeth C.;
- Belyantseva, Inna A.;
- Pellegrino, Richard;
- Kachar, Bechara;
- Steel, Karen P.;
- Noben-Trauth, Konrad
Publication type:
Article
Genetic insights into the morphogenesis of inner ear hair cells.
Published in:
Nature Reviews Genetics, 2004, v. 5, n. 7, p. 489, doi. 10.1038/nrg1377
By:
- Frolenkov, Gregory I.;
- Belyantseva, Inna A.;
- Friedman, Thomas B.;
- Griffith, Andrew J.
Publication type:
Article
Twinfilin 2 Regulates Actin Filament Lengths in Cochlear Stereocilia.
Published in:
Journal of Neuroscience, 2009, v. 29, n. 48, p. 15083, doi. 10.1523/JNEUROSCI.2782-09.2009
By:
- Peng, Anthony W.;
- Belyantseva, Inna A.;
- Hsu, Patrick D.;
- Friedman, Thomas B.;
- Heller, Stefan
Publication type:
Article
The Tip-Link Antigen, a Protein Associated with the Transduction Complex of Sensory Hair Cells, Is Protocadherin-15.
Published in:
Journal of Neuroscience, 2006, v. 26, n. 26, p. 7022, doi. 10.1523/JNEUROSCI.1163-06.2006
By:
- Ahmed, Zubair M.;
- Goodyear, Richard;
- Riazuddin, Saima;
- Lagziel, Ayala;
- Legan, P. Kevin;
- Behra, Martine;
- Burgess, Shawn M.;
- Lilley, Kathryn S.;
- Wilcox, Edward R.;
- Riazuddin, Sheikh;
- Griffith, Andrew J.;
- Frolenkov, Gregory I.;
- Belyantseva, Inna A.;
- Richardson, Guy P.;
- Friedman, Thomas B.
Publication type:
Article
Myosin-XVa is required for tip localization of whirlin and differential elongation of hair-cell stereocilia.
Published in:
Nature Cell Biology, 2005, v. 7, n. 2, p. 148, doi. 10.1038/ncb1219
By:
- Belyantseva, Inna A.;
- Boger, Erich T.;
- Naz, Sadaf;
- Frolenkov, Gregory I.;
- Sellers, James R.;
- Ahmed, Zubair M.;
- Griffith, Andrew J.;
- Friedman, Thomas B.
Publication type:
Article
Localization and functional studies of pendrin in the mouse inner ear provide insight about the etiology of deafness in pendred syndrome.
Published in:
2003
By:
- Royaux, Ines E.;
- Belyantseva, Inna A.;
- Wu, Tao;
- Kachar, Bechara;
- Everett, Lorraine A.;
- Marcus, Daniel C.;
- Green, Eric D.
Publication type:
journal article
Rapid renewal of auditory hair bundles.
Published in:
Nature, 2002, v. 418, n. 6900, p. 837, doi. 10.1038/418837a
By:
- Schneider, Mark E.;
- Belyantseva, Inna A.;
- Azevedo, Ricardo B.;
- Kachar, Bechara
Publication type:
Article
The phenotypic landscape of a Tbc1d24 mutant mouse includes convulsive seizures resembling human early infantile epileptic encephalopathy.
Published in:
Human Molecular Genetics, 2019, v. 28, n. 9, p. 1530, doi. 10.1093/hmg/ddy445
By:
- Tona, Risa;
- Chen, Wenqian;
- Nakano, Yoko;
- Reyes, Laura D;
- Petralia, Ronald S;
- Wang, Ya-Xian;
- Starost, Matthew F;
- Wafa, Talah T;
- Morell, Robert J;
- Cravedi, Kevin D;
- Hoffmann, Johann du;
- Miyoshi, Takushi;
- Munasinghe, Jeeva P;
- Fitzgerald, Tracy S;
- Chudasama, Yogita;
- Omori, Koichi;
- Pierpaoli, Carlo;
- Banfi, Botond;
- Dong, Lijin;
- Belyantseva, Inna A
Publication type:
Article
CDC14A phosphatase is essential for hearing and male fertility in mouse and human.
Published in:
Human Molecular Genetics, 2018, v. 27, n. 5, p. 780, doi. 10.1093/hmg/ddx440
By:
- Imtiaz, Ayesha;
- Belyantseva, Inna A.;
- Beirl, Alisha J.;
- Fenollar-Ferrer, Cristina;
- Bashir, Rasheeda;
- Bukhari, Ihtisham;
- Bouzid, Amal;
- Shaukat, Uzma;
- Azaiez, Hela;
- Booth, Kevin T.;
- Kahrizi, Kimia;
- Najmabadi, Hossein;
- Maqsood, Azra;
- Wilson, Elizabeth A.;
- Fitzgerald, Tracy S.;
- Tlili, Abdelaziz;
- Olszewski, Rafal;
- Lund, Merete;
- Chaudhry, Taimur;
- Rehman, Atteeq U.
Publication type:
Article
ILDR1null mice, amodel of human deafness DFNB42, show structural aberrations of tricellular tight junctions and degeneration of auditory hair cells
Published in:
Human Molecular Genetics, 2015, v. 24, n. 3, p. 609, doi. 10.1093/hmg/ddu474
By:
- Morozko, Eva L.;
- Nishio, Ayako;
- Ingham, Neil J.;
- Chandra, Rashmi;
- Fitzgerald, Tracy;
- Martelletti, Elisa;
- Borck, Guntram;
- Wilson, Elizabeth;
- Riordan, Gavin P.;
- Wangemann, Philine;
- Forge, Andrew;
- Steel, Karen P.;
- Liddle, Rodger A.;
- Friedman, Thomas B.;
- Belyantseva, Inna A.
Publication type:
Article
Pathophysiology of human hearing loss associated with variants in myosins.
Published in:
Frontiers in Physiology, 2024, p. 01, doi. 10.3389/fphys.2024.1374901
By:
- Miyoshi, Takushi;
- Belyantseva, Inna A.;
- Sajeevadathan, Mrudhula;
- Friedman, Thomas B.
Publication type:
Article
Stability and plasticity of primary afferent projections following nerve regeneration and central degeneration.
Published in:
European Journal of Neuroscience, 1999, v. 11, n. 2, p. 457, doi. 10.1046/j.1460-9568.1999.00458.x
By:
- Belyantseva, Inna A.;
- Lewin, Gary R.
Publication type:
Article
Molecular Remodeling of Tip Links Underlies Mechanosensory Regeneration in Auditory Hair Cells.
Published in:
PLoS Biology, 2013, v. 11, n. 6, p. 1, doi. 10.1371/journal.pbio.1001583
By:
- Indzhykulian, Artur A.;
- Stepanyan, Ruben;
- Nelina, Anastasiia;
- Spinelli, Kateri J.;
- Ahmed, Zubair M.;
- Belyantseva, Inna A.;
- Friedman, Thomas B.;
- Barr-Gillespie, Peter G.;
- Frolenkov, Gregory I.
Publication type:
Article
Variants of human CLDN9 cause mild to profound hearing loss.
Published in:
Human Mutation, 2021, v. 42, n. 10, p. 1321, doi. 10.1002/humu.24260
By:
- Ramzan, Memoona;
- Philippe, Christophe;
- Belyantseva, Inna A.;
- Nakano, Yoko;
- Fenollar‐Ferrer, Cristina;
- Tona, Risa;
- Yousaf, Rizwan;
- Basheer, Rasheeda;
- Imtiaz, Ayesha;
- Faridi, Rabia;
- Munir, Zunaira;
- Idrees, Hafiza;
- Salman, Midhat;
- Nambot, Sophie;
- Vitobello, Antonio;
- Kartti, Souad;
- Zarrik, Oumaima;
- Witmer, P. Dane;
- Sobreria, Nara;
- Ibrahimi, Azeddine
Publication type:
Article
Mutation spectrum of MYO7A and evaluation of a novel nonsyndromic deafness DFNB2 allele with residual function.
Published in:
Human Mutation, 2008, v. 29, n. 4, p. 502, doi. 10.1002/humu.20677
By:
- Riazuddin, Saima;
- Nazli, Sabiha;
- Ahmed, Zubair M.;
- Yang, Yi;
- Zulfiqar, Fareeha;
- Shaikh, Rehan S.;
- Zafar, Ahmed U.;
- Khan, Shaheen N.;
- Sabar, Farooq;
- Javid, Fouzia T.;
- Wilcox, Edward R.;
- Tsilou, Ekaterini;
- Boger, Erich T.;
- Sellers, James R.;
- Belyantseva, Inna A.;
- Riazuddin, Sheikh;
- Friedman, Thomas B.
Publication type:
Article
PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23.
Published in:
Human Molecular Genetics, 2003, v. 12, n. 24, p. 3215, doi. 10.1093/hmg/ddg358
By:
- Ahmed, Zubair M.;
- Riazuddin, Saima;
- Ahmad, Jamil;
- Bernstein, Steve L.;
- Guo, Yan;
- Sabar, Muhammad F.;
- Sieving, Paul;
- Riazuddin, Sheikh;
- Griffith, Andrew J.;
- Friedman, Thomas B.;
- Belyantseva, Inna A.;
- Wilcox, Edward R.
Publication type:
Article
Claudin 14 knockout mice, a model for autosomal recessive deafness DFNB29, are deaf due to cochlear hair cell degeneration.
Published in:
Human Molecular Genetics, 2003, v. 12, n. 16, p. 2049, doi. 10.1093/hmg/ddg210
By:
- Ben-Yosef, Tamar;
- Belyantseva, Inna A.;
- Saunders, Thomas L.;
- Hughes, Elizabeth D.;
- Kawamoto, Kohei;
- Van Itallie, Christina M.;
- Beyer, Lisa A.;
- Halsey, Kärin;
- Gardner, Donald J.;
- Wilcox, Edward R.;
- Rasmussen, Julia;
- Anderson, James M.;
- Dolan, David F.;
- Forge, Andrew;
- Raphael, Yehoash;
- Camper, Sally A.;
- Friedman, Thomas B.
Publication type:
Article
Targeted disruption of mouse Pds provides insight about the inner-ear defects encountered in Pendred syndrome.
Published in:
Human Molecular Genetics, 2001, v. 10, n. 2, p. 153, doi. 10.1093/hmg/10.2.153
By:
- Everett, Lorraine A.;
- Belyantseva, Inna A.;
- Noben-Trauth, Konrad;
- Cantos, Raquel;
- Chen, Amy;
- Thakkar, Sneha I.;
- Hoogstraten-Miller, Shelley L.;
- Kachar, Bechara;
- Wu, Doris K.;
- Green, Eric D.
Publication type:
Article
Targeted disruption of mouse Pds provides insight about the inner-ear defects encountered in Pendred syndrome.
Published in:
Human Molecular Genetics, 2001, v. 10, n. 2, p. 153, doi. 10.1093/hmg/10.2.153
By:
- Everett, Lorraine A.;
- Belyantseva, Inna A.;
- Noben-Trauth, Konrad;
- Cantos, Raquel;
- Chen, Amy;
- Thakkar, Sneha I.;
- Hoogstraten-Miller, Shelley L.;
- Kachar, Bechara;
- Wu, Doris K.;
- Green, Eric D.
Publication type:
Article
Mouse Models of Human Pathogenic Variants of TBC1D24 Associated with Non-Syndromic Deafness DFNB86 and DFNA65 and Syndromes Involving Deafness.
Published in:
Genes, 2020, v. 11, n. 10, p. 1122, doi. 10.3390/genes11101122
By:
- Tona, Risa;
- Lopez, Ivan A.;
- Fenollar-Ferrer, Cristina;
- Faridi, Rabia;
- Anselmi, Claudio;
- Khan, Asma A.;
- Shahzad, Mohsin;
- Morell, Robert J.;
- Gu, Shoujun;
- Hoa, Michael;
- Dong, Lijin;
- Ishiyama, Akira;
- Belyantseva, Inna A.;
- Riazuddin, Sheikh;
- Friedman, Thomas B.
Publication type:
Article

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