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Items: 1 to 50 of 55

1.

The phenotypic landscape of a Tbc1d24 mutant mouse includes convulsive seizures resembling human early infantile epileptic encephalopathy.

Tona R, Chen W, Nakano Y, Reyes LD, Petralia RS, Wang YX, Starost MF, Wafa TT, Morell RJ, Cravedi KD, du Hoffmann J, Miyoshi T, Munasinghe JP, Fitzgerald TS, Chudasama Y, Omori K, Pierpaoli C, Banfi B, Dong L, Belyantseva IA, Friedman TB.

Hum Mol Genet. 2019 May 1;28(9):1530-1547. doi: 10.1093/hmg/ddy445.

PMID:
30602030
2.

Mammalian Auditory Hair Cell Bundle Stiffness Affects Frequency Tuning by Increasing Coupling along the Length of the Cochlea.

Dewey JB, Xia A, Müller U, Belyantseva IA, Applegate BE, Oghalai JS.

Cell Rep. 2018 Jun 5;23(10):2915-2927. doi: 10.1016/j.celrep.2018.05.024.

3.

CDC14A phosphatase is essential for hearing and male fertility in mouse and human.

Imtiaz A, Belyantseva IA, Beirl AJ, Fenollar-Ferrer C, Bashir R, Bukhari I, Bouzid A, Shaukat U, Azaiez H, Booth KT, Kahrizi K, Najmabadi H, Maqsood A, Wilson EA, Fitzgerald TS, Tlili A, Olszewski R, Lund M, Chaudhry T, Rehman AU, Starost MF, Waryah AM, Hoa M, Dong L, Morell RJ, Smith RJH, Riazuddin S, Masmoudi S, Kindt KS, Naz S, Friedman TB.

Hum Mol Genet. 2018 Mar 1;27(5):780-798. doi: 10.1093/hmg/ddx440.

4.

Gene Therapy Restores Balance and Auditory Functions in a Mouse Model of Usher Syndrome.

Isgrig K, Shteamer JW, Belyantseva IA, Drummond MC, Fitzgerald TS, Vijayakumar S, Jones SM, Griffith AJ, Friedman TB, Cunningham LL, Chien WW.

Mol Ther. 2017 Mar 1;25(3):780-791. doi: 10.1016/j.ymthe.2017.01.007. Epub 2017 Feb 21.

5.

Harnessing molecular motors for nanoscale pulldown in live cells.

Bird JE, Barzik M, Drummond MC, Sutton DC, Goodman SM, Morozko EL, Cole SM, Boukhvalova AK, Skidmore J, Syam D, Wilson EA, Fitzgerald T, Rehman AU, Martin DM, Boger ET, Belyantseva IA, Friedman TB.

Mol Biol Cell. 2017 Feb 1;28(3):463-475. doi: 10.1091/mbc.E16-08-0583. Epub 2016 Dec 8.

6.

Helios(®) Gene Gun-Mediated Transfection of the Inner Ear Sensory Epithelium: Recent Updates.

Belyantseva IA.

Methods Mol Biol. 2016;1427:3-26. doi: 10.1007/978-1-4939-3615-1_1.

PMID:
27259918
7.

Autosomal-Recessive Hearing Impairment Due to Rare Missense Variants within S1PR2.

Santos-Cortez RL, Faridi R, Rehman AU, Lee K, Ansar M, Wang X, Morell RJ, Isaacson R, Belyantseva IA, Dai H, Acharya A, Qaiser TA, Muhammad D, Ali RA, Shams S, Hassan MJ, Shahzad S, Raza SI, Bashir ZE, Smith JD, Nickerson DA, Bamshad MJ; University of Washington Center for Mendelian Genomics, Riazuddin S, Ahmad W, Friedman TB, Leal SM.

Am J Hum Genet. 2016 Feb 4;98(2):331-8. doi: 10.1016/j.ajhg.2015.12.004. Epub 2016 Jan 21.

8.

Gene Therapy Restores Hair Cell Stereocilia Morphology in Inner Ears of Deaf Whirler Mice.

Chien WW, Isgrig K, Roy S, Belyantseva IA, Drummond MC, May LA, Fitzgerald TS, Friedman TB, Cunningham LL.

Mol Ther. 2016 Feb;24(1):17-25. doi: 10.1038/mt.2015.150. Epub 2015 Aug 26.

9.

The 133-kDa N-terminal domain enables myosin 15 to maintain mechanotransducing stereocilia and is essential for hearing.

Fang Q, Indzhykulian AA, Mustapha M, Riordan GP, Dolan DF, Friedman TB, Belyantseva IA, Frolenkov GI, Camper SA, Bird JE.

Elife. 2015 Aug 24;4. doi: 10.7554/eLife.08627.

10.

ILDR1 null mice, a model of human deafness DFNB42, show structural aberrations of tricellular tight junctions and degeneration of auditory hair cells.

Morozko EL, Nishio A, Ingham NJ, Chandra R, Fitzgerald T, Martelletti E, Borck G, Wilson E, Riordan GP, Wangemann P, Forge A, Steel KP, Liddle RA, Friedman TB, Belyantseva IA.

Hum Mol Genet. 2015 Feb 1;24(3):609-24. doi: 10.1093/hmg/ddu474. Epub 2014 Sep 12.

11.

Tricellulin deficiency affects tight junction architecture and cochlear hair cells.

Nayak G, Lee SI, Yousaf R, Edelmann SE, Trincot C, Van Itallie CM, Sinha GP, Rafeeq M, Jones SM, Belyantseva IA, Anderson JM, Forge A, Frolenkov GI, Riazuddin S.

J Clin Invest. 2013 Sep;123(9):4036-49. doi: 10.1172/JCI69031. Epub 2013 Aug 27.

12.

Molecular remodeling of tip links underlies mechanosensory regeneration in auditory hair cells.

Indzhykulian AA, Stepanyan R, Nelina A, Spinelli KJ, Ahmed ZM, Belyantseva IA, Friedman TB, Barr-Gillespie PG, Frolenkov GI.

PLoS Biol. 2013;11(6):e1001583. doi: 10.1371/journal.pbio.1001583. Epub 2013 Jun 11.

13.

A null mutation of mouse Kcna10 causes significant vestibular and mild hearing dysfunction.

Lee SI, Conrad T, Jones SM, Lagziel A, Starost MF, Belyantseva IA, Friedman TB, Morell RJ.

Hear Res. 2013 Jun;300:1-9. doi: 10.1016/j.heares.2013.02.009. Epub 2013 Mar 22. Erratum in: Hear Res. 2013 Aug;302:83.

14.

Phenotypic variability of CLDN14 mutations causing DFNB29 hearing loss in the Pakistani population.

Bashir ZE, Latief N, Belyantseva IA, Iqbal F, Riazuddin SA, Khan SN, Friedman TB, Riazuddin S, Riazuddin S.

J Hum Genet. 2013 Feb;58(2):102-8. doi: 10.1038/jhg.2012.143. Epub 2012 Dec 13. Erratum in: J Hum Genet. 2013 Sep;58(9):641. Amer Riazuddin, Sheikh [corrected to Riazuddin, S Amer].

15.

Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48.

Riazuddin S, Belyantseva IA, Giese AP, Lee K, Indzhykulian AA, Nandamuri SP, Yousaf R, Sinha GP, Lee S, Terrell D, Hegde RS, Ali RA, Anwar S, Andrade-Elizondo PB, Sirmaci A, Parise LV, Basit S, Wali A, Ayub M, Ansar M, Ahmad W, Khan SN, Akram J, Tekin M, Riazuddin S, Cook T, Buschbeck EK, Frolenkov GI, Leal SM, Friedman TB, Ahmed ZM.

Nat Genet. 2012 Nov;44(11):1265-71. doi: 10.1038/ng.2426. Epub 2012 Sep 30.

16.

Actin in hair cells and hearing loss.

Drummond MC, Belyantseva IA, Friderici KH, Friedman TB.

Hear Res. 2012 Jun;288(1-2):89-99. doi: 10.1016/j.heares.2011.12.003. Epub 2011 Dec 13. Review.

17.

Functional null mutations of MSRB3 encoding methionine sulfoxide reductase are associated with human deafness DFNB74.

Ahmed ZM, Yousaf R, Lee BC, Khan SN, Lee S, Lee K, Husnain T, Rehman AU, Bonneux S, Ansar M, Ahmad W, Leal SM, Gladyshev VN, Belyantseva IA, Van Camp G, Riazuddin S, Friedman TB, Riazuddin S.

Am J Hum Genet. 2011 Jan 7;88(1):19-29. doi: 10.1016/j.ajhg.2010.11.010. Epub 2010 Dec 23.

18.

Actin-bundling protein TRIOBP forms resilient rootlets of hair cell stereocilia essential for hearing.

Kitajiri S, Sakamoto T, Belyantseva IA, Goodyear RJ, Stepanyan R, Fujiwara I, Bird JE, Riazuddin S, Riazuddin S, Ahmed ZM, Hinshaw JE, Sellers J, Bartles JR, Hammer JA 3rd, Richardson GP, Griffith AJ, Frolenkov GI, Friedman TB.

Cell. 2010 May 28;141(5):786-98. doi: 10.1016/j.cell.2010.03.049.

19.

Targeted capture and next-generation sequencing identifies C9orf75, encoding taperin, as the mutated gene in nonsyndromic deafness DFNB79.

Rehman AU, Morell RJ, Belyantseva IA, Khan SY, Boger ET, Shahzad M, Ahmed ZM, Riazuddin S, Khan SN, Riazuddin S, Friedman TB.

Am J Hum Genet. 2010 Mar 12;86(3):378-88. doi: 10.1016/j.ajhg.2010.01.030. Epub 2010 Feb 18.

20.

Mutations in Grxcr1 are the basis for inner ear dysfunction in the pirouette mouse.

Odeh H, Hunker KL, Belyantseva IA, Azaiez H, Avenarius MR, Zheng L, Peters LM, Gagnon LH, Hagiwara N, Skynner MJ, Brilliant MH, Allen ND, Riazuddin S, Johnson KR, Raphael Y, Najmabadi H, Friedman TB, Bartles JR, Smith RJ, Kohrman DC.

Am J Hum Genet. 2010 Feb 12;86(2):148-60. doi: 10.1016/j.ajhg.2010.01.016. Epub 2010 Feb 4.

21.

Twinfilin 2 regulates actin filament lengths in cochlear stereocilia.

Peng AW, Belyantseva IA, Hsu PD, Friedman TB, Heller S.

J Neurosci. 2009 Dec 2;29(48):15083-8. doi: 10.1523/JNEUROSCI.2782-09.2009.

22.

Molecular basis of DFNB73: mutations of BSND can cause nonsyndromic deafness or Bartter syndrome.

Riazuddin S, Anwar S, Fischer M, Ahmed ZM, Khan SY, Janssen AG, Zafar AU, Scholl U, Husnain T, Belyantseva IA, Friedman PL, Riazuddin S, Friedman TB, Fahlke C.

Am J Hum Genet. 2009 Aug;85(2):273-80. doi: 10.1016/j.ajhg.2009.07.003. Epub 2009 Jul 30.

23.

Gamma-actin is required for cytoskeletal maintenance but not development.

Belyantseva IA, Perrin BJ, Sonnemann KJ, Zhu M, Stepanyan R, McGee J, Frolenkov GI, Walsh EJ, Friderici KH, Friedman TB, Ervasti JM.

Proc Natl Acad Sci U S A. 2009 Jun 16;106(24):9703-8. doi: 10.1073/pnas.0900221106. Epub 2009 Jun 3.

24.

Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans.

Ahmed ZM, Masmoudi S, Kalay E, Belyantseva IA, Mosrati MA, Collin RW, Riazuddin S, Hmani-Aifa M, Venselaar H, Kawar MN, Tlili A, van der Zwaag B, Khan SY, Ayadi L, Riazuddin SA, Morell RJ, Griffith AJ, Charfedine I, Caylan R, Oostrik J, Karaguzel A, Ghorbel A, Riazuddin S, Friedman TB, Ayadi H, Kremer H.

Nat Genet. 2008 Nov;40(11):1335-40. doi: 10.1038/ng.245. Epub 2008 Oct 26.

25.

Helios Gene Gun-mediated transfection of the inner ear sensory epithelium.

Belyantseva IA.

Methods Mol Biol. 2009;493:103-23. doi: 10.1007/978-1-59745-523-7_7.

PMID:
18839344
26.

Mutation spectrum of MYO7A and evaluation of a novel nonsyndromic deafness DFNB2 allele with residual function.

Riazuddin S, Nazli S, Ahmed ZM, Yang Y, Zulfiqar F, Shaikh RS, Zafar AU, Khan SN, Sabar F, Javid FT, Wilcox ER, Tsilou E, Boger ET, Sellers JR, Belyantseva IA, Riazuddin S, Friedman TB.

Hum Mutat. 2008 Apr;29(4):502-11. doi: 10.1002/humu.20677.

PMID:
18181211
27.

Deafness and stria vascularis defects in S1P2 receptor-null mice.

Kono M, Belyantseva IA, Skoura A, Frolenkov GI, Starost MF, Dreier JL, Lidington D, Bolz SS, Friedman TB, Hla T, Proia RL.

J Biol Chem. 2007 Apr 6;282(14):10690-6. Epub 2007 Feb 6.

28.

Tricellulin is a tight-junction protein necessary for hearing.

Riazuddin S, Ahmed ZM, Fanning AS, Lagziel A, Kitajiri S, Ramzan K, Khan SN, Chattaraj P, Friedman PL, Anderson JM, Belyantseva IA, Forge A, Riazuddin S, Friedman TB.

Am J Hum Genet. 2006 Dec;79(6):1040-51. Epub 2006 Oct 31.

29.

Signatures from tissue-specific MPSS libraries identify transcripts preferentially expressed in the mouse inner ear.

Peters LM, Belyantseva IA, Lagziel A, Battey JF, Friedman TB, Morell RJ.

Genomics. 2007 Feb;89(2):197-206. Epub 2006 Oct 17.

30.

Auditory mechanotransduction in the absence of functional myosin-XVa.

Stepanyan R, Belyantseva IA, Griffith AJ, Friedman TB, Frolenkov GI.

J Physiol. 2006 Nov 1;576(Pt 3):801-8. Epub 2006 Sep 14.

31.

The tip-link antigen, a protein associated with the transduction complex of sensory hair cells, is protocadherin-15.

Ahmed ZM, Goodyear R, Riazuddin S, Lagziel A, Legan PK, Behra M, Burgess SM, Lilley KS, Wilcox ER, Riazuddin S, Griffith AJ, Frolenkov GI, Belyantseva IA, Richardson GP, Friedman TB.

J Neurosci. 2006 Jun 28;26(26):7022-34.

32.

Mutations of human TMHS cause recessively inherited non-syndromic hearing loss.

Shabbir MI, Ahmed ZM, Khan SY, Riazuddin S, Waryah AM, Khan SN, Camps RD, Ghosh M, Kabra M, Belyantseva IA, Friedman TB, Riazuddin S.

J Med Genet. 2006 Aug;43(8):634-40. Epub 2006 Feb 3.

33.

Spatiotemporal pattern and isoforms of cadherin 23 in wild type and waltzer mice during inner ear hair cell development.

Lagziel A, Ahmed ZM, Schultz JM, Morell RJ, Belyantseva IA, Friedman TB.

Dev Biol. 2005 Apr 15;280(2):295-306.

34.

Myosin-XVa is required for tip localization of whirlin and differential elongation of hair-cell stereocilia.

Belyantseva IA, Boger ET, Naz S, Frolenkov GI, Sellers JR, Ahmed ZM, Griffith AJ, Friedman TB.

Nat Cell Biol. 2005 Feb;7(2):148-56. Epub 2005 Jan 16.

PMID:
15654330
35.

Genetic insights into the morphogenesis of inner ear hair cells.

Frolenkov GI, Belyantseva IA, Friedman TB, Griffith AJ.

Nat Rev Genet. 2004 Jul;5(7):489-98. Review. No abstract available.

PMID:
15211351
36.

Gene expression profile of the mouse organ of Corti at the onset of hearing.

Pompeia C, Hurle B, Belyantseva IA, Noben-Trauth K, Beisel K, Gao J, Buchoff P, Wistow G, Kachar B.

Genomics. 2004 Jun;83(6):1000-11.

PMID:
15177554
37.

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.

38.

Myosin XVa localizes to the tips of inner ear sensory cell stereocilia and is essential for staircase formation of the hair bundle.

Belyantseva IA, Boger ET, Friedman TB.

Proc Natl Acad Sci U S A. 2003 Nov 25;100(24):13958-63. Epub 2003 Nov 10.

39.

Stereocilia: the long and the short of it.

Belyantseva IA, Labay V, Boger ET, Griffith AJ, Friedman TB.

Trends Mol Med. 2003 Nov;9(11):458-61.

PMID:
14604820
40.

PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23.

Ahmed ZM, Riazuddin S, Ahmad J, Bernstein SL, Guo Y, Sabar MF, Sieving P, Riazuddin S, Griffith AJ, Friedman TB, Belyantseva IA, Wilcox ER.

Hum Mol Genet. 2003 Dec 15;12(24):3215-23. Epub 2003 Oct 21.

PMID:
14570705
41.

Expression of prestin, a membrane motor protein, in the mammalian auditory and vestibular periphery.

Adler HJ, Belyantseva IA, Merritt RC Jr, Frolenkov GI, Dougherty GW, Kachar B.

Hear Res. 2003 Oct;184(1-2):27-40.

PMID:
14553901
42.

Recent advances in the understanding of syndromic forms of hearing loss.

Friedman TB, Schultz JM, Ben-Yosef T, Pryor SP, Lagziel A, Fisher RA, Wilcox ER, Riazuddin S, Ahmed ZM, Belyantseva IA, Griffith AJ.

Ear Hear. 2003 Aug;24(4):289-302. Review. No abstract available.

PMID:
12923420
43.

Claudin 14 knockout mice, a model for autosomal recessive deafness DFNB29, are deaf due to cochlear hair cell degeneration.

Ben-Yosef T, Belyantseva IA, Saunders TL, Hughes ED, Kawamoto K, Van Itallie CM, Beyer LA, Halsey K, Gardner DJ, Wilcox ER, Rasmussen J, Anderson JM, Dolan DF, Forge A, Raphael Y, Camper SA, Friedman TB.

Hum Mol Genet. 2003 Aug 15;12(16):2049-61.

PMID:
12913076
44.

Mutations in Mcoln3 associated with deafness and pigmentation defects in varitint-waddler (Va) mice.

Di Palma F, Belyantseva IA, Kim HJ, Vogt TF, Kachar B, Noben-Trauth K.

Proc Natl Acad Sci U S A. 2002 Nov 12;99(23):14994-9. Epub 2002 Oct 25.

45.

Rapid renewal of auditory hair bundles.

Schneider ME, Belyantseva IA, Azevedo RB, Kachar B.

Nature. 2002 Aug 22;418(6900):837-8.

PMID:
12192399
46.

Targeted disruption of mouse Pds provides insight about the inner-ear defects encountered in Pendred syndrome.

Everett LA, Belyantseva IA, Noben-Trauth K, Cantos R, Chen A, Thakkar SI, Hoogstraten-Miller SL, Kachar B, Wu DK, Green ED.

Hum Mol Genet. 2001 Jan 15;10(2):153-61.

PMID:
11152663
47.

Mutations in Cdh23, encoding a new type of cadherin, cause stereocilia disorganization in waltzer, the mouse model for Usher syndrome type 1D.

Di Palma F, Holme RH, Bryda EC, Belyantseva IA, Pellegrino R, Kachar B, Steel KP, Noben-Trauth K.

Nat Genet. 2001 Jan;27(1):103-7.

PMID:
11138008
48.

Two distinct Ca(2+)-dependent signaling pathways regulate the motor output of cochlear outer hair cells.

Frolenkov GI, Mammano F, Belyantseva IA, Coling D, Kachar B.

J Neurosci. 2000 Aug 15;20(16):5940-8.

49.

The motor and tail regions of myosin XV are critical for normal structure and function of auditory and vestibular hair cells.

Anderson DW, Probst FJ, Belyantseva IA, Fridell RA, Beyer L, Martin DM, Wu D, Kachar B, Friedman TB, Raphael Y, Camper SA.

Hum Mol Genet. 2000 Jul 22;9(12):1729-38.

PMID:
10915760
50.

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