I. Belyantseva

发表

Deafness and Stria Vascularis Defects in S1P2 Receptor-null Mice*

R. Proia, T. Friedman, G. Frolenkov, 2007, Journal of Biological Chemistry.

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

K. Beisel, B. Kachar, G. Wistow, 2004, Genomics.

Harnessing molecular motors for nanoscale pulldown in live cells

Donna M. Martin, T. Friedman, Alexandra K. Boukhvalova, 2016, bioRxiv.

Tricellulin deficiency affects tight junction architecture and cochlear hair cells.

G. P. Sinha, A. Forge, S. Riazuddin, 2013, The Journal of clinical investigation.

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

E. Green, B. Kachar, R. Cantos, 2001, Human molecular genetics.

Localization and Functional Studies of Pendrin in the Mouse Inner Ear Provide Insight About the Etiology of Deafness in Pendred Syndrome

E. Green, B. Kachar, Tao Wu, 2003, Journal of the Association for Research in Otolaryngology.

Recent Advances in the Understanding of Syndromic Forms of Hearing Loss

S. Riazuddin, Z. Ahmed, A. Griffith, 2003, Ear and hearing.

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

S. Leal, V. Gladyshev, S. Riazuddin, 2011, American Journal of Human Genetics.

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

K. Kindt, Uzma Shaukat, S. Riazuddin, 2018, Human molecular genetics.

CRISPR/Cas9-Induced Mutagenesis Corroborates the Role of Transportin-SR2 in HIV-1 Nuclear Import

K. Steel, A. Forge, N. Ingham, 2014, Stem Cell Research & Therapy.

Tricellulin is a tight-junction protein necessary for hearing.

A. Forge, S. Riazuddin, Z. Ahmed, 2006, American journal of human genetics.

Action of morphine on neuronal input systems of the spinal cord involved in nociceptive pressor reflex formation

E. Lukoshkova, I. Belyantseva, 1991, Bulletin of Experimental Biology and Medicine.

Receptor-null Mice 2 S1P Deafness and Stria Vascularis Defects in Mechanisms of Signal Transduction:

R. Proia, T. Friedman, G. Frolenkov, 2014 .

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

S. Riazuddin, Shaheen N. Khan, S. Riazuddin, 2012, Journal of Human Genetics.

Genetic insights into the morphogenesis of inner ear hair cells

A. Griffith, T. Friedman, G. Frolenkov, 2004, Nature Reviews Genetics.

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

T. Friedman, R. Morell, Sherri M. Jones, 2013, Hearing Research.

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

Y. Raphael, D. W. Anderson, L. Beyer, 2000, Human molecular genetics.

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

G. Frolenkov, B. Kachar, G. Dougherty, 2003, Hearing Research.

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

A. Griffith, T. Friedman, Sarath Vijayakumar, 2017, Molecular therapy : the journal of the American Society of Gene Therapy.

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

S. Roy, T. Friedman, W. Chien, 2016, Molecular therapy : the journal of the American Society of Gene Therapy.

Human deafness-associated variants alter the dynamics of key molecules in hair cell stereocilia F-actin cores

H. Shroff, T. Friedman, B. Kim, 2021, Human Genetics.

Myosins and Hearing.

T. Friedman, G. Frolenkov, I. Belyantseva, 2020, Advances in experimental medicine and biology.

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

P. Sieving, S. Riazuddin, Z. Ahmed, 2003, Human molecular genetics.

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

B. van der Zwaag, H. Kremer, S. Riazuddin, 2008, Nature Genetics.

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

J. Sellers, S. Riazuddin, Z. Ahmed, 2008, Human mutation.

The Tip-Link Antigen, a Protein Associated with the Transduction Complex of Sensory Hair Cells, Is Protocadherin-15

R. Goodyear, G. Richardson, S. Riazuddin, 2006, The Journal of Neuroscience.

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

S. Riazuddin, Z. Ahmed, Shaheen N. Khan, 2006, Journal of Medical Genetics.

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

Z. Ahmed, T. Friedman, Ayala Lagziel, 2005, Developmental biology.

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

K. Steel, R. Holme, B. Kachar, 2001, Nature Genetics.

Expression and Localization of Prestin and the Sugar Transporter GLUT-5 during Development of Electromotility in Cochlear Outer Hair Cells

G. Frolenkov, B. Kachar, R. Curi, 2000, The Journal of Neuroscience.

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

D. Nickerson, S. Leal, Joshua D. Smith, 2016, American journal of human genetics.

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

S. Riazuddin, Shaheen N. Khan, S. Riazuddin, 2012, Journal of Human Genetics.

Mutations in CIB2, a calcium and integrin binding protein, cause Usher syndrome type 1J and nonsyndromic deafness DFNB48

G. P. Sinha, S. Leal, M. Tekin, 2012, Nature Genetics.

Actin in hair cells and hearing loss

T. Friedman, I. Belyantseva, K. Friderici, 2012, Hearing Research.

Stereocilia: the long and the short of it.

A. Griffith, T. Friedman, V. Labay, 2003, Trends in molecular medicine.

PCDH 15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH 1 F and DFNB 23

P. Sieving, S. Riazuddin, Z. Ahmed, 2003 .

Characterization of the human and mouse unconventional myosin XV genes responsible for hereditary deafness DFNB3 and shaker 2.

W. Miller, D. W. Anderson, J. Touchman, 1999, Genomics.

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

Mohsin Shahzad, S. Riazuddin, Z. Ahmed, 2010, American journal of human genetics.

Actin at stereocilia tips is regulated by mechanotransduction and ADF/cofilin

T. Friedman, Jinan Li, N. Berbari, 2020, Current Biology.

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

Y. Chudasama, C. Pierpaoli, R. Petralia, 2019, Human molecular genetics.

Mouse Models of Human Pathogenic Variants of TBC1D24 Associated with Non-Syndromic Deafness DFNB86 and DFNA65 and Syndromes Involving Deafness

A. Ishiyama, I. Lopez, S. Riazuddin, 2020, Genes.

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

Yehoash Raphael, Andrew Forge, Sally A Camper, 2003, Human molecular genetics.

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

James F Battey, T. Friedman, J. Battey, 2007, Genomics.

Stability and plasticity of primary afferent projections following nerve regeneration and central degeneration

G. Lewin, I. Belyantseva, 1999, The European journal of neuroscience.

Mutations in the Gene Encoding Tight Junction Claudin-14 Cause Autosomal Recessive Deafness DFNB29

S. Riazuddin, S. Riazuddin, A. Griffith, 2001, Cell.

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

Y. Raphael, M. Brilliant, S. Riazuddin, 2010, American journal of human genetics.

Twinfilin 2 Regulates Actin Filament Lengths in Cochlear Stereocilia

P. Hsu, S. Heller, T. Friedman, 2009, The Journal of Neuroscience.

γ-Actin is required for cytoskeletal maintenance but not development

J. Ervasti, J. McGee, E. Walsh, 2009, Proceedings of the National Academy of Sciences.

Structural cell biology: Rapid renewal of auditory hair bundles

Mark E. Schneider, B. Kachar, I. Belyantseva, 2002, Nature.

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

I. Belyantseva, 2016, Methods in molecular biology.

Actin-Bundling Protein TRIOBP Forms Resilient Rootlets of Hair Cell Stereocilia Essential for Hearing

Ikuko Fujiwara, James Sellers, John A. Hammer, 2010, Cell.

Semi-automated single-molecule microscopy screening of fast-dissociating specific antibodies directly from hybridoma cultures

Jiji Chen, H. Shroff, T. Friedman, 2021, Cell reports.

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

M. Mustapha, T. Friedman, G. Frolenkov, 2015, eLife.

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

J. Sellers, Z. Ahmed, A. Griffith, 2005, Nature Cell Biology.

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

T. Friedman, I. Belyantseva, E. Boger, 2003, Proceedings of the National Academy of Sciences of the United States of America.

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

U. Scholl, S. Riazuddin, Z. Ahmed, 2009, American journal of human genetics.

Variants of human CLDN9 cause mild to profound hearing loss

T. Friedman, C. Philippe, C. Fenollar-Ferrer, 2021, Human mutation.

Molecular Remodeling of Tip Links Underlies Mechanosensory Regeneration in Auditory Hair Cells

Z. Ahmed, T. Friedman, G. Frolenkov, 2013, PLoS biology.

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

I. Belyantseva, 2009, Methods in molecular biology.

Two Distinct Ca2+-Dependent Signaling Pathways Regulate the Motor Output of Cochlear Outer Hair Cells

F. Mammano, G. Frolenkov, B. Kachar, 2000, The Journal of Neuroscience.

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

F. Mammano, G. Frolenkov, B. Kachar, 2000, The Journal of neuroscience : the official journal of the Society for Neuroscience.

ATP-Induced Ca2+ Release in Cochlear Outer Hair Cells: Localization of an Inositol Triphosphate-Gated Ca2+ Store to the Base of the Sensory Hair Bundle

F. Mammano, G. Frolenkov, B. Kachar, 1999, The Journal of Neuroscience.

Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations

Robert W. Taylor, I. Hochberg, W. Newman, 2021, American journal of human genetics.

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

T. Vogt, B. Kachar, F. Di Palma, 2002, Proceedings of the National Academy of Sciences of the United States of America.

Auditory mechanotransduction in the absence of functional myosin‐XVa

A. Griffith, T. Friedman, G. Frolenkov, 2006, The Journal of physiology.

A homozygous variant in mitochondrial RNase P subunit PRORP is associated with Perrault syndrome characterized by hearing loss and primary ovarian insufficiency

Robert W. Taylor, I. Hochberg, W. Newman, 2017, bioRxiv.

TRIOBP-5 sculpts stereocilia rootlets and stiffens supporting cells enabling hearing.

T. Abe, H. Kiyonari, R. Petralia, 2019, JCI insight.

Water Permeability of Cochlear Outer Hair Cells: Characterization and Relationship to Electromotility

F Mammano, F. Mammano, J. Wade, 2000, The Journal of Neuroscience.

Unbalanced bidirectional radial stiffness gradients within the organ of Corti promoted by TRIOBP

T. Friedman, G. Frolenkov, H. Babahosseini, 2022, Proceedings of the National Academy of Sciences of the United States of America.

ANKRD24 organizes TRIOBP to reinforce stereocilia insertion points

A. Nuttall, Dongseok Choi, T. Friedman, 2022, The Journal of cell biology.

TRIOBP promotes bidirectional radial stiffness gradients within the organ of Corti

T. Friedman, G. Frolenkov, H. Babahosseini, 2021, bioRxiv.

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

I. Belyantseva, 2009, Methods in molecular biology.

Mutations in CIB2, a calcium and integrin binding protein, cause Usher syndrome type 1J and nonsyndromic deafness DFNB48

G. P. Sinha, S. Leal, M. Tekin, 2012, Nature Genetics.

Cochlear outer hair cell electromotility can provide force for both low and high intensity distortion product otoacoustic emissions

G. Frolenkov, B. Kachar, I. Belyantseva, 1998, Hearing Research.

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

James B. Dewey, A. Xia, B. Applegate, 2018, Cell reports.

Pathophysiology of human hearing loss associated with variants in myosins

I. Belyantseva, Mrudhula Sajeevadathan, Takushi Miyoshi, 2024, Frontiers in physiology.