Molecular Genetics of Hearing Loss

The Gap Junction Communication Channel

1996 • 1,896 citations

Experiments in Hearing

1963 • 1,763 citations

Coassembly of KVLQT1 and minK (IsK) proteins to form cardiac IKS potassium channel

1996 • 1,741 citations

A novel arachidonic acid-selective cytosolic PLA2 contains a Ca2+-dependent translocation domain with homology to PKC and GAP

1991 • 1,709 citations

KvLQT1 and IsK (minK) proteins associate to form the IKS cardiac potassium current

1996 • 1,585 citations

Connexin 26 mutations in hereditary non-syndromic sensorineural deafness

1997 • 1,435 citations

The DNA sequence of human chromosome 21

2000 • 1,406 citations

Connections with Connexins: the Molecular Basis of Direct Intercellular Signaling

1996 • 1,301 citations

Mitochondrial ribosomal RNA mutation associated with both antibiotic–induced and non–syndromic deafness

1993 • 1,173 citations

Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS)

1997 • 1,123 citations

Paracellin-1, a Renal Tight Junction Protein Required for Paracellular Mg ²⁺ Resorption

1999 • 1,107 citations

Defective myosin VIIA gene responsible for Usher syndrome type IB

1995 • 1,051 citations

Cooperation between mDia1 and ROCK in Rho-induced actin reorganization

1999 • 884 citations

Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy

1998 • 882 citations

A novel mutation in the potassium channel gene KVLQT1 causes the Jervell and Lange-Nielsen cardioauditory syndrome

1997 • 878 citations

KCNQ4, a Novel Potassium Channel Expressed in Sensory Outer Hair Cells, Is Mutated in Dominant Deafness

1999 • 853 citations

C2-domains, Structure and Function of a Universal Ca2+-binding Domain

1998 • 835 citations

Phospholipid binding by a synaptic vesicle protein homologous to the regulatory region of protein kinase C

1990 • 829 citations

Mutations in the K+ channel signature sequence

1994 • 828 citations

Specific permeability and selective formation of gap junction channels in connexin-transfected HeLa cells.

1995 • 821 citations

p140mDia, a mammalian homolog of Drosophila diaphanous, is a target protein for Rho small GTPase and is a ligand for profilin

1997 • 819 citations

Neuronal KCNQ potassium channels:physislogy and role in disease

2000 • 809 citations

A Millennial Myosin Census

2001 • 745 citations

A type VII myosin encoded by the mouse deafness gene shaker-1

1995 • 674 citations

Rim is a putative Rab3 effector in regulating synaptic-vesicle fusion

1997 • 673 citations

Myosin VI is an actin-based motor that moves backwards

1999 • 664 citations

A human homologue of the Drosophila eyes absent gene underlies Branchio-Oto-Renal (BOR) syndrome and identifies a novel gene family

1997 • 660 citations

A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B

1998 • 660 citations

Bni1p, a Yeast Formin Linking Cdc42p and the Actin Cytoskeleton During Polarized Morphogenesis

1997 • 654 citations

Unconventional Myosins in Cell Movement, Membrane Traffic, and Signal Transduction

1998 • 649 citations

Connexin-26 mutations in sporadic and inherited sensorineural deafness

1998 • 645 citations

Prelingual Deafness: High Prevalence of a 30delG Mutation in the Connexin 26 Gene

1997 • 635 citations

Connexin26 mutations associated with the most common form of non- syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans

1997 • 613 citations

Gap junctions in the rat cochlea: immunohistochemical and ultrastructural analysis

1995 • 590 citations

Modifier genes in mice and humans

2001 • 569 citations

The Pendred syndrome gene encodes a chloride-iodide transport protein

1999 • 565 citations

A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness

1999 • 549 citations

Mutations in the Connexin 26 Gene (GJB2) among Ashkenazi Jews with Nonsyndromic Recessive Deafness

1998 • 543 citations

Familial Progressive Sensorineural Deafness Is Mainly Due to the mtDNA A1555G Mutation and Is Enhanced by Treatment with Aminoglycosides

1998 • 542 citations

Usher Syndrome 1D and Nonsyndromic Autosomal Recessive Deafness DFNB12 Are Caused by Allelic Mutations of the Novel Cadherin-Like Gene CDH23

2001 • 534 citations

Three-Dimensional Structure of a Recombinant Gap Junction Membrane Channel

1999 • 532 citations

Unconventional Myosins in Inner-Ear Sensory Epithelia

1997 • 531 citations

The FERM domain: a unique module involved in the linkage of cytoplasmic proteins to the membrane

1998 • 530 citations

Pendrin, encoded by the Pendred syndrome gene, resides in the apical region of renal intercalated cells and mediates bicarbonate secretion

2001 • 526 citations

PDZ domains in synapse assembly and signalling

2000 • 525 citations

Role of transcription factors a Brn-3.1 and Brn-3.2 in auditory and visual system development

1996 • 513 citations

The mouse Snell's waltzer deafness gene encodes an unconventional myosin required for structural integrity of inner ear hair cells

1995 • 507 citations

Novel Mutations in the Connexin 26 Gene (GJB2) That Cause Autosomal Recessive (DFNB1) Hearing Loss

1998 • 506 citations

Hereditary Hearing Loss and its Syndromes

1995 • 502 citations

Tip-link integrity and mechanical transduction in vertebrate hair cells

1991 • 495 citations

A constitutively open potassium channel formed by KCNQ1 and KCNE3

2000 • 481 citations

Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D

2001 • 475 citations

PDZ domains: fundamental building blocks in the organization of protein complexes at the plasma membrane

1999 • 469 citations

A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C

2000 • 463 citations

Mutations in the myosin VIIA gene cause non-syndromic recessive deafness

1997 • 455 citations

Clinical features of the prevalent form of childhood deafness, DFNB1, due to a connexin-26 gene defect: implications for genetic counselling

1999 • 440 citations

Molecular Physiology and Pathophysiology of Tight Junctions I. Tight junction structure and function: lessons from mutant animals and proteins

2000 • 439 citations

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

2001 • 436 citations

Type II Transmembrane Serine Proteases

2009 • 432 citations

Association of Unconventional Myosin MYO15 Mutations with Human Nonsyndromic Deafness DFNB3

1998 • 429 citations

Expression in cochlea and retina of myosin VIIa, the gene product defective in Usher syndrome type 1B.

1995 • 425 citations

Association Between X-Linked Mixed Deafness and Mutations in the POU Domain Gene POU3F4

1995 • 421 citations

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

2001 • 420 citations

Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes

2000 • 420 citations

Mutations in the gene encoding gap junction protein β-3 associated with autosomal dominant hearing impairment

1998 • 415 citations

The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene

1997 • 415 citations

Correction of Deafness in shaker-2 Mice by an Unconventional Myosin in a BAC Transgene

1998 • 410 citations

Nonsyndromic Deafness DFNA1 Associated with Mutation of a Human Homolog of the Drosophila Gene diaphanous

1997 • 409 citations

diaphanous is required for cytokinesis in Drosophila and shares domains of similarity with the products of the limb deformity gene

1994 • 408 citations

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

2001 • 407 citations

Mechanical relaxation of the hair bundle mediates adaptation in mechanoelectrical transduction by the bullfrog's saccular hair cell.

1987 • 407 citations

Mammalian Homologues of Caenorhabditis elegans unc-13 Gene Define Novel Family of C2-domain Proteins

1995 • 404 citations

Mutations of the Protocadherin Gene PCDH15 Cause Usher Syndrome Type 1F

2001 • 401 citations

GENETIC DISEASES AND GENE KNOCKOUTS REVEAL DIVERSE CONNEXIN FUNCTIONS

1999 • 399 citations

Diverse functions of vertebrate gap junctions

1998 • 398 citations

Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus

1995 • 398 citations

Deafness and imbalance associated with inactivation of the secretory Na-K-2Cl co-transporter

1999 • 396 citations

KCNQ4, a K ⁺ channel mutated in a form of dominant deafness, is expressed in the inner ear and the central auditory pathway

2000 • 394 citations

Pendrin, the Protein Encoded by the Pendred Syndrome Gene (PDS), Is an Apical Porter of Iodide in the Thyroid and Is Regulated by Thyroglobulin in FRTL-5 Cells

2000 • 389 citations

Prevalent connexin 26 gene (GJB2) mutations in Japanese

2000 • 389 citations

Mice Lacking the Basolateral Na-K-2Cl Cotransporter Have Impaired Epithelial Chloride Secretion and Are Profoundly Deaf

1999 • 386 citations

Rabphilin-3A, a Putative Target Protein for smg p25A/rab3A p25 Small GTP-Binding Protein Related to Synaptotagmin

1993 • 386 citations

High carrier frequency of the 35delG deafness mutation in European populations

2000 • 382 citations

Carrier Rates in the Midwestern United States for <EMPH TYPE="ITAL">GJB2</EMPH> Mutations Causing Inherited Deafness

1999 • 368 citations

Usher syndrome: Definition and estimate of prevalence from two high-risk populations

1983 • 367 citations

Nonsyndromic hearing impairment is associated with a mutation in DFNA5

1998 • 358 citations

Ligand-Gated Ion Channel Interactions with Cytoskeletal and Signaling Proteins

2000 • 352 citations

Cooperation of Six and Eya in Activation of Their Target Genes through Nuclear Translocation of Eya

1999 • 346 citations

Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis

1998 • 343 citations

Type II Transmembrane Serine Proteases

2001 • 341 citations

Mutation in Transcription Factor POU4F3 Associated with Inherited Progressive Hearing Loss in Humans

1998 • 338 citations

Limiting dynamics of high-frequency electromechanical transduction of outer hair cells

1999 • 335 citations

Mutations in a novel cochlear gene cause DFNA9, a human nonsyndromic deafness with vestibular dysfunction

1998 • 333 citations

Regulation of Connexin-43 Gap Junctional Intercellular Communication by Mitogen-activated Protein Kinase

1998 • 330 citations

Mutations in the human α-tectorin gene cause autosomal dominant non-syndromic hearing impairment

1998 • 325 citations

The development of the vertebrate inner ear

1998 • 325 citations

A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families

1999 • 320 citations

Essential role of POU–domain factor Brn-3c in auditory and vestibular hair cell development

1997 • 320 citations

Ionic currents of outer hair cells isolated from the guinea‐pig cochlea.

1992 • 319 citations

A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene

2000 • 319 citations

Shaker-1 mutations reveal roles for myosin VIIA in both development and function of cochlear hair cells

1998 • 314 citations

Modulation of RNA function by aminoglycoside antibiotics

2000 • 312 citations

Isoform Composition of Connexin Channels Determines Selectivity among Second Messengers and Uncharged Molecules

1998 • 307 citations

Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations

1999 • 304 citations

Selective transfer of endogenous metabolites through gap junctions composed of different connexins

1999 • 304 citations

The mouse Ames waltzer hearing-loss mutant is caused by mutation of Pcdh15, a novel protocadherin gene

2001 • 303 citations

Mouse egg extracellular coat is a matrix of interconnected filaments possessing a structural repeat

1985 • 300 citations

Expression pattern of the mouse ortholog of the Pendred’s syndrome gene ( Pds ) suggests a key role for pendrin in the inner ear

1999 • 300 citations

Balance and Hearing Deficits in Mice with a Null Mutation in the Gene Encoding Plasma Membrane Ca2+-ATPase Isoform 2

1998 • 299 citations

The fine structure of spiral ligament cells relates to ion return to the stria and varies with place-frequency

1996 • 298 citations

Genetic Analysis of Vertebrate Sensory Hair Cell Mechanosensation: the Zebrafish Circler Mutants

1998 • 297 citations

Pendrin: an apical Cl⁻/OH⁻/HCO₃⁻exchanger in the kidney cortex

2001 • 292 citations

Pendred syndrome, DFNB4, andPDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations

2001 • 288 citations

A Targeted Deletion in α-Tectorin Reveals that the Tectorial Membrane Is Required for the Gain and Timing of Cochlear Feedback

2000 • 288 citations

Bni1p implicated in cytoskeletal control is a putative target of Rho1p small GTP binding protein in Saccharomyces cerevisiae.

1996 • 284 citations

A non–syndromic form of neurosensory, recessive deafness maps to the pericentromeric region of chromosome 13q

1994 • 281 citations

Transplacental Uptake of Glucose Is Decreased in Embryonic Lethal Connexin26-deficient Mice

1998 • 280 citations

Mutations in GJB6 cause hidrotic ectodermal dysplasia

2000 • 278 citations

Functional defects of Cx26 resulting from a heterozygous missense mutation in a family with dominant deaf-mutism and palmoplantar keratoderma

1998 • 277 citations

Expression of the gap-junction connexins 26 and 30 in the rat cochlea

1998 • 276 citations

Genes responsible for human hereditary deafness: symphony of a thousand

1996 • 276 citations

Mutations in a plasma membrane Ca2+-ATPase gene cause deafness in deafwaddler mice

1998 • 274 citations

A novel mitochondrial point mutation in a maternal pedigree with sensorineural deafness

1994 • 271 citations

The Deaf Jerker Mouse Has a Mutation in the Gene Encoding the Espin Actin-Bundling Proteins of Hair Cell Stereocilia and Lacks Espins

2000 • 267 citations

U<scp>SHER</scp>S<scp>YNDROME</scp>: From Genetics to Pathogenesis

2001 • 267 citations

Role of Myosin VI in the Differentiation of Cochlear Hair Cells

1999 • 261 citations

Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13)

1999 • 259 citations

A novel X–linked gene, DDP, shows mutations in families with deafness (DFN–1), dystonia, mental deficiency and blindness

1996 • 259 citations

Selectivity of Connexin-Specific Gap Junctions Does Not Correlate With Channel Conductance

1995 • 258 citations

Calcium-triggered exocytosis and endocytosis in an isolated presynaptic cell: Capacitance measurements in saccular hair cells

1994 • 255 citations

Radiological malformations of the ear in pendred syndrome

1998 • 254 citations

Rabphilin-3A, a putative target protein for smg p25A/rab3A p25 small GTP-binding protein related to synaptotagmin.

1993 • 253 citations

POU-domain proteins: structure and function of developmental regulators

1993 • 251 citations

Association of congenital deafness with goitre (Pendred's syndrome): A study of 207 families

1964 • 250 citations

Missense Mutation in the USH2A Gene: Association with Recessive Retinitis Pigmentosa without Hearing Loss

2000 • 250 citations

Mutation of MYH9, encoding non-muscle myosin heavy chain A, in May-Hegglin anomaly

2000 • 249 citations

Requirement for Brn-3c in maturation and survival, but not in fate determination of inner ear hair cells

1998 • 244 citations

Connexin43 and connexin45 form gap junctions with different molecular permeabilities in osteoblastic cells.

1994 • 240 citations

KCNE2 confers background current characteristics to the cardiac KCNQ1 potassium channel

2000 • 239 citations

Vezatin, a novel transmembrane protein, bridges myosin VIIA to the cadherin-catenins complex

2000 • 237 citations

The Mouse Tectorins

1997 • 236 citations

Effect of absence of cochlear outer hair cells on behavioural auditory threshold

1975 • 232 citations

Molecular Genetics of Human Retinal Disease

1999 • 232 citations

MYO6, the Human Homologue of the Gene Responsible for Deafness in Snell’s Waltzer Mice, Is Mutated in Autosomal Dominant Nonsyndromic Hearing Loss

2001 • 231 citations

Insertion of β-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness

2001 • 226 citations

Mutations in the transcriptional activator EYA4 cause late-onset deafness at the DFNA10 locus

2001 • 226 citations

A gene for congenital, recessive deafness DFNB3 maps to the pericentromeric region of chromosome 17

1995 • 222 citations

Human Nonsyndromic Hereditary Deafness DFNA17 Is Due to a Mutation in Nonmuscle Myosin MYH9

2000 • 222 citations

Mitochondrial deafness mutations reviewed

1999 • 222 citations

Selective permeability of different connexin channels to the second messenger inositol 1,4,5-trisphosphate

2000 • 219 citations

High frequency hearing loss correlated with mutations in the GJB2 gene

2000 • 217 citations

Mariner is defective in myosin VIIA: a zebrafish model for human hereditary deafness

2000 • 210 citations

Maternally inherited hearing loss, ataxia and myoclonus associated with a novel point mutation in mitochondrial tRNA ^Ser(UCN) gene

1995 • 209 citations

Novel mutations in the connexin 26 gene (GJB2) responsible for childhood deafness in the Japanese population

2000 • 209 citations

Altered Cochlear Fibrocytes in a Mouse Model of DFN3 Nonsyndromic Deafness

1999 • 209 citations

Developmental expression of the potassium current I_K,n contributes to maturation of mouse outer hair cells

1999 • 205 citations

Connexin26 Mutations Associated With Nonsyndromic Hearing Loss

2000 • 203 citations

Clinical Studies of Families With Hearing Loss Attributable to Mutations in the Connexin 26 Gene (GJB2/DFNB1)

1999 • 202 citations

Molecular genetics of hearing impairment due to mutations in gap junction genes encoding beta connexins

2000 • 201 citations

A biochemical basis for the inherited susceptibility to aminoglycoside ototoxicity

2000 • 200 citations

Synaptic targeting of rabphilin-3A, a synaptic vesicle Ca2+/phospholipid-binding protein, depends on rab3A/3C

1994 • 197 citations

Type A Modules: Interacting Domains Found in Several Non-Fibrillar Collagens and in Other Extracellular Matrix Proteins

1993 • 196 citations

Prevalence of mitochondrial gene mutations among hearing impaired patients

2000 • 196 citations

A common founder for the 35delG GJB2 gene mutation in connexin 26 hearing impairment

2001 • 194 citations

The gene for an inherited form of deafness maps to chromosome 5q31.

1992 • 189 citations

Phosphorylation of connexin 32, a hepatocyte gap‐junction protein, by cAMP‐dependent protein kinase, protein kinase C and Ca²⁺/calmodulin‐dependent protein kinase II

1990 • 188 citations

An alpha-tectorin gene defect causes a newly identified autosomal recessive form of sensorineural pre-lingual non-syndromic deafness, DFNB21

1999 • 186 citations

OTOF Encodes Multiple Long and Short Isoforms: Genetic Evidence That the Long Ones Underlie Recessive Deafness DFNB9

2000 • 186 citations

Linkage of usher syndrome type I gene (USH1B) to the long arm of chromosome 11

1992 • 185 citations

Assignment of an Usher syndrome type III (USH3) gene to chromosome 3q

1995 • 184 citations

A nematode gene required for sperm vesicle fusion

1997 • 182 citations

Mutations in connexin31 underlie recessive as well as dominant non-syndromic hearing loss

2000 • 182 citations

Molecular Cloning and Functional Expression of Mouse Connexin-30,a Gap Junction Gene Highly Expressed in Adult Brain and Skin

1996 • 181 citations

Human pendrin expressed in Xenopus laevis oocytes mediates chloride/formate exchange

2000 • 181 citations

Gap junction channels in the cardiovascular system: pharmacological and physiological modulation

1998 • 177 citations

Targeted Mutagenesis of the POU-Domain GeneBrn4/Pou3f4Causes Developmental Defects in the Inner Ear

1999 • 176 citations

Myoferlin, a candidate gene and potential modifier of muscular dystrophy

2000 • 175 citations

A quantitative analysis of connexin-specific permeability differences of gap junctions expressed in HeLa transfectants and Xenopus oocytes

1998 • 174 citations

Cell fate specification in the inner ear

1996 • 173 citations

Characterization of the Human and Mouse Unconventional Myosin XV Genes Responsible for Hereditary Deafness DFNB3 and Shaker 2

1999 • 172 citations

EYA4, a novel vertebrate gene related to Drosophila eyes absent

1999 • 170 citations

Mutations in a new gene encoding a protein of the hair bundle cause non-syndromic deafness at the DFNB16 locus

2001 • 170 citations

Human myosin VIIA responsible for the Usher 1B syndrome: a predicted membrane-associated motor protein expressed in developing sensory epithelia.

1996 • 170 citations

Two Different Connexin 26 Mutations in an Inbred Kindred Segregating Non-Syndromic Recessive Deafness: Implications for Genetic Studies in Isolated Populations

1997 • 170 citations

Mutations in the KCNQ4 gene are responsible for autosomal dominant deafness in four DFNA2 families

1999 • 169 citations

DOC2 Proteins in Rat Brain: Complementary Distribution and Proposed Function as Vesicular Adapter Proteins in Early Stages of Secretion

1997 • 168 citations

Maternally inherited hearing loss in a large kindred with a novel T7511C mutation in the mitochondrial DNA tRNA ^Ser(UCN) gene

1999 • 167 citations

Mitochondrial ribosomal RNA gene mutation in a patient with sporadic aminoglycoside ototoxicity

1993 • 163 citations

Mutation of the Na-K-Cl Co-Transporter Gene Slc12a2 Results in Deafness in Mice

1999 • 163 citations

Pendred syndrome maps to chromosome 7q21-34 and is caused by an intrinsic defect in thyroid iodine organification

1996 • 161 citations

Functional differences of the PDS gene product are associated with phenotypic variation in patients with Pendred syndrome and non-syndromic hearing loss (DFNB4)

2000 • 161 citations

A nuclear-mitochondrial DNA interaction affecting hearing impairment in mice

2001 • 160 citations

Identification of a proline residue as a transduction element involved in voltage gating of gap junctions

1993 • 160 citations

Mechanism Generating Endocochlear Potential: Role Played by Intermediate Cells in Stria Vascularis

2000 • 159 citations

Identification of a hot spot for microdeletions in patients with X- linked deafness type 3 (DFN3) 900 kb proximal to the DFN3 gene POU3F4

1996 • 155 citations

The prevalence and expression of inherited connexin 26 mutations associated with nonsyndromic hearing loss in the Israeli population

2000 • 154 citations

Gating-Spring Models of Mechanoelectrical Transduction by Hair Cells of the Internal Ear

1995 • 153 citations

Human Usher 1B/mouse shaker-1: the retinal phenotype discrepancy explained by the presence/absence of myosin VIIA in the photoreceptor cells

1996 • 153 citations

Connexin Mutations in Skin Disease and Hearing Loss

2001 • 152 citations

Pendred syndrome (goitre and sensorineural hearing loss) maps to chromosome 7 in the region containing the nonsyndromic deafness gene DFNB4

1996 • 148 citations

Identification of a 120 kd hair-bundle myosin located near stereociliary tips

1993 • 147 citations

Brain 4: a novel mammalian POU domain transcription factor exhibiting restricted brain-specific expression.

1992 • 145 citations

Inherited susceptibility to aminoglycoside ototoxicity: Genetic heterogeneity and clinical implications

1999 • 145 citations

Cx26 deafness: mutation analysis and clinical variability.

1999 • 145 citations

Dominant modifier DFNM1 suppresses recessive deafness DFNB26

2000 • 144 citations

Pattern of connexin 26 (GJB2) mutations causing sensorineural hearing impairment in Ghana

2001 • 143 citations

Cochlear implant histopathology.

1991 • 143 citations

Specific Binding of Aminoglycosides to a Human rRNA Construct Based on a DNA Polymorphism Which Causes Aminoglycoside-Induced Deafness

1997 • 142 citations

High Prevalence of Symptoms of Meniere's Disease in three Families With a Mutation in the COCH Gene

1999 • 142 citations

Myosin VIIA is required for aminoglycoside accumulation in cochlear hair cells.

1997 • 142 citations

Switch in gap junction protein expression is associated with selective changes in junctional permeability during keratinocyte differentiation.

1994 • 141 citations

Myosin VIIA Is Required for Aminoglycoside Accumulation in Cochlear Hair Cells

1997 • 141 citations

Mitochondrial A7445G mutation in two pedigrees with palmoplantar keratoderma and deafness

1998 • 140 citations

Mapping and Characterization of a Novel Cochlear Gene in Human and in Mouse: A Positional Candidate Gene for a Deafness Disorder, DFNA9

1997 • 140 citations

Targeted disruption of Otog results in deafness and severe imbalance

2000 • 139 citations

Molecular Cloning and Domain Structure of Human Myosin-VIIa, the Gene Product Defective in Usher Syndrome 1B

1996 • 138 citations

Autosomal Recessive Non-Syndromic Deafness Locus (DFNB8) Maps on Chromosome 21Q22 in a Large Consanguineous Kindred from Pakistan

1996 • 138 citations

A connexin 26 mutation causes a syndrome of sensorineural hearing loss and palmoplantar hyperkeratosis (MIM 148350)

2000 • 138 citations

Linkage of Autosomal Dominant Hearing Loss to the Short Arm of Chromosome 1 in Two Families

1994 • 137 citations

Structure and evolution of four POU domain genes expressed in mouse brain.

1992 • 135 citations

A Pro51Ser mutation in the COCH gene is associated with late onset autosomal dominant progressive sensorineural hearing loss with vestibular defects

1999 • 135 citations

Prevalence, age of onset, and natural history of thyroid disease in Pendred syndrome.

1999 • 134 citations

A human gene responsible for neurosensory, non-syndromic recessive deafness is a candidate homologue of the mouse sh-1 gene

1994 • 133 citations

The Stapes Gusher

1973 • 133 citations

Polypeptide composition of the mammalian tectorial membrane

1987 • 130 citations

Properties of Connexin26 Gap Junctional Proteins Derived from Mutations Associated With Non-Syndromal Heriditary Deafness

1999 • 129 citations

Fine structure of the intracochlear potential field. I. The silent current

1990 • 129 citations

Connexin31-Deficiency in Mice Causes Transient Placental Dysmorphogenesis but Does Not Impair Hearing and Skin Differentiation

2001 • 128 citations

Connexin 26 Gene Mutations in Congenitally Deaf Children

2001 • 126 citations

Localization of a gene for otosclerosis to chromosome 15q25-q26

1998 • 123 citations

A novel mutation in the mitochondrial tRNASer(UCN) gene in a family with non-syndromic sensorineural hearing impairment

2000 • 122 citations

A gene for non-syndromic autosomal dominant progressive postlingual sensorineural hearing loss maps to chromosome 14q12-13

1996 • 122 citations

A strategy for fine-structure functional analysis of a 6- to 11-centimorgan region of mouse chromosome 7 by high-efficiency mutagenesis.

1990 • 121 citations

Effects of shaker-1 mutations on myosin-VIIa protein and mRNA expression

1997 • 121 citations

Expression of Pendrin and the Pendred Syndrome (PDS) Gene in Human Thyroid Tissues*

2000 • 120 citations

Molecular analysis of voltage dependence of heterotypic gap junctions formed by connexins 26 and 32

1992 • 120 citations

Connexin 31 (GJB3) is expressed in the peripheral and auditory nerves and causes neuropathy and hearing impairment

2001 • 119 citations

Localization of the Usher syndrome type ID gene (Ush1D) to chromosome 10

1996 • 117 citations

The anatomy and development of the mutants pirouette, shaker-1 and waltzer in the mouse

1956 • 116 citations

Candidate Locus for a Nuclear Modifier Gene for Maternally Inherited Deafness

2000 • 113 citations

Mutation analysis of the mouse myosin VIIA deafness gene

1997 • 113 citations

Tectorin mRNA expression is spatially and temporally restricted during mouse inner ear development

1999 • 113 citations

Linkage of congenital recessive deafness (gene DFNB10) to chromosome 21q22.3.

1996 • 113 citations

Eya1 expression in the developing ear and kidney: Towards the understanding of the pathogenesis of branchio-oto-renal (BOR) syndrome

1998 • 112 citations

Structural Determinants of KvLQT1 Control by the KCNE Family of Proteins

2001 • 112 citations

X-linked mixed deafness with congenital fixation of the stapedial footplate and perilymphatic gusher.

1971 • 111 citations

The A1555G Mutation in the 12S rRNA Gene of Human mtDNA: Recurrent Origins and Founder Events in Families Affected by Sensorineural Deafness

1999 • 109 citations

Temporal bone analysis of patients with presbycusis reveals high frequency of mitochondrial mutations

1997 • 105 citations

mdfw:A Deafness Susceptibility Locus That Interacts with Deaf Waddler (dfw)

1997 • 104 citations

Regulation of Connexin Channels by pH

1999 • 104 citations

Expression of myosin VIIA during mouse embryogenesis

1997 • 104 citations

Linkage of DFNB1 to Non-Syndromic Neurosensory Autosomal-Recessive Deafness in Mediterranean Families

1997 • 104 citations

Characterization of unconventional MYO6, the human homologue of the gene responsible for deafness in Snell's waltzer mice

1997 • 104 citations

Pendrin, the Protein Encoded by the Pendred Syndrome Gene (PDS), Is an Apical Porter of Iodide in the Thyroid and Is Regulated by Thyroglobulin in FRTL-5 Cells

2000 • 103 citations

Molecular cloning and characterization of a new member of the gap junction gene family, connexin-31.

1991 • 102 citations

Linkage of DFNB1 to non-syndromic neurosensory autosomal-recessive deafness in Mediterranean families.

1997 • 102 citations

Mitochondrial defects and hearing loss

2000 • 101 citations

Apparent Digenic Inheritance of Waardenburg Syndrome Type 2 (WS2) and Autosomal Recessive Ocular Albinism (AROA)

1997 • 101 citations

Expression of Na⁺/I⁻Symporter and Pendred Syndrome Genes in Trophoblast Cells¹

2000 • 99 citations

Determination of the carrier frequency of the common GJB2 (connexin-26) 35delG mutation in the Belgian population using an easy and reliable screening method

1999 • 99 citations

Linkage of congenital, recessive deafness (DFNB4) to chromosome 7q31 and evidence for genetic heterogeneity in the Middle Eastern Druze population

1995 • 98 citations

Localization of a gene for non-syndromic hearing loss (DFNA5) to chromosome 7p15

1995 • 97 citations

A Second Gene for Otosclerosis, OTSC2, Maps to Chromosome 7q34-36

2001 • 95 citations

Two large Spanish pedigrees with nonsyndromic sensorineural deafness and the mtDNA mutation at nt 1555 in the 12S rRNA gene

1997 • 95 citations

Mutations in the connexin26/GJB2 gene are the most common event in non-syndromic hearing loss among the German population

2001 • 94 citations

Three novel connexin26 gene mutations in autosomal recessive non-syndromic deafness

2001 • 93 citations

A gene for a dominant form of non-syndromic sensorineural deafness (DFNA11) maps within the region containing the DFNB2 recessive deafness gene

1996 • 91 citations

Dilated Cardiomyopathy and Sensorineural Hearing Loss

2000 • 91 citations

Human Nonsyndromic Hereditary Deafness DFNA17 Is Due to a Mutation in Nonmuscle MyosinMYH9

2000 • 88 citations

Ionic currents in isolated vestibular hair cells from the guinea-pig crista ampullaris

1991 • 88 citations

Hearing impairment and neurological dysfunction associated with a mutation in the mitochondrial tRNASer(UCN) gene

1999 • 87 citations

Genetic analysis of the connexin-26 M34T variant: identification of genotype M34T/M34T segregating with mild-moderate non-syndromic sensorineural hearing loss

2001 • 86 citations

Sensorineural hearing loss and the incidence of Cx26 mutations in Austria

2001 • 86 citations

Heterozygous glycine substitution in the COL11A2 gene in the original patient with the Weissenbacher-Zweym�ller syndrome demonstrates its identity with heterozygous OSMED (nonocular Stickler syndrome)

1998 • 85 citations

A gene responsible for a dominant form of neurosensory non-syndromic deafness maps to the NSRD1 recessive deafness gene interval

1994 • 85 citations

Expression of connexin 31 in the developing mouse cochlea

2000 • 84 citations

Progressive Sensorineural Hearing Loss and a Widened Vestibular Aqueduct in Pendred Syndrome

1998 • 82 citations

Contribution of connexin 26 mutations to nonsyndromic deafness in Ashkenazi patients and the variable phenotypic effect of the mutation 167delT

2000 • 82 citations

Direct measurement of longitudinal endolymph flow rate in the guinea pig cochlea

1986 • 82 citations

A Gene Responsible for a Sensorineural Nonsyndromic Recessive Deafness Maps to Chromosome 2p22-23

1996 • 79 citations

Mapping of DFNB12, a gene for a non-syndromal autosomal recessive deafness, to chromosome 10q21-22

1996 • 79 citations

Molecular cloning of chick beta-tectorin, an extracellular matrix molecule of the inner ear.

1995 • 79 citations

Autosomal Dominant Sensorineural Hearing Loss: Pedigrees, Audiologic Findings, and Temporal Bone Findings in Two Kindreds

1991 • 79 citations

Genetic Modification of Hearing in Tubby Mice: Evidence for the Existence of a Major Gene (moth1) Which Protects Tubby Mice from Hearing Loss

1999 • 77 citations

Connexin mutations associated with palmoplantar keratoderma and profound deafness in a single family

2000 • 75 citations

Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with non-syndromic autosomal recessive deafness

2001 • 75 citations

Pendred syndrome: Phenotypic variability in two families carrying the samePDS missense mutation

2000 • 75 citations

Genetic testing for hereditary hearing loss: Connexin 26 (GJB2) allele variants and two novel deafness-causing mutations (R32C and 645-648delTAGA)

2000 • 72 citations

Autosomal Recessive Nonsyndromic Neurosensory Deafness at DFNB1 Not Associated with the Compound-Heterozygous GJB2 (Connexin 26) Genotype M34T/167delT

2000 • 70 citations

Expression of Na+/I- Symporter and Pendred Syndrome Genes in Trophoblast Cells

2000 • 70 citations

Fluctuating sensorineural hearing loss associated with enlarged vestibular aqueduct maps to 7q31, the region containing the pendred gene

1999 • 69 citations

A novel C202F mutation in the connexin26 gene (GJB2) associated with autosomal dominant isolated hearing loss

2000 • 69 citations

A gene for autosomal dominant late-onset progressive non-syndromic hearing loss, DFNA10, maps to chromosome 6

1996 • 68 citations

Further mutations in Brain 4 (POU3F4) clarify the phenotype in the X-linked deafness, DFN3

1995 • 68 citations

Tails of unconventional myosins

1999 • 67 citations

The contribution of the DFNB1 locus to neurosensory deafness in a Caucasian population.

1995 • 66 citations

Changes in the subcellular localization of the Brn4 gene product precede mesenchymal remodeling of the otic capsule

1998 • 66 citations

Expression of Pendrin and the Pendred Syndrome (PDS) Gene in Human Thyroid Tissues

2000 • 65 citations

Genetic Mapping Refines DFNB3 to 17p11.2, Suggests Multiple Alleles of DFNB3, and Supports Homology to the Mouse Model shaker-2

1998 • 64 citations

The gene for X-linked progressive mixed deafness with perilymphatic gusher during stapes surgery (DFN3) is linked to PGK

1988 • 64 citations

Mutations in the KCNQ4 K+ channel gene, responsible for autosomal dominant hearing loss, cluster in the channel pore region

2000 • 63 citations

X-linked mixed deafness with stapes fixation in a Mauritian kindred: Linkage to Xq probe pDP34

1988 • 63 citations

Deafness heterogeneity in a Druze isolate from the Middle East: novel OTOF and PDS mutations, low prevalence of GJB2 35delG mutation and indication for a new DFNB locus

2000 • 61 citations

Identification of a novelCOCH mutation, I109N, highlights the similar clinical features observed in DFNA9 families

2001 • 61 citations

A gene for autosomal dominant nonsyndromic hearing loss (DFNA12) maps to chromosome 11q22-24.

1997 • 60 citations

Snell's waltzer, a new mutation affecting behaviour and the inner ear in the mouse

1966 • 58 citations

Association of Mitochondrial DNA Deletions and Cochlear Pathology: A Molecular Biologic Tool

1996 • 57 citations

Evidence for Digenic Inheritance of Nonsyndromic Hereditary Hearing Loss in a Swedish Family

1998 • 55 citations

New gene for autosomal recessive non-syndromic hearing loss maps to either chromosome 3q or 19p

1997 • 54 citations

A Gene for Recessive Nonsyndromic Sensorineural Deafness (DFNB18) Maps to the Chromosomal Region 11p14–p15.1 Containing the Usher Syndrome Type 1C Gene

1998 • 54 citations

Human Connexin 30 (GJB6), a Candidate Gene for Nonsyndromic Hearing Loss: Molecular Cloning, Tissue-Specific Expression, and Assignment to Chromosome 13q12

1999 • 53 citations

Comparative Surface Studies of Ototoxic Effects of Various Aminoglycoside Antibiotics on the Organ of Corti in the Guinea Pig A Scanning Electron Microscopic Study

1977 • 52 citations

Mutation in the zonadhesin-like domain of α-tectorin associated with autosomal dominant non-syndromic hearing loss

1999 • 52 citations

Myosin VI

2000 • 52 citations

Effects of formate and oxalate on volume absorption in rat proximal tubule

1992 • 50 citations

Audiovestibular Findings in Patients With Deafness Caused by a Mitochondrial Susceptibility Mutation and Precipitated by an Inherited Nuclear Mutation or Aminoglycosides

1996 • 50 citations

Frequency of mitochondrial DNA point mutations among patients with familial sensorineural hearing impairment

2000 • 49 citations

A Novel Locus for Autosomal Dominant Nonsyndromic Hearing Loss, DFNA13, Maps to Chromosome 6p

1997 • 48 citations

Tightly linked flanking microsatellite markers for the Usher syndrome type I locus on the short arm of chromosome 11.

1994 • 48 citations

Linkage Analysis of Progressive Hearing Loss in Five Extended Families Maps the DFNA2 Gene to a 1.25-Mb Region on Chromosome 1p

1997 • 48 citations

The Membrane-based Mechanism of Cell Motility in Cochlear Outer Hair Cells

1998 • 48 citations

Studies on Progressive Hereditary Perceptive Deafness in A Family of 335 Members: I. Genetical and General Audiological Results

1966 • 46 citations

Direct High Affinity Modulation of Connexin Channel Activity by Cyclic Nucleotides

1999 • 45 citations

Identification of three novel mutations in the USH1C gene and detection of thirty-one polymorphisms used for haplotype analysis

2000 • 45 citations

Immunocytochemical localization of contractile and contraction associated proteins in the spiral ligament of the cochlea

1985 • 44 citations

Twister mutant mice are defective for otogelin, a component specific to inner ear acellular membranes

2000 • 43 citations

Autosomal-dominant, prelingual, nonprogressive sensorineural hearing loss: localization of the gene (DFNA8) to chromosome 11q by linkage in an Austrian family

1998 • 42 citations

Modifier genes of hereditary hearing loss

2000 • 41 citations

Molecular Analysis of the Pou3F4 Gene in Patients with Clinical and Radiographic Evidence of X-Linked Mixed Deafness with Perilymphatic Gusher

1997 • 40 citations

The sex-linked fidget mutation abolishes Brn4/Pou3f4 gene expression in the embryonic inner ear

2000 • 40 citations

Further Characterization of the DFNA1 Audiovestibular Phenotype

1998 • 40 citations

A Five-Generation Family with Late-Onset Progressive Hereditary Hearing Impairment Due to Cochleosaccular Degeneration

1997 • 39 citations

Low frequency hereditary deafness in man with childhood onset.

1981 • 39 citations

The molecular basis of X-linked deafness type 3 (DFN3) in two sporadic cases: Identification of a somatic mosaicism for aPOU3F4 missense mutation

1997 • 35 citations

Antibodies to the sulphated, high molecular mass mouse tectorin stain hair bundles and the olfactory mucus layer

1997 • 33 citations

Molecular genetics of hearing impairment due to mutations in gap junction genes encoding beta connexins

2000 • 30 citations

A new mutation in the POU3F4 gene in a japanese family with x‐linked mixed deafness (DFN3)

1998 • 29 citations

A new autosomal-dominant locus (DFNA12) is responsible for a nonsyndromic, midfrequency, prelingual and nonprogressive sensorineural hearing loss.

1998 • 29 citations

The phenotype of DFNA13/: Nonsyndromic autosomal dominant mid-frequency and high-frequency sensorineural hearing impairment

2000 • 29 citations

Familial Progressive Vestibulocochlear Dysfunction Caused by a COCH Mutation (DFNA9)

2000 • 28 citations

Clinical Characterization of Genetic Hearing Loss Caused by a Mutation in the POU4F3 Transcription Factor

2000 • 28 citations

Human Gap Junction Protein Connexin31: Molecular Cloning and Expression Analysis

1998 • 28 citations

The deafness locus (dn) maps to mouse Chromosome 19

1995 • 28 citations

Heteromeric gap junction channels in rat hepatocytes in which the expression of connexin26 is induced.

1998 • 28 citations

A high-resolution genetic map around waltzer on mouse Chromosome 10 and identification of a new allele of waltzer

1997 • 26 citations

A Follow-Up Study in a Family with Dominant Progressive Inner Ear Deafness

1983 • 25 citations

Heteromeric Gap Junction Channels in Rat Hepatocytes in Which the Expression of Connexin26 is Induced

1998 • 25 citations

Autosomal-Dominant Progressive Sensorineural Hearing Loss in a Large North American Family

1996 • 24 citations

Accumulation of Potassium in Scala Vestibuli Perilymph of the Mammalian Cochlea

1993 • 23 citations

Rat Connexins 30.3 and 31 Are Expressed in the Kidney

1994 • 23 citations

Mitochondrial A7445G mutation in two pedigrees with palmoplantar keratoderma and deafness

1998 • 21 citations

Cochlear signs of streptomycin intoxication.

1950 • 21 citations

Close linkage of the olfactory marker protein gene to the mouse deafness mutation shaker-1

1992 • 20 citations

Ionic properties of IK,n in outer hair cells of guinea pig cochlea

1994 • 20 citations

Problems of the Deaf

2012 • 19 citations

Genomic structure of the human unconventional myosin VI gene

2000 • 19 citations

A new direction for myosin

2000 • 16 citations

The diversity of molecular motors: an overview

1999 • 15 citations

Chromosomal localization of a gene responsible for vestibulocochlear defects of BUS/Idr mice: identification as an allele of waltzer

1999 • 13 citations

Refined localization and two additional linked families for the DFNA10 locus for nonsyndromic hearing impairment

2000 • 12 citations

Cytoskeleton: Getting to the point with myosin VI

2000 • 12 citations

Problems of the deaf. By Max A. Goldstein, M.D., F.A.C.S.; Director, Central Institute for the Deaf; Professor of Otology, St. Louis University, 1900‐1912; President, American Academy of Ophthalmology and Otolaryngology, 1902; President, American Otological Society, 1928; President, American Laryngological, Rhinological and Otological Society, 1931; President, Society of Progressive Oral Advocates, 1917‐1933; Editor, The Laryngoscope; Editor, Oralism and Auralism. 580 pages; 273 illustrations; …

1933 • 11 citations

Paulus Zacchias on mental deficiency and on deafness.

1970 • 11 citations

New gene for autosomal recessive non‐syndromic hearing loss maps to either chromosome 3q or 19p

1997 • 11 citations

Pendred syndrome: Phenotypic variability in two families carrying the same PDS missense mutation

2000 • 10 citations

Tectorin mRNA expression is spatially and temporally restricted during mouse inner ear development

1999 • 9 citations

Refined localization and two additional linked families for the DFNA10 locus for nonsyndromic hearing impairment

2000 • 6 citations

Identification of three novel mutations in the USH1C gene and detection of thirty-one polymorphisms used for haplotype analysis

2001 • 5 citations

Fluctuating sensorineural hearing loss associated with enlarged vestibular aqueduct maps to 7q31, the region containing the pendred gene

1999 • 4 citations

The molecular basis of X‐linked deafness type 3 (DFN3) in two sporadic cases: Identification of a somatic mosaicism for a POU3F4 missense mutation

1997 • 3 citations