ライフサイエンスコーパス: deafness

1 syndromes (maternally inherited diabetes and deafness).

2 vere craniosynostosis with severe conductive deafness).

3 emained unchanged in animals with congenital deafness.

4 sual-based phonological task in post-lingual deafness.

5 arget a dominantly inherited form of genetic deafness.

6 aring loss in a mouse model of human genetic deafness.

7 tion of tTJ proteins contributes to familial deafness.

8 COMT that is linked to schizophrenia, cause deafness.

9 rts to restore these cells in cases of human deafness.

10 al practice to sequence ATOH1 in people with deafness.

11 n hair cells and underlie nonsyndromic human deafness.

12 f the right temporal cortex during and after deafness.

13 associated with ichthyosis and sensorineural deafness.

14 tes, congenital cataracts, and sensorineural deafness.

15 e models DFNB1 nonsyndromic hearing loss and deafness.

16 tion also leading to loss of MET current and deafness.

17 the m.7551A > G mutation are associated with deafness.

18 enes are associated with hereditary forms of deafness.

19 microphthalmia, macrocephaly, albinism, and deafness.

20 mouse line with an Nptn mutation that causes deafness.

21 itory cortex remained auditory in congenital deafness.

22 inant-negative MAFB mutation causing DRS and deafness.

23 t and Toddler Development III, blindness, or deafness.

24 ng cats and those with early- and late-onset deafness.

25 to disease or trauma, is a leading cause of deafness.

26 CMV) infection is a major cause of childhood deafness.

27 dly applicable as a therapy for this type of deafness.

28 in, a binding partner of CDH23 implicated in deafness.

29 idosis, hypotonia, feeding difficulties, and deafness.

30 , causing palmoplantar keratoderma (PPK) and deafness.

31 utosomal-dominant, nonsyndromic, early-onset deafness.

32 ch also ruled out p.Arg1066* as the cause of deafness.

33 ene are found in most cases of human genetic deafness.

34 ng cats, and cats with early- or adult-onset deafness.

35 auditory stimuli, resulting in inattentional deafness.

36 and ILDR1 (DFNB42) cause human nonsyndromic deafness.

37 cy suffer severe neurological disability and deafness.

38 and maintenance, and their absence leads to deafness.

39 myosin 15 stunt stereocilia growth and cause deafness.

40 ring organ could underlie the DFNA58 form of deafness.

41 pressed in hair cells often cause hereditary deafness.

42 nt (DFNA8/12) or recessive (DFNB21) forms of deafness.

43 ng cats and those with early- and late-onset deafness.

44 they do not regenerate, leading to permanent deafness.

45 icular tachycardia, and congenital bilateral deafness.

46 did not have seizures and three did not have deafness.

47 ence, tinnitus would not exist in congenital deafness.

48 e interpretation of genetic variants causing deafness.

49 dition associating motor neuropathy (MN) and deafness.

50 nome that include regions in genes linked to deafness.

51 ccount for most cases of profound congenital deafness.

52 on and one, SPNS2, was involved in childhood deafness.

53 he most frequent genetic forms of congenital deafness.

54 n overexpression of HGF, causes neurosensory deafness.

55 oblastic anemia, diabetes, and sensorineural deafness.

56 area in individuals with early and profound deafness.

57 both sexes (Atoh1(lacZ/+)) have adult-onset deafness.

58 rats, which is partly reversed 90 days after deafness.

59 nce gene therapy approaches to treat genetic deafness.

60 by congenital, prelingual, and long standing deafness?

61 monkeys showed that social isolation [2, 3], deafness [2], cross-fostering [4] and parental absence [

62 ntal delay or arrest (7/7), hypotonia (6/7), deafness (7/7) and inability to speak (6/7).

63 nd is defective in human autosomal-recessive deafness 93 (DFNB93).

64 In congenital deafness, a previous inactivation study documented that

65 Autosomal dominant deafness accounts for approximately 20% of cases of here

66 Many genetic forms of congenital deafness affect the sound reception antenna of cochlear

67 unctional adaptation following early or late deafness, afferent projections to AAF were examined in h

68 cilin, a model of the DFNB16 genetic form of deafness, also characterized by congenital mild-to-moder

69 NA causes maternally inherited, nonsyndromic deafness, an extreme case of tissue-specific mitochondri

70 physeal dysplasia (CMD), mental retardation, deafness and ankylosis syndrome (MRDA).

71 auditory and vestibular hair cells, causing deafness and balance defects.

72 Loss of sensory hair cells leads to deafness and balance deficiencies.

73 lular cadherin (EC) repeats, are involved in deafness and balance disorders and assemble as parallel

74 ype 1G, characterized by congenital profound deafness and balance disorders.

75 pinball wizard (pwi) line, which displays a deafness and blindness phenotype.

76 r syndrome type 1, characterized by combined deafness and blindness.

77 r characterized by early-onset sensorineural deafness and brain anomalies.

78 al vestibular schwannomas (VSs) resulting in deafness and brainstem compression.

79 ght into the pathophysiology of human DFNB42 deafness and demonstrate that ILDR1 is crucial for norma

80 Mutations in otoferlin result in deafness and depending on the species, mild to strong ve

81 nts presented with early-onset sensorineural deafness and distal renal tubular acidosis.

82 is strongly associated with diseases such as deafness and epilepsy.

83 e vasculature in animal models of congenital deafness and ischemic stroke, revealing that vascular pl

84 eport siblings with congenital sensorineural deafness and lactic acidemia in association with combine

85 oaciduria, seizures, bilateral sensorineural deafness and learning difficulties.

86 ifestations of fetal HCMV disease range from deafness and learning disabilities to more severe sympto

87 may result in lifelong complications such as deafness and learning disabilities.

88 E) and autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN).

89 al for autosomal dominant cerebellar ataxia, deafness and narcolepsy are located in the C-terminus en

90 der of autosomal dominant cerebellar ataxia, deafness and narcolepsy.

91 ensive approach for management of congenital deafness and prevention of ototoxicity.

92 ial RC dysfunction, congenital sensorineural deafness and progressive hepatic and renal failure.

93 at hearing loss in human hypoparathyroidism, deafness and renal anomaly (HDR) syndrome arises from fu

94 ssociated with the human hypoparathyroidism, deafness and renal anomaly (HDR) syndrome.

95 e 1 (USH1), NGS of genes for Usher syndrome, deafness and retinal dystrophy and subsequent whole-exom

96 d perturbations to HC proteins can result in deafness and severe imbalance.

97 complexes affected in two forms of syndromic deafness and suggests a molecular function for Myosin II

98 ing visual cortical areas from 2 weeks after deafness and these changes stabilize three months after

99 with DFNX2, the most common form of X-linked deafness and typically include developmental malformatio

100 s an excellent model system for the study of deafness and vestibular disease.

101 ve recently been identified as causative for deafness and vestibular dysfunction (DFNB18B).

102 lly deaf, (2) common in people with acquired deafness, and (3) potentially suppressed by active cochl

103 cterized by neonatal diabetes, sensorineural deafness, and congenital cataracts.

104 hway enzyme, develop SRNS with sensorineural deafness, and demonstrated the beneficial effect of CoQ

105 ations: GJB2, the leading cause of childhood deafness, and DIAPH3, a cause of auditory neuropathy.

106 w insights into the developmental origins of deafness, and guide efforts to restore connectivity in t

107 such as in hypoparathyroidism, sensorineural deafness, and renal (HDR) syndrome - by OPG therapy.

108 y also causes human HDR (hypoparathyroidism, deafness, and renal dysplasia) syndrome, often accompani

109 es blindness, balance disorders and profound deafness, and studied a knock-in mouse model, Ush1c c.21

110 thalmologic anomalies, feeding difficulties, deafness, and subtle dysmorphic facial features.

111 tical malformations, coloboma, sensorineural deafness, and typical facial features.

112 s of deafness, treatment options for genetic deafness are limited.

113 e auditory function in mouse models of human deafness are most effective when administered before hea

114 Cerebral palsy, blindness, and deafness assessed by a pediatrician; cognitive, language

115 Ildr1 mutant alleles have early-onset severe deafness associated with a rapid degeneration of cochlea

116 2 (connexin [Cx]26) cause either deafness or deafness associated with skin diseases.

117 Some mutations produce syndromic deafness associated with skin disorders, like the Kerati

118 g loss and accounts for at least some of the deafness associated with the human hypoparathyroidism, d

119 The deafness associated with the mutation may be caused by c

120 nts that preferentially disrupt the dominant deafness-associated allele in the Tmc1 (transmembrane ch

121 Furthermore, expression of deafness-associated CX26 and CX30 in cell culture result

122 ated the pathogenic mechanism underlying the deafness-associated mitochondrial(mt) tRNA(Asp) 7551A >

123 d hair cells, a pattern that is disrupted by deafness-associated PJVK mutations.

124 l processing unit acceleration to repack all deafness-associated proteins and thereby improve average

125 We show here that Whirlin/Deafness autosomal recessive 31 (DFNB31), a PDZ-scaffold

126 rders, including renal tubular acidosis with deafness, Bartter syndrome, primary hyperoxaluria and cy

127 with no mechanoelectrical transduction, and deafness before p56.

128 strates differences in effects of congenital deafness between supragranular and other cortical layers

129 s various isoforms and lead to non-syndromic deafness, blindness and deaf-blindness.

130 r protein myosin VIIa, can cause Usher 1B, a deafness/blindness syndrome in humans, and the shaker-1

131 dysfunction, which frequently co-occurs with deafness but often remains undiagnosed, rather than audi

132 206Lys developed cataracts and sensorineural deafness, but nephrotic syndrome in only one case of ske

133 mouse, a murine model of non-syndromic human deafness caused by a dominant gain-of-function mutation

134 process are likely mechanistically linked to deafness caused by mutations in LRTOMT/Tomt.

135 Congenital deafness causes large changes in the auditory cortex str

136 er, there are TMC1 mutations linked to human deafness causing loss of conventional MET currents, hair

137 erence-mediated suppression of an endogenous deafness-causing allele to slow progression of hearing l

138 MC2, and these interactions are disrupted by deafness-causing Cib2 mutations.

139 We also found that a deafness-causing missense mutation in otoferlin attenuat

140 ex provides mechanistic explanations for >20 deafness-causing mutations in Myo7a CMF.

141 I-specific drugs that rescue the function of deafness-causing mutations.

142 iseases including nonsyndromic sensorineural deafness, Charcot-Marie-Tooth disease-5, and Arts Syndro

143 Duration of deafness correlated positively with metabolism of the co

144 d in ZP2 but is conserved in the sequence of deafness/Crohn's disease-associated homopolymeric glycop

145 enes also involved in nonsyndromic recessive deafness (DFNB).

146 al a novel mechanism that may underlie human deafness DFNB39 and DFNB97.

147 ants in HGF are associated with nonsyndromic deafness DFNB39 However, the mechanism by which these no

148 Previously, we reported that human deafness DFNB39 is associated with noncoding variants in

149 mplex pathogenetic mechanisms underlie human deafness DFNB59.

150 OMT/LRTOMT) is responsible for non-syndromic deafness DFNB63.

151 superfamily, causes non-syndromic recessive deafness DFNB66 in a Tunisian family.

152 Therefore, we conclude that human deafness DFNB93 is an auditory synaptopathy.

153 ths (2 before 6 months) (5/5), sensorineural deafness diagnosed soon after birth (5/5), congenital ca

154 show that Eya1, which is mutated in a human deafness disorder, branchio-oto-renal syndrome, is criti

155 tations in the C terminus that are linked to deafness disrupt phospholipid binding, sensitize the cha

156 e in humans and that its disruption leads to deafness due to cochlear aplasia.

157 Auditory deprivation in the form of deafness during development leads to lasting changes in

158 PRETATION: MEGDHEL syndrome is a progressive deafness-dystonia syndrome with frequent and reversible

159 lonus-dystonia, dopa-responsive dystonia and deafness-dystonia syndrome.

160 nephrotic syndrome, cataracts, sensorineural deafness, enterocolitis, and early lethality in two pedi

161 This regimen also slowed progression of deafness for a boy with GJB2 (CONNEXIN 26) mutations.

162 The greatest problem with deafness for a skilled composer is interference from int

163 Myosin IIIa, defective in the late-onset deafness form DFNB30, has been proposed to transport esp

164 es result in dominant or recessive heritable deafness forms in humans and mice.

165 Our results reveal DCDC2a to be a deafness gene and a player in hair cell kinocilia and su

166 s of IE sensory cells may hold potential for deafness gene discovery.

167 Disruption of the deafness gene GIPC3 in mice shifted the activation of pr

168 tion apparatus have been identified, most as deafness gene products.

169 We identified Neuroplastin as a novel deafness gene required for ribbon synapse formation and

170 Deafness gene variants can thus result in a continuum of

171 h identified seventeen variants in ten known deafness genes and one novel candidate gene.

172 We found that many of the known hereditary deafness genes are much more highly expressed in hair ce

173 Approximately one-third of known deafness genes encode proteins located in the hair bundl

174 hannel-like), have emerged from discovery of deafness genes in humans and mice.

175 Targeted sequencing of known deafness genes is one of the best choices to identify th

176 y, identifies unexpected functions for human deafness genes TMIE/TMEM132e, and enables drug discovery

177 In total, 129 known human deafness genes were sequenced using next-generation sequ

178 el, which is homologous to the mammalian tmc deafness genes, attenuates development and inhibits sexu

179 deafness loci, potentially representing new deafness genes.

180 ed with that of targeted sequencing of known deafness genes.

181 n hair cells are good candidates for unknown deafness genes.

182 genes that are linked to inherited forms of deafness has recently provided tantalizing clues.

183 ch, based on the study of inherited forms of deafness, has proven to be particularly effective for de

184 Although many new genes contributing to deafness have been identified, very little is known abou

185 hermore, the majority of previous studies on deafness have involved the primary auditory cortex; know

186 eity of behavioral disorders associated with deafness have usually focused on socio-environmental rat

187 of the hypoparathyroidism, renal dysplasia, deafness (HDR) syndrome that includes mesangioproliferat

188 and the shaker-1 phenotype, characterized by deafness, head tossing, and circling behavior, in mice.

189 3-Methylglutaconic aciduria, dystonia-deafness, hepatopathy, encephalopathy, Leigh-like syndro

190 tural brain abnormalities with sensorineural deafness, hypothyroidism, and frequent infections as wel

191 tural brain abnormalities with sensorineural deafness, hypothyroidism, and frequent infections compri

192 (AAV)-mediated SaCas9-KKH delivery prevented deafness in Beethoven mice up to one year post injection

193 ction myosin, myosin VI, are associated with deafness in humans and mice.

194 mouse model (Snell's waltzer) for hereditary deafness in humans that has a mutation in the gene encod

195 ix-C2 domain transmembrane protein linked to deafness in humans, is hypothesized to play a role in ex

196 odels for the most common form of congenital deafness in humans, which are knock-outs for the gap-jun

197 odels for the most common form of congenital deafness in humans, which are knockouts for the gap-junc

198 Determining the cause of deafness in individuals without previous family history

199 entional myosin, myosin VI, cause hereditary deafness in mice (Snell's waltzer) and humans.

200 Mutations in the microRNA Mir96 cause deafness in mice and humans.

201 al MET currents, hair cell degeneration, and deafness in mice.

202 uned as an excess or deficiency of HGF cause deafness in mouse.

203 is a leading cause of mental retardation and deafness in newborns.

204 is a leading cause of mental retardation and deafness in newborns.

205 Genetic studies of inherited deafness in the past decades have uncovered several mole

206 ncodes VGLUT3 is responsible for progressive deafness in two unrelated families.

207 boring visual cortical areas after bilateral deafness in young adult rats.

208 on and recapitulates disease symptoms (e.g., deafness) in newborn pups.

209 ear and cytoplasmic PPIs implicated in human deafness, in addition to dissecting these interactions u

210 Deafness-induced degeneration of these cells can be aver

211 Following early deafness, inputs from second auditory cortex (A2) are am

212 loss of function but includes sensorineural deafness, intellectual disability, seizures, brachycepha

213 These results suggest that following deafness, involvement of visual cortex in the context of

214 c deafness.SIGNIFICANCE STATEMENT Hereditary deafness is a common, clinically and genetically heterog

215 HGF-associated deafness is a neurocristopathy but, unlike many other ne

216 Gene therapy for genetic deafness is a promising approach by which to prevent hea

217 Keratitis-ichthyosis-deafness (KID) syndrome is a severe, untreatable conditi

218 Keratitis-ichthyosis-deafness (KID) syndrome is an ectodermal dysplasia cause

219 skin of a patient with keratitis-ichthyosis-deafness (KID) syndrome.

220 Congenital deafness leads to functional deficits in the auditory co

221 Importantly, deafness-linked proteins were significantly enriched in

222 by immunohistochemistry map to human genetic deafness loci, potentially representing new deafness gen

223 italia, Retardation of growth, sensorineural Deafness; LS), also called Noonan syndrome with multiple

224 terozygous GATA2 mutation is associated with deafness, lymphedema, mononuclear cytopenias, infection,

225 d suggest that biological therapies to treat deafness may be suitable for translation to humans with

226 omatosensory afferent connectivity following deafness may reflect corticocortical rewiring affording

227 aternally inherited diabetes with or without deafness (MIDD) syndrome.

228 ation of this effect by a longer duration of deafness might indicate reorganization at the cortical l

229 hough m.1555A>G was identified as a cause of deafness more than twenty years ago, the pathogenic mech

230 Deafness mutant DCDC2a expression in hair cells and supp

231 Several Myo7a deafness mutants that map to the surface of MF2 disrupt

232 A myosin VI deafness mutation, D179Y, which is in the transducer of

233 , Tmc1 p.D569N, homologous to a human DFNA36 deafness mutation, which also had MET channels with lowe

234 tion (D569N), homologous to a dominant human deafness mutation.

235 Indeed, many deafness mutations that disable hair-cell cytoskeletal p

236 The age of deafness onset appeared to influence afferent connectivi

237 itory cortex differs depending on the age of deafness onset.

238 evere neurodegeneration, epilepsy, and DOOR (deafness, onychdystrophy, osteodystrophy, and mental ret

239 Epilepsy, deafness, onychodystrophy, osteodystrophy and intellectu

240 had a clinical diagnosis of DOORS syndrome (deafness, onychodystrophy, osteodystrophy, mental retard

241 epileptic encephalopathy and DOORS syndrome (deafness, onychodystrophy, osteodystrophy, mental retard

242 ntral and peripheral nervous system, include deafness, optic neuropathy-previously not reported in HS

243 lost hair cells, whose loss often results in deafness or balance disorders.

244 tions in GJB2 (connexin [Cx]26) cause either deafness or deafness associated with skin diseases.

245 composite score of less than 70, blindness, deafness, or cerebral palsy at 18 to 22 months corrected

246 to the Deafness Variation Database to inform deafness pathogenicity prediction.

247 K syndrome (mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratod

248 CPEO, mitochondrial myopathy, sensorineural deafness, peripheral neuropathy, parkinsonism, and/or co

249 , the disruption of which contributes to the deafness phenotype observed in mice and DFNB1 patients.

250 on in transduced cells and a reversal of the deafness phenotype, raising hopes for future gene therap

251 By exploiting a well-curated deafness phenotype-genotype database, we identified amin

252 rising properties that may contribute to the deafness phenotype.

253 We also show that the D101G deafness point mutation in cadherin 23, which affects a

254 for autosomal dominant early-onset forms of deafness, predicted to be pathogenic, were detected in 2

255 t hearing loss from 2 months of age, and the deafness progressed with aging, while the vestibular fun

256 and unusual facial features, with diabetes, deafness, progressive muscle wasting and ectopic calcifi

257 ependently in each ear do not fully overcome deafness-related binaural processing deficits, even afte

258 n-binding protein 2 and one carrying a human deafness-related Cib2 mutation, and show that both are d

259 However, the pathophysiology of DFNB42 deafness remains unknown.

260 use the DFNB18B and DFNB84B genetic forms of deafness, respectively, both characterized by congenital

261 es), a condition that includes sensorineural deafness, shortened terminal phalanges with small finger

262 progressive cortical atrophy, neurosensorial deafness, sideroblastic anemia and renal Fanconi syndrom

263 EP, recapitulating human DFNB39 nonsyndromic deafness.SIGNIFICANCE STATEMENT Hereditary deafness is a

264 lopmental delay, microcephaly, sensorineural deafness, spastic quadriparesis and progressive cortical

265 Bothersome tinnitus in single-sided deafness (SSD) is particularly challenging to treat beca

266 kin disorders, like the Keratitis-Ichthyosis-Deafness syndrome (KID).

267 x26 associated with the keratitis ichthyosis deafness syndrome (N14K, A40V and A88V), in combination

268 ear in individuals with keratitis-ichthyosis-deafness syndrome and finding somatic mutations in their

269 n autosomal recessive keratoderma-ichthyosis-deafness syndrome.

270 of having a child with keratitis-ichthyosis-deafness syndrome.

271 re multisystem disorder keratitis-ichthyosis-deafness syndrome.

272 anulocytosis, lymphopenia, and sensorineural deafness that requires hematopoietic stem cell transplan

273 he pathophysiology of maternally transmitted deafness that was manifested by altered nucleotide modif

274 neural mechanisms underlying "inattentional deafness"--the failure to perceive auditory stimuli unde

275 After sensory loss and deafness, the brain's effective connectivity is altered

276 lear reinnervation during regeneration-based deafness therapies.SIGNIFICANCE STATEMENT Planar cell po

277 Following early deafness, there was a significant decrease in callosal p

278 DFNB86, a locus associated with nonsyndromic deafness, to chromosome 16p.

279 anism whereby Cx26 mutations causing PPK and deafness transdominantly influence multiple functions of

280 rs contribute to almost half of all cases of deafness, treatment options for genetic deafness are lim

281 ies the neural underpinning of inattentional deafness under high visual load.

282 is often accompanied by diabetes insipidus, deafness, urological and neurological complications in c

283 Here, we reveal the cause of this deafness using a mouse model engineered with a noncoding

284 ssing but does not fully overcome effects of deafness using present CI devices.

285 s indicate that similar to familial cases of deafness, variants in a large number of genes are respon

286 abase, which are being incorporated into the Deafness Variation Database to inform deafness pathogeni

287 ,000 structures for missense variants in the Deafness Variation Database, which are being incorporate

288 a novel connection between HGF signaling and deafness via melanocyte deficiencies.

289 The rate of hearing impairment or deafness was found to be 0% (0 of 751) in the neonates i

290 ion analyses demonstrated that the effect of deafness was more task-dependent in the left than the ri

291 Deafness was often diagnosed before MN (in 44%), but in

292 ism by which these noncoding variants causes deafness was unknown.

293 uineous family with congenital non-syndromic deafness, we unexpectedly identified a homozygous nonsen

294 ormalities, whereas cognitive impairment and deafness were variable features.

295 early detection and diagnosis of congenital deafness, which triggers intervention, but also in predi

296 provide a new genetic model for nonsyndromic deafness with enlarged vestibular aqueduct (EVA; OMIM #6

297 iac septal defects with valve dysplasia, and deafness with inner ear malformations.

298 d mice (including models of human hereditary deafness) with missing or modified TM proteins, we demon

299 of projections to A1 are modified following deafness, with statistically significant changes occurri

300 6 function causes nonsyndromic sensorineural deafness, without consequence in the epidermis.