1 |
ClinicalTrials.gov (NCT02132130) Safety, Tolerability and Efficacy for CGF166 in Patients With Unilateral or Bilateral Severe-to-profound Hearing Loss. U.S. National Institutes of Health.
|
2 |
ClinicalTrials.gov (NCT02065011) A Study to Determine the Long-Term Safety, Tolerability and Biological Activity of UshStat in Patients With Usher Syndrome Type 1B. U.S. National Institutes of Health.
|
3 |
The ChEMBL database in 2017. Nucleic Acids Res. 2017 Jan 4;45(D1):D945-D954.
|
4 |
Association of GRM7 variants with different phenotype patterns of age-related hearing impairment in an elderly male Han Chinese population.PLoS One. 2013 Oct 11;8(10):e77153. doi: 10.1371/journal.pone.0077153. eCollection 2013.
|
5 |
Adeno-associated virus-mediated Bcl-xL prevents aminoglycoside-induced hearing loss in mice.Chin Med J (Engl). 2007 Jul 20;120(14):1236-40.
|
6 |
22 Controls the Function and Trans-Synaptic Coupling of Cav1.3 Channels in Mouse Inner Hair Cells and Is Essential for Normal Hearing.J Neurosci. 2016 Oct 26;36(43):11024-11036. doi: 10.1523/JNEUROSCI.3468-14.2016.
|
7 |
Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss.Hum Genet. 2016 Apr;135(4):441-450. doi: 10.1007/s00439-016-1648-8. Epub 2016 Mar 11.
|
8 |
The Ala54Thr polymorphism in the fatty acid-binding protein 2 (FABP2) gene is associated with hearing impairment: a preliminary report.Auris Nasus Larynx. 2010 Aug;37(4):496-9. doi: 10.1016/j.anl.2010.01.006. Epub 2010 Mar 3.
|
9 |
Absence of KCNQ4 mutation in Bengali families with ADNSHL originated from West Bengal, India.Int J Pediatr Otorhinolaryngol. 2017 Sep;100:35-38. doi: 10.1016/j.ijporl.2017.06.004. Epub 2017 Jun 15.
|
10 |
[Protective effect of adeno-associated virus-mediated neurotrophin-3 on the cochlea of guinea pigs with gentamicin-induced hearing loss].Nan Fang Yi Ke Da Xue Xue Bao. 2007 Nov;27(11):1642-5.
|
11 |
Stroke-like episodes in OPA1 carriers require comprehensive work-up and therapeutic considerations.Metab Brain Dis. 2020 Feb;35(2):253-254. doi: 10.1007/s11011-019-00523-z. Epub 2019 Nov 28.
|
12 |
Overexpression of copper/zinc-superoxide dismutase protects from kanamycin-induced hearing loss.Audiol Neurootol. 2001 May-Jun;6(3):117-23. doi: 10.1159/000046818.
|
13 |
NOX3 NADPH oxidase couples transient receptor potential vanilloid 1 to signal transducer and activator of transcription 1-mediated inflammation and hearing loss.Antioxid Redox Signal. 2011 Mar 15;14(6):999-1010. doi: 10.1089/ars.2010.3497. Epub 2010 Dec 7.
|
14 |
Activation of lipopolysaccharide-TLR4 signaling accelerates the ototoxic potential of cisplatin in mice.J Immunol. 2011 Jan 15;186(2):1140-50. doi: 10.4049/jimmunol.1002183. Epub 2010 Dec 8.
|
15 |
In vivo and in vitro effects of two novel gamma-actin (ACTG1) mutations that cause DFNA20/26 hearing impairment.Hum Mol Genet. 2009 Aug 15;18(16):3075-89. doi: 10.1093/hmg/ddp249. Epub 2009 May 28.
|
16 |
Adenylate cyclase 1 (ADCY1) mutations cause recessive hearing impairment in humans and defects in hair cell function and hearing in zebrafish. Hum Mol Genet. 2014 Jun 15;23(12):3289-98. doi: 10.1093/hmg/ddu042. Epub 2014 Jan 29.
|
17 |
Age-related Hearing Loss Is Strongly Associated With Cognitive Decline Regardless of the APOE4 Polymorphism.Otol Neurotol. 2019 Dec;40(10):1263-1267. doi: 10.1097/MAO.0000000000002415.
|
18 |
An alteration in ELMOD3, an Arl2 GTPase-activating protein, is associated with hearing impairment in humans. PLoS Genet. 2013;9(9):e1003774. doi: 10.1371/journal.pgen.1003774. Epub 2013 Sep 5.
|
19 |
FGF21 in ataxia patients with spinocerebellar atrophy and mitochondrial disease.Clin Chim Acta. 2012 Dec 24;414:225-7. doi: 10.1016/j.cca.2012.09.019. Epub 2012 Sep 29.
|
20 |
-Secretase BACE1 Is Required for Normal Cochlear Function.J Neurosci. 2019 Nov 6;39(45):9013-9027. doi: 10.1523/JNEUROSCI.0028-19.2019. Epub 2019 Sep 16.
|
21 |
De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder. Am J Hum Genet. 2019 Apr 4;104(4):709-720. doi: 10.1016/j.ajhg.2019.02.006. Epub 2019 Mar 21.
|
22 |
Evidence for an Association Between Hearing Impairment and Disrupted Sleep: Scoping Review.Am J Audiol. 2019 Dec 16;28(4):1015-1024. doi: 10.1044/2019_AJA-19-0026. Epub 2019 Oct 17.
|
23 |
Role of estrogen related receptor beta (ESRRB) in DFN35B hearing impairment and dental decay.BMC Med Genet. 2014 Jul 15;15:81. doi: 10.1186/1471-2350-15-81.
|
24 |
The impact of permanent early-onset unilateral hearing impairment in children - A systematic review.Int J Pediatr Otorhinolaryngol. 2019 May;120:173-183. doi: 10.1016/j.ijporl.2019.02.029. Epub 2019 Feb 19.
|
25 |
Molecular pathogenesis of Fanconi anemia: recent progress.Blood. 2006 Jun 1;107(11):4223-33. doi: 10.1182/blood-2005-10-4240. Epub 2006 Feb 21.
|
26 |
CATCHing putative causative variants in consanguineous families.BMC Bioinformatics. 2015 Sep 28;16:310. doi: 10.1186/s12859-015-0727-5.
|
27 |
The relationship between the GJB3 c.538C>T variant and hearing phenotype in the Chinese population.Int J Pediatr Otorhinolaryngol. 2017 Nov;102:67-70. doi: 10.1016/j.ijporl.2017.09.001. Epub 2017 Sep 7.
|
28 |
Government-funded universal newborn hearing screening and genetic analyses of deafness predisposing genes in Taiwan.Int J Pediatr Otorhinolaryngol. 2015 Apr;79(4):584-90. doi: 10.1016/j.ijporl.2015.01.033. Epub 2015 Feb 7.
|
29 |
Neurobehavioral phenotypes of neuronopathic mucopolysaccharidoses.Ital J Pediatr. 2018 Nov 16;44(Suppl 2):121. doi: 10.1186/s13052-018-0561-2.
|
30 |
Expanding the spectrum of HEXA mutations in Indian patients with Tay-Sachs disease.Mol Genet Metab Rep. 2014 Sep 29;1:425-430. doi: 10.1016/j.ymgmr.2014.09.004. eCollection 2014.
|
31 |
Peroxisomal bifunctional protein deficiency revisited: resolution of its true enzymatic and molecular basis.Am J Hum Genet. 1999 Jan;64(1):99-107. doi: 10.1086/302180.
|
32 |
Molecular etiology of hearing impairment associated with nonsyndromic enlarged vestibular aqueduct in East China.Am J Med Genet A. 2013 Sep;161A(9):2226-33. doi: 10.1002/ajmg.a.36068. Epub 2013 Aug 5.
|
33 |
A novel KCNQ1 nonsense variant in the isoform-specific first exon causes both jervell and Lange-Nielsen syndrome 1 and long QT syndrome 1: a case report.BMC Med Genet. 2017 Jun 8;18(1):66. doi: 10.1186/s12881-017-0430-7.
|
34 |
trans-dominant inhibition of connexin-43 by mutant connexin-26: implications for dominant connexin disorders affecting epidermal differentiation.J Cell Sci. 2001 Jun;114(Pt 11):2105-13. doi: 10.1242/jcs.114.11.2105.
|
35 |
Neuroradiological findings expand the phenotype of OPA1-related mitochondrial dysfunction.J Neurol Sci. 2015 Feb 15;349(1-2):154-60. doi: 10.1016/j.jns.2015.01.008. Epub 2015 Jan 13.
|
36 |
cGMP-Prkg1 signaling and Pde5 inhibition shelter cochlear hair cells and hearing function.Nat Med. 2012 Jan 22;18(2):252-9. doi: 10.1038/nm.2634.
|
37 |
GRM7 variants confer susceptibility to age-related hearing impairment.Hum Mol Genet. 2009 Feb 15;18(4):785-96. doi: 10.1093/hmg/ddn402. Epub 2008 Dec 1.
|
38 |
Spinocerebellar ataxia type 14 caused by a nonsense mutation in the PRKCG gene.Mol Cell Neurosci. 2019 Jul;98:46-53. doi: 10.1016/j.mcn.2019.05.005. Epub 2019 May 31.
|
39 |
RPGR mutation associated with retinitis pigmentosa, impaired hearing, and sinorespiratory infections. J Med Genet. 2003 Aug;40(8):609-15. doi: 10.1136/jmg.40.8.609.
|
40 |
Syndromic true hermaphroditism due to an R-spondin1 (RSPO1) homozygous mutation.Hum Mutat. 2008 Feb;29(2):220-6. doi: 10.1002/humu.20665.
|
41 |
Autosomal-Recessive Hearing Impairment Due to Rare Missense Variants within S1PR2. Am J Hum Genet. 2016 Feb 4;98(2):331-8. doi: 10.1016/j.ajhg.2015.12.004. Epub 2016 Jan 21.
|
42 |
Functional Testing of SLC26A4 Variants-Clinical and Molecular Analysis of a Cohort with Enlarged Vestibular Aqueduct from Austria.Int J Mol Sci. 2018 Jan 10;19(1):209. doi: 10.3390/ijms19010209.
|
43 |
Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin. Am J Hum Genet. 2012 Jan 13;90(1):61-8. doi: 10.1016/j.ajhg.2011.11.030.
|
44 |
Cisplatin Toxicology: The Role of Pro-inflammatory Cytokines and GABA Transporters in Cochlear Spiral Ganglion.Curr Pharm Des. 2019;25(45):4820-4826. doi: 10.2174/1381612825666191106143743.
|
45 |
A long-term high-fat diet increases oxidative stress, mitochondrial damage and apoptosis in the inner ear of D-galactose-induced aging rats.Hear Res. 2012 May;287(1-2):15-24. doi: 10.1016/j.heares.2012.04.012. Epub 2012 Apr 21.
|
46 |
Genetics of Usher Syndrome: New Insights From a Meta-analysis.Otol Neurotol. 2019 Jan;40(1):121-129. doi: 10.1097/MAO.0000000000002054.
|
47 |
Molecular genetics of hearing impairment due to mutations in gap junction genes encoding beta connexins.Hum Mutat. 2000 Sep;16(3):190-202. doi: 10.1002/1098-1004(200009)16:3<190::AID-HUMU2>3.0.CO;2-I.
|
48 |
A common frameshift mutation and other variants in GJB4 (connexin 30.3): Analysis of hearing impairment families.Hum Mutat. 2002 Apr;19(4):458. doi: 10.1002/humu.9023.
|
49 |
Clinical presentation and the presence of hearing impairment in branchio-oculo-facial syndrome: a new mutation in the TFAP2A gene.Ann Otol Rhinol Laryngol. 2010 Dec;119(12):806-14. doi: 10.1177/000348941011901204.
|
50 |
Genomic Landscape and Mutational Signatures of Deafness-Associated Genes.Am J Hum Genet. 2018 Oct 4;103(4):484-497. doi: 10.1016/j.ajhg.2018.08.006. Epub 2018 Sep 20.
|
51 |
Pathogenetics of the human SLC26 transporters.Curr Med Chem. 2005;12(4):385-96. doi: 10.2174/0929867053363144.
|
52 |
Mutations in SLC29A3, encoding an equilibrative nucleoside transporter ENT3, cause a familial histiocytosis syndrome (Faisalabad histiocytosis) and familial Rosai-Dorfman disease.PLoS Genet. 2010 Feb 5;6(2):e1000833. doi: 10.1371/journal.pgen.1000833.
|
53 |
Solute Carrier Family 26 Member a2 (slc26a2) Regulates Otic Development and Hair Cell Survival in Zebrafish.PLoS One. 2015 Sep 16;10(9):e0136832. doi: 10.1371/journal.pone.0136832. eCollection 2015.
|
54 |
Hearing impairment locus heterogeneity and identification of PLS1 as a new autosomal dominant gene in Hungarian Roma. Eur J Hum Genet. 2019 Jun;27(6):869-878. doi: 10.1038/s41431-019-0372-y. Epub 2019 Mar 14.
|
55 |
Clinical aspects of an autosomal dominantly inherited hearing impairment linked to the DFNA60 locus on chromosome 2q23.1-2q23.3.Hear Res. 2013 Jun;300:10-7. doi: 10.1016/j.heares.2013.03.007. Epub 2013 Mar 26.
|
56 |
Identification of CRYM as a candidate responsible for nonsyndromic deafness, through cDNA microarray analysis of human cochlear and vestibular tissues. Am J Hum Genet. 2003 Jan;72(1):73-82. doi: 10.1086/345398. Epub 2002 Dec 6.
|
57 |
Exome sequencing revealed a novel biallelic deletion in the DCAF17 gene underlying Woodhouse Sakati syndrome.Clin Genet. 2016 Sep;90(3):263-9. doi: 10.1111/cge.12700. Epub 2016 Jan 19.
|
58 |
A novel mutation in the Espin gene causes autosomal recessive nonsyndromic hearing loss but no apparent vestibular dysfunction in a Moroccan family.Am J Med Genet A. 2008 Dec 1;146A(23):3086-9. doi: 10.1002/ajmg.a.32525.
|
59 |
Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
|
60 |
Novel Mutations in KCNQ4, LHFPL5 and COCH Genes in Iranian Families with Hearing Impairment.Arch Iran Med. 2019 Apr 1;22(4):189-197.
|
61 |
A variant in LMX1A causes autosomal recessive severe-to-profound hearing impairment.Hum Genet. 2018 Jul;137(6-7):471-478. doi: 10.1007/s00439-018-1899-7. Epub 2018 Jul 3.
|
62 |
Targeted disruption of the Mn1 oncogene results in severe defects in development of membranous bones of the cranial skeleton.Mol Cell Biol. 2005 May;25(10):4229-36. doi: 10.1128/MCB.25.10.4229-4236.2005.
|
63 |
Sh3pxd2b mice are a model for craniofacial dysmorphology and otitis media.PLoS One. 2011;6(7):e22622. doi: 10.1371/journal.pone.0022622. Epub 2011 Jul 27.
|
64 |
Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
|
65 |
Genetic analysis of genes related to tight junction function in the Korean population with non-syndromic hearing loss.PLoS One. 2014 Apr 21;9(4):e95646. doi: 10.1371/journal.pone.0095646. eCollection 2014.
|
66 |
A mutation in CABP2, expressed in cochlear hair cells, causes autosomal-recessive hearing impairment. Am J Hum Genet. 2012 Oct 5;91(4):636-45. doi: 10.1016/j.ajhg.2012.08.018. Epub 2012 Sep 13.
|
67 |
Mutations of the gene encoding otogelin are a cause of autosomal-recessive nonsyndromic moderate hearing impairment. Am J Hum Genet. 2012 Nov 2;91(5):883-9. doi: 10.1016/j.ajhg.2012.09.012.
|
68 |
Homozygous 2p11.2 deletion supports the implication of ELMOD3 in hearing loss and reveals the potential association of CAPG with ASD/ID etiology.J Appl Genet. 2019 Feb;60(1):49-56. doi: 10.1007/s13353-018-0472-3. Epub 2018 Oct 4.
|
69 |
Exome sequencing extends the phenotypic spectrum for ABHD12 mutations: from syndromic to nonsyndromic retinal degeneration.Ophthalmology. 2014 Aug;121(8):1620-7. doi: 10.1016/j.ophtha.2014.02.008. Epub 2014 Mar 31.
|
70 |
Subjective hearing impairment after subarachnoid haemorrhage: Prevalence and risk factors.J Neurol Sci. 2017 Jan 15;372:184-186. doi: 10.1016/j.jns.2016.11.062. Epub 2016 Nov 24.
|
71 |
Midazolam reverses salicylate-induced changes in brain-derived neurotrophic factor and arg3.1 expression: implications for tinnitus perception and auditory plasticity.Mol Pharmacol. 2008 Sep;74(3):595-604. doi: 10.1124/mol.108.046375. Epub 2008 Jun 4.
|
72 |
De novo and inherited loss-of-function variants of ATP2B2 are associated with rapidly progressive hearing impairment. Hum Genet. 2019 Jan;138(1):61-72. doi: 10.1007/s00439-018-1965-1. Epub 2018 Dec 8.
|
73 |
Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness. Nat Genet. 1999 Jan;21(1):84-90. doi: 10.1038/5022.
|
74 |
Linkage of infantile Bartter syndrome with sensorineural deafness to chromosome 1p.Am J Hum Genet. 1998 Feb;62(2):355-61. doi: 10.1086/301708.
|
75 |
A mutation in CCDC50, a gene encoding an effector of epidermal growth factor-mediated cell signaling, causes progressive hearing loss. Am J Hum Genet. 2007 Jun;80(6):1076-89. doi: 10.1086/518311. Epub 2007 Apr 24.
|
76 |
A Novel Locus Harbouring a Functional CD164 Nonsense Mutation Identified in a Large Danish Family with Nonsyndromic Hearing Impairment. PLoS Genet. 2015 Jul 21;11(7):e1005386. doi: 10.1371/journal.pgen.1005386. eCollection 2015 Jul.
|
77 |
Old gene, new phenotype: splice-altering variants in CEACAM16 cause recessive non-syndromic hearing impairment. J Med Genet. 2018 Aug;55(8):555-560. doi: 10.1136/jmedgenet-2018-105349. Epub 2018 Apr 27.
|
78 |
Screening of CHCHD10 in a French cohort confirms the involvement of this gene in frontotemporal dementia with amyotrophic lateral sclerosis patients.Neurobiol Aging. 2014 Dec;35(12):2884.e1-2884.e4. doi: 10.1016/j.neurobiolaging.2014.07.022. Epub 2014 Jul 24.
|
79 |
An intronic mutation in Chd7 creates a cryptic splice site, causing aberrant splicing in a mouse model of CHARGE syndrome.Sci Rep. 2018 Apr 3;8(1):5482. doi: 10.1038/s41598-018-23856-8.
|
80 |
Dysregulated brain creatine kinase is associated with hearing impairment in mouse models of Huntington disease.J Clin Invest. 2011 Apr;121(4):1519-23. doi: 10.1172/JCI43220. Epub 2011 Mar 14.
|
81 |
Novel CLDN14 mutations in Pakistani families with autosomal recessive non-syndromic hearing loss.Am J Med Genet A. 2012 Feb;158A(2):315-21. doi: 10.1002/ajmg.a.34407. Epub 2012 Jan 13.
|
82 |
Hearing impairment in Stickler syndrome: a systematic review.Orphanet J Rare Dis. 2012 Oct 30;7:84. doi: 10.1186/1750-1172-7-84.
|
83 |
The clinical spectrum of type IV collagen mutations.Hum Mutat. 1997;9(6):477-99. doi: 10.1002/(SICI)1098-1004(1997)9:6<477::AID-HUMU1>3.0.CO;2-#.
|
84 |
Mutation analysis of COL9A3, a gene highly expressed in the cochlea, in hearing loss patients.Auris Nasus Larynx. 2005 Jun;32(2):113-7. doi: 10.1016/j.anl.2005.01.011. Epub 2005 Mar 24.
|
85 |
Mitochondrial COI/tRNASer(UCN) G7444A mutation may be associated with aminoglycoside-induced and non-syndromic hearing impairment.Mol Med Rep. 2015 Dec;12(6):8176-8. doi: 10.3892/mmr.2015.4484. Epub 2015 Oct 26.
|
86 |
Novel loss-of-function variants in DIAPH1 associated with syndromic microcephaly, blindness, and early onset seizures.Am J Med Genet A. 2016 Feb;170A(2):435-440. doi: 10.1002/ajmg.a.37422. Epub 2015 Oct 13.
|
87 |
Assignment of dentin sialophosphoprotein (DSPP) to the critical DGI2 locus on human chromosome 4 band q21.3 by in situ hybridization.Cytogenet Cell Genet. 1997;79(1-2):121-2. doi: 10.1159/000134697.
|
88 |
EHD4 and CDH23 are interacting partners in cochlear hair cells.J Biol Chem. 2009 Jul 24;284(30):20121-9. doi: 10.1074/jbc.M109.025668. Epub 2009 Jun 1.
|
89 |
Extended high-frequency hearing enhances speech perception in noise.Proc Natl Acad Sci U S A. 2019 Nov 19;116(47):23753-23759. doi: 10.1073/pnas.1903315116. Epub 2019 Nov 4.
|
90 |
A high-fat diet and NAD(+) activate Sirt1 to rescue premature aging in cockayne syndrome. Cell Metab. 2014 Nov 4;20(5):840-855. doi: 10.1016/j.cmet.2014.10.005. Epub 2014 Nov 4.
|
91 |
Identification of three novel mutations in human EYA1 protein associated with branchio-oto-renal syndrome.Hum Mutat. 1998;11(6):443-9. doi: 10.1002/(SICI)1098-1004(1998)11:6<443::AID-HUMU4>3.0.CO;2-S.
|
92 |
Identification of a novel missense eya4 mutation causing autosomal dominant nonsyndromic hearing loss in a chinese family.Cell Mol Biol (Noisy-le-grand). 2019 Mar 31;65(3):84-88.
|
93 |
Potential oncogene product related to growth factors.Nature. 1987 Apr 30-May 6;326(6116):833. doi: 10.1038/326833a0.
|
94 |
Unusual multisystemic involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of myofibrillar myopathies.Orphanet J Rare Dis. 2014 Aug 1;9:121. doi: 10.1186/s13023-014-0121-9.
|
95 |
Genotype-phenotype relationship in three cases with overlapping 19p13.12 microdeletions.Eur J Hum Genet. 2010 Dec;18(12):1302-9. doi: 10.1038/ejhg.2010.115. Epub 2010 Jul 21.
|
96 |
New gene for autosomal recessive non-syndromic hearing loss maps to either chromosome 3q or 19p.Am J Med Genet. 1997 Sep 5;71(4):467-71.
|
97 |
Homozygosity mapping reveals mutations of GRXCR1 as a cause of autosomal-recessive nonsyndromic hearing impairment. Am J Hum Genet. 2010 Feb 12;86(2):138-47. doi: 10.1016/j.ajhg.2009.12.017. Epub 2010 Feb 4.
|
98 |
Genome-wide association meta-analysis identifies five novel loci for age-related hearing impairment.Sci Rep. 2019 Oct 23;9(1):15192. doi: 10.1038/s41598-019-51630-x.
|
99 |
Possible mechanisms for sensorineural hearing loss and deafness in patients with propionic acidemia.Orphanet J Rare Dis. 2017 Feb 13;12(1):30. doi: 10.1186/s13023-017-0585-5.
|
100 |
The c.242G>A mutation in LRTOMT gene is responsible for a high prevalence of deafness in the Moroccan population.Mol Biol Rep. 2012 Dec;39(12):11011-6. doi: 10.1007/s11033-012-2003-3. Epub 2012 Oct 8.
|
101 |
MARVELD2 (DFNB49) mutations in the hearing impaired Central European Roma population--prevalence, clinical impact and the common origin.PLoS One. 2015 Apr 17;10(4):e0124232. doi: 10.1371/journal.pone.0124232. eCollection 2015.
|
102 |
Methionine sulfoxide reductase B3 deficiency causes hearing loss due to stereocilia degeneration and apoptotic cell death in cochlear hair cells.Hum Mol Genet. 2014 Mar 15;23(6):1591-601. doi: 10.1093/hmg/ddt549. Epub 2013 Nov 3.
|
103 |
Lack of a modulative factor in locus 8p23 in a Finnish family with nonsyndromic sensorineural hearing loss associated with the 1555A>G mitochondrial DNA mutation.Eur J Hum Genet. 2003 Sep;11(9):652-8. doi: 10.1038/sj.ejhg.5201017.
|
104 |
Variable phenotypic expression and onset in MYH14 distal hereditary motor neuropathy phenotype in a large, multigenerational North American family.Muscle Nerve. 2017 Aug;56(2):341-345. doi: 10.1002/mus.25491. Epub 2017 Feb 20.
|
105 |
Genotype-phenotype correlation analysis of MYO15A variants in autosomal recessive non-syndromic hearing loss.BMC Med Genet. 2019 Apr 5;20(1):60. doi: 10.1186/s12881-019-0790-2.
|
106 |
Identification of a novel homozygous mutation in MYO3A in a Chinese family with DFNB30 non-syndromic hearing impairment.Int J Pediatr Otorhinolaryngol. 2016 May;84:43-7. doi: 10.1016/j.ijporl.2016.02.036. Epub 2016 Mar 5.
|
107 |
The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands.Eur J Hum Genet. 2017 Feb;25(3):308-314. doi: 10.1038/ejhg.2016.182. Epub 2016 Dec 21.
|
108 |
The ND4 G11696A mutation may influence the phenotypic manifestation of the deafness-associated 12S rRNA A1555G mutation in a four-generation Chinese family.Biochem Biophys Res Commun. 2007 Oct 26;362(3):670-6. doi: 10.1016/j.bbrc.2007.08.034. Epub 2007 Aug 15.
|
109 |
Novel OTOA mutations cause autosomal recessive non-syndromic hearing impairment in Pakistani families.Clin Genet. 2013 Sep;84(3):294-6. doi: 10.1111/cge.12047. Epub 2012 Nov 23.
|
110 |
Mutations in OTOF, CLDN14 & SLC26A4 genes as major causes of hearing impairment in Dhadkai village, Jammu & Kashmir, India.Indian J Med Res. 2017 Oct;146(4):489-497. doi: 10.4103/ijmr.IJMR_635_15.
|
111 |
Truncating mutation of the DFNB59 gene causes cochlear hearing impairment and central vestibular dysfunction.Hum Mutat. 2007 Jun;28(6):571-7. doi: 10.1002/humu.20478.
|
112 |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.Brain. 2016 Nov 1;139(11):2844-2854. doi: 10.1093/brain/aww221.
|
113 |
GG: a domain involved in phage LTF apparatus and implicated in human MEB and non-syndromic hearing loss diseases.FEBS Lett. 2006 Jan 23;580(2):581-4. doi: 10.1016/j.febslet.2005.12.076. Epub 2006 Jan 3.
|
114 |
Phenotype and genotype analysis of a Chinese family with prelingual X-linked hereditary hearing impairment.Chin Med J (Engl). 2009 Apr 5;122(7):830-3.
|
115 |
Mutations in PRPS1 causing syndromic or nonsyndromic hearing impairment: intrafamilial phenotypic variation complicates genetic counseling.Pediatr Res. 2015 Jul;78(1):97-102. doi: 10.1038/pr.2015.56. Epub 2015 Mar 18.
|
116 |
Mutations of the RDX gene cause nonsyndromic hearing loss at the DFNB24 locus. Hum Mutat. 2007 May;28(5):417-23. doi: 10.1002/humu.20469.
|
117 |
Decreased postural control in people with moderate hearing loss.Medicine (Baltimore). 2018 Apr;97(14):e0244. doi: 10.1097/MD.0000000000010244.
|
118 |
IVIC syndrome is caused by a c.2607delA mutation in the SALL4 locus. Am J Med Genet A. 2007 Feb 15;143(4):326-32. doi: 10.1002/ajmg.a.31603.
|
119 |
A novel serpin-like protein, B-43, exists in both neurons and astrocytes: an immunohistochemical study in the parietal region of the bovine brain.Neurosci Lett. 1995 Nov 17;200(2):125-8. doi: 10.1016/0304-3940(95)12095-l.
|
120 |
Human sequences homologous to the gene for the cochlear protein Ocp-II do not map to currently known non-syndromic hearing loss loci.Ann Hum Genet. 1996 Sep;60(5):385-9. doi: 10.1111/j.1469-1809.1996.tb00436.x.
|
121 |
Molecular and functional characterization of SLC26A11, a sodium-independent sulfate transporter from high endothelial venules.FASEB J. 2003 May;17(8):890-2. doi: 10.1096/fj.02-0787fje. Epub 2003 Mar 5.
|
122 |
A novel frameshift mutation of SMPX causes a rare form of X-linked nonsyndromic hearing loss in a Chinese family.PLoS One. 2017 May 25;12(5):e0178384. doi: 10.1371/journal.pone.0178384. eCollection 2017.
|
123 |
AP180 promotes release site clearance and clathrin-dependent vesicle reformation in mouse cochlear inner hair cells.J Cell Sci. 2020 Jan 22;133(2):jcs236737. doi: 10.1242/jcs.236737.
|
124 |
Microduplication of chromosome Xq25 encompassing STAG2 gene in a boy with intellectual disability.Eur J Med Genet. 2015 Feb;58(2):116-21. doi: 10.1016/j.ejmg.2014.10.002. Epub 2014 Oct 24.
|
125 |
Frequency and clinical features of hearing loss caused by STRC deletions.Sci Rep. 2019 Mar 13;9(1):4408. doi: 10.1038/s41598-019-40586-7.
|
126 |
A dominant mutation in the stereocilia-expressing gene TBC1D24 is a probable cause for nonsyndromic hearing impairment. Hum Mutat. 2014 Jul;35(7):814-8. doi: 10.1002/humu.22558. Epub 2014 May 6.
|
127 |
Genetic heterogeneity of congenital hearing impairment in Algerians from the Ghardaa province.Int J Pediatr Otorhinolaryngol. 2018 Sep;112:1-5. doi: 10.1016/j.ijporl.2018.06.012. Epub 2018 Jun 12.
|
128 |
Hereditary hearing loss: a 96 gene targeted sequencing protocol reveals novel alleles in a series of Italian and Qatari patients.Gene. 2014 Jun 1;542(2):209-16. doi: 10.1016/j.gene.2014.03.033. Epub 2014 Mar 20.
|
129 |
Targeted capture and next-generation sequencing identifies C9orf75, encoding taperin, as the mutated gene in nonsyndromic deafness DFNB79.Am J Hum Genet. 2010 Mar 12;86(3):378-88. doi: 10.1016/j.ajhg.2010.01.030. Epub 2010 Feb 18.
|
130 |
Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability. Brain. 2020 Jan 1;143(1):112-130. doi: 10.1093/brain/awz374.
|
131 |
Broadening the phenotype of DFNB28: Mutations in TRIOBP are associated with moderate, stable hereditary hearing impairment.Hear Res. 2017 Apr;347:56-62. doi: 10.1016/j.heares.2016.12.017. Epub 2017 Jan 12.
|
132 |
Defect in the gene encoding the EAR/EPTP domain-containing protein TSPEAR causes DFNB98 profound deafness. Hum Mol Genet. 2012 Sep 1;21(17):3835-44. doi: 10.1093/hmg/dds212. Epub 2012 Jun 7.
|
133 |
Otological aspects and surgical outcome in a consanguineous family with a novel ANKH gene mutation.Int J Pediatr Otorhinolaryngol. 2013 Jul;77(7):1152-7. doi: 10.1016/j.ijporl.2013.04.028. Epub 2013 May 31.
|
134 |
Co segregation of the m.1555A>G mutation in the MT-RNR1 gene and mutations in MT-ATP6 gene in a family with dilated mitochondrial cardiomyopathy and hearing loss: A whole mitochondrial genome screening.Biochem Biophys Res Commun. 2017 Feb 26;484(1):71-78. doi: 10.1016/j.bbrc.2017.01.070. Epub 2017 Jan 16.
|
135 |
Three novel COL4A4 mutations resulting in stop codons and their clinical effects in autosomal recessive Alport syndrome.Hum Mutat. 2002 Oct;20(4):321-2. doi: 10.1002/humu.9065.
|
136 |
The European GWAS-identified risk SNP rs457717 within IQGAP2 is not associated with age-related hearing impairment in Han male Chinese population.Eur Arch Otorhinolaryngol. 2016 Jul;273(7):1677-87. doi: 10.1007/s00405-015-3711-9. Epub 2015 Jul 18.
|
137 |
Human cytomegalovirus (HCMV) and hearing impairment: infection of fibroblast cells with HCMV induces chromosome breaks at 1q23.3, between loci DFNA7 and DFNA49 -- both involved in dominantly inherited, sensorineural, hearing impairment.Mutat Res. 2008 Jan 1;637(1-2):56-65. doi: 10.1016/j.mrfmmm.2007.07.009. Epub 2007 Jul 25.
|
138 |
Waardenburg syndrome type II in a Chinese patient caused by a novel nonsense mutation in the SOX10 gene.Int J Pediatr Otorhinolaryngol. 2016 Jun;85:56-61. doi: 10.1016/j.ijporl.2016.03.043. Epub 2016 Apr 7.
|
139 |
Charcot-Marie-Tooth type 1A disease caused by a novel Ser112Arg mutation in the PMP22 gene, coexisting with a slowly progressive hearing impairment.J Appl Genet. 2010;51(2):203-9. doi: 10.1007/BF03195729.
|
140 |
Hearing impairment and renal failure associated with RMND1 mutations.Am J Med Genet A. 2016 Jan;170A(1):142-7. doi: 10.1002/ajmg.a.37399. Epub 2015 Sep 23.
|
141 |
SOX10 mutations mimic isolated hearing loss.Clin Genet. 2015 Oct;88(4):352-9. doi: 10.1111/cge.12506. Epub 2014 Nov 6.
|
142 |
Decreased Expression of TRPV4 Channels in HEI-OC1 Cells Induced by High Glucose Is Associated with Hearing Impairment.Yonsei Med J. 2018 Nov;59(9):1131-1137. doi: 10.3349/ymj.2018.59.9.1131.
|
|
|
|
|
|
|