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1.
Toward the Pathogenicity of the SLC26A4 p.C565Y Variant Using a Genetically Driven Mouse Model.
Int J Mol Sci
; 22(6)2021 Mar 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-33801843
2.
Generation and pathological characterization of a transgenic mouse model carrying a missense PJVK mutation.
Biochem Biophys Res Commun
; 532(4): 675-681, 2020 11 19.
Artículo
en Inglés
| MEDLINE | ID: mdl-32917362
3.
Generation of induced pluripotent stem cells (IBMSi027-A) from a patient with hearing loss carrying WFS1 c.2051C > T (p.Ala684Val) variant.
Stem Cell Res
; 69: 103068, 2023 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-36933359
4.
Simulation-predicted and -explained inheritance model of pathogenicity confirmed by transgenic mice models.
Comput Struct Biotechnol J
; 21: 5698-5711, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-38074473
5.
Gene therapy with a synthetic adeno-associated viral vector improves audiovestibular phenotypes in Pjvk-mutant mice.
JCI Insight
; 7(20)2022 10 24.
Artículo
en Inglés
| MEDLINE | ID: mdl-36278489
6.
Generation of induced pluripotent stem cells from a patient with hearing loss carrying OPA1 c.1468T>C (p.Cys490Arg) variant.
Stem Cell Res
; 64: 102903, 2022 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-36075118
7.
Low intensity ultrasound enhances cisplatin uptake in vitro by cochlear hair cells.
JASA Express Lett
; 1(7): 072001, 2021 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-36154652
8.
Insights into phenotypic differences between humans and mice with p.T721M and other C-terminal variants of the SLC26A4 gene.
Sci Rep
; 11(1): 20983, 2021 10 25.
Artículo
en Inglés
| MEDLINE | ID: mdl-34697379
9.
Phenotypic analyses and mutation screening of the SLC26A4 and FOXI1 genes in 101 Taiwanese families with bilateral nonsyndromic enlarged vestibular aqueduct (DFNB4) or Pendred syndrome.
Audiol Neurootol
; 15(1): 57-66, 2010.
Artículo
en Inglés
| MEDLINE | ID: mdl-19648736
10.
Mutations in the OTOF gene in Taiwanese patients with auditory neuropathy.
Audiol Neurootol
; 15(6): 364-74, 2010.
Artículo
en Inglés
| MEDLINE | ID: mdl-20224275
11.
Establishment of an induced pluripotent stem cell (iPSC) line from a 7-year-old male patient with profound hearing loss carrying c.235delC in GJB2 gene.
Stem Cell Res
; 45: 101795, 2020 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-32388442
12.
Efficient in Utero Gene Transfer to the Mammalian Inner Ears by the Synthetic Adeno-Associated Viral Vector Anc80L65.
Mol Ther Methods Clin Dev
; 18: 493-500, 2020 Sep 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-32775487
13.
Targeted Next-Generation Sequencing Facilitates Genetic Diagnosis and Provides Novel Pathogenetic Insights into Deafness with Enlarged Vestibular Aqueduct.
J Mol Diagn
; 21(1): 138-148, 2019 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-30268946
14.
Consumption of betel quid contributes to sensorineural hearing impairment through arecoline-induced oxidative stress.
Sci Rep
; 9(1): 14554, 2019 10 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-31601870
15.
Generation of a human iPS cell line (CGMH.SLC26A4919-2) from a Pendred syndrome patient carrying SLC26A4 c.919-2A>G splice-site mutation.
Stem Cell Res
; 40: 101524, 2019 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-31415960
16.
CXCL12/CXCR4 promotes laryngeal and hypopharyngeal squamous cell carcinoma metastasis through MMP-13-dependent invasion via the ERK1/2/AP-1 pathway.
Carcinogenesis
; 29(8): 1519-27, 2008 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-18487224
17.
Prospective mutation screening of three common deafness genes in a large Taiwanese Cohort with idiopathic bilateral sensorineural hearing impairment reveals a difference in the results between families from hospitals and those from rehabilitation facilities.
Audiol Neurootol
; 13(3): 172-81, 2008.
Artículo
en Inglés
| MEDLINE | ID: mdl-18075246
18.
Generation of induced pluripotent stem cells from a patient with hearing loss carrying GJB2 p.V37I mutation.
Stem Cell Res
; 33: 51-55, 2018 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-30316039
19.
A novel missense variant in the nuclear localization signal of POU4F3 causes autosomal dominant non-syndromic hearing loss.
Sci Rep
; 7(1): 7551, 2017 08 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-28790396
20.
Contribution of adiponectin and its type 1 receptor to age-related hearing impairment.
Neurobiol Aging
; 36(6): 2085-93, 2015 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-25911279