Detalles de la búsqueda
1.
A non-coding variant in 5' untranslated region drove up-regulation of pseudo-kinase EPHA10 and caused non-syndromic hearing loss in humans.
Hum Mol Genet
; 32(5): 720-731, 2023 02 19.
Artículo
en Inglés
| MEDLINE | ID: mdl-36048850
2.
PAX3 mutation suppress otic progenitors proliferation and induce apoptosis by inhibiting WNT1/ß-catenin signaling pathway in WS1 patient iPSC-derived inner ear organoids.
Biochem Biophys Res Commun
; 698: 149510, 2024 Feb 26.
Artículo
en Inglés
| MEDLINE | ID: mdl-38278051
3.
A nonsense TMEM43 variant leads to disruption of connexin-linked function and autosomal dominant auditory neuropathy spectrum disorder.
Proc Natl Acad Sci U S A
; 118(22)2021 06 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-34050020
4.
Clinical characteristics and surgical strategy of glomus tympanicum tumors. / é¼å®¤ä½ç¤ç临åºç¹å¾åææ¯çç¥.
Zhong Nan Da Xue Xue Bao Yi Xue Ban
; 48(3): 397-403, 2023 Mar 28.
Artículo
en Inglés, Zh
| MEDLINE | ID: mdl-37164923
5.
Genetic insights, disease mechanisms, and biological therapeutics for Waardenburg syndrome.
Gene Ther
; 29(9): 479-497, 2022 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-33633356
6.
Establishment of a risk index for early complications after trans-canal endoscopic ear surgery.
Am J Otolaryngol
; 43(3): 103429, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-35427935
7.
Otological manifestations in branchiootorenal spectrum disorder: A systematic review and meta-analysis.
Clin Genet
; 100(1): 3-13, 2021 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-33624842
8.
Identification and functional analysis of a novel missense mutation of PAX3 associated with Waardenburg syndrome type I.
Eur Arch Otorhinolaryngol
; 278(8): 2807-2815, 2021 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-32940795
9.
Next-generation sequencing-based mutation analysis of genes associated with enlarged vestibular aqueduct in Chinese families.
Eur Arch Otorhinolaryngol
; 277(12): 3331-3339, 2020 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-32447495
10.
Extrusion pump ABCC1 was first linked with nonsyndromic hearing loss in humans by stepwise genetic analysis.
Genet Med
; 21(12): 2744-2754, 2019 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-31273342
11.
ELMOD3, a novel causative gene, associated with human autosomal dominant nonsyndromic and progressive hearing loss.
Hum Genet
; 137(4): 329-342, 2018 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-29713870
12.
Wnt signaling pathway involvement in genotypic and phenotypic variations in Waardenburg syndrome type 2 with MITF mutations.
J Hum Genet
; 63(5): 639-646, 2018 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-29531335
13.
A novel mutation in the SMPX gene associated with X-linked nonsyndromic sensorineural hearing loss in a Chinese family.
J Hum Genet
; 63(6): 723-730, 2018 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-29559740
14.
Multivariate analysis of prognostic factors for idiopathic sudden sensorineural hearing loss treated with adjuvant hyperbaric oxygen therapy.
Eur Arch Otorhinolaryngol
; 275(1): 47-51, 2018 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-29071444
15.
[Mechanism for synergistic effect of IRF4 and MITF on tyrosinase promoter].
Zhong Nan Da Xue Xue Bao Yi Xue Ban
; 43(5): 461-468, 2018 May 28.
Artículo
en Zh
| MEDLINE | ID: mdl-29886459
16.
Functional analysis of a SOX10 gene mutation associated with Waardenburg syndrome II.
Biochem Biophys Res Commun
; 493(1): 258-262, 2017 11 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-28893539
17.
Functional analysis of a nonstop mutation in MITF gene identified in a patient with Waardenburg syndrome type 2.
J Hum Genet
; 62(7): 703-709, 2017 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-28356565
18.
[Study of gene mutation and pathogenetic mechanism for a family with Waardenburg syndrome].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 34(4): 471-475, 2017 Aug 10.
Artículo
en Zh
| MEDLINE | ID: mdl-28777840
19.
Exome sequencing identifies a novel CEACAM16 mutation associated with autosomal dominant nonsyndromic hearing loss DFNA4B in a Chinese family.
J Hum Genet
; 60(3): 119-126, 2015 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-25589040
20.
Modeling of pigmentation disorders associated with MITF mutation in Waardenburg syndrome revealed an impaired melanogenesis pathway in iPS-derived melanocytes.
Pigment Cell Melanoma Res
; 37(1): 21-35, 2024 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-37559350