Detalhe da pesquisa
1.
Genome-wide generation and systematic phenotyping of knockout mice reveals new roles for many genes.
Cell
; 154(2): 452-64, 2013 Jul 18.
Artigo
Inglês
| MEDLINE | ID: mdl-23870131
2.
Reversal of an existing hearing loss by gene activation in Spns2 mutant mice.
Proc Natl Acad Sci U S A
; 120(34): e2307355120, 2023 08 22.
Artigo
Inglês
| MEDLINE | ID: mdl-37552762
3.
Mutations in MINAR2 encoding membrane integral NOTCH2-associated receptor 2 cause deafness in humans and mice.
Proc Natl Acad Sci U S A
; 119(26): e2204084119, 2022 06 28.
Artigo
Inglês
| MEDLINE | ID: mdl-35727972
4.
Identification and characterisation of spontaneous mutations causing deafness from a targeted knockout programme.
BMC Biol
; 20(1): 67, 2022 03 17.
Artigo
Inglês
| MEDLINE | ID: mdl-35296311
5.
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.
PLoS Biol
; 17(4): e3000194, 2019 04.
Artigo
Inglês
| MEDLINE | ID: mdl-30973865
6.
ILDR1 null mice, a model of human deafness DFNB42, show structural aberrations of tricellular tight junctions and degeneration of auditory hair cells.
Hum Mol Genet
; 24(3): 609-24, 2015 Feb 01.
Artigo
Inglês
| MEDLINE | ID: mdl-25217574
7.
Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome.
Am J Hum Genet
; 91(6): 998-1010, 2012 Dec 07.
Artigo
Inglês
| MEDLINE | ID: mdl-23200864
8.
Systemic gene therapy rescues retinal dysfunction and hearing loss in a model of Norrie disease.
EMBO Mol Med
; 15(10): e17393, 2023 Oct 11.
Artigo
Inglês
| MEDLINE | ID: mdl-37642150
9.
Insights into the pathophysiology of DFNA44 hearing loss associated with CCDC50 frameshift variants.
Dis Model Mech
; 16(8)2023 08 01.
Artigo
Inglês
| MEDLINE | ID: mdl-37165931
10.
The Effect of a Pex3 Mutation on Hearing and Lipid Content of the Inner Ear.
Cells
; 11(20)2022 10 13.
Artigo
Inglês
| MEDLINE | ID: mdl-36291074
11.
The timing of auditory sensory deficits in Norrie disease has implications for therapeutic intervention.
JCI Insight
; 7(3)2022 02 08.
Artigo
Inglês
| MEDLINE | ID: mdl-35132964
12.
The novel mouse mutation Oblivion inactivates the PMCA2 pump and causes progressive hearing loss.
PLoS Genet
; 4(10): e1000238, 2008 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-18974863
13.
Inner hair cell dysfunction in Klhl18 mutant mice leads to low frequency progressive hearing loss.
PLoS One
; 16(10): e0258158, 2021.
Artigo
Inglês
| MEDLINE | ID: mdl-34597341
14.
Hearing impairment due to Mir183/96/182 mutations suggests both loss and gain of function effects.
Dis Model Mech
; 2020 Dec 14.
Artigo
Inglês
| MEDLINE | ID: mdl-33318051
15.
Synaptojanin2 Mutation Causes Progressive High-frequency Hearing Loss in Mice.
Front Cell Neurosci
; 14: 561857, 2020.
Artigo
Inglês
| MEDLINE | ID: mdl-33100973
16.
Functional analysis of candidate genes from genome-wide association studies of hearing.
Hear Res
; 387: 107879, 2020 03 01.
Artigo
Inglês
| MEDLINE | ID: mdl-31927188
17.
Evoked Potential Recordings of Auditory Brainstem Activity in the Mouse: An Optimized Method for the Assessment of Hearing Function of Mice.
Bio Protoc
; 9(23): e3447, 2019 Dec 05.
Artigo
Inglês
| MEDLINE | ID: mdl-33654942
18.
On the role of ephrinA2 in auditory function.
Hear Res
; 350: 11-16, 2017 07.
Artigo
Inglês
| MEDLINE | ID: mdl-28390777
19.
A large scale hearing loss screen reveals an extensive unexplored genetic landscape for auditory dysfunction.
Nat Commun
; 8(1): 886, 2017 10 12.
Artigo
Inglês
| MEDLINE | ID: mdl-29026089
20.
GABAergic inhibition controls neural gain in inferior colliculus neurons sensitive to interaural time differences.
J Neurosci
; 25(26): 6187-98, 2005 Jun 29.
Artigo
Inglês
| MEDLINE | ID: mdl-15987948