Results 81 to 90 of about 74,884 (346)

Long‐Lasting Auditory and Vestibular Recovery Following Gene Replacement Therapy in a Novel Usher Syndrome Type 1c Mouse Model

Advanced Science, EarlyView.
This study shows that gene replacement therapy using the AAV2/Anc80L65 virus can successfully restore hearing and balance in Ush1c knockout mice. The treatment leads to lasting improvements in both auditory and vestibular functions, highlighting its potential as a therapeutic approach for genetic hearing loss and vestibular disorders in humans ...
Weinan Du, Jun Huang, Aizhen Zhang, Fangfang Zhao, Tianwen Chen, Quinn M. McDermott, Tony Zheng, Haibo Wang, Rongli Zhang, Xiaolin Zhang, Jerome Allison, Hong Zhu, Wu Zhou, Qing Yin Zheng   +13 more
wiley   +1 more source

Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome). [PDF]

, 2011
We report an allelic series of eight mutations in GATA2 underlying Emberger syndrome, an autosomal dominant primary lymphedema associated with a predisposition to acute myeloid leukemia.
C Preudhomme, Colin G Steward, Daniela T Pilz, Dimitra Dafou, F-Y Tsai, Fiona C Connell, Glen Brice, Ines Martinez-Corral, M Haugas, M Khandekar, Michael A Simpson, ML Smith, NP Rodrigues, P Callier, Peter Lunt, Peter S Mortimer, Pia Ostergaard, Q Tong, R Zheng, Richard C Trembath, Russell Keenan, S Mansour, S-J Zhang, Sahar Mansour, Sarah Smithson, Shirley Hodgson, Steve Jeffery, T Pabst, Taija Makinen, Tatjana Kilo, Victoria A Murday, W-J Song, Wesley J Woollard   +32 more
core   +1 more source

The Reconstruction of Peripheral Auditory Circuit: Recent Advances and Future Challenges

Advanced Science, EarlyView.
This paper summarizes the potential of biomaterials, stem cells, and gene editing technologies in the regeneration of inner ear hair cells, spiral ganglion neurons, and inner ear organoids. Challenges and potential developments are discussed and explored.
Zhe Li, Ying Zhang, Zhenyu Xiao, Jieyu Qi   +3 more
wiley   +1 more source

Mutations impairing GSK3-mediated MAF phosphorylation cause cataract, deafness, intellectual disability, seizures, and a down syndrome-like facies [PDF]

, 2015
Transcription factors operate in developmental processes to mediate inductive events and cell competence, and perturbation of their function or regulation can dramatically affect morphogenesis, organogenesis, and growth.
Anselmi, Massimiliano, Bocchinfuso, Gianfranco, Boitani, Carla, Braddock, Stephen R., Bruselles, Alessandro, Campeau, Philippe M., Caputo, Viviana, Cecchetti, Serena, Ciolfi, Andrea, Fiorenza, Maria T., Gillessen-Kaesbach, Gabriele, Gripp, Karen W., Katsanis, Nicholas, Keppler-Noreuil, Kim, Kousi, Maria, Lee, Brendan H.L., Leoni, Chiara, Nakane, Takaya, Niceta, Marcello, Niyazov, Dmitriy, Palleschi, Antonio, Philip, Nicole, Pouponnot, Celio, Prudente, Sabrina, Sol-Church, Katia, Stabley, Deborah, Stella, Lorenzo, Stellacci, Emilia, Tartaglia, Marco, Traversa, Alice, Zampino, Giuseppe   +30 more
core   +3 more sources

Sensorineural hearing loss and prematurity [PDF]

Archives of Disease in Childhood - Fetal and Neonatal Edition, 2000
To elucidate clinical antecedents of sensorineural hearing loss (SNHL) in very preterm infants.Case-control study.Fifteen children < 33 weeks' gestation with significant SNHL born between 1 January 1990 and 31 December 1994, detected within 9 months of birth, and 30 matched control children.Perinatal variables in the two groups were compared using non ...
Linda P. Hunt, Neil Marlow, Elaine S Marlow   +2 more
openaire   +3 more sources

Conditional Overexpression of Serpine2 Promotes Hair Cell Regeneration from Lgr5+ Progenitors in the Neonatal Mouse Cochlea

Advanced Science, EarlyView.
This study indicates that Serpine2 plays a pivotal role in hair cell (HC) regeneration from Lgr5+ progenitors in the neonatal mouse cochlea. Conditional overexpression of Serpine2 in cochlear Lgr5+ progenitors results in a significantly increased number of ectopic HCs, particularly ectopic inner HCs, and these HCs are likely derived from Lgr5 ...
Hairong Xiao, Jiheng Wu, Lixuan Huang, Ying Ma, Leilei Wu, Yanqin Lin, Zixuan Ye, Xin Tan, Xujun Tang, Wei Tong, Mingchen Dai, Yintao Wang, Xia Sheng, Renjie Chai, Shasha Zhang   +14 more
wiley   +1 more source

Risk factors for sensorineural hearing loss in children

Payesh, 2002
Objective: To determine Risk factors for sensorineural hearing loss in children. Material & methods: The association of selected  risk factors with sensorineural hearing loss was assessed in a case- control study of 396 children aged under 6 years from ...
Sadighi J, Majlesi F
doaj  

Transient-evoked otoacoustic emission signals predicting outcomes of acute sensorineural hearing loss in patients with Meniere's Disease [PDF]

arXiv, 2019
Background: Fluctuating hearing loss is characteristic of Meniere's Disease (MD) during acute episodes. However, no reliable audiometric hallmarks are available for counselling the hearing recovery possibility. Aims/Objectives: To find parameters for predicting MD hearing outcomes. Material and Methods: We applied machine learning techniques to analyse
arxiv  

Vestibular schwannoma and ipsilateral endolymphatic hydrops: an unusual association [PDF]

, 2017
Vestibular schwannoma and endolymphatic hydrops are two conditions that may present with similar audio-vestibular symptoms. The association of the two in the same patient represents an unusual nding that may lead clinicians to errors and delays in ...
ALTISSIMI, Giancarlo, CIANFRONE, Giancarlo, D'AGUANNO, VITTORIO, DE VINCENTIIS, Marco, GRECO, Antonio, LONGO, Lucia, RALLI, MASSIMO, TOMBOLINI, MARIO, TURCHETTA, Rosaria   +8 more
core   +2 more sources

Metabolomic and Cellular Mechanisms of Drug‐Induced Ototoxicity and Nephrotoxicity: Therapeutic Implications of Uric Acid Modulation

Advanced Science, EarlyView.
Drug‐induced renal damage impairs uric acid excretion, causing its accumulation in the serum, which subsequently infiltrates the cochlea. Xanthine oxidase and the ABCG2 transporter, critical in uric acid metabolism and excretion, undergo pathological changes in renal tubular and cochlear stria vascularis cells.
Suhan Guo, Cheng Cheng, Yunhao Wu, Kaidi Shen, Depeng Zhang, Bin Chen, Xinyu Wang, Luping Shen, Qixiang Zhang, Renjie Chai, Guangji Wang, Fang Zhou   +11 more
wiley   +1 more source