Results 81 to 90 of about 30,564 (313)

Single Administration of AAV‐mAtp6v1b2 Gene Therapy Rescues Hearing and Vestibular Disorders Caused by Atp6v1b2‐Induced Lysosomal Dysfunction in Hair Cells

Advanced Science, EarlyView.
Wei et al. establish a hair cell‐specific conditional knockout mouse model (Atp6v1b2fl/fl;Atoh1Cre/+), and demonstrate the importance of Atp6v1b2 for hair cell through maintaining the survival of lysosomes. A single administration of AAV‐ie‐Eh3‐mAtp6v1b2 through scala media at P0‐P2 realizes function compensation and restores hearing and balance ...
Gege Wei, Shiwei Qiu, Xue Gao, Lu Zheng, Yijin Chen, Ying Ma, Haifeng Feng, Jinyuan Yang, Guojie Dong, Huiyi Nie, Weihao Zhao, Xiaoge Li, Guangqin Wang, Wei Xiong, Pu Dai, Yongyi Yuan   +15 more
wiley   +1 more source

Tissue-specific calibration of extracellular matrix material properties by transforming growth factor-beta and Runx2 in bone is required for hearing [PDF]

, 2010
Publisher version: http://www.nature.com/embor/journal/v11/n10/full/embor2010135.htmlDA - 20100917 IS - 1469-3178 (Electronic) IS - 1469-221X (Linking) LA - ENG PT - JOURNAL ARTICLEDA - 20100917 IS - 1469-3178 (Electronic) IS - 1469-221X (Linking) LA ...
Alexandra E Porter, Anil Lalwani, Carol G Chen, Currey JD, Delia S Brauer, Emily N Chin, Filvaroff E, Grayson W Marshall, Guive Balooch, Higashi K, Jacob Johnson, Jolie L Chang, Kristin Butcher, Lawrence Lustig, Mary Beth Humphrey, Omar Akil, Richard A Schneider, Rik Derynck, Robert O Ritchie, Sally J Marshall, Sorensen MS, Tamara Alliston   +21 more
core   +1 more source

Sensorineural Deafness Among Patients with Chronic Renal Failure in Al-kindi Teaching Hospital

مجله كليه طب الكندي, 2011
Background: Patients with chronic kidney disease have different grades of sensorineural deafness . Objective: To study the incidence of sensorineural hearing loss and possible contributing factors in patients with chronic kidney disease.
Raad Aboud Aloubaide, Ali Jassim Alsaedi, Raed Saker, Nawar Satta Jamil, Faris Abbass Mohammed   +4 more
doaj  

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

Indian Sign Language Recognition Using Mediapipe Holistic [PDF]

arXiv, 2023
Deaf individuals confront significant communication obstacles on a daily basis. Their inability to hear makes it difficult for them to communicate with those who do not understand sign language. Moreover, it presents difficulties in educational, occupational, and social contexts.
arxiv  

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

A Recessive Mutation Resulting in a Disabling Amino Acid Substitution (T194R) in the LHX3 Homeodomain Causes Combined Pituitary Hormone Deficiency [PDF]

, 2012
Background/Aims: Recessive mutations in the LHX3 homeodomain transcription factor gene are associated with developmental disorders affecting the pituitary and nervous system. We describe pediatric patients with combined pituitary hormone deficiency (CPHD)
Bechtold-Dalla Pozza, Susanne, Duran-Prado, Mario, Hiedl, Stefan, Lohse, Peter, Malik, Raleigh E., Park, Soyoung, Rhodes, Simon J., Roeb, Julia   +7 more
core   +1 more source

Rational Design of Inner Ear Drug Delivery Systems

Advanced Science, EarlyView.
Hearing loss is a common disease affecting many people, and inner ear lesions are one of the most important causes. This review focuses on the treatment of inner ear hearing loss by drug delivery systems. It includes the current methods and technologies developed, and it predicts possible directions.
Xiayidan Maimaitikelimu, Zhiyan Xuan, Haoyu Ren, Keng Chen, Hui Zhang, Huan Wang   +5 more
wiley   +1 more source

Familial Ménière's disease: clinical and genetic aspects [PDF]

, 2009
Background and purpose:Mre's disease is not uncommon, with an incidence in Caucasians of about one in 2000. The incidence peaks in the fifth decade. Cases are usually isolated or sporadic, but in perhaps five per cent other family members are affected ...
Bailey, M.E.S., Morrison, A W, Morrison, G A J   +2 more
core   +1 more source