Results 51 to 60 of about 1,143,125 (138)

TMED3 Complex Mediates ER Stress‐Associated Secretion of CFTR, Pendrin, and SARS‐CoV‐2 Spike

Advanced Science, 2022
Under ER stress conditions, the ER form of transmembrane proteins can reach the plasma membrane via a Golgi‐independent unconventional protein secretion (UPS) pathway. However, the targeting mechanisms of membrane proteins for UPS are unknown. Here, this
Hak Park, Soo Kyung Seo, Ju‐Ri Sim, Su Jin Hwang, Ye Jin Kim, Dong Hoon Shin, Dong Geon Jang, Shin Hye Noh, Pil‐Gu Park, Si Hwan Ko, Mi Hwa Shin, Jae Young Choi, Yukishige Ito, Chung‐Min Kang, Jae Myun Lee, Min Goo Lee   +15 more
doaj   +1 more source

Treating Hearing Loss: From Cochlear Implantation to Gene Therapy

Advanced Science, Volume 12, Issue 41, November 6, 2025.
Cochlear implantation is the primary treatment for deafness, restoring functional hearing in over a million people. Recently, gene therapy has enabled biological hearing restoration in a small number of patients with OTOF‐related mutations. This perspective evaluates both approaches, concluding that cochlear implants will remain the standard for most ...
Fan‐Gang Zeng, Jieyu Qi, Chen‐Chi Wu, Yilai Shu, Renjie Chai   +4 more
wiley   +1 more source

Loss of KCNJ10 protein expression abolishes endocochlear potential and causes deafness in Pendred syndrome mouse model

BMC Medicine, 2004
Background Pendred syndrome, a common autosomal-recessive disorder characterized by congenital deafness and goiter, is caused by mutations of SLC26A4, which codes for pendrin.
Wall Susan M, Everett Lorraine A, Ho Lee Jun, Maganti Rajanikanth J, Jabba Sairam V, Wu Tao, Albrecht Beatrice, Itza Erin M, Wangemann Philine, Royaux Ines E, Green Eric D, Marcus Daniel C   +11 more
doaj   +1 more source

Bilateral Enlarged Vestibular Aqueduct: Auditory, Genetic and Radiological Characterization, and Benefits of Cochlear Implants

Otolaryngology–Head and Neck Surgery, Volume 173, Issue 5, Page 1215-1227, November 2025.
Abstract Objective The study aimed to describe the auditory phenotype of patients with bilateral enlarged vestibular aqueduct, including benefits of cochlear implantation, and to look for genotype‐phenotype correlation. Study Design Retrospective single‐center study. Setting Tertiary adult reference center.
Augustin Vigouroux, Benjamin Glemain, Renato Torres, Laurence Jonard, Natalie Loundon, Evelyne Ferrary, Isabelle Mosnier, Hannah Daoudi, Sandrine Marlin, Ghizlene Lahlou   +9 more
wiley   +1 more source

Genetic Screening of and in Korean Cochlear Implantees: Experience of Soree Ear Clinic [PDF]

Clinical and Experimental Otorhinolaryngology, 2012
ObjectivesGenetic hearing loss is highly heterogeneous and more than 100 genes are predicted to cause this disorder in humans. In spite of this large genetic heterogeneity, mutations in SLC26A4 and GJB2 genes are primarily responsible for the major ...
Joong-Wook Shin, Seung-Chul Lee, Ho-Ki Lee, Hong-Joon Park   +3 more
doaj   +1 more source

Case report: De novo pathogenic variant in WFS1 causes Wolfram-like syndrome debuting with congenital bilateral deafness

Frontiers in Genetics, 2022
Background: Congenital deafness could be the first manifestation of a syndrome such as in Usher, Pendred, and Wolfram syndromes. Therefore, a genetic study is crucial in this deficiency to significantly improve its diagnostic efficiency, to predict the ...
Laura Alías, Laura Alías, Miguel López de Heredia, Sabina Luna, Núria Clivillé, Lídia González-Quereda, Lídia González-Quereda, Pía Gallano, Pía Gallano, Júlia de Juan, Albert Pujol, Santiago Diez, Susana Boronat, César Orús, Adriana Lasa, Adriana Lasa, María del Prado Venegas   +16 more
doaj   +1 more source

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

Advanced Science, Volume 12, Issue 29, August 7, 2025.
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

Report of Iranian Family with Pendred Syndrome with New Mutation T420I, and Multiply Heterozygous New Mutation T420I and 1197delT

Journal of Rehabilitation, 2005
The incidence of profound congenital hearing loss is about 1 in 1,000 live birth. There are more than 50 distinct genetic loci (known as DFNB loci) at which mutations can cause recessive hearing loss. DFNB4, one recessive locus for deafness, also maps to
Hossein Najm-Abadi, Kimia Kahrizi, Marzieh Mohseni, Fatemeh Sadat Esteghamat, Sanaz Arzhangi, Richard Smith   +5 more
doaj  

Mutation screening of the SLC26A4 gene in a cohort of 192 Chinese patients with congenital hypothyroidism

Archives of Endocrinology and Metabolism, 2016
Objective Pendred syndrome (PS) is an autosomal recessive disorder characterised by sensorineural hearing loss and thyroid dyshormonogenesis. It is caused by biallelic mutations in the SLC26A4 gene encoding for pendrin.
Chunyun Fu, Haiyang Zheng, Shujie Zhang, Yun Chen, Jiasun Su, Jin Wang, Bobo Xie, Xuyun Hu, Xin Fan, Jingsi Luo, Chuan Li, Rongyu Chen, Yiping Shen, Shaoke Chen   +13 more
doaj   +1 more source

Two frequent missense mutations in Pendred syndrome

, 1998
Pendred syndrome is an autosomal recessive disorder characterized by early childhood deafness and goiter. A century after its recognition as a syndrome by Vaughan Pendred, the disease gene ( PDS ) was mapped to chromosome 7q22-q31.1 and, recently, found ...
Everett, L. A., Willems, P. J., Ris-Stalpers, Carrie, Willems, Patrick J., Srikumari Srisailpathy, C.R., Ramesh, A., Kraft, Michelle L., Green, E.D., Dietrich, N. L., Srisailapathy, S., Scott, D. A., Everett, Lorraine A., Cremers, C. W., Dietrich, Nicole L., Green, Eric D., Willems, P.H.G.M., van Camp, G., Smith, R. J., Otten, B.J., Scott, Daryl A., Parving, Agnete, Everett, L.A., Bolder, C.H.H.M., Kraft, M.L., Otten, Barto, Srisailapathy, S. C., Smith, Richard J.H., Camp, G. van, Ris-Stalpers, C., Green, E. D., Cremers, C.W.R.J., Coucke, P., Dietrich, N.L., Parving, A., Bolder, Cuny, Scott, D.A., Kraft, M. L., de Vijlder, J. J., Cremers, Cor W.R.J., Bolder, C., de Vijlder, Jan J.M., Otten, B., van Hauwe, Peter, Smith, R.J.H., Coucke, Paul, Coucke, P.J., Hauwe, P. van, van Hauwe, P., Vijlder, J. de, Van Camp, Guy, Ramesh, Arabandi   +50 more
core   +1 more source