Results 81 to 90 of about 8,863 (195)

Molecular Etiology of Hearing Impairment in Inner Mongolia: mutations in SLC26A4 gene and relevant phenotype analysis

Journal of Translational Medicine, 2008
Background The molecular etiology of hearing impairment in Chinese has not been thoroughly investigated. Study of GJB2 gene revealed that 30.4% of the patients with hearing loss in Inner Mongolia carried GJB2 mutations.
Wu Bailin, Yuan Huijun, Kang Dongyang, Yu Fei, Zhu Xiuhui, Huang Deliang, Yuan Yongyi, Dai Pu, Han Dongyi, Wong Lee-Jun C   +9 more
doaj   +1 more source

Comprehensive Screening of Eight Known Causative Genes in Congenital Hypothyroidism With Gland-in-Situ. [PDF]

, 2016
CONTEXT: Lower TSH screening cutoffs have doubled the ascertainment of congenital hypothyroidism (CH), particularly cases with a eutopically located gland-in-situ (GIS).
Albanese, Assunta, Almaghamsi, Mohammad, Alyaarubi, Saif, Anderson, Carl A, Aycan, Zehra, Babiker, Amir, Bober, Ece, Brugger, Kim, Cangul, Hakan, Chatterjee, V Krishna K, Dattani, Mehul, Davies, Justin H, Deeb, Asma, Gregory, John W, Habeb, Abdelhadi M, Irwin, Rachael, Lyons, Greta, Maher, Eamonn R, Martin, Howard, Massoud, Ahmed F, Murray, Philip G, Nathwani, Nisha, Nicholas, Adeline K, Padidela, Raja, Park, Soo-Mi, Pease-Gevers, Evelien, Peters, Catherine, Puthi, Vijith, Saglam, Halil, Schoenmakers, Erik, Schoenmakers, Nadia, Serra, Eva G, Shenoy, Savitha, Thankamony, Ajay, Tharian, Kavitha, Ullah, Irfan, Willemsen, Ruben   +36 more
core   +7 more sources

The Concise Guide to PHARMACOLOGY 2025/26: Transporters

British Journal of Pharmacology, Volume 182, Issue S1, Page S404-S496, December 2025.
The Concise Guide to Pharmacology 2025/26 marks the seventh edition in this series of biennial publications in the British Journal of Pharmacology. Presented in landscape format, the guide provides a comparative overview of the pharmacology of drug target families. The concise nature of the Concise Guide refers to the style of presentation, being clear,
Stephen P. H. Alexander, Alasdair J. Gibb, Eamonn Kelly, Alistair A. Mathie, Chloe J. Peach, Emma L. Veale, Jane F. Armstrong, Elena Faccenda, Simon D. Harding, Christopher Southan, Jamie A. Davies, Laura Amarosi, Catriona M. H. Anderson, Philip M. Beart, Stefan Broer, Paul A. Dawson, Gergely Gyimesi, Bruno Hagenbuch, James R. Hammond, Jules C. Hancox, Michal Hershfinkel, Ken‐ichi Inui, Yoshikatsu Kanai, Stephan Kemp, Edmund R. S. Kunji, Gavin Stewart, Sotiria Tavoulari, David T. Thwaites, Tiziano Verri   +28 more
wiley   +1 more source

A Novel SLC26A4 (PDS) Deafness Mutation Retained in the Endoplasmic Reticulum [PDF]

Archives of Otolaryngology–Head & Neck Surgery, 2008
To identify mutations in the SLC26A4 gene in individuals with nonsyndromic hearing loss and enlarged vestibular aqueduct, to design a predicted model of the pendrin protein, and to characterize novel mutations by means of localization in mammalian cells and effect of the mutation on the predicted model.Validation of the mutation by its exclusion in ...
Zippora N, Brownstein, Amiel A, Dror, Dror, Gilony, Lela, Migirov, Koret, Hirschberg, Karen B, Avraham   +5 more
openaire   +2 more sources

The gastric H,K-ATPase in stria vascularis contributes to pH regulation of cochlear endolymph but not to K secretion [PDF]

, 2016
Citation: Miyazaki, H., Wangemann, P., & Marcus, D. C. (2016). The gastric H,K-ATPase in stria vascularis contributes to pH regulation of cochlear endolymph but not to K secretion. BMC Physiology, 17(1), 1.
Marcus, Daniel C., Miyazaki, Hiromitsu, Wangemann, Antje Philine   +2 more
core   +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

SLC26A4-linked CEVA haplotype correlates with phenotype in patients with enlargement of the vestibular aqueduct

BMC Medical Genetics, 2019
Background Recessive mutations of coding regions and splice sites of the SLC26A4 gene cause hearing loss with enlargement of the vestibular aqueduct (EVA).
Janet R. Chao, Parna Chattaraj, Tina Munjal, Keiji Honda, Kelly A. King, Christopher K. Zalewski, Wade W. Chien, Carmen C. Brewer, Andrew J. Griffith   +8 more
doaj   +1 more source

Evaluation of the usefulness of three-dimensional optical coherence tomography in a guinea pig model of endolymphatic hydrops induced by surgical obliteration of the endolymphatic duct [PDF]

, 2015
Optical coherence tomography (OCT) has advanced significantly over the past two decades and is currently used extensively to monitor the internal structures of organs, particularly in ophthalmology and dermatology.
Jang Woo Lee, Jeehyun Kim, Jeong Hun Jang, Jin-ho Cho, Kakigi, Megerian, Nam Hyun Cho, Woonggyu Jung   +7 more
core   +2 more sources

The Diverse Genetic Landscape of Hearing Impairment in South African Families

Clinical Genetics, Volume 108, Issue 5, Page 511-520, November 2025.
South African Families with Nonsyndromic (N = 24) and Syndromic Hearing Impairment (N = 21) with ≥ 2 affected members were analyzed. The underlying etiology was uncovered using exome and Sanger sequencing for 31 of these families. ABSTRACT To elucidate the genetic etiology of hearing impairment (HI) in South Africa, 45 nonsyndromic HI (NSHI) and ...
Thashi Bharadwaj, Anushree Acharya, Noluthando Rearabetswe Manyisa, Elvis Twumasi Aboagye, Ramses Peigou Wonkam, Lettilia Xhakaza, Kalinka Popel, Carmen de Kock, Isabelle Schrauwen, Ambroise Wonkam, Suzanne M. Leal   +10 more
wiley   +1 more source

Caratterizzazione della mutazione SLC26A4 c.918+2T>C e report di una nuova variante potenzialmente a rischio [PDF]

Acta Otorhinolaryngologica Italica, 2016
La sindrome di Pendred è, in ordine di frequenza, la seconda causa di ipoacusia su base genetica autosomica recessiva. Si manifesta con un ipoacusia accompagnata dalla presenza di un gozzo tiroideo con eventuale ipotiroidismo.
A.C. Gonçalves, R. Santos, A. O’Neill, P. Escada, G. Fialho, H. Caria   +5 more
doaj   +1 more source