Results 81 to 90 of about 7,226 (202)

Comparison of vestibular function in hereditary hearing loss patients with GJB2, CDH23, and SLC26A4 variants

Scientific Reports
To investigate the association between hereditary hearing loss and vestibular function, we compared vestibular function and symptoms among patients with GJB2, SLC26A4, and CDH23 variants.
Keita Tsukada, Shin-ya Nishio, Yutaka Takumi, Shin-ichi Usami   +3 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

Resolving the genetic heterogeneity of prelingual hearing loss within one family: Performance comparison and application of two targeted next generation sequencing approaches. [PDF]

, 2014
published_or_final_versio
A Yin, AE Shearer, AE Shearer, AJ Coffey, AM Sulonen, C Petit, C Petit, CC Morton, DL Dinwiddie, Dongyi Han, Fei Ji, G Van Camp, HM Woo, Huijun Yuan, I Schrauwen, Jing Cheng, JM Schultz, KwongWai Choy, Liyang Liu, LM Astuto, M Sotomayor, MA DePristo, MA Musarella, Michael Zhang, MJ Clark, NE Morton, PJ Coucke, R Tewhey, RJ Smith, SE Calvo, TA Sivakumaran, V Plagnol, W Tang, Weidong Shen, X Lin, X Liu, Xuegong Zhang, Xueya Zhou, Y Yuan, Ye Cao, Yu Lu, Z Brownstein, Zhanguo Jin   +42 more
core   +1 more source

A novel genotyping technique for discriminating LVAS-associated hotspot mutations in SLC26A4 gene

, 2020
Abstract An increasing number of biological and epidemiological evidence suggests that IVS7-2A>G and 2168A>G mutations of solute carrier family 26, member 4 ( SLC26A4 ) gene plays a critical role in the development of large vestibular aqueduct syndrome (LVAS).
Chen Zhou, Xiangman Zou, Cuiying Peng, Guoqiang Gao, Zifen Guo   +4 more
openaire   +1 more source

Goitrous Congenital Hypothyroidism and Hearing Impairment Associated with Mutations in the TPO and SLC26A4/PDS Genes [PDF]

The Journal of Clinical Endocrinology & Metabolism, 2006
Abstract Context: Pendred syndrome (PS) and thyroid peroxidase (TPO) deficiency are autosomal-recessive disorders that result in thyroid dyshormonogenesis. They share congenital hypothyroidism, goiter, and an iodide organification defect as common features.
Nicole, Pfarr, Guntram, Borck, Andrew, Turk, Ulrike, Napiontek, Annerose, Keilmann, Wibke, Müller-Forell, Peter, Kopp, Joachim, Pohlenz   +7 more
openaire   +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

A multiplex PCR amplicon sequencing assay to screen genetic hearing loss variants in newborns

BMC Medical Genomics, 2021
Background Congenital hearing loss is one of the most common birth defects. Early identification and management play a crucial role in improving patients’ communication and language acquisition.
Haiyan Yang, Hongyu Luo, Guiwei Zhang, Junqing Zhang, Zhiyu Peng, Jiale Xiang   +5 more
doaj   +1 more source

Developmental Hypoxia Enhances Kidney Organoid Complexity and Maturity

Advanced Science, Volume 12, Issue 40, October 27, 2025.
The current bottleneck in metanephric mesenchyme (MM)‐derived nephron organoid development is the absence of a connected network of collecting ducts (CD) derived from the ureteric bud (UB). To address this limitation, this study proposes a hypoxia‐based differentiation method that mimics the natural renal developmental environment, enabling the ...
Hyeonji Lim, Dohui Kim, Haejin Yoon, Joo H. Kang, Yong Jun Kim, Dong Sung Kim, Tae‐Eun Park   +6 more
wiley   +1 more source

Pärilik ehk geneetiline kuulmislangus [PDF]

, 2007
Kuulmislangus on kõige enam levinud sensoorne haigus kogu maailmas. Varajase ehk kõne-eelse kuulmislanguse esinemissagedus arvatakse olevat 1–2 juhtu 1000 lapse kohta ning pooltel juhtudest on see pärilik. Geneetiline kuulmislangus jagatakse sündroomseks
Joost, Kairit, Kruustük, Katrin, Kull, Mart, Oitmaa, Eneli, Raukas, Elve, Teek, Rita, Žordania, Riina   +6 more
core   +2 more sources

Different Contribution of Missense and Loss‐of‐Function Variants to the Genetic Structure of Familial and Sporadic Meniere Disease

MedComm, Volume 6, Issue 10, October 2025.
This study examines the genetic basis of sporadic (SMD) and familial Meniere disease (FMD) by comparing rare protein‐coding variants using exome sequencing and gene burden analysis. FMD patients had a higher accumulation of missense and LoF variants, especially in genes linked to auditory and vestibular function.
Alberto M. Parra‐Perez, Alvaro Gallego‐Martinez, Alba Escalera‐Balsera, Paula Robles‐Bolivar, Patricia Perez‐Carpena, Jose A. Lopez‐Escamez   +5 more
wiley   +1 more source