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Items: 1 to 20 of 100

1.
Comparison of vestibular function in hereditary hearing loss patients with GJB2, CDH23, and SLC26A4 variants
Keita Tsukada, Shin-ya Nishio, Yutaka Takumi, Shin-ichi Usami
Sci Rep. 2024; 14: 10596. Published online 2024 May 8. doi: 10.1038/s41598-024-61442-3
PMCID:
PMC11078969
AbstractArticlePDF–1.2M
2.
Chloride/Multiple Anion Exchanger SLC26A Family: Systemic Roles of SLC26A4 in Various Organs
Dongun Lee, Jeong Hee Hong
Int J Mol Sci. 2024 Apr; 25(8): 4190. Published online 2024 Apr 10. doi: 10.3390/ijms25084190
PMCID:
PMC11050216
AbstractArticlePDF–1.3M
3.
Functional Studies of Deafness-Associated Pendrin and Prestin Variants
Satoe Takahashi, Takashi Kojima, Koichiro Wasano, Kazuaki Homma
Int J Mol Sci. 2024 Mar; 25(5): 2759. Published online 2024 Feb 27. doi: 10.3390/ijms25052759
PMCID:
PMC10931795
AbstractArticlePDF–3.8M
4.
Low frequency of SLC26A4 c.919-2A > G variant among patients with nonsyndromic hearing loss in Yunnan of Southwest China
Yan-Qiong Li, Heng Ma, Qin-Yao Wang, De-Sheng Liu, Wei Wang, Shi-Xin Li, Rong-Xia Zuo, Tao Shen, Bao-Sheng Zhu, Ya-Lian Sa
BMC Med Genomics. 2024; 17: 55. Published online 2024 Feb 20. doi: 10.1186/s12920-024-01829-3
PMCID:
PMC10877886
AbstractArticlePDF–1.1M
5.
Identification and computational analysis of USH1C, and SLC26A4 variants in Pakistani families with prelingual hearing loss
Muhammad Noman, Shazia A. Bukhari, Sakina Rehman, Muhammad Qasim, Muhammad Ali, Saima Riazuddin, Zubair M. Ahmed
Mol Biol Rep. Author manuscript; available in PMC 2023 Nov 27.
Published in final edited form as: Mol Biol Rep. 2020 Dec; 47(12): 9987–9993. Published online 2020 Nov 24. doi: 10.1007/s11033-020-06016-y
PMCID:
PMC10680121
AbstractArticlePDF–940K
6.
Dispersed DNA variants underlie hearing loss in South Florida’s minority population
LéShon Peart, Joanna Gonzalez, Dayna Morel Swols, Duygu Duman, Turcin Saridogan, Memoona Ramzan, Mohammad Faraz Zafeer, Xue Zhong Liu, Adrien A. Eshraghi, Michael E. Hoffer, Simon I. Angeli, Guney Bademci, Susan Blanton, Carson Smith, Fred F. Telischi, Mustafa Tekin
Hum Genomics. 2023; 17: 103. Published online 2023 Nov 24. doi: 10.1186/s40246-023-00556-7
PMCID:
PMC10668374
AbstractArticlePDF–1.3M
7.
Genotype-phenotype correlations for SLC26A4-related deafness
Hela Azaiez, Tao Yang, Sai Prasad, Jessica L. Sorensen, Carla J. Nishimura, Richard J. H. Smith
Hum Genet. Author manuscript; available in PMC 2023 Sep 25.
Published in final edited form as: Hum Genet. 2007 Dec; 122(5): 451–457. Published online 2007 Aug 10. doi: 10.1007/s00439-007-0415-2
PMCID:
PMC10519375
AbstractArticlePDF–681K
8.
Cross-linking mass spectrometry discovers, evaluates, and corroborates structures and protein–protein interactions in the human cell
Tara K. Bartolec, Xabier Vázquez-Campos, Alexander Norman, Clement Luong, Marcus Johnson, Richard J. Payne, Marc R. Wilkins, Joel P. Mackay, Jason K. K. Low
Proc Natl Acad Sci U S A. 2023 Apr 25; 120(17): e2219418120. Published online 2023 Apr 18. doi: 10.1073/pnas.2219418120
PMCID:
PMC10151615
AbstractArticlePDF–2.9M
9.
Insight into the Natural History of Pathogenic Variant c.919-2A>G in the SLC26A4 Gene Involved in Hearing Loss: The Evidence for Its Common Origin in Southern Siberia (Russia)
Valeriia Yu. Danilchenko, Marina V. Zytsar, Ekaterina A. Maslova, Konstantin E. Orishchenko, Olga L. Posukh
Genes (Basel) 2023 Apr; 14(4): 928. Published online 2023 Apr 17. doi: 10.3390/genes14040928
PMCID:
PMC10137394
AbstractArticlePDF–2.7M
10.
前庭水管扩大患者颞骨高分辨率CT和SLC26A4基因及听力损失的相关性研究
赵 质彬, 祝 园平, 符 一飞, 姜 鸿彦
Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2022 Oct 3; 36(10): 736–740. Chinese. doi: 10.13201/j.issn.2096-7993.2022.10.002
PMCID:
PMC10128559
AbstractArticlePDF–763K
11.
SLC26A4基因在大前庭水管综合征和/或Mondini畸形患儿中突变频率的观察
刘 亚青, 黄 正华, 孙 晨, 沈 小飞, 李 伟, 李 琦
Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2021 Oct 5; 35(10): 891–895. Chinese. doi: 10.13201/j.issn.2096-7993.2021.10.006
PMCID:
PMC10127702
AbstractArticlePDF–2.1M
12.
Mutation screening of the SLC26A4 gene in a cohort of 192 Chinese patients with congenital hypothyroidism
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
Arch Endocrinol Metab. 2016 Jul-Aug; 60(4): 323–327. Published online 2015 Jan 1. doi: 10.1590/2359-3997000000108
PMCID:
PMC10118720
AbstractArticlePDF–149K
13.
SLC26A4 Phenotypic Variability Influences Intra- and Inter-Familial Diagnosis and Management
Mohamed Tawalbeh, Dunia Aburizeg, Bayan O. Abu Alragheb, Wala Sami Alaqrabawi, Zain Dardas, Luma Srour, Baraah Hatem Altarayra, Ayman A. Zayed, Zaid El Omari, Bilal Azab
Genes (Basel) 2022 Dec; 13(12): 2192. Published online 2022 Nov 23. doi: 10.3390/genes13122192
PMCID:
PMC9778369
AbstractArticlePDF–2.2M
14.
Analysis of SLC26A4, FOXI1, and KCNJ10 Gene Variants in Patients with Incomplete Partition of the Cochlea and Enlarged Vestibular Aqueduct (EVA) Anomalies
Leonid A. Klarov, Vera G. Pshennikova, Georgii P. Romanov, Aleksandra M. Cherdonova, Aisen V. Solovyev, Fedor M. Teryutin, Nikolay V. Luginov, Petr M. Kotlyarov, Nikolay A. Barashkov
Int J Mol Sci. 2022 Dec; 23(23): 15372. Published online 2022 Dec 6. doi: 10.3390/ijms232315372
PMCID:
PMC9740095
AbstractArticlePDF–2.1M
15.
Selection of Diagnostically Significant Regions of the SLC26A4 Gene Involved in Hearing Loss
Valeriia Yu. Danilchenko, Marina V. Zytsar, Ekaterina A. Maslova, Olga L. Posukh
Int J Mol Sci. 2022 Nov; 23(21): 13453. Published online 2022 Nov 3. doi: 10.3390/ijms232113453
PMCID:
PMC9655724
AbstractArticlePDF–2.4M
16.
SLC26A4 Mutation Promotes Cell Apoptosis by Inducing Pendrin Transfer, Reducing Cl− Transport, and Inhibiting PI3K/Akt/mTOR Pathway
Xiang Dai, Jun Li, XiJiang Hu, Jian Ye, WenQian Cai
Biomed Res Int. 2022; 2022: 6496799. Published online 2022 Aug 29. doi: 10.1155/2022/6496799
PMCID:
PMC9444440
AbstractArticlePDF–3.4M
17.
SLC26A4 correlates with homologous recombination deficiency and patient prognosis in prostate cancer
Cong Luo, Zhi Liu, Yu Gan, Xiaomei Gao, Xiongbing Zu, Ye Zhang, Wenrui Ye, Yi Cai
J Transl Med. 2022; 20: 313. Published online 2022 Jul 14. doi: 10.1186/s12967-022-03513-5
PMCID:
PMC9281181
AbstractArticlePDF–18M
18.
Identification of IQGAP1 as a SLC26A4 (Pendrin)-Binding Protein in the Kidney
Jie Xu, Sharon Barone, Mujan Varasteh Kia, L. Shannon Holliday, Kamyar Zahedi, Manoocher Soleimani
Front Mol Biosci. 2022; 9: 874186. Published online 2022 May 5. doi: 10.3389/fmolb.2022.874186
PMCID:
PMC9117723
AbstractArticlePDF–2.5M
19.
Exploring the missing heritability in subjects with hearing loss, enlarged vestibular aqueducts, and a single or no pathogenic SLC26A4 variant
Jeroen J. Smits, Suzanne E. de Bruijn, Cornelis P. Lanting, Jaap Oostrik, Luke O’Gorman, Tuomo Mantere, DOOFNL Consortium, Frans P. M. Cremers, Susanne Roosing, Helger G. Yntema, Erik de Vrieze, Ronny Derks, Alexander Hoischen, Sjoert A. H. Pegge, Kornelia Neveling, Ronald J. E. Pennings, Hannie Kremer
Hum Genet. 2022; 141(3-4): 465–484. Published online 2021 Aug 19. doi: 10.1007/s00439-021-02336-6
Correction in:
Hum Genet. 2022; 141(3-4): 991.
PMCID:
PMC9035008
AbstractArticlePDF–1.6M
20.
Mutation Screening and Functional Study of SLC26A4 in Chinese Patients with Congenital Hypothyroidism
Chang-Run Zhang, Yuan-Ping Shi, Cao-Xu Zhang, Feng Sun, Wen-Jiao Zhu, Rui-Jia Zhang, Ya Fang, Qian-Yue Zhang, Chen-Yan Yan, Ying-Xia Ying, Shuang-Xia Zhao, Huai-Dong Song
J Clin Res Pediatr Endocrinol. 2022 Mar; 14(1): 46–55. Published online 2022 Mar 3. doi: 10.4274/jcrpe.galenos.2021.2021.0122
PMCID:
PMC8900076
AbstractArticlePDF–1.6M

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