| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Dongun Lee, Jeong Hee Hon. Chloride/Multiple Anion Exchanger SLC26A Family: Systemic Roles of SLC26A4 in Various Organs. International journal of molecular sciences. vol 25. issue 8. 2024-04-27. PMID:38673775. |
this review contributes to providing a better understanding of the role of slc26a4 and development of therapeutic approaches for the slc26a4-associated hearing loss and slc26a4-related dysfunction of various organs. |
2024-04-27 |
2024-04-29 |
Not clear |
| 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 S. Low frequency of SLC26A4 c.919-2A > G variant among patients with nonsyndromic hearing loss in Yunnan of Southwest China. BMC medical genomics. vol 17. issue 1. 2024-02-20. PMID:38378613. |
low frequency of slc26a4 c.919-2a > g variant among patients with nonsyndromic hearing loss in yunnan of southwest china. |
2024-02-20 |
2024-02-23 |
Not clear |
| Yikang Xiong, Meihuan Chen, Haiwei Wang, Lingji Chen, Hailong Huang, Liangpu X. Mutation analysis of GJB2, SLC26A4, GJB3 and mtDNA12SrRNA genes in 251 non-syndromic hearing loss patients in Fujian, China. International journal of pediatric otorhinolaryngology. vol 176. 2024-01-06. PMID:38029595. |
mutation analysis of gjb2, slc26a4, gjb3 and mtdna12srrna genes in 251 non-syndromic hearing loss patients in fujian, china. |
2024-01-06 |
2024-01-09 |
Not clear |
| Jinsei Jung, Shin Hye Noh, Sungwoo Jo, Doona Song, Min Jin Kang, Mi Hwa Shin, Hyun Jae Lee, Jae-Chul Pyun, Wan Namkung, Gyoonhee Han, Min Goo Lee, Jae Young Cho. Novel small molecule-mediated restoration of the surface expression and anion exchange activity of mutated pendrin causing Pendred syndrome and DFNB4. Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie. vol 167. 2023-09-10. PMID:37690388. |
variants in slc26a4 (pendrin) are the most common reasons for genetic hearing loss and vestibular dysfunction in east asians. |
2023-09-10 |
2023-10-07 |
human |
| Jinsei Jung, Shin Hye Noh, Sungwoo Jo, Doona Song, Min Jin Kang, Mi Hwa Shin, Hyun Jae Lee, Jae-Chul Pyun, Wan Namkung, Gyoonhee Han, Min Goo Lee, Jae Young Cho. Novel small molecule-mediated restoration of the surface expression and anion exchange activity of mutated pendrin causing Pendred syndrome and DFNB4. Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie. vol 167. 2023-09-10. PMID:37690388. |
in patients with pendred syndrome and dfnb4 (autosomal recessive type of genetic hearing loss 4), caused by variants in slc26a4, the hearing function is residual at birth and deteriorates over several years, with no curative treatment for these disorders. |
2023-09-10 |
2023-10-07 |
human |
| Hiroki Watanabe, Taku Ito, Natsuki Aoki, Jing Bai, Keiji Honda, Yoshiyuki Kawashima, Taro Fujikawa, Takuo Ikeda, Takeshi Tsutsum. Quantitative analysis and correlative evaluation of video-oculography, micro-computed tomography, and histopathology in Pendrin-null mice. Neurobiology of disease. 2023-06-09. PMID:37295562. |
patients with slc26a4 mutations exhibit highly variable hearing loss and vestibular dysfunction. |
2023-06-09 |
2023-08-14 |
mouse |
| Cheng Wen, Xiaozhe Yang, Xiaohua Cheng, Wei Zhang, Yichen Li, Jing Wang, Chuan Wang, Yu Ruan, Liping Zhao, Hongli Lu, Yingxin Li, Yue Bai, Yiding Yu, Yue Li, Jinge Xie, Bei-Er Qi, Hui En, Hui Liu, Xinxing Fu, Lihui Huang, Demin Ha. Optimized concurrent hearing and genetic screening in Beijing, China: A cross-sectional study. Bioscience trends. 2023-04-16. PMID:37062750. |
the slc26a4 gene is associated with late-onset hearing loss and is of great clinical concern. |
2023-04-16 |
2023-08-14 |
human |
| Arnoldas Matulevičius, Emanuele Bernardinelli, Zippora Brownstein, Sebastian Roesch, Karen B Avraham, Silvia Dossen. Molecular Features of SLC26A4 Common Variant p.L117F. Journal of clinical medicine. vol 11. issue 19. 2023-03-08. PMID:36233414. |
the slc26a4 gene, which encodes the anion exchanger pendrin, is involved in determining syndromic (pendred syndrome) and non-syndromic (dfnb4) autosomal recessive hearing loss. |
2023-03-08 |
2023-08-16 |
mouse |
| Valeriia Yu Danilchenko, Marina V Zytsar, Ekaterina A Maslova, Olga L Posuk. Selection of Diagnostically Significant Regions of the International journal of molecular sciences. vol 23. issue 21. 2022-11-14. PMID:36362242. |
selection of diagnostically significant regions of the screening pathogenic variants in the slc26a4 gene is an important part of molecular genetic testing for hearing loss (hl) since they are one of the common causes of hereditary hl in many populations. |
2022-11-14 |
2023-08-16 |
Not clear |
| Xiang Dai, Jun Li, XiJiang Hu, Jian Ye, WenQian Ca. SLC26A4 Mutation Promotes Cell Apoptosis by Inducing Pendrin Transfer, Reducing Cl BioMed research international. vol 2022. 2022-09-08. PMID:36072472. |
however, the underlying mechanisms of slc26a4 mutants in hearing loss remain unknown. |
2022-09-08 |
2023-08-14 |
Not clear |
| Paula Robles-Bolivar, David Bächinger, Alberto M Parra-Perez, Pablo Román-Naranjo, Alba Escalera-Balsera, Alvaro Gallego-Martinez, Andreas H Eckhard, Jose A Lopez-Escame. A novel nonsense variant in the CENPP gene segregates in a Swiss family with autosomal dominant low-frequency sensorineural hearing loss. European journal of human genetics : EJHG. 2022-09-07. PMID:36071244. |
low-frequency sensorineural hearing loss (snhl) is a rare hearing impairment affecting frequencies below 1000 hz, previously associated with diaph1, wsf1, myo7a, tnc, slc26a4 or ccdc50 genes. |
2022-09-07 |
2023-08-14 |
Not clear |
| Jie Wu, Zongfu Cao, Yu Su, Yang Wang, Ruikun Cai, Jiyue Chen, Bo Gao, Mingyu Han, Xiaohong Li, DeJun Zhang, Xue Gao, Shasha Huang, Quanfei Huang, Yongyi Yuan, Xu Ma, Pu Da. Molecular diagnose of a large hearing loss population from China by targeted genome sequencing. Journal of human genetics. 2022-08-18. PMID:35982127. |
of the implicated 35 hearing loss genes, three common genes, including slc26a4(278/588), gjb2(207/588), mt-rnr1(19/588), accounted for 85.54% (503/588) of the diagnosed cases, while 32 uncommon hearing loss genes, including myo15a, mitf, otof, pou3f4, ptpn11, etc. |
2022-08-18 |
2023-08-14 |
human |
| Jie Wu, Zongfu Cao, Yu Su, Yang Wang, Ruikun Cai, Jiyue Chen, Bo Gao, Mingyu Han, Xiaohong Li, DeJun Zhang, Xue Gao, Shasha Huang, Quanfei Huang, Yongyi Yuan, Xu Ma, Pu Da. Molecular diagnose of a large hearing loss population from China by targeted genome sequencing. Journal of human genetics. 2022-08-18. PMID:35982127. |
thus, the molecular etiology presented with high heterogeneity with the leading causes to be slc26a4 and gjb2 genes in the chinese hearing loss population. |
2022-08-18 |
2023-08-14 |
human |
| Yanli Wang, Yong Li, Baicheng Xu, Yiming Zhu, Xingjian Chen, Yufen Gu. Screening of SLC26A4 Gene Hotspots in 2673 Patients Associated with Sensorineural Hearing Loss in Northwestern China. The journal of international advanced otology. vol 18. issue 2. 2022-04-14. PMID:35418354. |
screening of slc26a4 gene hotspots in 2673 patients associated with sensorineural hearing loss in northwestern china. |
2022-04-14 |
2023-08-13 |
Not clear |
| Michio Murakoshi, Yuhi Koike, Shin Koyama, Shinichi Usami, Kazusaku Kamiya, Katsuhisa Ikeda, Yoichi Haga, Kohei Tsumoto, Hiroyuki Nakamura, Noriyasu Hirasawa, Kenji Ishihara, Hiroshi Wad. Effects of salicylate derivatives on localization of p.H723R allele product of SLC26A4. Auris, nasus, larynx. 2022-03-20. PMID:35305848. |
variants in the slc26a4 gene are responsible for sensorineural hearing loss. |
2022-03-20 |
2023-08-13 |
Not clear |
| Xiaohua Jin, Lu Zhang, Xinjie Wang, Lisha An, Shasha Huang, Pu Dai, Huafang Gao, Xu M. Novel CRISPR/Cas12a-based genetic diagnostic approach for SLC26A4 mutation-related hereditary hearing loss. European journal of medical genetics. 2021-12-30. PMID:34968750. |
novel crispr/cas12a-based genetic diagnostic approach for slc26a4 mutation-related hereditary hearing loss. |
2021-12-30 |
2023-08-13 |
Not clear |
| Xiaohua Jin, Lu Zhang, Xinjie Wang, Lisha An, Shasha Huang, Pu Dai, Huafang Gao, Xu M. Novel CRISPR/Cas12a-based genetic diagnostic approach for SLC26A4 mutation-related hereditary hearing loss. European journal of medical genetics. 2021-12-30. PMID:34968750. |
the clinical manifestations of slc26a4 mutation-related hearing loss are congenital sensorineural or mixed deafness. |
2021-12-30 |
2023-08-13 |
Not clear |
| Xiaohua Jin, Lu Zhang, Xinjie Wang, Lisha An, Shasha Huang, Pu Dai, Huafang Gao, Xu M. Novel CRISPR/Cas12a-based genetic diagnostic approach for SLC26A4 mutation-related hereditary hearing loss. European journal of medical genetics. 2021-12-30. PMID:34968750. |
sensitive and specific slc26a4 mutation detection in the early clinical stage is key for the early indication of potential hearing loss in the lack of effective treatment. |
2021-12-30 |
2023-08-13 |
Not clear |
| Xiaohua Jin, Lu Zhang, Xinjie Wang, Lisha An, Shasha Huang, Pu Dai, Huafang Gao, Xu M. Novel CRISPR/Cas12a-based genetic diagnostic approach for SLC26A4 mutation-related hereditary hearing loss. European journal of medical genetics. 2021-12-30. PMID:34968750. |
overall, this crispr-based nat technology provides a sensitive and fast new approach for the detection of hereditary deafness and provides a crrna optimization strategy for single-nucleotide polymorphism detection, which could be helpful for the clinical diagnosis of slc26a4 mutation-related hereditary hearing loss. |
2021-12-30 |
2023-08-13 |
Not clear |
| Jeroen J Smits, Suzanne E de Bruijn, Cornelis P Lanting, Jaap Oostrik, Luke O'Gorman, Tuomo Mantere, 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 Kreme. Exploring the missing heritability in subjects with hearing loss, enlarged vestibular aqueducts, and a single or no pathogenic SLC26A4 variant. Human genetics. 2021-10-05. PMID:34410491. |
pathogenic variants in slc26a4 have been associated with autosomal recessive hearing loss (arhl) and a unilateral or bilateral enlarged vestibular aqueduct (eva). |
2021-10-05 |
2023-08-13 |
human |