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Items: 8

1.
The pathogenic roles of the p.R130S prestin variant in DFNB61 hearing loss
Satoe Takahashi, Yingjie Zhou, Mary Ann Cheatham, Kazuaki Homma
Version 1. bioRxiv. Preprint. 2023 Aug 22. doi: 10.1101/2023.08.21.554157
Published in:
J Physiol. 2024 Mar; 602(6): 1199–1210.
PMCID:
PMC10473669
AbstractArticle
2.
Prestin’s fast motor kinetics is essential for mammalian cochlear amplification
Satoe Takahashi, Yingjie Zhou, Takashi Kojima, Mary Ann Cheatham, Kazuaki Homma
Proc Natl Acad Sci U S A. 2023 Mar 14; 120(11): e2217891120. Published online 2023 Mar 9. doi: 10.1073/pnas.2217891120
PMCID:
PMC10089206
AbstractArticlePDF–1.3M
3.
The R130S mutation significantly affects the function of prestin, the outer hair cell motor protein
Satoe Takahashi, Mary Ann Cheatham, Jing Zheng, Kazuaki Homma
J Mol Med (Berl) Author manuscript; available in PMC 2017 Sep 1.
Published in final edited form as: J Mol Med (Berl). 2016 Sep; 94(9): 1053–1062. Published online 2016 Apr 4. doi: 10.1007/s00109-016-1410-7
PMCID:
PMC4992584
AbstractArticlePDF–1.0M
4.
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
5.
The GJB2 (Cx26) Gene Variants in Patients with Hearing Impairment in the Baikal Lake Region (Russia)
Vera G. Pshennikova, Fedor M. Teryutin, Alexandra M. Cherdonova, Tuyara V. Borisova, Aisen V. Solovyev, Georgii P. Romanov, Igor V. Morozov, Alexander A. Bondar, Olga L. Posukh, Sardana A. Fedorova, Nikolay A. Barashkov
Genes (Basel) 2023 May; 14(5): 1001. Published online 2023 Apr 28. doi: 10.3390/genes14051001
PMCID:
PMC10218609
AbstractArticlePDF–2.1M
6.
GJB2 mutations in Iranian Azeri population with autosomal recessive nonsyndromic hearing loss (ARNSHL): First report of c.238 C>A mutation in Iran
Ehsan Abbaspour Rodbaneh, Mohammad Panahi, Bahareh Rahimi, Haleh Mokabber, Reza Farajollahi, Behzad Davarnia
J Clin Lab Anal. 2021 Nov; 35(11): e24024. Published online 2021 Sep 28. doi: 10.1002/jcla.24024
PMCID:
PMC8605150
AbstractArticlePDF–530K
7.
Benefits of Exome Sequencing in Children with Suspected Isolated Hearing Loss
Roxane Van Heurck, Maria Teresa Carminho-Rodrigues, Emmanuelle Ranza, Caterina Stafuzza, Lina Quteineh, Corinne Gehrig, Eva Hammar, Michel Guipponi, Marc Abramowicz, Pascal Senn, Nils Guinand, Helene Cao-Van, Ariane Paoloni-Giacobino
Genes (Basel) 2021 Aug; 12(8): 1277. Published online 2021 Aug 20. doi: 10.3390/genes12081277
PMCID:
PMC8391342
AbstractArticlePDF–1.2M
8.
Functional Evaluation of a Rare Variant c.516G>C (p.Trp172Cys) in the GJB2 (Connexin 26) Gene Associated with Nonsyndromic Hearing Loss
Ekaterina A. Maslova, Konstantin E. Orishchenko, Olga L. Posukh
Biomolecules. 2021 Jan; 11(1): 61. Published online 2021 Jan 5. doi: 10.3390/biom11010061
PMCID:
PMC7824951
AbstractArticlePDF–2.2M

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