Zobrazeno 1 - 10
of 1 412
pro vyhledávání: '"pendred-syndrome"'
Publikováno v:
Annals of Otology, Rhinology & Laryngology; Sep2024, Vol. 133 Issue 9, p828-833, 6p
Autor:
D'Arco, Felice, Kandemirli, Sedat G., Dahmoush, Hisham M., Alves, Cesar A. P. F., Severino, Mariasavina, Dellepiane, Francesco, Robson, Caroline D., Lequin, Maarten H., Rossi-Espagnet, Camilla, O'Brien, William T., Nash, Robert, Clement, Emma, Juliano, Amy F.
Publikováno v:
Neuroradiology; Aug2024, Vol. 66 Issue 8, p1397-1403, 7p
Autor:
Yock-Ping Chow1, Abdul Murad, Nor Azian1, Rani, Zamzureena Mohd1, Jia-Shiun Khoo2, Pei-Sin Chong2, Loo-Ling Wu3, Jamal, Rahman1,3 rahmanj@ppukm.ukm.edu.my, Chow, Yock-Ping1 (AUTHOR), Mohd Rani, Zamzureena1 (AUTHOR), Khoo, Jia-Shiun4 (AUTHOR), Chong, Pei-Sin4 (AUTHOR), Wu, Loo-Ling3 (AUTHOR)
Publikováno v:
Orphanet Journal of Rare Diseases. 2/21/2017, Vol. 12, p1-9. 9p.
Autor:
Nierop, J.W.I.1,2, Huinck, W.J.1,3, Pennings, R.J.E.1,2, Admiraal, R.J.C.1,2, Mylanus, E.A.M.1,3, Kunst, H.P.M.1,2
Publikováno v:
Clinical Otolaryngology. Aug2016, Vol. 41 Issue 4, p386-394. 9p.
Autor:
Jin-Young Koh, Corentin Affortit, Paul T. Ranum, Cody West, William D. Walls, Hidekane Yoshimura, Jian Q. Shao, Brian Mostaert, Richard J.H. Smith
Publikováno v:
BMC Medical Genomics, Vol 16, Iss 1, Pp 1-17 (2023)
Abstract Background The primary pathological alterations of Pendred syndrome are endolymphatic pH acidification and luminal enlargement of the inner ear. However, the molecular contributions of specific cell types remain poorly characterized. Therefo
Externí odkaz:
https://doaj.org/article/69b39b5275134f77bb652356de04ec38
Publikováno v:
Oncology Letters. 2014, Vol. 8 Issue 5, p2059-2062. 4p.
Publikováno v:
Journal of Hearing Science; Jun2023, Vol. 13 Issue 2, p29-48, 20p
Autor:
Hiroki Watanabe, Taku Ito, Natsuki Aoki, Jing Bai, Keiji Honda, Yoshiyuki Kawashima, Taro Fujikawa, Takuo Ikeda, Takeshi Tsutsumi
Publikováno v:
Neurobiology of Disease, Vol 183, Iss , Pp 106194- (2023)
Patients with SLC26A4 mutations exhibit highly variable hearing loss and vestibular dysfunction. Although Slc26a4 mutant mice similarly exhibit vestibular deficits, including circling behavior, head tilting, and torticollis, the underlying pathogenes
Externí odkaz:
https://doaj.org/article/ca784bcb40cc4c7598f4fbe60de78488
Autor:
Kang Zhu, Yingkang Jin
Publikováno v:
Frontiers in Pediatrics, Vol 10 (2023)
The SLC26A4 gene encodes the transmembrane protein pendrin, which is involved in the ion transport of chloride (Cl-), iodide (I-) or bicarbonate (HCO3-). Mutations in the SLC26A4 gene alter the structure and (or) function of pendrin, which are closel
Externí odkaz:
https://doaj.org/article/8c6824fc24914f7088d9c600b42bf963
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