Results 101 to 110 of about 2,527,901 (173)

Analysis of SLC26A4 Gene in Individuals with Non Syndromic Hearing Impairment in Relation with GJB2 Associated Mutations. [PDF]

Avicenna J Med Biotechnol, 2023
Rajalakshmi K, Thirunavukkarasu J, Vikraman MA, Maruthy S, Sylvester C, Kundapur R.   +5 more
europepmc   +1 more source

Number of subjects with mutations in GJB2, SLC26A4 and the mitochondrial 12S rRNA gene.

, 2015
CI, cochlear implantation; AgeHL, age at detection of hearing loss; AgeCI, age at implantation; Mito. 12S rRNA, mitochondrial 12S rRNA gene; n/a, not available.Number of subjects with mutations in GJB2, SLC26A4 and the mitochondrial 12S rRNA gene.
Yung-Ting Tsou (489545), Chen-Chi Wu (212810), Hui-Chen Ko (489543), Ju-Li Lin (798916), Chin-Kuo Chen (798917), Che-Ming Wu (424443), Yin-Hung Lin (381598), Pei-Lung Chen (231490)   +7 more
core   +1 more source

Novel genetic determinants contribute to hearing loss in a central European cohort with enlarged vestibular aqueduct

Molecular Medicine
Background The enlarged vestibular aqueduct (EVA) is the most commonly detected inner ear malformation. Biallelic pathogenic variants in the SLC26A4 gene, coding for the anion exchanger pendrin, are frequently involved in determining Pendred syndrome and
Emanuele Bernardinelli, Raffaella Liuni, Rapolas Jamontas, Paola Tesolin, Anna Morgan, Giorgia Girotto, Sebastian Roesch, Silvia Dossena   +7 more
doaj   +1 more source

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). [PDF]

Genes (Basel), 2023
Danilchenko VY, Zytsar MV, Maslova EA, Orishchenko KE, Posukh OL.   +4 more
europepmc   +1 more source

Gene expression profiling of airway epithelium in Mycobacterium avium complex lung disease

ERJ Open Research
Background Impaired mucociliary clearance is associated with nontuberculous mycobacterial lung disease (NTM-LD). While airway epithelial cells (AECs), which are essential for maintaining this defence mechanism, play a central role in NTM-LD pathogenesis,
Koji Furuuchi, Minako Hijikata, Shintaro Seto, Akiko Miyabayashi, Keiko Wakabayashi, Takayuki Nakagawa, Tsutomu Yoshida, Kiyomi Shimoda, Miyako Hiramatsu, Yuji Shiraishi, Kozo Morimoto, Naoto Keicho   +11 more
doaj   +1 more source

[Analysis of 59 cases of large vestibular aqueduct syndrome SLC26A4gene mutation frequency and new mutation sites]. [PDF]

Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi, 2023
Su D, Lou F, Huang R, Li X, Lin K, Li G, Ma J.   +6 more
europepmc   +1 more source

Absence of primary hypothyroidism and goiter in Slc26a4(-/-) mice fed on a low iodine diet

, 2011
Background: Mutations in the SLC26A4 gene, coding for the anion transporter pendrin, are responsible for Pendred syndrome, characterized by congenital sensorineural deafness and dyshormonogenic goiter.
A. Grindati, D. Calebiro, S. Lisi, M. Marinò, L. Fugazzola, D. De Nittis, M. Bonomi, P. Porazzi, L. Persani, G. Bottà   +9 more
core   +1 more source

A systematic review of SLC26A4 mutations causing hearing loss in the Iranian population

, 2019
Objectives: The genetics of sensorineural hearing loss is characterized by a high degree of heterogeneity. In spite of this, mutations in the SLC26A4 gene, have been reported to be the second most common contributor after those of GJB2 in many ...
Koohiyan, Mahboobeh
core   +1 more source

Identifying DNA Variants in a Turkish Cohort with Inner Ear Anomalies

Ear, Nose & Throat Journal
To determine the genetic causes of sensorineural hearing loss (SNHL) associated with inner ear anomalies, 11 unrelated Turkish individuals diagnosed with SNHL and an inner ear anomaly using temporal bone computed tomography and inner ear magnetic ...
Umit Yilmaz MD, Müzeyyen Yildirim Baylan MD, Duygu Duman PhD, Claire Sineni PhD, Güney Bademci PhD, Bilal Sizer MD, Mustafa Tekin MD, PhD   +6 more
doaj   +1 more source

[Correlation of temporal bone HRCT, SLC26A4 gene and hearing loss in enlarged vestibular aqueduct]. [PDF]

Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi, 2022
Zhao Z, Zhu Y, Fu Y, Jiang H.
europepmc   +1 more source