Results 91 to 100 of about 7,994 (153)

Validating the splicing effect of rare variants in the SLC26A4 gene using minigene assay

BMC Medical Genomics
Background The SLC26A4 gene is the second most common cause of hereditary hearing loss in human. The aim of this study was to utilize the minigene assay in order to identify pathogenic variants of SLC26A4 associated with enlarged vestibular aqueduct (EVA)
Yixin Zhao, Yan Long, Tao Shi, Xin Ma, Chengyu Lian, Hanjun Wang, Hongen Xu, Lisheng Yu, Xiaotao Zhao   +8 more
doaj   +1 more source

Repurposing approved drugs as Pendrin (<i>SLC26A4</i>) inhibitors in allergic asthma: single-cell nomination, structure-based screening and functional validation. [PDF]

Front Pharmacol
Lai J, Zhao D, Wang X, Wang B, Nan J.
europepmc   +1 more source

Mutational spectrum of SLC26A4 and SLC26A5 associated with hereditary hearing loss in Moroccan families. [PDF]

Hum Genomics
Idyahia A, Redouane S, Chentoufi FE, Charoute H, El Hamouchi A, Benrahma H, Barakat A.   +6 more
europepmc   +1 more source

Identification of a novel isoform of Slc26a4 by single-cell RNA-sequencing of pendrin-expressing cells in the cochlea. [PDF]

Hum Genet
Koh JY, Affortit C, Homma K, Takahashi S, Nizar JM, Ranum PT, Gogal R, Kim EM, Kang M, Kolbe DL, Bu F, West C, Wang D, Odell A, Weaver A, Hendon J, Walls WD, Schnieders MJ, Smith RJH.   +18 more
europepmc   +1 more source

Efficient Endolymphatic Sac-Directed Gene Delivery Using AAV8BP2 and Posterior Semicircular Canal Injection. [PDF]

Int J Mol Sci
Kang M, Suh MJ, Gee HY, Chien WW, Jung J.   +4 more
europepmc   +1 more source

Integrated hearing and genetic screening for neonatal deafness in a resource-limited region: insights from Qingyuan, China. [PDF]

Front Genet
She Q, Ou HL, Tang EF, Huang W, Tan WH, Zeng ML, Pan XF, Liu CB.   +7 more
europepmc   +1 more source

Dual ectopic thyroid located at the tongue base and left parapharyngeal space with transient congenital hypothyroidism. [PDF]

JCEM Case Rep
Kiuchi K, Kusano C, Hori N, Narumi S, Hasegawa T.   +4 more
europepmc   +1 more source

Molecular diagnosis of non-syndromic hearing loss in seven Iranian families using whole-exome sequencing. [PDF]

BMC Med Genomics
Abghari FZ, Esmaeilzadeh E, Biglari S, Ghasemi H, Mohseni M, Shahmohammad N, Khorshid HRK, Najafipour R.   +7 more
europepmc   +1 more source

Maternal Gestational Diabetes Mellitus as an Independent Risk Factor for Hearing Impairment in Hyperbilirubinemia Newborns: A Prospective Birth Cohort With Genetic Profiling. [PDF]

Noise Health
Ruan L, Su X, Yan L, Zheng Z.
europepmc   +1 more source

Genetic studies identify known and novel variants for recessively inherited moderate to severe hearing loss in consanguineous families from Pakistan. [PDF]

Sci Rep
Ramzan M, Idrees H, Khan H, Faridi R, Munir Z, Muzaffar F, Shabbir K, Imtiaz A, Noman M, Ahmed A, Bashir R, Khan NM, Maqsood A, Mujtaba G, Salman M, Bukhari I, Munir HMW, Tariq H, Waqas M, Iqbal MN, Wohler E, Witmer PD, Sobreira N, Morell RJ, Seo GH, Inagaki S, Friedman TB, Naz S.   +27 more
europepmc   +1 more source