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International Journal of Pediatric Otorhinolaryngology, ISSN 0165-5876, 07/2019, Volume 122, pp. 185 - 190
The frequency and spectrum of mutations in deafness-causing genes differs significantly according to the ethnic population and region under investigation. The... 
GJB2 | mtDNA 12SRNA | Nonsyndromic hearing loss | SLC26A4 | GJB3 | OTORHINOLARYNGOLOGY | PHENOTYPE | PEDIATRICS | SLC26A4 MUTATIONS | PREVALENCE | SPECTRUM | CHILDREN | Deafness | Gene mutations | Analysis | Genes | Medical genetics | Genetic research | Genetic aspects | Mitochondrial DNA | Genetic screening | Hearing loss
Journal Article
American Journal of Physiology - Renal Physiology, ISSN 0363-6127, 05/2007, Volume 292, Issue 5, pp. F1314 - F1321
Journal Article
Medicine, ISSN 0025-7974, 09/2018, Volume 97, Issue 38, pp. e12285 - e12285
Journal Article
American journal of hypertension, ISSN 0895-7061, 06/2019, Volume 32, Issue 7, pp. 607 - 613
The recent advances in genetics and molecular biology have resulted in the characterization of key components that critically regulate renal NaCl transport and... 
blood pressure | hypokalemia | intercalated cells | Cl-/HCO-3 exchanger | SLC26A4 | hypertension | mineralocorticoid
Journal Article
by Pan, J and Xu, P and Tang, WB and Cui, ZT and Feng, M and Wang, CY
INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY, ISSN 0165-5876, 07/2017, Volume 98, pp. 39 - 42
Objectives: The molecular etiology of nonsyndromic deafness in Chinese population has not been investigated systematically, our study is aim to investigate the... 
Nonsyndromic deafness | GJB2 | OTORHINOLARYNGOLOGY | PEDIATRICS | 12S rRNA | SLC26A4
Journal Article
Cellular Physiology and Biochemistry, ISSN 1015-8987, 12/2013, Volume 32, Issue 1, pp. 1 - 13
Ion transporters are the molecular basis for ion homeostasis of the cell and the whole organism. The anion exchanger pendrin is only one of a number of... 
Review | Ion transport | Pendred syndrome | Cell volume regulation | Epithelium | SLC26A4 | PHYSIOLOGY | KCNJ10 PROTEIN EXPRESSION | INNER-EAR | RENAL SLC26A4 | SLC26A4 PENDRIN | STRIA VASCULARIS | SYNDROME GENE PDS | CAUSES DEAFNESS | INTERCALATED CELLS | IODIDE TRANSPORTER | NA+/I-SYMPORTER
Journal Article
Acta Oto-Laryngologica, ISSN 0001-6489, 07/2019, Volume 139, Issue 7, pp. 612 - 617
Background: Although, half of the childhood deafness is genetically related, the molecular etiology of hearing impairment has not been demonstrated explicitly.... 
Nonsyndromic deafness | mutation spectrum | hotspots | Heze area | OTORHINOLARYNGOLOGY | GJB2 MUTATIONS | PREVALENCE | SLC26A4 | CHILDREN
Journal Article
BioScience Trends, ISSN 1881-7815, 2017
We retrospectively analyzed newborns with deafness gene mutations and summarized the relationship between genotype and phenotype to provide a basis for genetic... 
screening | GJB2 | Gene | hearing loss | SLC26A4
Journal Article
International Journal of Audiology, ISSN 1499-2027, 10/2019, Volume 58, Issue 10, pp. 628 - 634
Objective: Hearing loss (HL) is a common sensory deficit with high phenotypic and genotypic heterogeneity. A large Iranian family with HL was genetically... 
Missense variant | Iran | SLC26A4 | next-generation sequencing | Hearing loss | Index Medicus
Journal Article
Clinical and Experimental Otorhinolaryngology, ISSN 1976-8710, 02/2019, Volume 12, Issue 1, pp. 50 - 57
Objectives To investigate the genetic causes of hearing loss with enlarged vestibular aqueduct (EVA) in two children from unrelated two Chinese families.... 
SLC26A4 Protein | Frameshift Mutation | Vestibular Aqueduct | Hearing Loss
Journal Article
International Journal of Pediatric Otorhinolaryngology, ISSN 0165-5876, 02/2019, Volume 117, pp. 82 - 87
In order to investigate essential molecular causes for hearing loss and mutation frequency of deafness-related genes, 1315 newborns who did not pass the... 
MTRNR1 | GJB2 | SLC26A4 | MT-CO1 | GJB3 | Genetic screening | OTORHINOLARYNGOLOGY | PEDIATRICS | MUTATIONS | IMPAIRMENT | CHILDREN | Index Medicus
Journal Article
Hormone and Metabolic Research, ISSN 0018-5043, 09/2017, Volume 49, Issue 9, pp. 680 - 686
Journal Article
BioScience Trends, ISSN 1881-7815, 2017, Volume 11, Issue 4, pp. 460 - 468
We retrospectively analyzed newborns with deafness gene mutations and summarized the relationship between genotype and phenotype to provide a basis for genetic... 
screening | GJB2 | hearing loss | Gene | SLC26A4 | Screening | Hearing loss | NONSYNDROMIC HEARING-LOSS | PENDRED-SYNDROME | FREQUENCIES | BIOLOGY | ENLARGED VESTIBULAR AQUEDUCT | SLC26A4 MUTATIONS | SPECTRUM
Journal Article
Cellular Physiology and Biochemistry, ISSN 1015-8987, 12/2013, Volume 32, Issue 1, pp. 238 - 248
Background: Pendrin, an anion exchanger associated with the inner ear, thyroid and kidney, plays a significant role in respiratory tissues and diseases, where... 
Original Paper | Interleukin 4 | STAT6 | ChIP | SLC26A4 | Cytokine
Journal Article
The Journal of Molecular Diagnostics, ISSN 1525-1578, 01/2019, Volume 21, Issue 1, pp. 138 - 148
Enlarged vestibular aqueduct (EVA) is an inner-ear malformation associated with sensorineural hearing impairment. Most EVAs are associated with Pendred... 
HEARING-LOSS | PENDRED-SYNDROME | FREQUENCIES | UNIQUE SPECTRUM | EYA1 | MOLECULAR DIAGNOSIS | SLC26A4 MUTATIONS | PATHOLOGY | RETINITIS-PIGMENTOSA | CHILDREN | DELETION
Journal Article