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注意：仅列出部分参考文献，下载原文获取全部文献信息。Molecular and functional studies of 4 candidate loci in Pendred syndrome and nonsyndromic hearing loss
Valentina Cirello et al.
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Autism with Seizures and Intellectual Disability: Possible Causative Role of Gain-of-function of the Inwardly-Rectifying K+ Channel Kir4.1
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Screening of SLC26A4, FOXI1 and KCNJ10 genes in unilateral hearing impairment with ipsilateral enlarged vestibular aqueduct
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Genetics and phenomics of Pendred syndrome
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Mutations of KCNJ10 Together with Mutations of SLC26A4 Cause Digenic Nonsyndromic Hearing Loss Associated with Enlarged Vestibular Aqueduct Syndrome
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The Forkhead Transcription Factor Foxi1 Is a Master Regulator of Vacuolar H+-ATPase Proton Pump Subunits in the Inner Ear, Kidney and Epididymis
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Pendred syndrome and iodide transport in the thyroid
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TRENDS IN ENDOCRINOLOGY AND METABOLISM (2008)
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Loss of cochlear HCO(3)over-bar secretion causes deafness via endolymphatic acidification and inhibition of Ca2+ reabsorption in a Pendred syndrome mouse model
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Transcriptional control of SLC26A4 is involved in pendred syndrome and nonsyndromic enlargement of vestibular aqueduct (DFNB4)
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MOLECULAR BRAIN RESEARCH (2005)
SLC26A4/PDS genotype-phenotype correlation in hearing loss with enlargement of the vestibular aqueduct (EVA):: evidence that Pendred syndrome and non-syndromic EVA are distinct clinical and genetic entities
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Loss of KCNJ10 protein expression abolishes endocochlear potential and causes deafness in Pendred syndrome mouse model
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