GJB2, SLC26A4 and mitochondrial DNA A1555G mutations in prelingual deafness in Northern Chinese subjects

YF Guo, YF Guo, XW Liu, J Guan, MK Han… - Acta oto …, 2008 - Taylor & Francis
Conclusion. This genetic epidemiological study demonstrated that 26.65% of the prelingual
deafness in Northern Chinese patients can be detected at younger ages by genetic testing …

Nonsyndromic hearing loss

L Van Laer, K Cryns, RJH Smith, G Van Camp - Ear and hearing, 2003 - journals.lww.com
The past decade has seen extremely rapid progress in the field of hereditary hearing loss.
To date, 80 loci for nonsyndromic hearing loss have been mapped to the human genome …

SLC26A4 c. 919-2A> G varies among Chinese ethnic groups as a cause of hearing loss

P Dai, Q Li, D Huang, Y Yuan, D Kang, DT Miller… - Genetics in …, 2008 - nature.com
Purpose: Mutations in the SLC26A4 gene are second only to GJB2 mutations as a currently
identifiable genetic cause of sensorineural hearing loss. In most areas of China, genetic …

A family of mammalian anion transporters and their involvement in human genetic diseases

LA Everett, ED Green - Human molecular genetics, 1999 - academic.oup.com
Tremendous advances in human genetics have been made in recent years, as the fruits of
the Human Genome Project are facilitating the identification of genes associated with myriad …

SLC26A4 Genotypes and Phenotypes Associated with Enlargement of the Vestibular Aqueduct

T Ito, BY Choi, KA King, CK Zalewski… - Cellular Physiology and …, 2011 - karger.com
Enlargement of the vestibular aqueduct (EVA) is the most common inner ear anomaly
detected in ears of children with sensorineural hearing loss. Pendred syndrome (PS) is an …

Screening of SLC26A4 (PDS) gene in Pendred's syndrome: a large spectrum of mutations in France and phenotypic heterogeneity

H Blons, D Feldmann, V Duval, O Messaz… - Clinical …, 2004 - Wiley Online Library
Sensorineural hearing defect and goiter are common features of Pendred's syndrome. The
clinical diagnosis of Pendred's syndrome remains difficult because of the lack of sensitivity …

Probing the function of STAS domains of the Arabidopsis sulfate transporters

N Shibagaki, AR Grossman - Journal of Biological Chemistry, 2004 - ASBMB
Sulfate transporters in plants and animals are structurally conserved and have an amino-
terminal domain that functions in transport and a carboxyl-terminal region that has been …

Hearing loss associated with enlargement of the vestibular aqueduct: mechanistic insights from clinical phenotypes, genotypes, and mouse models

AJ Griffith, P Wangemann - Hearing research, 2011 - Elsevier
Enlargement of the vestibular aqueduct (EVA) is one of the most common inner ear
malformations associated with sensorineural hearing loss in children. The delayed onset …

The HSP70 co-chaperone DNAJC14 targets misfolded pendrin for unconventional protein secretion

J Jung, J Kim, SH Roh, I Jun, RD Sampson… - Nature …, 2016 - nature.com
Mutations in SLC26A4, which encodes pendrin, are responsible for hearing loss with an
enlarged vestibular aqueduct and Pendred syndrome. The most prevalent mutation in East …

[引用][C] 95 例大前庭水管综合征的临床分析

杨伟炎, 张素珍, 赵承军, 冯勃 - 中华耳鼻咽喉科杂志, 2003