Molecular Epidemiology and Functional Assessment of Novel Allelic Variants of SLC26A4 in Non-Syndromic Hearing Loss Patients with Enlarged Vestibular Aqueduct in China

Common Molecular Etiologies Are Rare in Nonsyndromic Tibetan Chinese Patients with Hearing Impairment

(2012) Yongyi Yuan et al.   PLoS One

Functional Characterization of Pendrin Mutations Found in the Israeli and Palestinian Populations

(2011) Silvia Dossena et al.   CELLULAR PHYSIOLOGY AND BIOCHEMISTRY

Engineered Pendrin Protein, an Anion Transporter and Molecular Motor

(2011) Jie Tang et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Extremely discrepant mutation spectrum of SLC26A4 between Chinese patients with isolated Mondini deformity and enlarged vestibular aqueduct

(2011) Shasha Huang et al.   Journal of Translational Medicine

From Zebrafish to Mammal: Functional Evolution of Prestin, the Motor Protein of Cochlear Outer Hair Cells

(2010) Xiaodong Tan et al.   JOURNAL OF NEUROPHYSIOLOGY

Congenital goitrous hypothyroidism, deafness and Iodide organification defect in four siblings: Pendred or pseudo-pendred syndrome?

(2010) Cengiz Kara   Journal of Clinical Research in Pediatric Endocrinology

Prestin's Anion Transport and Voltage-Sensing Capabilities Are Independent

(2009) Jun-Ping Bai et al.   BIOPHYSICAL JOURNAL

Hypo-FunctionalSLC26A4variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: Genotype-phenotype correlation or coincidental polymorphisms?

(2009) Byung Yoon Choi et al.   HUMAN MUTATION

Functional characterization of wild-type and mutated pendrin (SLC26A4), the anion transporter involved in Pendred syndrome

(2009) Silvia Dossena et al.   JOURNAL OF MOLECULAR ENDOCRINOLOGY

Molecular Etiology of Hearing Impairment in Inner Mongolia: mutations in SLC26A4 gene and relevant phenotype analysis

(2009) Pu Dai et al.   Journal of Translational Medicine

Comprehensive molecular etiology analysis of nonsyndromic hearing impairment from typical areas in China

(2009) Yongyi Yuan et al.   Journal of Translational Medicine

GJB2 mutation spectrum in 2063 Chinese patients with nonsyndromic hearing impairment

(2009) Pu Dai et al.   Journal of Translational Medicine

Distinct and novel SLC26A4/Pendrin mutations in Chinese and U.S. patients with nonsyndromic hearing loss

(2009) Pu Dai et al.   PHYSIOLOGICAL GENOMICS

Functional assessment of allelic variants in the SLC26A4 gene involved in Pendred syndrome and nonsyndromic EVA

(2008) A. Pera et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA