Hereditary deafness and phenotyping in humans
M Bitner-Glindzicz - British medical bulletin, 2002 - academic.oup.com
Hereditary deafness has proved to be extremely heterogeneous genetically with more than
40 genes mapped or cloned for non-syndromic dominant deafness and 30 for autosomal …
40 genes mapped or cloned for non-syndromic dominant deafness and 30 for autosomal …
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 …
the Human Genome Project are facilitating the identification of genes associated with myriad …
Targeted disruption of mouse Pds provides insight about the inner-ear defects encountered in Pendred syndrome
LA Everett, IA Belyantseva… - Human molecular …, 2001 - academic.oup.com
Following the positional cloning of PDS, the gene mutated in the deafness/goitre disorder
Pendred syndrome (PS), numerous studies have focused on defining the role of PDS in …
Pendred syndrome (PS), numerous studies have focused on defining the role of PDS in …
Pendrin, the Protein Encoded by the Pendred Syndrome Gene (PDS), Is an Apical Porter of Iodide in the Thyroid and Is Regulated by Thyroglobulin in FRTL-5 Cells
IE Royaux, K Suzuki, A Mori, R Katoh, LA Everett… - …, 2000 - academic.oup.com
Pendred syndrome is an autosomal recessive disorder characterized by congenital
deafness and thyroid goiter. The thyroid disease typically develops around puberty and is …
deafness and thyroid goiter. The thyroid disease typically develops around puberty and is …
Expression pattern of the mouse ortholog of the Pendred's syndrome gene (Pds) suggests a key role for pendrin in the inner ear
LA Everett, H Morsli, DK Wu… - Proceedings of the …, 1999 - National Acad Sciences
Pendred's syndrome is an autosomal-recessive disorder characterized by deafness and
goiter. After our recent identification of the human gene mutated in Pendred's syndrome …
goiter. After our recent identification of the human gene mutated in Pendred's syndrome …
Loss of cochlear HCO3− secretion causes deafness via endolymphatic acidification and inhibition of Ca2+ reabsorption in a Pendred syndrome mouse model
P Wangemann, K Nakaya, T Wu… - American Journal …, 2007 - journals.physiology.org
Pendred syndrome, characterized by childhood deafness and postpuberty goiter, is caused
by mutations of SLC26A4, which codes for the anion exchanger pendrin. The goal of the …
by mutations of SLC26A4, which codes for the anion exchanger pendrin. The goal of the …
Hypo‐Functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: Genotype‐phenotype correlation or …
BY Choi, AK Stewart, AC Madeo, SP Pryor… - Human …, 2009 - Wiley Online Library
Hearing loss with enlargement of the vestibular aqueduct (EVA) can be associated with
mutations of the SLC26A4 gene encoding pendrin, a transmembrane Cl−/I−/HCO …
mutations of the SLC26A4 gene encoding pendrin, a transmembrane Cl−/I−/HCO …
Large vestibular aqueduct syndrome: audiological, radiological, clinical, and genetic features
PURPOSE: The aim of this study was to analyze the clinical, audiological, radiological, and
genetic features of a group of patients affected with large vestibular aqueduct syndrome …
genetic features of a group of patients affected with large vestibular aqueduct syndrome …
Genotype–phenotype correlations for SLC26A4-related deafness
H Azaiez, T Yang, S Prasad, JL Sorensen… - Human genetics, 2007 - Springer
Pendred syndrome (PS) and non-syndromic enlarged vestibular aqueduct (EVA) are two
recessive disorders characterized by the association of sensorineural hearing loss (SNHL) …
recessive disorders characterized by the association of sensorineural hearing loss (SNHL) …
The HSP70 co-chaperone DNAJC14 targets misfolded pendrin for unconventional protein secretion
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 …
enlarged vestibular aqueduct and Pendred syndrome. The most prevalent mutation in East …