[HTML][HTML] Role of iodide metabolism in physiology and cancer
A De la Vieja, P Santisteban - Endocrine-related cancer, 2018 - erc.bioscientifica.com
Iodide (I−) metabolism is crucial for the synthesis of thyroid hormones (THs) in the thyroid
and the subsequent action of these hormones in the organism. I− is principally transported …
and the subsequent action of these hormones in the organism. I− is principally transported …
Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss
AM Oza, MT DiStefano, SE Hemphill… - Human …, 2018 - Wiley Online Library
Due to the high genetic heterogeneity of hearing loss (HL), current clinical testing includes
sequencing large numbers of genes, which often yields a significant number of novel …
sequencing large numbers of genes, which often yields a significant number of novel …
Pendrin function in airway epithelia
C Nofziger, S Dossena, S Suzuki, K Izuhara… - Cellular Physiology and …, 2011 - karger.com
The expression and function of the anion exchanger pendrin (SLC26A4) was thought to be
limited mainly to the inner ear, kidney and thyroid. Recent data indicates that pendrin is also …
limited mainly to the inner ear, kidney and thyroid. Recent data indicates that pendrin is also …
Thiocyanate transport in resting and IL-4-stimulated human bronchial epithelial cells: role of pendrin and anion channels
N Pedemonte, E Caci, E Sondo, A Caputo… - The Journal of …, 2007 - journals.aai.org
SCN−(thiocyanate) is an important physiological anion involved in innate defense of
mucosal surfaces. SCN− is oxidized by H 2 O 2, a reaction catalyzed by lactoperoxidase, to …
mucosal surfaces. SCN− is oxidized by H 2 O 2, a reaction catalyzed by lactoperoxidase, to …
Identification of pendrin as a common mediator for mucus production in bronchial asthma and chronic obstructive pulmonary disease
I Nakao, S Kanaji, S Ohta, H Matsushita… - The Journal of …, 2008 - journals.aai.org
Excessive production of airway mucus is a cardinal feature of bronchial asthma and chronic
obstructive pulmonary disease (COPD) and contributes to morbidity and mortality in these …
obstructive pulmonary disease (COPD) and contributes to morbidity and mortality in these …
[HTML][HTML] Molecular Epidemiology and Functional Assessment of Novel Allelic Variants of SLC26A4 in Non-Syndromic Hearing Loss Patients with Enlarged Vestibular …
Y Yuan, W Guo, J Tang, G Zhang, G Wang, M Han… - PloS one, 2012 - journals.plos.org
Background Mutations in SLC26A4, which encodes pendrin, are a common cause of
deafness. SLC26A4 mutations are responsible for Pendred syndrome and non-syndromic …
deafness. SLC26A4 mutations are responsible for Pendred syndrome and non-syndromic …
[HTML][HTML] Novel role for pendrin in orchestrating bicarbonate secretion in cystic fibrosis transmembrane conductance regulator (CFTR)-expressing airway serous cells
JP Garnett, E Hickman, R Burrows, P Hegyi… - Journal of Biological …, 2011 - ASBMB
In most HCO 3−-secreting epithelial tissues, SLC26 Cl−/HCO 3− transporters work in concert
with the cystic fibrosis transmembrane conductance regulator (CFTR) to regulate the …
with the cystic fibrosis transmembrane conductance regulator (CFTR) to regulate the …
[HTML][HTML] Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels
DM Kanavy, SM McNulty, MK Jairath, SE Brnich… - Genome medicine, 2019 - Springer
Abstract Background The 2015 American College of Medical Genetics and Genomics
(ACMG) and the Association for Molecular Pathology (AMP) guidelines for clinical sequence …
(ACMG) and the Association for Molecular Pathology (AMP) guidelines for clinical sequence …
Functional assessment of allelic variants in the SLC26A4 gene involved in Pendred syndrome and nonsyndromic EVA
Pendred syndrome is an autosomal recessive disorder characterized by sensorineural
hearing loss, with malformations of the inner ear, ranging from enlarged vestibular aqueduct …
hearing loss, with malformations of the inner ear, ranging from enlarged vestibular aqueduct …
STAT6 links IL‐4/IL‐13 stimulation with pendrin expression in asthma and chronic obstructive pulmonary disease
C Nofziger, V Vezzoli, S Dossena… - Clinical …, 2011 - Wiley Online Library
Signaling through the interleukin‐4/interleukin‐13 (IL‐4/IL‐13) receptor complex is a crucial
mechanism in the development of bronchial asthma and chronic obstructive pulmonary …
mechanism in the development of bronchial asthma and chronic obstructive pulmonary …