Results 51 to 60 of about 2,252,434 (232)
European Neurology, 2007 Vaughan Pendred, whilst still a junior doctor, wrote the original account of familial sensorineural deafness associated with goitre, now known as Pendred’s syndrome. His account is reproduced verbatim.
openaire +2 more sources
Novel roles for chloride channels, exchangers, and regulators in chronic inflammatory airway diseases [PDF]
, 2015 Chloride transport proteins play critical roles in inflammatory airway diseases, contributing to the detrimental aspects of mucus overproduction, mucus secretion, and airway constriction.
Berry, Kayla N +3 more
core +9 more sources
Mutation analysis of SLC26A4 (Pendrin) gene in a Brazilian sample of hearing-impaired subjects
BMC Medical Genetics, 2018 Background Mutations in the SLC26A4 gene are associated with Pendred syndrome and autosomal recessive non-syndromic deafness (DFNB4). Both disorders have similar audiologic characteristics: bilateral hearing loss, often severe or profound, which may be ...
Renata Watanabe Nonose +5 more
doaj +1 more source
IL-17A induces Pendrin expression and chloride-bicarbonate exchange in human bronchial epithelial cells [PDF]
, 2014 The epithelium plays an active role in the response to inhaled pathogens in part by responding to signals from the immune system. Epithelial responses may include changes in chemokine expression, increased mucin production and antimicrobial peptide ...
Abraham, V +7 more
core +6 more sources
Analysis of Clinical Case of Pendred Syndrome
Zdorovʹe Rebenka, 2016 The article presents the literature review and clinical case of Pendred syndrome in a boy of 2.2 years old.
T.V. Sorokman, O.-M.V. Popeliuk
doaj +1 more source
CT-Scans of Cochlear Implant Patients with Characteristics of Pendred Syndrome
Cellular Physiology and Biochemistry, 2013 Background: Sensorineural hearing loss (SNHL) in newborns is estimated with an incidence around 1:10,000 per year and is divided into syndromic and non-syndromic forms.
Sebastian Roesch +3 more
doaj +1 more source
Computational analysis of functional single nucleotide polymorphisms associated with SLC26A4 gene.
PLoS ONE, 2020 Single Nucleotide Polymorphisms (SNPs) are the most common candidate mutations in human beings that play a vital role in the genetic basis of certain diseases.
Mirza Jawad Ul Hasnain +8 more
doaj +1 more source
Síndrome de Pendred causada por mutação em homozigoze no gene SLC26A4 em uma família brasileira consangüínea [PDF]
, 2008 Pendred Syndrome (PS) is an autossomal recessive disorder characterized by sensorineural deafness, goiter and iodide organification defect. The hearing loss is associated with inner ear abnormalities, ranging from an isolated enlarged vestibular aqueduct
Bahmad Júnior, Fayez +12 more
core +1 more source
Familial Follicular-Cell Derived Carcinoma
Frontiers in Endocrinology, 2012 Follicular cell-derived well-differentiated thyroid cancer, papillary (PTC) and follicular thyroid carcinomas (FTC) compose 95% of all thyroid malignancies.
Eun Ju eSon, Vania eNosé
doaj +1 more source
Stem Cell Research, 2020 Pendred syndrome (PDS) is hereditary and is characterized by thyroid enlargement, cochlea abnormalities, and hearing impairment. In this study, we established an induced pluripotent stem cell line from a PDS patient with familial thyroid disorder, caused
Xinsheng Chen +8 more
doaj +1 more source