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Loss of KCNJ10 protein expression abolishes endocochlear potential and causes deafness in Pendred syndrome mouse model.SLC26A4 genotypes and phenotypes associated with enlargement of the vestibular aqueductPendrin: an apical Cl-/OH-/HCO3- exchanger in the kidney cortexHuman pendrin expressed in Xenopus laevis oocytes mediates chloride/formate exchangeIntercalated cell H+/OH- transporter expression is reduced in Slc26a4 null miceFree radical stress-mediated loss of Kcnj10 protein expression in stria vascularis contributes to deafness in Pendred syndrome mouse model.Loss of cochlear HCO3- secretion causes deafness via endolymphatic acidification and inhibition of Ca2+ reabsorption in a Pendred syndrome mouse model.Macrophage invasion contributes to degeneration of stria vascularis in Pendred syndrome mouse modelPathogenic substitution of IVS15 + 5G > A in SLC26A4 in patients of Okinawa Islands with enlarged vestibular aqueduct syndrome or Pendred syndrome.The large vestibular aqueduct--case report and review of the literature.Current and potential rodent screens and tests for thyroid toxicants.Atypical patterns of segregation of familial enlargement of the vestibular aqueduct.Lack of pendrin HCO3- transport elevates vestibular endolymphatic [Ca2+] by inhibition of acid-sensitive TRPV5 and TRPV6 channels.The role of pendrin in blood pressure regulation.SLC26A4 mutations in patients with moderate to severe hearing lossDevelopment of the stria vascularis and potassium regulation in the human fetal cochlea: Insights into hereditary sensorineural hearing lossDevelopmental delays consistent with cochlear hypothyroidism contribute to failure to develop hearing in mice lacking Slc26a4/pendrin expression.Cortical distal nephron Cl(-) transport in volume homeostasis and blood pressure regulation.Enlarged vestibular aqueduct: review of controversial aspects.Molecular and functional characterization of human pendrin and its allelic variants.STAT6 links IL-4/IL-13 stimulation with pendrin expression in asthma and chronic obstructive pulmonary disease.Hereditary congenital severe deafness syndromes.Differential diagnosis between Pendred and pseudo-Pendred syndromes: clinical, radiologic, and molecular studies.Pendred's syndrome with goiter and enlarged vestibular aqueducts diagnosed by PDS gene mutation.Formate-stimulated NaCl absorption in the proximal tubule is independent of the pendrin protein.The Cl-/HCO3- exchanger pendrin in the rat kidney is regulated in response to chronic alterations in chloride balance.Dyshormonogenetic goiter-like changes in a child with congenital hypothyroidism and a euthyroid adult.Localized attachment loss in Pendred syndrome: incidental?Hearing loss and renal syndromes.Acute genetic ablation of pendrin lowers blood pressure in mice.An ion transporter involved in congenital deafness focus on "human pendrin expressed in Xenopus laevis oocytes mediates chloride/formate exchange".Hearing loss associated with enlarged vestibular aqueduct and zero or one mutant allele of SLC26A4.The role and spectrum of SLC26A4 mutations in Iranian patients with autosomal recessive hereditary deafness.Bipolar disorder in Pendred syndrome: a case report of two siblings.The ESF meeting on "The proteomics, epigenetics and pharmacogenetics of pendrin".Cochlear implantation in Pendred syndrome.Two siblings with progressive, fluctuating hearing loss after head trauma, treated with cochlear implantation.Distribution and frequencies of PDS (SLC26A4) mutations in Pendred syndrome and nonsyndromic hearing loss associated with enlarged vestibular aqueduct: a unique spectrum of mutations in Japanese.Neuro-otological findings in Pendred syndrome.Pendrin does not increase sulfate uptake in mammalian COS-7 cells.
P2860
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P2860
description
article publié dans la revue scientifique The Lancet
@fr
im August 1896 veröffentlichter wissenschaftlicher Artikel
@de
scientific article published in The Lancet
@en
wetenschappelijk artikel
@nl
наукова стаття, опублікована в серпні 1896
@uk
ശാസ്ത്രപ്രബന്ധം
@ml
name
DEAF-MUTISM AND GOITRE
@en
DEAF-MUTISM AND GOITRE
@nl
type
label
DEAF-MUTISM AND GOITRE
@en
DEAF-MUTISM AND GOITRE
@nl
prefLabel
DEAF-MUTISM AND GOITRE
@en
DEAF-MUTISM AND GOITRE
@nl
P1433
P1476
DEAF-MUTISM AND GOITRE
@en
P2093
Vaughan Pendred
P356
10.1016/S0140-6736(01)74403-0
P407
P577
1896-08-01T00:00:00Z