Results 101 to 110 of about 3,909 (203)

The role of yes‐associated protein in nasal inflammatory diseases

open access: yesEye &ENT Research, Volume 2, Issue 1, Page 18-24, March 2025.
Abstract Yes‐associated protein (YAP), a pivotal protein of the Hippo signaling pathway, plays a crucial role in regulating cell proliferation and differentiation. Emerging evidence highlights its significance in respiratory inflammatory disorders, including chronic rhinosinusitis, allergic rhinitis.
Bing Zhong, Yu Zhao
wiley   +1 more source

Loss of KCNJ10 protein expression abolishes endocochlear potential and causes deafness in Pendred syndrome mouse model

open access: yesBMC Medicine, 2004
Background Pendred syndrome, a common autosomal-recessive disorder characterized by congenital deafness and goiter, is caused by mutations of SLC26A4, which codes for pendrin.
Wall Susan M   +11 more
doaj   +1 more source

Unraveling the Genetic Landscape of Hearing Loss: A Comprehensive Study of Azeri Families in Ardabil, Iran

open access: yesMolecular Genetics &Genomic Medicine, Volume 13, Issue 2, February 2025.
Our study highlights that SLC26A4 is the second most prevalent cause of hearing loss, following GJB2. This finding underscores the significance of understanding the genetic underpinnings of hearing loss for early diagnosis and the implementation of appropriate screening programs for different ethnic groups in Iran.
Marzieh Mohseni   +12 more
wiley   +1 more source

Inflammation‐induced loss of CFTR‐expressing airway ionocytes in non‐eosinophilic asthma

open access: yesRespirology, Volume 30, Issue 1, Page 25-40, January 2025.
We demonstrate reduced CFTR function, CFTR protein‐expressing cells and airway ionocytes in non‐eosinophilic severe asthma in the setting of a Type 1/Type 17 cytokine environment. This suggests a role for dysfunction in the CFTR pathway applicable to other chronic neutrophil‐dominant airways diseases, including subtypes of asthma. See related editorial
Ling Chen   +16 more
wiley   +1 more source

A mouse model for distal renal tubular acidosis reveals a previously unrecognized role of the V‐ATPase a4 subunit in the proximal tubule

open access: yesEMBO Molecular Medicine, 2012
The V‐ATPase is a multisubunit complex that transports protons across membranes. Mutations of its B1 or a4 subunit are associated with distal renal tubular acidosis and deafness.
J. Christopher Hennings   +9 more
doaj   +1 more source

A novel variant of SLC26A4 and first report of the c.716T>A variant in Iranian pedigrees with non-syndromic sensorineural hearing loss [PDF]

open access: yes, 2018
The autosomal recessive non-syndromic hearing loss (ARNSHL) can be associated with variants in solute carrier family 26, member 4 (SLC26A4) gene and is the second most common cause of ARNSHL worldwide.
Ahmadi, R   +6 more
core  

The Pathogenesis of Hashimoto's Thyroiditis: Further Developments in our Understanding [PDF]

open access: yes, 2015
Hashimoto’s thyroiditis (HT) is part of a spectrum of thyroid autoimmune conditions and this review provides an update on the latest developments in the field.
Ajjan, R.A., Weetman, A.P.
core   +1 more source

Preemptive iodide treatment in the event of a nuclear disaster: The prepper's guide to the galaxy

open access: yes
Experimental Physiology, Volume 110, Issue 12, Page 1771-1776, December 1, 2025.
Per Karkov Cramon   +2 more
wiley   +1 more source

Permanent Congenital Hypothyroidism due to Rare Thyroglobulin Gene Variant (p.Cys1476Arg): A Delayed Diagnosis of Thyroid Dyshormonogenesis

open access: yesCase Reports in Medicine, Volume 2025, Issue 1, 2025.
Thyroid dyshormonogenesis is an inherited hypothyroidism caused by a monogenic defect, in the vast majority of cases, in thyroid hormone biosynthesis. It is commonly associated with thyroid enlargement which is vulnerable to nodule formation. We present a Qatari patient with an overlooked diagnosis of thyroid dyshormonogenesis due to thyroglobulin gene
Ghassan Mohamadsalih   +6 more
wiley   +1 more source

Molecular Dynamics Simulations of the STAS Domains of Rat Prestin and Human Pendrin Reveal Conformational Motions in Conserved Flexible Regions

open access: yesCellular Physiology and Biochemistry, 2014
Background: Molecular dynamics (MD) simulations provide valuable information on the conformational changes that accompany time-dependent motions in proteins.
Alok K. Sharma   +2 more
doaj   +1 more source

Home - About - Disclaimer - Privacy