Results 61 to 70 of about 1,143,125 (138)

Developmental Profiles of Young Deaf and Hard of Hearing Children and Their Associated Predictors

Child: Care, Health and Development, Volume 51, Issue 4, July 2025.
ABSTRACT Background Concomitant developmental disability is common in deaf and hard of hearing (DHH) children. We describe the early developmental profiles of DHH children and explore factors that may be predictive of these profiles. Methods We report on data from DHH children aged 0–66 months who are participants of a longitudinal child hearing ...
Natalie Zehnwirth, Libby Smith, Daisy A. Shepherd, Valerie Sung   +3 more
wiley   +1 more source

SLC26A4 C.317C > A Variant: Functional Analysis and Patient‐Derived Induced Pluripotent Stem Line Development

Molecular Genetics &Genomic Medicine, Volume 13, Issue 4, April 2025.
We identified compound heterozygous variants in the SLC26A4 gene, c.919‐2A > G and c.317C > A, and studied how the c.317C > A variant affects Pendrin expression and function. We successfully induced pluripotent stem cells (iPSCs) from peripheral blood mononuclear cells (PBMCs) of the proband.
Yijing Li, Tao Sun, Sang Hu, Hongen Xu, Teng Zhang, Jinlong Liu, Shuangshuang Lu, Bing Wang, Guo Dan   +8 more
wiley   +1 more source

Macrophage invasion contributes to degeneration of stria vascularis in Pendred syndrome mouse model

BMC Medicine, 2006
Background Pendred syndrome, an autosomal-recessive disorder characterized by deafness and goiter, is caused by a mutation of SLC26A4, which codes for the anion exchanger pendrin.
Everett Lorraine A, Wall Susan M, Fleming Sherry, Maganti Rajanikanth J, Singh Ruchira, Oelke Alisha, Jabba Sairam V, Green Eric D, Wangemann Philine   +8 more
doaj   +1 more source

Molecular analysis of the PDS gene in Pendred syndrome.

, 1998
Pendred syndrome is an autosomal recessive disorder characterized by the association between sensorineural hearing loss and thyroid swelling or goitre and is likely to be the most common form of syndromic deafness.
Scherer, SW, Coffey, R, Grossman4, A, Linda Luxon, Lee, J, Grueters, A, Pat Kendall-taylor, Tsui, LC, William Reardon, Richard C. Trembath, Reardon, W, Phelps, PD, Rebecca Coffey, Eleanor Gausden, Jo-anne Herbrick, Jeffrey Lee, Peter D. Phelps, Herbrick, JA, Beth Coyle, KendallTaylor, P, Lap-chee Tsui, Luxon, L, Stephen W. Scherer, Trembath, RC, Annette Grueters, Coyle, B, Gausden, E, Kendall-Taylor, P, Grossman, A, Ashley Grossman   +29 more
core   +1 more source

Comparison Between Ultrasonography and Radiography in the Detection of Epiphyseal Ossification Centers of the Knee in Infants With Permanent Congenital Hypothyroidism

Journal of Ultrasound in Medicine, Volume 44, Issue 2, Page 277-284, February 2025.
Objective To demonstrate the usefulness of ultrasonography in detecting knee ossification centers in infants with permanent congenital hypothyroidism (PCH). Methods From 2011 to 2021, all infants with PCH referred for thyroid ultrasound also underwent left knee ultrasound and radiography on the same day.
Charlotte Chiri, Daniela Rapilat, Freddy Avni, Christine Lefèvre, Julien Labreuche, Héloïse Lerisson, Céline Tillaux, Mohamed El Fayoumi, Nathalie Boutry   +8 more
wiley   +1 more source

DNAJC14 Ameliorates Inner Ear Degeneration in the DFNB4 Mouse Model

Molecular Therapy: Methods & Clinical Development, 2020
The His723Arg (H723R) mutation in SLC26A4, encoding pendrin, is the most prevalent mutation in East Asia, resulting in DFNB4, an autosomal recessive type of genetic hearing loss.
Hye Ji Choi, Hyun Jae Lee, Jin Young Choi, Ik Hyun Jeon, Byunghwa Noh, Sushil Devkota, Han-Woong Lee, Seong Kug Eo, Jae Young Choi, Min Goo Lee, Jinsei Jung   +10 more
doaj   +1 more source

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

Molecular 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, Farzane Zare Ashrafi, Ehsan Abbaspour Rodbaneh, Haleh Mokabber, Maryam Vafaei, Ramiz Nobakht, Fatemeh Keshavarzi, Sanaz Arzhangi, Sara Arish, Zahra Nematollahi Azar, Kimia Kahrizi, Hossein Najmabadi, Behzad Davarnia   +12 more
wiley   +1 more source

Mechanism of anion exchange and small-molecule inhibition of pendrin

Nature Communications
Pendrin (SLC26A4) is an anion exchanger that mediates bicarbonate (HCO3 −) exchange for chloride (Cl−) and is crucial for maintaining pH and salt homeostasis in the kidney, lung, and cochlea. Pendrin also exports iodide (I−) in the thyroid gland. Pendrin
Lie Wang, Anthony Hoang, Eva Gil-Iturbe, Arthur Laganowsky, Matthias Quick, Ming Zhou   +5 more
doaj   +1 more source

Localized attachment loss in Pendred syndrome: incidental?

, 2007
Background: Pendred syndrome is a rare, inherited, autosomal recessive disorder with an iodine organification defect of thyroxin produced by the thyroid gland.
C.G. Dileep Sharma, Pradeep, A.R., Sharma, C.G. Dileep, A.R. Pradeep   +3 more
core   +1 more source

Investigation of Third Window Symptoms in Patients With Enlarged Vestibular Aqueduct: A Pilot Study

OTO Open, Volume 9, Issue 1, January-March 2025.
Abstract Objective To assess if patients with enlarged vestibular aqueduct (EVA) experience symptoms characteristic of other third mobile window disorders such as superior semicircular canal dehiscence syndrome (SCDS). Study design Cross‐sectional study. Setting Tertiary care center. Methods Adult and pediatric patients with EVA were screened. Patients
Kimberley S. Noij, Emily Y. Huang, Nadia L. Samaha, Jonathan M. Walsh, Bryan K. Ward, John P. Carey, Carolyn M. Jenks   +6 more
wiley   +1 more source