Results 81 to 90 of about 2,252,434 (232)
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 +8 more
wiley +1 more source
BMC 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
Resolving the genetic heterogeneity of prelingual hearing loss within one family: Performance comparison and application of two targeted next generation sequencing approaches. [PDF]
, 2014 published_or_final_versio
A Yin +42 more
core +1 more source
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 +8 more
wiley +1 more source
Archives of Endocrinology and Metabolism, 2016 Objective Pendred syndrome (PS) is an autosomal recessive disorder characterised by sensorineural hearing loss and thyroid dyshormonogenesis. It is caused by biallelic mutations in the SLC26A4 gene encoding for pendrin.
Chunyun Fu +13 more
doaj +1 more source
Equilibrium Research, 2020 Vestibular dysfunction in Pendred syndrome is inconsistent and variable. A mouse model of Pendred syndrome ( Slc26a4 Δ / Δ mice) is known to manifest variable degrees of vestibular dysfunction, as evidenced by gait unsteadiness, circling behavior, and ...
Taku Ito +6 more
semanticscholar +1 more source
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 +12 more
wiley +1 more source
Genetic Screening of and in Korean Cochlear Implantees: Experience of Soree Ear Clinic [PDF]
Clinical and Experimental Otorhinolaryngology, 2012 ObjectivesGenetic hearing loss is highly heterogeneous and more than 100 genes are predicted to cause this disorder in humans. In spite of this large genetic heterogeneity, mutations in SLC26A4 and GJB2 genes are primarily responsible for the major ...
Joong-Wook Shin +3 more
doaj +1 more source
Frontiers in Genetics, 2022 Background: Congenital deafness could be the first manifestation of a syndrome such as in Usher, Pendred, and Wolfram syndromes. Therefore, a genetic study is crucial in this deficiency to significantly improve its diagnostic efficiency, to predict the ...
Laura Alías +16 more
doaj +1 more source
KCNK5 channels mostly expressed in cochlear outer sulcus cells are indispensable for hearing [PDF]
, 2015 International audienceIn the cochlea, K þ is essential for mechano-electrical transduction. Here, we explore cochlear structure and function in mice lacking K þ channels of the two-pore domain family.
Barhanin, Jacques +5 more
core +6 more sources