Results 1 to 10 of about 7,994 (153)

The ZBTB16/CUL3/ROC1 ubiquitin ligase drives the degradation of pathogenic pendrin (SLC26A4) protein variants [PDF]

Journal of Biomedical Science
Background Pathogenic sequence alterations in the SLC26A4 gene, which encodes the solute carrier SLC26A4/pendrin, lead to Pendred syndrome and non-syndromic autosomal recessive deafness type B4 (DFNB4), two of the most common forms of hearing loss ...
Florian Huber, Emanuele Bernardinelli, Bassam G. Haddad, Sophie Klaus, Lennart Weitgasser, Sebastian Roesch, Martin Jakab, Robert Konrat, Jan-Philipp Machtens, Dominique Eladari, Silvia Dossena   +10 more
doaj   +3 more sources

A novel variant c.1185_1196dup (p.(Gly396_Ser399dup)) in the SLC26A4 gene associated with recessive hearing loss [PDF]

Вавиловский журнал генетики и селекции
Pathogenic variants in the SLC26A4 gene (solute carrier family 26, member 4) are a common cause of inherited hearing loss. The SLC26A4 gene encodes the transmembrane protein pendrin, a member of the SLC26 anion transporter family, with predominant ...
M. V. Zytsar, V. Yu. Danilchenko, A. A. Bondar, K. E. Orishchenko, O. L. Posukh   +4 more
doaj   +3 more sources

Inhibiting SLC26A4 reverses cardiac hypertrophy in H9C2 cells and in rats [PDF]

PeerJ, 2020
Background It has been confirmed that mutations in solute carrier family 26 member 4 (SLC26A4) contribute to pendred syndrome. However, the role of SLC26A4 in cardiac hypertrophy and the signaling pathways remain unclear.
Liqun Tang, Xiaoqin Yu, Yangyang Zheng, Ning Zhou   +3 more
doaj   +3 more sources

Mutation Spectrum and Novel Rare Variants in a Han Chinese Hearing Loss Cohort Using a Tiered Sequencing Strategy. [PDF]

Mol Genet Genomic Med
In a Han Chinese hearing‐loss cohort from Southwest China, a tiered strategy combining targeted hotspot screening and whole‐exome sequencing established molecular diagnoses in 25 patients, including one involving a CDH23 truncating variant not previously reported in Han Chinese patients with hearing loss, and identified a candidate SLC12A2 variant ...
Zhang Y, Yuan S, Wan Y, Li T, Xu L, Yang W, Niu C.   +6 more
europepmc   +2 more sources

Case report: A case of SLC26A4 mutations causing pendred syndrome and non-cystic fibrosis bronchiectasis

Frontiers in Pediatrics, 2023
The SLC26A4 gene encodes the transmembrane protein pendrin, which is involved in the ion transport of chloride (Cl-), iodide (I-) or bicarbonate (HCO3-).
Kang Zhu, Yingkang Jin
exaly   +3 more sources

Whole Exome Sequencing Identified a Novel Mutation in the LOXHD1 Gene in Consanguineous Iranian Families With Hearing Loss. [PDF]

J Clin Lab Anal
Whole exome sequencing in a consanguineous Iranian family with autosomal recessive non‐syndromic hearing loss revealed a novel homozygous frameshift mutation, c.3713dupA (p.Asp1238Glufs*10), in the LOXHD1 gene. This mutation, located in exon 24, results in a premature stop codon and a truncated protein. Sanger sequencing confirmed co‐segregation of the
Katiraei SHF, Gholami M, Soosanabadi M, Entezam M, Dastgheib SA.   +4 more
europepmc   +2 more sources

Integrative Bioinformatics Analysis Reveals COL13A1 and COL23A1 as Potential Diagnostic and Prognostic Biomarkers in Thyroid Cancer. [PDF]

Health Sci Rep
ABSTRACT Introduction Thyroid cancer, the most prevalent endocrine malignancy globally, poses challenges owing to the limited understanding of its molecular drivers. Previous research has highlighted collagen genes, such as COL13A1 and COL23A1, as key players in thyroid cancer.
Islam MW, Rahman MM, Naznin H, Hossain MS, Akter T, Shatabde ZA, Hossain MJ.   +6 more
europepmc   +2 more sources

Putative Genomic Signatures of Local Adaptation in Five Local Indonesian Sheep Reveal Selection on Immunity, Reproduction, and Production Traits. [PDF]

Ecol Evol
We determined the genetic structure and signatures of selection in five local Indonesian sheep breeds using genome‐wide SNP data. By integrating population structure analyses with runs of homozygosity and haplotype‐based selection scans, we identified breed‐specific genomic regions associated with immunity, reproduction, pigmentation, metabolism, and ...
Astuti PK, Mizeranschi AE, Herdis H, Sitaresmi PI, Ibrahim A, Prastowo S, Widyas N, Nugroho T, Kusza S.   +8 more
europepmc   +2 more sources

Genetic heterogeneity in patients with enlarged vestibular aqueduct and Pendred syndrome [PDF]

Molecular Medicine
Background Pathogenic variants in the SLC26A4 gene, encoding for Cl−/HCO3 − and I− anion transporter pendrin, are associated with non-syndromic hearing loss with enlarged vestibular aqueduct (NSEVA) and Pendred syndrome (PDS). In the Caucasian population,
Marek Sklenar, Silvia Borecka, Lukas Varga, Emanuele Bernardinelli, Juraj Stanik, Martina Skopkova, Miroslav Sabo, Diana Ugorova, Silvia Dossena, Daniela Gasperikova   +9 more
doaj   +2 more sources

Failure of fluid absorption in the endolymphatic sac initiates cochlear enlargement that leads to deafness in mice lacking pendrin expression. [PDF]

PLoS ONE, 2010
Mutations of SLC26A4 are among the most prevalent causes of hereditary deafness. Deafness in the corresponding mouse model, Slc26a4(-/-), results from an abnormally enlarged cochlear lumen.
Hyoung-Mi Kim, Philine Wangemann
doaj   +1 more source